ChromothripsisDB: a curated database of chromothripsis
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	Fusion Gene
	PubMed ID: 25662009	Case ID: WHIM-09	Disease: WHIM syndrome	Genome Assembly: GRCh37/hg19
Gene Symbol 1 Chromosome1 Description 1 Gene Symbol 2 Chromosome2 Description 2

	Affected Gene
	PubMed ID: 25662009	Case ID: WHIM-09	Disease: WHIM syndrome	Genome Assembly: GRCh37/hg19
Gene Symbol Entrez Gene Chromosome Start End Description ACMSD 130013 2 135596117 135659604 aminocarboxymuconate semialdehyde decarboxylase ACVR1 90 2 158592958 158732374 activin A receptor, type I ACVR1C 130399 2 158383279 158485517 activin A receptor, type IC ADAM17 6868 2 9628615 9695921 ADAM metallopeptidase domain 17 ADCY3 109 2 25042038 25142708 adenylate cyclase 3 ANKRD30BL 554226 2 132905164 133015542 ankyrin repeat domain 30B-like APOB 338 2 21224301 21266945 apolipoprotein B ASXL2 55252 2 25956622 26101385 additional sex combs like transcriptional regulator 2 ATP6V1C2 245973 2 10861775 10925236 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 BAZ2B 29994 2 160175490 160473203 bromodomain adjacent to zinc finger domain, 2B C2orf43 60526 2 20883788 21022882 chromosome 2 open reading frame 43 C2orf44 80304 2 24252210 24272445 chromosome 2 open reading frame 44 C2orf49 79074 2 105953816 105965668 chromosome 2 open reading frame 49 C2orf50 130813 2 11273179 11286916 chromosome 2 open reading frame 50 CCDC148 130940 2 159027593 159313265 coiled-coil domain containing 148 CCNT2 905 2 135675805 135716912 cyclin T2 CD302 9936 2 160625364 160654753 CD302 molecule CENPO 79172 2 25016005 25045245 centromere protein O CXCR4 7852 2 136871919 136875735 chemokine (C-X-C motif) receptor 4 CYS1 192668 2 10196907 10221071 cystin 1 CYTIP 9595 2 158271131 158345473 cytohesin 1 interacting protein DAPL1 92196 2 159651829 159719293 death associated protein-like 1 DARS 1615 2 136664247 136743670 aspartyl-tRNA synthetase DDX1 1653 2 15731302 15771235 DEAD (Asp-Glu-Ala-Asp) box helicase 1 DNAJC27 51277 2 25166505 25194963 DnaJ (Hsp40) homolog, subfamily C, member 27 DNMT3A 1788 2 25455845 25565459 DNA (cytosine-5-)-methyltransferase 3 alpha DPP4 1803 2 162848751 162931052 dipeptidyl-peptidase 4 DTNB 1838 2 25600067 25896503 dystrobrevin, beta E2F6 1876 2 11584501 11606297 E2F transcription factor 6 EFR3B 22979 2 25264999 25378243 EFR3 homolog B (S. cerevisiae) ERMN 57471 2 158175137 158184225 ermin, ERM-like protein FAM49A 81553 2 16730727 16847599 family with sequence similarity 49, member A FAM84A 151354 2 14772810 14790933 family with sequence similarity 84, member A FAP 2191 2 163027194 163101661 fibroblast activation protein, alpha FHL2 2274 2 105974169 106054970 four and a half LIM domains 2 FIGN 55137 2 164449906 164592522 fidgetin FKBP1B 2281 2 24272571 24286551 FK506 binding protein 1B, 12.6 kDa GALNT13 114805 2 154728426 155310361 polypeptide N-acetylgalactosaminyltransferase 13 GALNT5 11227 2 158114110 158170723 polypeptide N-acetylgalactosaminyltransferase 5 GCA 25801 2 163175350 163228105 grancalcin, EF-hand calcium binding protein GCG 2641 2 162999392 163008914 glucagon GDF7 151449 2 20866424 20873418 growth differentiation factor 7 GEN1 348654 2 17935125 17966632 GEN1 Holliday junction 5' flap endonuclease GPR39 2863 2 133174147 133404132 G protein-coupled receptor 39 GPR45 11250 2 105858200 105859924 G protein-coupled receptor 45 GREB1 9687 2 11674242 11782914 growth regulation by estrogen in breast cancer 1 GRHL1 29841 2 10085341 10142411 grainyhead-like 1 (Drosophila) HPCAL1 3241 2 10443015 10567743 hippocalcin-like 1 HS1BP3 64342 2 20760208 20850849 HCLS1 binding protein 3 IFIH1 64135 2 163123589 163175213 interferon induced with helicase C domain 1 IL18R1 8809 2 102927989 103015218 interleukin 18 receptor 1 IL18RAP 8807 2 103035149 103069025 interleukin 18 receptor accessory protein IL1R1 3554 2 102681004 102796334 interleukin 1 receptor, type I IL1R2 7850 2 102608306 102645006 interleukin 1 receptor, type II IL1RL1 9173 2 102927962 102968497 interleukin 1 receptor-like 1 IL1RL2 8808 2 102803433 102856462 interleukin 1 receptor-like 2 ITGB6 3694 2 160956177 161128399 integrin, beta 6 ITSN2 50618 2 24425733 24583583 intersectin 2 KCNF1 3754 2 11052063 11054350 potassium channel, voltage gated modifier subfamily F, member 1 KCNH7 90134 2 163227917 163695240 potassium channel, voltage gated eag related subfamily H, member 7 KCNJ3 3760 2 155554811 155714863 potassium channel, inwardly rectifying subfamily J, member 3 KCNS3 3790 2 18059114 18542882 potassium voltage-gated