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BABAM1 (BRISC and BRCA1 A complex member 1)

Identity

Alias_namesC19orf62
chromosome 19 open reading frame 62
Alias_symbol (synonym)FLJ20571
HSPC142
NBA1
MERIT40
Other alias
HGNC (Hugo) BABAM1
LocusID (NCBI) 29086
Atlas_Id 52077
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17378185 and ends at 17390162 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BABAM1 (19p13.11) / ACTN1 (14q24.1)BABAM1 (19p13.11) / MALAT1 (11q13.1)BABAM1 (19p13.11) / OCEL1 (19p13.11)
RNF216 (7p22.1) / BABAM1 (19p13.11)

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

 


External links

Nomenclature
HGNC (Hugo)BABAM1   25008
Cards
Entrez_Gene (NCBI)BABAM1  29086  BRISC and BRCA1 A complex member 1
AliasesC19orf62; HSPC142; MERIT40; NBA1
GeneCards (Weizmann)BABAM1
Ensembl hg19 (Hinxton)ENSG00000105393 [Gene_View]  chr19:17378185-17390162 [Contig_View]  BABAM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000105393 [Gene_View]  chr19:17378185-17390162 [Contig_View]  BABAM1 [Vega]
ICGC DataPortalENSG00000105393
TCGA cBioPortalBABAM1
AceView (NCBI)BABAM1
Genatlas (Paris)BABAM1
WikiGenes29086
SOURCE (Princeton)BABAM1
Genetics Home Reference (NIH)BABAM1
Genomic and cartography
GoldenPath hg19 (UCSC)BABAM1  -     chr19:17378185-17390162 +  19p13.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BABAM1  -     19p13.11   [Description]    (hg38-Dec_2013)
EnsemblBABAM1 - 19p13.11 [CytoView hg19]  BABAM1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIBABAM1 [Mapview hg19]  BABAM1 [Mapview hg38]
OMIM612766   
Gene and transcription
Genbank (Entrez)AF161491 AI948445 AJ572521 AK000578 AK025970
RefSeq transcript (Entrez)NM_001033549 NM_001288756 NM_001288757 NM_014173
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)BABAM1
Cluster EST : UnigeneHs.190722 [ NCBI ]
CGAP (NCI)Hs.190722
Alternative Splicing GalleryENSG00000105393
Gene ExpressionBABAM1 [ NCBI-GEO ]   BABAM1 [ EBI - ARRAY_EXPRESS ]   BABAM1 [ SEEK ]   BABAM1 [ MEM ]
Gene Expression Viewer (FireBrowse)BABAM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29086
GTEX Portal (Tissue expression)BABAM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NWV8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NWV8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NWV8
Splice isoforms : SwissVarQ9NWV8
PhosPhoSitePlusQ9NWV8
Domains : Interpro (EBI)BABAM1    VWF_A   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BABAM1
DMDM Disease mutations29086
Blocks (Seattle)BABAM1
SuperfamilyQ9NWV8
Human Protein AtlasENSG00000105393
Peptide AtlasQ9NWV8
HPRD13702
IPIIPI00101987   IPI01011341   IPI00910708   IPI00910550   IPI01011488   
Protein Interaction databases
DIP (DOE-UCLA)Q9NWV8
IntAct (EBI)Q9NWV8
FunCoupENSG00000105393
BioGRIDBABAM1
STRING (EMBL)BABAM1
ZODIACBABAM1
Ontologies - Pathways
QuickGOQ9NWV8
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  cytoplasm  double-strand break repair  double-strand break repair via nonhomologous end joining  mitotic nuclear division  response to ionizing radiation  chromatin modification  G2 DNA damage checkpoint  positive regulation of DNA repair  cell division  BRCA1-A complex  protein K63-linked deubiquitination  BRISC complex  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  cytoplasm  double-strand break repair  double-strand break repair via nonhomologous end joining  mitotic nuclear division  response to ionizing radiation  chromatin modification  G2 DNA damage checkpoint  positive regulation of DNA repair  cell division  BRCA1-A complex  protein K63-linked deubiquitination  BRISC complex  
NDEx NetworkBABAM1
Atlas of Cancer Signalling NetworkBABAM1
Wikipedia pathwaysBABAM1
Orthology - Evolution
OrthoDB29086
GeneTree (enSembl)ENSG00000105393
Phylogenetic Trees/Animal Genes : TreeFamBABAM1
HOVERGENQ9NWV8
HOGENOMQ9NWV8
Homologs : HomoloGeneBABAM1
Homology/Alignments : Family Browser (UCSC)BABAM1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBABAM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BABAM1
dbVarBABAM1
ClinVarBABAM1
1000_GenomesBABAM1 
Exome Variant ServerBABAM1
ExAC (Exome Aggregation Consortium)BABAM1 (select the gene name)
Genetic variants : HAPMAP29086
Genomic Variants (DGV)BABAM1 [DGVbeta]
DECIPHER (Syndromes)19:17378185-17390162  ENSG00000105393
CONAN: Copy Number AnalysisBABAM1 
Mutations
ICGC Data PortalBABAM1 
TCGA Data PortalBABAM1 
Broad Tumor PortalBABAM1
OASIS PortalBABAM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBABAM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBABAM1
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
BioMutasearch BABAM1
DgiDB (Drug Gene Interaction Database)BABAM1
DoCM (Curated mutations)BABAM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BABAM1 (select a term)
intoGenBABAM1
Cancer3DBABAM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612766   
Orphanet
MedgenBABAM1
Genetic Testing Registry BABAM1
NextProtQ9NWV8 [Medical]
TSGene29086
GENETestsBABAM1
Huge Navigator BABAM1 [HugePedia]
snp3D : Map Gene to Disease29086
BioCentury BCIQBABAM1
ClinGenBABAM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29086
Chemical/Pharm GKB GenePA162378767
Clinical trialBABAM1
Miscellaneous
canSAR (ICR)BABAM1 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBABAM1
EVEXBABAM1
GoPubMedBABAM1
iHOPBABAM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:57:15 CET 2017

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