StudyType PubMedID Author Title Journal PublishDate Chromosome Disease Technology Species CaseID Platform CNA Connection Gene Affiliation Abstract GenomeAssembly GEO dbGaP ENA IsCancer FusionGene Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 11,X Ependymoma Next Generation Sequencing Homo sapiens ST1 Illumina HighSeq 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SYN1_POLA1;RS1;SLC1A5;P4HA1;ALG13;ZNF827;EFHC2;SEC22A;LOC285878;TRANK1;PRKX;GPC3;HDHD1;SSX3;ATG4A;IL1RAPL1;GLRA2;SH3KBP1;IL1RAPL2;DIAPH2;DACH2;ERCC6L;PIN4;MRPL16;HDHD1_MACROD1;LOC286467;STX3;PRPSAP2;UNG;C11orf95;FTX;MAOB;OR9Q1;TEX11;MSX2;SYN1;CXorf30;PLS3;TTC9C;TMCC1;ATP7A;POLA1;PNPLA4_ATP1B4;RFESD_RFESD;DDX3X;KIAA1217;PCDH11X;DMD;ATRX;C11orf95_RELA;LRCH2;REPS2;VSTM2A;KDM6A;DIO2 St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA;HDHD1,MACROD1;PRG2,C11orf95 Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 1,11 Ependymoma Next Generation Sequencing Homo sapiens ST2 Illumina HighSeq chr1:10101-23950200:-1;chr1:24078468-24080192:-1;chr2:10001-44700:1;chr2:128536801-128537500:-1;chr9:10001-141108100:-1;chr11:133701-55365400:-1;chr11:55459601-55784390:-1;chr11:56496718-56497900:1;chr11:56498057-56498168:1;chr11:56498169-56498545:1;chr11:56498546-56498608:1;chr11:56663001-56677510:-1;chr11:57352433-57353960:-1;chr11:57533945-57537111:-1;chr11:59910169-59912939:-1;chr11:60691595-60693442:-1;chr11:60840946-61159547:-1;chr11:61316664-61318506:-1;chr11:61742963-61745364:-1;chr11:62310777-62312488:-1;chr11:62462371-62464600:-1;chr11:63532010-64841368:1;chr11:64841369-64842810:-1;chr11:64842811-65429800:1;chr11:65429801-65431371:-1;chr11:65431372-65962744:1;chr11:65962745-65964931:-1;chr11:65964932-66178051:1;chr11:66178052-66505173:-1;chr11:66505174-76257798:1;chr11:76257799-77208636:-1;chr11:77874774-77877400:-1;chr11:78148643-78151579:-1;chr11:79130183-79133520:-1;chr11:79133521-80288992:1;chr11:80288993-80290733:-1;chr11:82249727-82253741:-1;chr11:83112371-83115905:-1;chr11:83115906-84613700:1;chr11:84613701-85617848:-1;chr11:85617849-86132389:1;chr11:88973847-88973900:1;chr11:88974001-88974300:1;chr11:88974365-88974484:1;chr11:88974485-88975242:-1;chr11:90813909-90819550:-1;chr11:90819551-92388918:1;chr11:92388919-92390137:-1;chr11:92390138-93274768:1;chr11:93274769-93275375:-1;chr11:93275376-118523766:1;chr11:118523767-133075931:-1;chr11:133459430-133461682:-1;chr11:134929801-134946400:1 hs11:64983067-64983067,hs11:64983501-64983501;hs3:34432532-34432532,hs3:34433003-34433003;hs11:57352433-57352433,hs11:83112371-83112371;hs11:57353961-57353961,hs11:56898805-56898805;hs6:109203696-109203696,hs6:109202055-109202055;hs13:56880933-56880933,hs13:56881767-56881767;hs11:56498169-56498169,hs11:88973888-88973888;hs11:56498609-56498609,hs11:86132705-86132705;hs11:86133004-86133004,hs11:88973932-88973932;hs1:24078468-24078468,hs11:82249727-82249727;hs11:93274769-93274769,hs11:66505174-66505174;hs11:65962745-65962745,hs11:79133521-79133521;hs11:77874774-77874774,hs11:57537112-57537112;hs11:92390