channel, modifier subfamily S, member 3 KIF3C 3797 2 26149471 26205618 kinesin family member 3C KLF11 8462 2 10182976 10194963 Kruppel-like factor 11 LAPTM4A 9741 2 20232411 20251789 lysosomal protein transmembrane 4 alpha LCT 3938 2 136545410 136594750 lactase LPIN1 23175 2 11817721 11967535 lipin 1 LY75 4065 2 160628362 160761260 lymphocyte antigen 75 LYPD1 116372 2 133402426 133429152 LY6/PLAUR domain containing 1 MAP4K4 9448 2 102313312 102511149 mitogen-activated protein kinase kinase kinase kinase 4 MARCH7 64844 2 160569000 160627538 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase MATN3 4148 2 20191872 20212455 matrilin 3 MCM6 4175 2 136597196 136633996 minichromosome maintenance complex component 6 MFSD2B 388931 2 24232951 24286191 major facilitator superfamily domain containing 2B MFSD9 84804 2 103332299 103353347 major facilitator superfamily domain containing 9 MGAT5 4249 2 134877554 135212192 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase MRPS9 64965 2 105654441 105716418 mitochondrial ribosomal protein S9 MSGN1 343930 2 17997763 17998368 mesogenin 1 MYCN 4613 2 16080686 16087129 v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog NBAS 51594 2 15307032 15701454 neuroblastoma amplified sequence NCKAP5 344148 2 133429374 134326034 NCK-associated protein 5 NCOA1 8648 2 24714783 24993571 nuclear receptor coactivator 1 NOL10 79954 2 10710892 10830101 nucleolar protein 10 NT5C1B 93034 2 18737050 18770838 5'-nucleotidase, cytosolic IB NTSR2 23620 2 11798304 11810290 neurotensin receptor 2 ODC1 4953 2 10580094 10588630 ornithine decarboxylase 1 OSR1 130497 2 19551246 19558414 odd-skipped related transciption factor 1 PDIA6 10130 2 10923517 10978103 protein disulfide isomerase family A, member 6 PFN4 375189 2 24338241 24346347 profilin family, member 4 PKP4 8502 2 159313476 159539391 plakophilin 4 PLA2R1 22925 2 160788519 160919121 phospholipase A2 receptor 1, 180kDa POMC 5443 2 25383722 25391772 proopiomelanocortin POU3F3 5455 2 105471969 105476929 POU class 3 homeobox 3 PQLC3 130814 2 11295324 11319000 PQ loop repeat containing 3 PSMD14 10213 2 162164549 162268228 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 PTRHD1 391356 2 25012603 25016251 peptidyl-tRNA hydrolase domain containing 1 PUM2 23369 2 20448452 20551995 pumilio RNA-binding family member 2 R3HDM1 23518 2 136289025 136482840 R3H domain containing 1 RAB3GAP1 22930 2 135809835 135933964 RAB3 GTPase activating protein subunit 1 (catalytic) RAD51AP2 729475 2 17691851 17699706 RAD51 associated protein 2 RBMS1 5937 2 161128662 161350305 RNA binding motif, single stranded interacting protein 1 RDH14 57665 2 18735989 18741946 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) RHOB 388 2 20646835 20649200 ras homolog family member B ROCK2 9475 2 11319887 11488456 Rho-associated, coiled-coil containing protein kinase 2 RRM2 6241 2 10262455 10271545 ribonucleotide reductase M2 SDC1 6382 2 20400558 20425194 syndecan 1 SLC4A10 57282 2 162280843 162841792 solute carrier family 4, sodium bicarbonate transporter, member 10 SLC9A2 6549 2 103236166 103327777 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 SLC9A4 389015 2 103089762 103150431 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 SMC6 79677 2 17845079 17981509 structural maintenance of chromosomes 6 TAF1B 9014 2 9983483 10074545 TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa TANC1 85461 2 159825146 160089170 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 TANK 10010 2 161993419 162092732 TRAF family member-associated NFKB activator TBR1 10716 2 162272605 162282381 T-box, brain, 1 TGFBRAP1 9392 2 105880871 105946491 transforming growth factor, beta receptor associated protein 1 TMEM163 81615 2 135213330 135476570 transmembrane protein 163 TMEM182 130827 2 103353367 103460352 transmembrane protein 182 TP53I3 9540 2 24300303 24308731 tumor protein p53 inducible protein 3 TRIB2 28951 2 12857015 12882860 tribbles pseudokinase 2 TTC32 130502 2 20096404 20101747 tetratricopeptide repeat domain 32 UBXN4 23190 2 136499189 136542625 UBX domain protein 4 UPP2 151531 2 158733214 158992666 uridine phosphorylase 2 VSNL1 7447 2 17720393 17838285 visinin-like 1 WDR35 57539 2 20110021 20189892 WD repeat domain 35 WDSUB1 151525 2 160092304 160143310 WD repeat, sterile alpha motif and U-box domain containing 1 YWHAQ 10971 2 9724101 9771143 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ZRANB3 84083 2 135894486 136288806 zinc finger, RAN-binding domain containing 3 top

Chromothripsis database. 2025 Cai Laboratory