Hs05873728_cn

• Gene Symbol: ACVR1C
• Assay Reference Genome Location: Chr.2:157529415 on build GRCh38
• Cytoband: 2q24.1

Target Gene Details

• Entrez Gene ID: 130399
• Gene Name: activin A receptor type 1C
• Gene Aliases: ACVRLK7, ALK7
• Location: Chr.2:157526767-157628887 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACVR1C	NM_001111031.1	9	6113	NP_001104501.1
	NM_001111032.1	8	5988	NP_001104502.1
	NM_001111033.1	7	5757	NP_001104503.1
	NM_145259.2	9	6228	NP_660302.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1011505	Chr.2:157303324 - 157624221 on Build GRCh38	Gain	CYTIP ERMN GALNT5 ACVR1C FAM133DP

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

serine/threonine protein kinase receptor

Gene Ontology Categories:

Process(es)

response to dietary excess
protein phosphorylation
response to glucose
lipid storage
signal transduction by protein phosphorylation
cell differentiation
apoptotic nuclear changes
response to insulin
nodal signaling pathway
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
negative regulation of insulin secretion
negative regulation of trophoblast cell migration
negative regulation of chorionic trophoblast cell proliferation

Function(s)

protein serine/threonine kinase activity
receptor signaling protein serine/threonine kinase activity
ATP binding
activin receptor activity, type I
growth factor binding
nodal binding
metal ion binding