138-92390138,hs11:65964932-65964932;hs11:56498022-56498022,hs11:88974396-88974396;hs11:88671613-88671613,hs11:62464596-62464596;hs11:56498609-56498609,hs11:86132705-86132705;hs11:56498169-56498169,hs11:88973888-88973888;hs7:20016970-20016970,hs7:20018602-20018602;hs11:92390138-92390138,hs11:65964932-65964932;hs11:56498022-56498022,hs11:88974396-88974396;hs11:60691595-60691595,hs11:57467033-57467033;hs11:86133004-86133004,hs11:88973932-88973932;hs11:88974331-88974331,hs11:85617849-85617849;hs11:56498169-56498169,hs11:88973888-88973888;hs11:62462371-62462371,hs1:24080193-24080193;hs11:76257799-76257799,hs11:56496718-56496718;hs11:77877366-77877366,hs11:62312489-62312489;hs11:78148643-78148643,hs11:88974372-88974372;hs17:42676519-42676519,hs2:58227721-58227721;hs11:56498169-56498169,hs11:88973888-88973888;hs11:133075932-133075932,hs11:61318507-61318507;hs21:25629382-25629382,hs21:25633408-25633408;hs11:90819551-90819551,hs11:65431372-65431372;hs11:86133004-86133004,hs11:88973932-88973932;hs11:61742963-61742963,hs11:55784391-55784391;hs11:88974365-88974365,hs11:88973839-88973839;hs11:56498169-56498169,hs11:88973888-88973888;hs11:56498057-56498057,hs11:60840946-60840946;hs11:88974331-88974331,hs11:85617849-85617849;hs11:78148643-78148643,hs11:88974372-88974372;hs11:133459430-133459430,hs11:59912940-59912940;hs11:56498022-56498022,hs11:88974396-88974396;hs11:77874774-77874774,hs11:57537112-57537112;hs11:88974331-88974331,hs11:85617849-85617849;hs11:80290734-80290734,hs11:61159548-61159548;hs11:57467021-57467021,hs11:59910169-59910169;hs11:133475467-133475467,hs11:56677511-56677511;hs11:56498609-56498609,hs11:86132705-86132705;hs11:133475462-133475462,hs11:77208637-77208637;hs11:56498169-56498169,hs11:88973888-88973888;hs11:78148643-78148643,hs11:88974372-88974372;hs11:57533945-57533945,hs11:61745365-61745365;hs11:92388919-92388919,hs11:93275376-93275376;hs11:88671613-88671613,hs11:62464596-62464596;hs11:86133004-86133004,hs11:88973932-88973932;hs11:92388919-92388919,hs11:93275376-93275376;hs11:88974350-88974350,hs11:90813909-90813909;hs11:62310777-62310777,hs11:56529059-56529059;hs11:65962745-65962745,hs11:79133521-79133521;hs11:80288993-80288993,hs11:86132390-86132390;hs11:86133004-86133004,hs11:88973932-88973932;hs11:133075932-133075932,hs11:61318507-61318507;hs6:104439597-104439597,hs6:104440200-104440200;hs20:36718918-36718918,hs20:36718843-36718843;hs11:76257799-76257799,hs11:56496718-56496718;hs11:57533945-57533945,hs11:61745365-61745365;hs11:86133004-86133004,hs11:88973932-88973932;hs11:56498022-56498022,hs11:88974396-88974396;hs11:76257799-76257799,hs11:56496718-56496718;hs11:66178052-66178052,hs11:64842811-64842811;hs11:56498169-56498169,hs11:88973888-88973888;hs11:62462371-62462371,hs1:24080193-24080193;hs11:79130183-79130183,hs11:133461683-133461683;hs11:76257799-76257799,hs11:56496718-56496718;hs11:56498022-56498022,hs11:88974396-88974396;hs11:56498609-56498609,hs11:86132705-86132705;hs19:58477128-58477128,hs19:58476480-58476480;hs11:88974280-88974280,