Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACVR1B (activin A receptor type 1B)

Identity

Other namesACTRIB
ACVRLK4
ALK4
SKR2
HGNC (Hugo) ACVR1B
LocusID (NCBI) 91
Atlas_Id 565
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 52345451 and ends at 52390863 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BAZ2A (12q13.3) / ACVR1B (12q13.13)TNS2 (12q13.13) / ACVR1B (12q13.13)BAZ2A 12q13.3 / ACVR1B 12q13.13
TENC1 ACVR1B 12q13.13

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) [ 0 ]
  Colon: Colorectal adenocarcinoma

External links

Nomenclature
HGNC (Hugo)ACVR1B   172
Cards
Entrez_Gene (NCBI)ACVR1B  91  activin A receptor type 1B
AliasesACTRIB; ACVRLK4; ALK4; SKR2
GeneCards (Weizmann)ACVR1B
Ensembl hg19 (Hinxton)ENSG00000135503 [Gene_View]  chr12:52345451-52390863 [Contig_View]  ACVR1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000135503 [Gene_View]  chr12:52345451-52390863 [Contig_View]  ACVR1B [Vega]
ICGC DataPortalENSG00000135503
TCGA cBioPortalACVR1B
AceView (NCBI)ACVR1B
Genatlas (Paris)ACVR1B
WikiGenes91
SOURCE (Princeton)ACVR1B
Genomic and cartography
GoldenPath hg19 (UCSC)ACVR1B  -     chr12:52345451-52390863 +  12q13.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACVR1B  -     12q13.13   [Description]    (hg38-Dec_2013)
EnsemblACVR1B - 12q13.13 [CytoView hg19]  ACVR1B - 12q13.13 [CytoView hg38]
Mapping of homologs : NCBIACVR1B [Mapview hg19]  ACVR1B [Mapview hg38]
OMIM601300   
Gene and transcription
Genbank (Entrez)AK299120 AK299496 AL117643 BC000254 BC034008
RefSeq transcript (Entrez)NM_004302 NM_020327 NM_020328
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_022926 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)ACVR1B
Cluster EST : UnigeneHs.438918 [ NCBI ]
CGAP (NCI)Hs.438918
Alternative Splicing GalleryENSG00000135503
Gene ExpressionACVR1B [ NCBI-GEO ]   ACVR1B [ EBI - ARRAY_EXPRESS ]   ACVR1B [ SEEK ]   ACVR1B [ MEM ]
Gene Expression Viewer (FireBrowse)ACVR1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91
GTEX Portal (Tissue expression)ACVR1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36896 (Uniprot)
NextProtP36896  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36896
Splice isoforms : SwissVarP36896 (Swissvar)
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 ]   
PhosPhoSitePlusP36896
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Activin_recp    GS_dom    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    TGFB_receptor   
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)    TGF_beta_GS (PF08515)   
Domain families : Pfam (NCBI)pfam01064    pfam00069    pfam08515   
Domain families : Smart (EMBL)GS (SM00467)  
DMDM Disease mutations91
Blocks (Seattle)ACVR1B
SuperfamilyP36896
Human Protein AtlasENSG00000135503
Peptide AtlasP36896
HPRD03193
IPIIPI00005732   IPI00218980   IPI00297220   IPI00922639   IPI01014752   IPI00793921   
Protein Interaction databases
DIP (DOE-UCLA)P36896
IntAct (EBI)P36896
FunCoupENSG00000135503
BioGRIDACVR1B
STRING (EMBL)ACVR1B
ZODIACACVR1B
Ontologies - Pathways
QuickGOP36896
Ontology : AmiGOG1/S transition of mitotic cell cycle  in utero embryonic development  hair follicle development  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  protein binding  ATP binding  plasma membrane  integral component of plasma membrane  regulation of transcription, DNA-templated  protein phosphorylation  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  central nervous system development  cell surface  negative regulation of gene expression  positive regulation of pathway-restricted SMAD protein phosphorylation  activin receptor activity, type I  activin receptor activity, type I  activin-activated receptor activity  peptidyl-threonine phosphorylation  growth factor binding  signal transduction by protein phosphorylation  negative regulation of cell growth  ubiquitin protein ligase binding  activin receptor signaling pathway  activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  inhibin binding  nodal signaling pathway  receptor complex  positive regulation of erythrocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  development of primary female sexual characteristics  protein autophosphorylation  metal ion binding  activin receptor complex  activin binding  extracellular exosome  extrinsic apoptotic signaling pathway  positive regulation of trophoblast cell migration  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  in utero embryonic development  hair follicle development  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  protein binding  ATP binding  plasma membrane  integral component of plasma membrane  regulation of transcription, DNA-templated  protein phosphorylation  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  central nervous system development  cell surface  negative regulation of gene expression  positive regulation of pathway-restricted SMAD protein phosphorylation  activin receptor activity, type I  activin receptor activity, type I  activin-activated receptor activity  peptidyl-threonine phosphorylation  growth factor binding  signal transduction by protein phosphorylation  negative regulation of cell growth  ubiquitin protein ligase binding  activin receptor signaling pathway  activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  inhibin binding  nodal signaling pathway  receptor complex  positive regulation of erythrocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  development of primary female sexual characteristics  protein autophosphorylation  metal ion binding  activin receptor complex  activin binding  extracellular exosome  extrinsic apoptotic signaling pathway  positive regulation of trophoblast cell migration  
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway   
NDEx NetworkACVR1B
Atlas of Cancer Signalling NetworkACVR1B
Wikipedia pathwaysACVR1B
Orthology - Evolution
OrthoDB91
GeneTree (enSembl)ENSG00000135503
Phylogenetic Trees/Animal Genes : TreeFamACVR1B
Homologs : HomoloGeneACVR1B
Homology/Alignments : Family Browser (UCSC)ACVR1B
Gene fusions - Rearrangements
Fusion: TCGABAZ2A 12q13.3 ACVR1B 12q13.13 LUAD
Fusion: TCGATENC1 ACVR1B 12q13.13 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerACVR1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACVR1B
dbVarACVR1B
ClinVarACVR1B
1000_GenomesACVR1B 
Exome Variant ServerACVR1B
ExAC (Exome Aggregation Consortium)ACVR1B (select the gene name)
Genetic variants : HAPMAP91
Genomic Variants (DGV)ACVR1B [DGVbeta]
Mutations
ICGC Data PortalACVR1B 
TCGA Data PortalACVR1B 
Broad Tumor PortalACVR1B
OASIS PortalACVR1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACVR1B 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ACVR1B
DgiDB (Drug Gene Interaction Database)ACVR1B
DoCM (Curated mutations)ACVR1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACVR1B (select a term)
intoGenACVR1B
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:52345451-52390863  ENSG00000135503
CONAN: Copy Number AnalysisACVR1B 
Mutations and Diseases : HGMDACVR1B
OMIM601300   
MedgenACVR1B
Genetic Testing Registry ACVR1B
NextProtP36896 [Medical]
TSGene91
GENETestsACVR1B
Huge Navigator ACVR1B [HugePedia]
snp3D : Map Gene to Disease91
BioCentury BCIQACVR1B
ClinGenACVR1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91
Chemical/Pharm GKB GenePA24493
Clinical trialACVR1B
Miscellaneous
canSAR (ICR)ACVR1B (select the gene name)
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACVR1B
EVEXACVR1B
GoPubMedACVR1B
iHOPACVR1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:35:03 CEST 2016

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