ChromothripsisDB: a curated database of chromothripsis
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	Fusion Gene
	PubMed ID: 28126037	Case ID: 28085746_patient	Disease: Multiple congenital abnormalities and/or mental retardation	Genome Assembly: GRCh37/hg19
Gene Symbol 1 Chromosome1 Description 1 Gene Symbol 2 Chromosome2 Description 2

	Affected Gene
	PubMed ID: 28126037	Case ID: 28085746_patient	Disease: Multiple congenital abnormalities and/or mental retardation	Genome Assembly: GRCh37/hg19
Gene Symbol Entrez Gene Chromosome Start End Description AGR3 155465 7 16899029 16921611 anterior gradient 3 AGR2 10551 7 16831435 16873057 anterior gradient 2 TSPAN13 27075 7 16793160 16824161 tetraspanin 13 BZW2 28969 7 16685756 16746148 basic leucine zipper and W2 domains 2 ANKMY2 57037 7 16639401 16685442 ankyrin repeat and MYND domain containing 2 LRRC72 100506049 7 16566505 16621193 leucine rich repeat containing 72 SOSTDC1 25928 7 16501106 16570205 sclerostin domain containing 1 ISPD 729920 7 16130817 16460947 isoprenoid synthase domain containing MEOX2 4223 7 15650837 15726437 mesenchyme homeobox 2 AGMO 392636 7 15239943 15601640 alkylglycerol monooxygenase PPM1H 57460 12 63037762 63328817 protein phosphatase, Mg2+/Mn2+ dependent, 1H MON2 23041 12 62860597 62991363 MON2 homolog (S. cerevisiae) USP15 9958 12 62654119 62811211 ubiquitin specific peptidase 15 FAM19A2 338811 12 62102040 62672931 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 ETV1 2115 7 13930853 14031050 ets variant 1 DPYD 1806 1 97543299 98386605 dihydropyrimidine dehydrogenase FOXP1 27086 3 71003844 71633140 forkhead box P1 CNTN3 5067 3 74311719 74570291 contactin 3 (plasmacytoma associated) PDZRN3 23024 3 73431584 73674091 PDZ domain containing ring finger 3 EBLN2 55096 3 73110810 73112488 endogenous Bornavirus-like nucleoprotein 2 PPP4R2 151987 3 73045936 73118350 protein phosphatase 4, regulatory subunit 2 GXYLT2 727936 3 72937224 73047289 glucoside xylosyltransferase 2 SHQ1 55164 3 72798428 72911065 SHQ1, H/ACA ribonucleoprotein assembly factor RYBP 23429 3 72420976 72496069 RING1 and YY1 binding protein PROK2 60675 3 71820807 71834357 prokineticin 2 GPR27 2850 3 71803201 71805647 G protein-coupled receptor 27 EIF4E3 317649 3 71724567 71803924 eukaryotic translation initiation factor 4E family member 3 HDAC9 9734 7 18126572 19042039 histone deacetylase 9 FERD3L 222894 7 19184405 19185044 Fer3-like bHLH transcription factor TWIST1 7291 7 19060614 19157295 twist family bHLH transcription factor 1 PTBP2 58155 1 97187221 97289294 polypyrimidine tract binding protein 2 RWDD3 25950 1 95699711 95712781 RWD domain containing 3 TMEM56 148534 1 95582894 95663163 transmembrane protein 56 ALG14 199857 1 95439963 95538501 ALG14, UDP-N-acetylglucosaminyltransferase subunit CNN3 1266 1 95362507 95392834 calponin 3, acidic SLC44A3 126969 1 95285898 95360802 solute carrier family 44, member 3 ROBO2 6092 3 75955846 77699115 roundabout, axon guidance receptor, homolog 2 (Drosophila) SRGAP1 57522 12 64238073 64541613 SLIT-ROBO Rho GTPase activating protein 1 TMEM5 10329 12 64173583 64203338 transmembrane protein 5 DPY19L2 283417 12 63952693 64062719 dpy-19-like 2 (C. elegans) AVPR1A 552 12 63539014 63544722 arginine vasopressin receptor 1A ZNF717 100131827 3 75758794 75834734 zinc finger protein 717 THSD7A 221981 7 11409984 11871824 thrombospondin, type I, domain containing 7A TMEM106B 54664 7 12250867 12282993 transmembrane protein 106B VWDE 221806 7 12370511 12443567 von Willebrand factor D and EGF domains SCIN 85477 7 12610203 12693228 scinderin ARL4A 10124 7 12726481 12730559 ADP-ribosylation factor-like 4A DGKB 1607 7 14184674 15014402 diacylglycerol kinase, beta 90kDa AHR 196 7 17338246 17385776 aryl hydrocarbon receptor SNX13 23161 7 17830385 17980124 sorting nexin 13 PRPS1L1 221823 7 18066405 18067486 phosphoribosyl pyrophosphate synthetase 1-like 1 top

Chromothripsis database. 2025 Cai Laboratory