hs11:88973839-88973839;hs11:88974330-88974330,hs11:83115906-83115906;hs11:64841369-64841369,hs11:118523767-118523767;hs11:56498169-56498169,hs11:88973888-88973888;hs11:56498022-56498022,hs11:88974396-88974396;hs11:56498609-56498609,hs11:86132705-86132705;hs11:61223391-61223391,hs11:82253742-82253742;hs11:61316664-61316664,hs11:86989226-86989226;hs11:65429801-65429801,hs11:63532010-63532010;hs21:24828945-24828945,hs21:24829265-24829265;hs11:56498169-56498169,hs11:88973888-88973888 SLC22A20;ARMC2;CCDC81_NARS2;C11orf30;TCEB3;C11orf75;PACS1;CTNND1;FAT3;BSCL2_GRM5;CCDC81_TYR;OR8U8;TYR;ZDHHC5;CCDC81;CCDC83;AHNAK;TYR_NARS2;NARS2;SYT7;CCDC81_CCDC83;TMX2-CTNND1;TYR_CCDC83;C11orf30_OR8U8;HNRNPUL2-BSCL2_GRM5;ODZ4;OPCML;RPRD1B_RPRD1B;OR8U8_OR8U8;BSCL2;C19orf18;PHLDB1;TMEM135_SYT7;C11orf95_RELA St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA;PACS1,ODZ4;PHLDB1,CDCA5 Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 11 Ependymoma Next Generation Sequencing Homo sapiens ST3 Illumina HighSeq chr1:67625082-83788300:-1;chr1:107215337-107219950:-1;chr1:143538601-249240500:1;chr2:188210554-188212008:-1;chr3:50004272-50005960:-1;chr3:182041516-182045507:-1;chr4:108875141-109373478:-1;chr4:109383708-109384629:-1;chr4:109384630-109385237:1;chr4:109385238-109386211:-1;chr4:109386212-109388977:1;chr4:109388978-109390580:1;chr4:109390581-109392568:-1;chr4:109392569-109393500:1;chr4:109393501-109511572:-1;chr4:109511573-151613043:1;chr4:151613044-151632069:-1;chr5:100307271-100307355:-1;chr9:4714201-21901594:-1;chr9:21901595-22025245:-1;chr9:22025246-24430712:-1;chr9:24430713-24432864:-1;chr9:24432865-29916900:-1;chr9:29916901-31587601:1;chr9:31587602-31587699:-1;chr10:79386572-113490323:-1;chr11:48669201-48670070:-1;chr11:57399735-57400563:-1;chr11:59439701-59440268:-1;chr11:60105782-60107379:-1;chr11:60375800-60377018:-1;chr11:60377019-60377260:1;chr11:60377261-60543559:-1;chr11:60543560-62531300:-1;chr11:62531401-62531825:-1;chr11:64184367-64185239:-1;chr11:64185240-64791300:-1;chr11:64791384-64791800:-1;chr11:64791901-64799860:-1;chr11:64799861-64802103:-1;chr11:64802104-65088994:-1;chr11:65088995-65254664:-1;chr11:65254665-72042700:-1;chr11:72042801-72043094:-1;chr11:78798885-81003016:-1;chr11:81003017-81637490:1;chr11:81637491-81637738:1;chr11:81637739-81637836:1;chr11:81637837-83173785:-1;chr11:83565352-83566601:-1;chr11:88046595-88047613:-1;chr11:89831401-92099860:-1;chr11:94887474-94887888:1;chr11:94887889-94888065:1;chr11:94888066-94888527:1;chr11:94888528-94889981:1;chr11:94889982-94890456:-1;chr11:94890457-94961146:1;chr11:94961147-94962333:-1;chr11:95544046-95545829:-1;chr11:107827417-107952854:-1;chr11:111488261-111489062:-1;chr11:112270860-112272265:-1;chr11:112272266-114186121:-1;chr11:114186122-114186599:-1;chr11:116176859-116177461:-1;chr11:118812654-118813863:-1;chr11:119214409-119214728:-1;chr11:119214729-119705794:-1;chr11:119705795-119707689:-1;chr11:119912269-119913412:-1;chr11:123281297-125461747:-1;chr11:126349249-126741155:-1;chr11:132339815-132341900:-1;chr13:24806253-24827234:-1;chr14:19000101-34303789:1;chr14:34303790-34757423:-1;chr16:7865401-21594700:-1;chr17:1-2032200:1;chr17:28952501-30579648:1;chr17:30579649-32071800:1;chr17:32071801-32101473:1;chr17:32101474-34968606:1;chr18:49080713-49080811:-1 