ChromothripsisDB: a curated database of chromothripsis
 
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  Fusion Gene
  PubMed ID: 26871565 Case ID: 26871565_1 Disease: Developmental delay and dysmorphism Genome Assembly: GRCh37/hg19
Gene Symbol 1 Chromosome1 Description 1 Gene Symbol 2 Chromosome2 Description 2
 
 
  Affected Gene
  PubMed ID: 26871565 Case ID: 26871565_1 Disease: Developmental delay and dysmorphism Genome Assembly: GRCh37/hg19
Gene Symbol Entrez Gene Chromosome Start End Description
ATP6AP2 10159 X 40580964 40606637 ATPase, H+ transporting, lysosomal accessory protein 2
BCOR 54880 X 40051246 40177390 BCL6 corepressor
BMP15 9210 X 50910735 50916641 bone morphogenetic protein 15
CACNA1F 778 X 49205063 49233671 calcium channel, voltage-dependent, L type, alpha 1F subunit
CASK 8573 X 41514934 41923078 calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CFP 5199 X 47624213 47630305 complement factor properdin
CLCN5 1184 X 49922615 50099235 chloride channel, voltage-sensitive 5
CYBB 1536 X 37780017 37813465 cytochrome b-245, beta polypeptide
DIAPH2 1730 X 96684663 97600598 diaphanous-related formin 2
DMD 1756 X 31119219 33339609 dystrophin
FGD1 2245 X 54445454 54496166 FYVE, RhoGEF and PH domain containing 1
FOXP3 50943 X 49250436 49269727 forkhead box P3
GK 2710 X 30653359 30731462 glycerol kinase
HSD17B10 3028 X 53431258 53434376 hydroxysteroid (17-beta) dehydrogenase 10
HUWE1 10075 X 53532096 53686729 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IL1RAPL1 11141 X 28587564 29956350 interleukin 1 receptor accessory protein-like 1
IQSEC2 23096 X 53227454 53321350 IQ motif and Sec7 domain 2
KDM5C 8242 X 53158726 53225422 lysine (K)-specific demethylase 5C
KDM6A 7403 X 44873175 45112779 lysine (K)-specific demethylase 6A
MAOA 4128 X 43654907 43746824 monoamine oxidase A
NDP 4693 X 43948776 43973675 Norrie disease (pseudoglioma)
NYX 60506 X 41445637 41476421 nyctalopin
OTC 5009 X 38352483 38421450 ornithine carbamoyltransferase
PHF8 23133 X 53936680 54048935 PHD finger protein 8
RBM10 8241 X 47145218 47186815 RNA binding motif protein 10
RP2 6102 X 46836912 46882358 retinitis pigmentosa 2 (X-linked recessive)
RPGR 6103 X 38269170 38327564 retinitis pigmentosa GTPase regulator
SRPX2 27286 X 100644166 100671299 sushi-repeat containing protein, X-linked 2
SYN1 6853 X 47571901 47619857 synapsin I
TSPAN7 7102 X 38561478 38688918 tetraspanin 7
UBA1 7317 X 47190800 47215128 ubiquitin-like modifier activating enzyme 1
USP9X 8239 X 41085433 41236579 ubiquitin specific peptidase 9, X-linked
XK 7504 X 37685781 37732130 X-linked Kx blood group
ZNF81 347344 X 47836871 47925624 zinc finger protein 81
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Chromothripsis database. 2025 Cai Laboratory