Hs03349931_cn

• Gene Symbol: UHMK1
• Assay Reference Genome Location: Chr.1:162503131 on build GRCh38
• Cytoband: 1q23.3

Target Gene Details

• Entrez Gene ID: 127933
• Gene Name: U2AF homology motif (UHM) kinase 1
• Gene Aliases: KIS, KIST, P-CIP2
• Location: Chr.1:162497174-162529629 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UHMK1	NM_001184763.1			NP_001171692.1
	NM_144624.2			NP_653225.2
	NM_175866.4			NP_787062.1
	AJ536197.1			CAD60192.1
	AK058195.1
	AK292369.1
	AL834136.1			CAI46199.1
	BC014917.1			AAH14917.1
	BC026046.1			AAH26046.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758973	Chr.1:162094678 - 162533566 on Build GRCh38	Gain	NOS1AP C1orf226 MIR4654 UHMK1 C1orf111 MIR556 SH2D1B
nsv516482	Chr.1:162138329 - 162905405 on Build GRCh38	Gain+Loss	NOS1AP UAP1 CCDC190 C1orf226 MIR4654 UHMK1 C1orf111 MIR556 SH2D1B HSD17B7 DDR2

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase, protein modifying enzyme

Gene Ontology Categories:

Process(es)

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
regulation of alternative mRNA splicing, via spliceosome
cell cycle arrest
peptidyl-serine phosphorylation
neuron projection development
positive regulation of translational initiation
protein autophosphorylation
regulation of protein export from nucleus

Function(s)

mRNA binding
protein serine/threonine kinase activity
protein binding
ATP binding
transferase activity
ribonucleoprotein complex binding