hs7:142998405-142998405,hs15:72276914-72276914;hs1:107215337-107215337,hs1:107219951-107219951;hs1:67625082-67625082,hs1:83788301-83788301;hs11:114186122-114186122,hs11:114186600-114186600;hs11:48669026-48669026,hs11:48670071-48670071;hs7:142998405-142998405,hs15:72276914-72276914;hs9:3123766-3123766,hs9:3123836-3123836;hs4:108877071-108877071,hs4:109384630-109384630;hs15:72276908-72276908,hs7:142998123-142998123;hs11:119214729-119214729,hs11:88047614-88047614;hs11:81637739-81637739,hs11:119707690-119707690;hs9:132014196-132014196,hs9:133525332-133525332;hs11:94887474-94887474,hs11:60377019-60377019;hs2:38306620-38306620,hs2:46717347-46717347;hs11:72042738-72042738,hs11:83566602-83566602;hs11:60105782-60105782,hs11:83565352-83565352;hs11:95544046-95544046,hs11:116177462-116177462;hs2:188210554-188210554,hs2:188212009-188212009;hs18:49080713-49080713,hs18:49080812-49080812;hs6:74110830-74110830,hs2:24763984-24763984;hs11:119214729-119214729,hs11:88047614-88047614;hs11:132341901-132341901,hs11:65254665-65254665;hs11:123281297-123281297,hs11:126349249-126349249;hs11:64184367-64184367,hs11:65088995-65088995;hs19:45622885-45622885,hs19:45622982-45622982;hs4:109386212-109386212,hs4:109373479-109373479;hs4:109385238-109385238,hs4:109511573-109511573;hs11:81637837-81637837,hs11:67359965-67359965;hs15:72276908-72276908,hs7:142998123-142998123;hs11:118812654-118812654,hs11:118813864-118813864;hs9:24430713-24430713,hs9:24432865-24432865;hs5:57769180-57769180,hs5:59079665-59079665;hs11:71621464-71621464,hs11:112272266-112272266;hs11:94888600-94888600,hs11:119214409-119214409;hs3:50005961-50005961,hs17:34889458-34889458;hs14:37151721-37151721,hs14:37151782-37151782;hs9:31587602-31587602,hs9:31587700-31587700;hs17:45569813-45569813,hs8:11787247-11787247;hs10:79386572-79386572,hs10:113490324-113490324;hs11:57399735-57399735,hs11:57400564-57400564;hs11:107827417-107827417,hs11:83173786-83173786;hs11:64799861-64799861,hs11:81637491-81637491;hs11:62531311-62531311,hs11:72043095-72043095;hs3:110372617-110372617,hs3:110372657-110372657;hs11:94888600-94888600,hs11:119214409-119214409;hs11:59439608-59439608,hs11:59440269-59440269;hs9:21901595-21901595,hs9:22025246-22025246;hs9:133525306-133525306,hs2:29004208-29004208;hs11:39887039-39887039,hs11:39887269-39887269;hs17:30579649-30579649,hs17:28951909-28951909;hs7:142998395-142998395,hs15:72276914-72276914;hs12:122342961-122342961,hs12:57917215-57917215;hs11:62531311-62531311,hs11:72043095-72043095;hs3:182041516-182041516,hs3:182045508-182045508;hs3:77984982-77984982,hs3:77984926-77984926;hs2:24763977-24763977,hs6:74110832-74110832;hs10:90471894-90471894,hs10:90428535-90428535;hs11:107827417-107827417,hs11:83173786-83173786;hs11:112270860-112270860,hs11:64791849-64791849;hs13