ChromothripsisDB: a curated database of chromothripsis
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	Fusion Gene
	PubMed ID: 24143197	Case ID: mother	Disease: Cri-du-chat syndrome	Genome Assembly: GRCh37/hg19
Gene Symbol 1 Chromosome1 Description 1 Gene Symbol 2 Chromosome2 Description 2

	Affected Gene
	PubMed ID: 24143197	Case ID: mother	Disease: Cri-du-chat syndrome	Genome Assembly: GRCh37/hg19
Gene Symbol Entrez Gene Chromosome Start End Description ADAMTS16 170690 5 5140443 5320417 ADAM metallopeptidase with thrombospondin type 1 motif, 16 MED10 84246 5 6371994 6378707 mediator complex subunit 10 UBE2QL1 134111 5 6448736 6495022 ubiquitin-conjugating enzyme E2Q family-like 1 NSUN2 54888 5 6599352 6633404 NOP2/Sun RNA methyltransferase family, member 2 SRD5A1 6715 5 6633456 6669675 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) PAPD7 11044 5 6714718 6757161 PAP associated domain containing 7

Chromothripsis database. 2025 Cai Laboratory