Hs03455923_cn

• Gene Symbol: CCDC50
• Assay Reference Genome Location: Chr.3:191346502 on build GRCh38
• Cytoband: 3q28

Target Gene Details

• Entrez Gene ID: 152137
• Gene Name: coiled-coil domain containing 50
• Gene Aliases: C3orf6, DFNA44, YMER
• Location: Chr.3:191329082-191398670 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC50	NM_174908.3			NP_777568.1
	NM_178335.2			NP_848018.1
	XM_011512460.1			XP_011510762.1
	AJ416916.2			CAC95196.1
	AJ557013.1			CAD89526.1
	BC065004.1			AAH65004.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv592824	Chr.3:191343425 - 191355439 on Build GRCh38	Gain+Loss	CCDC50
nsv428428	Chr.3:191219045 - 191497807 on Build GRCh38	Gain	LINCR-0002 OSTN-AS1 PYDC2 UTS2B OSTN CCDC50
dgv79n17	Chr.3:191345954 - 191355439 on Build GRCh38	Loss	CCDC50
esv3599095	Chr.3:191251629 - 191553437 on Build GRCh38	Loss	LINCR-0002 PYDC2 UTS2B OSTN CCDC50
esv3563095	Chr.3:191346212 - 191354211 on Build GRCh38	Deletion	CCDC50
esv2759209	Chr.3:191149222 - 191561318 on Build GRCh38	Gain+Loss	LINCR-0002 OSTN-AS1 PYDC2 UTS2B OSTN CCDC50
nsv10371	Chr.3:191346459 - 191354045 on Build GRCh38	Gain+Loss	CCDC50
nsv508266	Chr.3:191346423 - 191365848 on Build GRCh38	Deletion	CCDC50
nsv998208	Chr.3:191303645 - 191457561 on Build GRCh38	Gain	LINCR-0002 UTS2B CCDC50
nsv965411	Chr.3:191346443 - 191353939 on Build GRCh38	Deletion	CCDC50
dgv632n27	Chr.3:191341533 - 191355439 on Build GRCh38	Loss	CCDC50

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

sensory perception of sound

Function(s)

protein binding
ubiquitin protein ligase binding