:24806253-24806253,hs13:24827235-24827235;hs11:64799861-64799861,hs11:81637491-81637491;hs11:125461748-125461748,hs11:60107380-60107380;hs2:106475471-106475471,hs4:75849999-75849999;hs11:64791384-64791384,hs11:64802104-64802104;hs11:94962334-94962334,hs11:92099861-92099861;hs4:108875141-108875141,hs4:109383708-109383708;hs11:78798885-78798885,hs11:94887531-94887531;hs7:142998113-142998113,hs7:142998403-142998403;hs11:88046595-88046595,hs11:111488261-111488261;hs12:122342961-122342961,hs12:57917215-57917215;hs11:94887827-94887827,hs11:107952855-107952855;hs11:119214729-119214729,hs11:88047614-88047614;hs11:60105782-60105782,hs11:83565352-83565352;hs4:151613044-151613044,hs4:151632070-151632070;hs11:94888066-94888066,hs11:64185240-64185240;hs11:119705795-119705795,hs11:81003017-81003017;hs3:85646546-85646546,hs3:69873613-69873613;hs7:142998405-142998405,hs15:72276914-72276914;hs11:119912269-119912269,hs11:126741156-126741156;hs11:116176859-116176859,hs11:111489063-111489063;hs5:27443337-27443337,hs5:27443440-27443440;hs11:67373086-67373086,hs11:95545830-95545830;hs22:33661576-33661576,hs22:33661660-33661660;hs11:107827417-107827417,hs11:83173786-83173786;hs4:109390581-109390581,hs4:109392569-109392569;hs11:94888016-94888016,hs11:107828960-107828960;hs11:94961147-94961147,hs11:65433038-65433038;hs5:100307271-100307271,hs5:100307356-100307356;hs11:94887889-94887889,hs11:64634423-64634423;hs17:34886656-34886656,hs3:50004272-50004272;hs14:34303790-34303790,hs14:34757424-34757424;hs11:132339815-132339815,hs11:119913413-119913413;hs3:85646546-85646546,hs3:69873613-69873613;hs15:72276908-72276908,hs7:142998123-142998123;hs16:7106321-7106321,hs16:7106231-7106231;hs12:125506321-125506321,hs12:125506720-125506720;hs11:125459685-125459685,hs11:107828724-107828724;hs11:94890457-94890457,hs11:62531826-62531826;hs11:63531205-63531205,hs11:60543560-60543560 CASP2;MYO9A;MYO9A_MYO9A;CTSC;DLG2_CLPB;MS4A6E_DLG2;CEP57;CALCRL;DDX43;MFRP;OPCML;KIRREL3;CDC42EP2;LOC285456;PDE4D;LOC100133315;MYO19_RBM6;MRPL45P2;KCNMA1;RAB39;ARL2-SNX15;CLPB;C1QTNF5;CDKN2B-AS1;PPP1CB;LRRC37BP1;MBD6;POLR2G;LIPF;SPATA13_SPATA13;SNX15;MS4A6E;NCK2;ARL2-SNX15_ARL2-SNX15;SESN3_FAT3;ODZ4;SIK2_CTSC;PSMD9;CUL5;CADM2;SIK2;DLG2;SESN3;EHD1;RBM6_MYO19;MITF St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA;KIRREL3,RP11-831A10 Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 2,11 Ependymoma Next Generation Sequencing Homo sapiens ST4 Illumina HighSeq chr2:32150501-32200497:-1;chr2:32850983-32851536:-1;chr2:34130260-34135800:-1;chr2:34654993-34666613:-1;chr2:39763329-39763957:-1;chr3:60201-90391100:-1;chr3:192886401-197948400:-1;chr4:96418001-191043900:1;chr5:11701-45912900:-1;chr5:100762101-180785400:-1;chr6:90701-65194400:-1;chr6:65202301-171050900:-1;chr7:10001-19614100:1;chr8:33501-78414800:-1;chr8:78448301-146303800:-1;chr9:10001-6700600:-1;chr9:6711401-141108100:-1;chr11:50616101-59242474:1;chr11:59242475-59247917:-1;chr11:63613166-63613448:-1;chr11:64429398-64484187:-1;chr13:56114201-115109800:1;chr21:9411201-48119800:-1;chr22:16054601-51234500:-1 