Hs07173481_cn

• Gene Symbol: CDK5RAP1
• Assay Reference Genome Location: Chr.20:33365950 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 51654
• Gene Name: CDK5 regulatory subunit associated protein 1
• Gene Aliases: C20orf34, C42, CGI-05, HSPC167
• Location: Chr.20:33358839-33402768 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDK5RAP1	NM_001278167.1			NP_001265096.1
	NM_001278168.1			NP_001265097.1
	NM_001278169.1			NP_001265098.1
	NM_016082.4			NP_057166.4
	NM_016408.3			NP_057492.2
	XM_011528856.2			XP_011527158.1
	XM_011528857.2			XP_011527159.1
	XM_011528858.1			XP_011527160.1
	XM_011528859.2			XP_011527161.1
	XM_011528860.1			XP_011527162.1
	XM_017027876.1			XP_016883365.1
	XM_017027877.1			XP_016883366.1
	AF152097.1			AAD34147.1
	AF161516.1			AAF29131.1
	AK023992.1			BAB14760.1
	AK027449.1			BAB55120.1
	AK095644.1
	AK222745.1			BAD96465.1
	AK292075.1
	AK295342.1
	AK314532.1
	AY462283.1			AAS18317.1
	AY462284.1			AAS18318.1
	BC001215.1			AAH01215.1
	BC050706.1			AAH50706.1
	BM792566.1
	KU178644.1
	KU178645.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1064413	Chr.20:33348381 - 33599978 on Build GRCh38	Gain	SNTA1 CBFA2T2 CDK5RAP1

More Information

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

Gene Ontology Categories:

Process(es)

brain development
tRNA methylthiolation
regulation of neuron differentiation
negative regulation of cyclin-dependent protein serine/threonine kinase activity

Function(s)

protein kinase regulator activity
protein kinase binding
protein complex binding
methylthiotransferase activity
metal ion binding
4 iron, 4 sulfur cluster binding