Hs03467302_cn

• Gene Symbol: CCDC50
• Assay Reference Genome Location: Chr.3:191338969 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
nsv428428	Chr.3:191219045 - 191497807 on Build GRCh38	Gain	PYDC2 CCDC50 UTS2B OSTN-AS1 OSTN LINCR-0002
esv3599095	Chr.3:191251629 - 191553437 on Build GRCh38	Loss	PYDC2 CCDC50 UTS2B OSTN LINCR-0002
esv2759209	Chr.3:191149222 - 191561318 on Build GRCh38	Gain+Loss	PYDC2 CCDC50 UTS2B OSTN-AS1 OSTN LINCR-0002
nsv4169	Chr.3:191318509 - 191345676 on Build GRCh38	Deletion	CCDC50 UTS2B
nsv998208	Chr.3:191303645 - 191457561 on Build GRCh38	Gain	CCDC50 UTS2B LINCR-0002

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