hs2:33528011-33528011,hs2:37546802-37546802;hs11:57080811-57080811,hs11:55701486-55701486;hs11:65431243-65431243,hs11:63532315-63532315;hs11:59242475-59242475,hs2:34837578-34837578;hs11:63613166-63613166,hs11:63613449-63613449;hs2:31455656-31455656,hs2:33529265-33529265;hs6:149019988-149019988,hs6:149020049-149020049;hs2:37555137-37555137,hs2:31463551-31463551;hs2:39763958-39763958,hs11:59236125-59236125;hs11:65432268-65432268,hs2:34135762-34135762;hs11:64429398-64429398,hs2:39763329-39763329;hs2:34654993-34654993,hs2:32394770-32394770;hs2:32389918-32389918,hs2:32851537-32851537;hs2:34130260-34130260,hs2:51175100-51175100;hs2:34902878-34902878,hs2:34666614-34666614;hs2:39347009-39347009,hs2:31457120-31457120;hs11:65096960-65096960,hs11:65097953-65097953;hs1:57176418-57176418,hs1:57176469-57176469;hs11:55691545-55691545,hs11:57080302-57080302;hs11:59237569-59237569,hs2:32150351-32150351;hs3:77239677-77239677,hs3:77239792-77239792;hs11:60192521-60192521,hs11:60193197-60193197;hs11:62923912-62923912,hs2:32200498-32200498;hs2:52223302-52223302,hs2:39349632-39349632;hs2:32850983-32850983,hs11:64484188-64484188;hs2:31462408-31462408,hs11:59247918-59247918 LTBP1;TNKS1BP1;C11orf95;EHD3;LOC728730;LOC728730_NRXN2;SLC30A6;NRXN1;SOS1_EHD3;PRKAA2_PRKAA2;MEMO1;NRXN2 St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA; Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 6,8,11 Ependymoma Next Generation Sequencing Homo sapiens ST5 Illumina HighSeq chr1:120378803-120381148:-1;chr6:2150195-2172900:-1;chr6:2172901-2174800:-1;chr6:2174801-2180017:-1;chr6:3927080-3943200:-1;chr11:63476704-63532899:-1;chr11:65091865-65094547:-1;chrY:2649501-59033300:-1 hs6:2180018-2180018,hs11:65430730-65430730;hs1:120378803-120378803,hs1:120381149-120381149;hs11:63476704-63476704,hs11:65091865-65091865;hs6:3927080-3927080,hs6:3943206-3943206;hs6:2150195-2150195,hs11:65094548-65094548;hs11:63093918-63093918,hs8:50418821-50418821;hs11:65430619-65430619,hs11:63532900-63532900 GMDS;NBPF7_NBPF7;RTN3;C11orf95 St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA; Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 11 Ependymoma Next Generation Sequencing Homo sapiens ST6 Illumina HighSeq chr1:10101-249240500:-1;chr2:92277301-243183600:-1;chr3:60201-197948400:-1;chr4:10501-191043900:-1;chr5:11701-180375000:1;chr5:180440901-180785400:1;chr6:90701-171050900:-1;chr7:61886701-159128500:-1;chr8:33501-146303800:-1;chr9:10001-141108100:-1;chr11:133701-59887975:-1;chr11:59889851-61609285:-1;chr11:61609694-62624514:-1;chr11:62625097-63993126:-1;chr11:63993645-65431302:-1;chr11:65432736-68208863:-1;chr11:68208864-69354214:-1;chr11:69354215-71247036:-1;chr11:71249201-77358825:-1;chr11:77359102-78565937:-1;chr11:79499844-80280500:-1;chr11:80281436-82077333:-1;chr11:82077540-85582709:-1;chr11:85584876-86883342:-1;chr11:86884365-90519953:-1;chr11:90521007-134926900:-1;chr14:19000101-107289500:-1;chr18:10001-78017200:-1;chr20:60001-62965000:-1;chr22:16054601-51234500:-1;chrX:2699501-154930300:-1 