Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ACVR1C (activin A receptor type 1C)

Identity

Alias_namesactivin A receptor, type IC
Alias_symbol (synonym)ALK7
ACVRLK7
Other alias
HGNC (Hugo) ACVR1C
LocusID (NCBI) 130399
Atlas_Id 566
Location 2q24.1  [Link to chromosome band 2q24]
Location_base_pair Starts at 157526767 and ends at 157628864 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACVR1C (2q24.1) / MESDC2 (15q25.1)ACVR1C (2q24.1) / MGAT5 (2q21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(2;2)(q21;q24) ACVR1C/MGAT5

External links

Nomenclature
HGNC (Hugo)ACVR1C   18123
Cards
Entrez_Gene (NCBI)ACVR1C  130399  activin A receptor type 1C
AliasesACVRLK7; ALK7
GeneCards (Weizmann)ACVR1C
Ensembl hg19 (Hinxton)ENSG00000123612 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123612 [Gene_View]  ENSG00000123612 [Sequence]  chr2:157526767-157628864 [Contig_View]  ACVR1C [Vega]
ICGC DataPortalENSG00000123612
TCGA cBioPortalACVR1C
AceView (NCBI)ACVR1C
Genatlas (Paris)ACVR1C
WikiGenes130399
SOURCE (Princeton)ACVR1C
Genetics Home Reference (NIH)ACVR1C
Genomic and cartography
GoldenPath hg38 (UCSC)ACVR1C  -     chr2:157526767-157628864 -  2q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACVR1C  -     2q24.1   [Description]    (hg19-Feb_2009)
GoldenPathACVR1C - 2q24.1 [CytoView hg19]  ACVR1C - 2q24.1 [CytoView hg38]
Genome Data Viewer NCBIACVR1C [Mapview hg19]  
OMIM608981   
Gene and transcription
Genbank (Entrez)AF525679 AF525680 AF525681 AW014016 AY127050
RefSeq transcript (Entrez)NM_001111031 NM_001111032 NM_001111033 NM_145259
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACVR1C
Alternative Splicing GalleryENSG00000123612
Gene ExpressionACVR1C [ NCBI-GEO ]   ACVR1C [ EBI - ARRAY_EXPRESS ]   ACVR1C [ SEEK ]   ACVR1C [ MEM ]
Gene Expression Viewer (FireBrowse)ACVR1C [ Firebrowse - Broad ]
GenevisibleExpression of ACVR1C in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)130399
GTEX Portal (Tissue expression)ACVR1C
Human Protein AtlasENSG00000123612-ACVR1C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NER5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NER5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NER5
Splice isoforms : SwissVarQ8NER5
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ8NER5
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)GS_dom    Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    Ser/Thr_kinase_AS    TGFB_receptor   
Domain families : Pfam (Sanger)Pkinase_Tyr (PF07714)    TGF_beta_GS (PF08515)   
Domain families : Pfam (NCBI)pfam07714    pfam08515   
Domain families : Smart (EMBL)GS (SM00467)  S_TKc (SM00220)  
Conserved Domain (NCBI)ACVR1C
DMDM Disease mutations130399
SuperfamilyQ8NER5
Human Protein Atlas [tissue]ENSG00000123612-ACVR1C [tissue]
Peptide AtlasQ8NER5
HPRD10608
IPIIPI00302552   IPI00384221   IPI00384222   IPI00654757   
Protein Interaction databases
DIP (DOE-UCLA)Q8NER5
IntAct (EBI)Q8NER5
FunCoupENSG00000123612
BioGRIDACVR1C
STRING (EMBL)ACVR1C
ZODIACACVR1C
Ontologies - Pathways
QuickGOQ8NER5
Ontology : AmiGOtrophectodermal cell proliferation  response to dietary excess  protein serine/threonine kinase activity  protein serine/threonine kinase activity  ATP binding  plasma membrane  plasma membrane  protein phosphorylation  protein phosphorylation  nervous system development  response to glucose  activin receptor activity, type I  activin receptor activity, type I  growth factor binding  lipid storage  cell differentiation  apoptotic nuclear changes  response to insulin  activin receptor signaling pathway  nodal signaling pathway  nodal binding  positive regulation of apoptotic process  receptor complex  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  negative regulation of insulin secretion  metal ion binding  activin receptor complex  activin receptor complex  cellular response to growth factor stimulus  negative regulation of trophoblast cell migration  negative regulation of chorionic trophoblast cell proliferation  
Ontology : EGO-EBItrophectodermal cell proliferation  response to dietary excess  protein serine/threonine kinase activity  protein serine/threonine kinase activity  ATP binding  plasma membrane  plasma membrane  protein phosphorylation  protein phosphorylation  nervous system development  response to glucose  activin receptor activity, type I  activin receptor activity, type I  growth factor binding  lipid storage  cell differentiation  apoptotic nuclear changes  response to insulin  activin receptor signaling pathway  nodal signaling pathway  nodal binding  positive regulation of apoptotic process  receptor complex  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  negative regulation of insulin secretion  metal ion binding  activin receptor complex  activin receptor complex  cellular response to growth factor stimulus  negative regulation of trophoblast cell migration  negative regulation of chorionic trophoblast cell proliferation  
Pathways : KEGGTGF-beta signaling pathway   
NDEx NetworkACVR1C
Atlas of Cancer Signalling NetworkACVR1C
Wikipedia pathwaysACVR1C
Orthology - Evolution
OrthoDB130399
GeneTree (enSembl)ENSG00000123612
Phylogenetic Trees/Animal Genes : TreeFamACVR1C
HOGENOMQ8NER5
Homologs : HomoloGeneACVR1C
Homology/Alignments : Family Browser (UCSC)ACVR1C
Gene fusions - Rearrangements
Fusion : MitelmanACVR1C/MGAT5 [2q24.1/2q21.2]  
Fusion : QuiverACVR1C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACVR1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACVR1C
dbVarACVR1C
ClinVarACVR1C
1000_GenomesACVR1C 
Exome Variant ServerACVR1C
GNOMAD BrowserENSG00000123612
Varsome BrowserACVR1C
Genetic variants : HAPMAP130399
Genomic Variants (DGV)ACVR1C [DGVbeta]
DECIPHERACVR1C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACVR1C 
Mutations
ICGC Data PortalACVR1C 
TCGA Data PortalACVR1C 
Broad Tumor PortalACVR1C
OASIS PortalACVR1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACVR1C  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACVR1C
Mutations and Diseases : HGMDACVR1C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutaselect ACVR1C
DgiDB (Drug Gene Interaction Database)ACVR1C
DoCM (Curated mutations)ACVR1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACVR1C (select a term)
intoGenACVR1C
Cancer3DACVR1C (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608981   
Orphanet
DisGeNETACVR1C
MedgenACVR1C
Genetic Testing Registry ACVR1C
NextProtQ8NER5 [Medical]
TSGene130399
GENETestsACVR1C
Open Targets GeneticsENSG00000123612  [validation]
snp3D : Map Gene to Disease130399
BioCentury BCIQACVR1C
ClinGenACVR1C
Clinical trials, drugs, therapy
Protein Interactions : CTD130399
Pharm GKB GenePA134908988
Clinical trialACVR1C
Miscellaneous
canSAR (ICR)ACVR1C (select the gene name)
HarmonizomeACVR1C
DataMed IndexACVR1C
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACVR1C
EVEXACVR1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 19:37:48 CEST 2020
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