hs11:71247037-71247037,hs11:61609694-61609694;hs11:77358826-77358826,hs11:85584876-85584876;hs11:65431303-65431303,hs11:63532061-63532061;hs11:62624515-62624515,hs11:80280644-80280644;hs11:71249048-71249048,hs11:59889851-59889851;hs11:90521007-90521007,hs11:77359102-77359102;hs11:78565938-78565938,hs11:86883343-86883343;hs9:138166501-138166501,hs9:138166442-138166442;hs11:63528854-63528854,hs11:86884365-86884365;hs22:49276093-49276093,hs22:49275975-49275975;hs11:82077540-82077540,hs11:80281436-80281436;hs19:21005728-21005728,hs19:21005944-21005944;hs11:63993127-63993127,hs11:62123694-62123694;hs11:79499844-79499844,hs11:69354215-69354215;hs5:70763497-70763497,hs5:70764157-70764157;hs11:59887976-59887976,hs11:85582710-85582710;hs5:91502446-91502446,hs5:91502530-91502530;hs11:62123343-62123343,hs11:82077334-82077334;hs11:68208864-68208864,hs11:90519954-90519954;hs11:63993127-63993127,hs11:62123694-62123694;hs11:65432736-65432736,hs11:63993645-63993645;hs11:61609286-61609286,hs11:62625097-62625097 sFADS2;CCDC83;C11orf95;SLC3A2;TMEM135_ODZ4;TMEM135;ASRGL1;BDP1;LRP5;TRPT1;FADS2_SLC3A2 St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA; Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 6,11 Ependymoma Next Generation Sequencing Homo sapiens ST7 Illumina HighSeq chr2:61586301-61779500:-1;chr3:97275094-97283404:-1;chr4:63432036-63432100:1;chr5:164888567-164995689:-1;chr7:79979905-79979984:1;chr7:159103401-159128500:1;chr9:21333545-24963469:-1 hs11:62493322-62493322,hs11:65384107-65384107;hs11:54928254-54928254,hs11:54929101-54929101;hs9:21333545-21333545,hs9:24963470-24963470;hs3:97275094-97275094,hs3:97283405-97283405;hs11:65384119-65384119,hs6:3457860-3457860;hs11:62493322-62493322,hs11:65384107-65384107;hs11:65430839-65430839,hs11:63533129-63533129;hs11:63533000-63533000,hs11:62493318-62493318;hs16:12002319-12002319,hs16:12002645-12002645;hs5:164888567-164888567,hs5:164995690-164995690;hs11:62493322-62493322,hs11:65384107-65384107;hs7:79979985-79979985,hs7:79979905-79979905;hs11:63533000-63533000,hs11:62493318-62493318;hs11:63533000-63533000,hs11:62493318-62493318;hs18:45333973-45333973,hs1:178469117-178469117;hs11:62572909-62572909,hs6:35436603-35436603;hs4:63432159-63432159,hs4:63432036-63432036;hs11:62572909-62572909,hs6:35436603-35436603;hs11:62493322-62493322,hs11:65384107-65384107;hs6:3457888-3457888,hs11:65430842-65430842 PCNXL3;HNRNPUL2;HNRNPUL2-BSCL2_C11orf95;C11orf95;HNRNPUL2_C11orf95;RPL10A;NXF1;HNRNPUL2-BSCL2 St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA; Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 11 Ependymoma Next Generation Sequencing Homo sapiens ST8 Illumina HighSeq chr2:10001-81600:1;chr3:60201-187500:1;chr7:159106701-159128500:1;chr11:1282285-1283001:-1;chr11:44546631-44546759:-1;chr11:65226635-65226761:-1;chr11:65431401-65432927:-1;chr11:134893601-134946400:1;chr14:107216201-107289500:1;chr18:77999101-78017200:1 hs11:1282285-1282285,hs11:44546760-44546760;hs11:44546631-44546631,hs11:63532380-63532380;hs11:65226763-65226763,hs11:65432928-65432928;hs11:1481510-1481510,hs11:1482374-1482374;hs11:65226635-65226635,hs11:1283002-1283002;hs11:65431350-65431350,hs11:63532607-63532607 MUC5B;C11orf95;BRSK2 St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C1orf95,RELA; Research 24553141 Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014 Feb 4,11 Ependymoma Next Generation Sequencing Homo sapiens ST16 Illumina HighSeq chr1:81217101-81237400:-1;chr1:98589401-98654300:-1;chr2:59847801-59874500:-1;chr2:108558401-108583500:-1;chr2:139818501-139848900:-1;chr3:79636601-79660200:-1;chr3:168690401-168722700:-1;chr4:46101501-46124200:-1;chr4:117824865-117827924:-1;chr5:102843880-102847057:-1;chr6:22580203-22599200:-1;chr10:25623101-25665700:-1;chr10:57239213-57269300:-1;chr11:50539301-50543138:1;chr11:50547301-50566700:-1;chr11:50567567-56288679:-1;chr11:56288680-56289476:-1;chr11:57745112-57745285:-1;chr11:59235143-62303918:-1;chr11:91405151-91405481:-1;chr11:94930463-94931480:-1;chr11:104878828-104879567:-1;chr11:113887101-113887569:-1;chr11:116173026-116173734:-1;chr12:82104001-82131200:-1;chr12:88263601-88271326:-1;chr12:88271390-88290300:-1;chr14:19000101-20208100:-1;chr14:62772301-62808000:-1;chr18:58463901-58490800:-1;chrY:2649501-59033300:-1 hs11:124223124-124223124,hs11:124238938-124238938;hs4:117824865-117824865,hs4:117827925-117827925;hs4:117888344-117888344,hs4:117920171-117920171;hs11:120951839-120951839,hs11:94931481-94931481;hs5:103793701-103793701,hs5:104042547-104042547;hs11:113887570-113887570,hs11:57745286-57745286;hs11:59235143-59235143,hs11:91405482-91405482;hs11:101981768-101981768,hs11:63530974-63530974;hs11:56288680-56288680,hs11:57745112-57745112;hs11:91405151-91405151,hs11:121006568-121006568;hs11:116173026-116173026,hs11:121006909-121006909;hs4:170778649-170778649,hs4:170778917-170778917;hs2:97835742-97835742,hs2:96600330-96600330;hs5:102843880-102843880,hs5:102847058-102847058;hs11:113887041-113887041,hs11:76925957-76925957;hs11:116173735-116173735,hs11:62303919-62303919;hs11:76924222-76924222,hs11:94930463-94930463;hs11:117895034-117895034,hs11:56289477-56289477;hs11:104878828-104878828,hs11:104879568-104879568;hs4:182472980-182472980,hs11:112813940-112813940 SESN3_TBCEL;C11orf95_YAP1;OR8U8;TECTA;ANKRD36;AHNAK;MYO7A_SESN3;LOC100526771_OR8U8;CASP5_CASP5 St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA Members of the nuclear factor-kappaB (NF-kappaB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-kappaB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-kappaB activity in cancer. Here we show that more than two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of canonical NF-kappaB signalling, and an uncharacterized gene, C11orf95. In each case, C11orf95-RELA fusions resulted from chromothripsis involving chromosome 11q13.1. C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-kappaB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. GRCh37/hg19 EGAS00001000254 Yes C11orf95,YAP1;MYO7A,SESN3