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BAIAP2L1 (BAI1 associated protein 2 like 1)

Identity

Alias_namesBAI1-associated protein 2-like 1
Alias_symbol (synonym)IRTKS
Other alias
HGNC (Hugo) BAIAP2L1
LocusID (NCBI) 55971
Atlas_Id 53465
Location 7q21.3  [Link to chromosome band 7q21]
Location_base_pair Starts at 98291650 and ends at 98401115 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)
APOD (3q29) / BAIAP2L1 (7q21.3)ATP5A1 (18q21.1) / BAIAP2L1 (7q21.3)BAIAP2L1 (7q21.3) / BCAS4 (20q13.13)
BAIAP2L1 (7q21.3) / CBLN4 (20q13.2)BAIAP2L1 (7q21.3) / MET (7q31.2)FGFR3 (4p16.3) / BAIAP2L1 (7q21.3)
HSF1 (8q24.3) / BAIAP2L1 (7q21.3)MCM7 (7q22.1) / BAIAP2L1 (7q21.3)RPS9 (19q13.42) / BAIAP2L1 (7q21.3)
TCAF1 (7q35) / BAIAP2L1 (7q21.3)FGFR3 BAIAP2L1

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 ]
  t(4;7)(p16;q22) FGFR3/BAIAP2L1
t(7;7)(q22;q31) BAIAP2L1/MET


External links

Nomenclature
HGNC (Hugo)BAIAP2L1   21649
Cards
Entrez_Gene (NCBI)BAIAP2L1  55971  BAI1 associated protein 2 like 1
AliasesIRTKS
GeneCards (Weizmann)BAIAP2L1
Ensembl hg19 (Hinxton)ENSG00000006453 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006453 [Gene_View]  ENSG00000006453 [Sequence]  chr7:98291650-98401115 [Contig_View]  BAIAP2L1 [Vega]
ICGC DataPortalENSG00000006453
TCGA cBioPortalBAIAP2L1
AceView (NCBI)BAIAP2L1
Genatlas (Paris)BAIAP2L1
WikiGenes55971
SOURCE (Princeton)BAIAP2L1
Genetics Home Reference (NIH)BAIAP2L1
Genomic and cartography
GoldenPath hg38 (UCSC)BAIAP2L1  -     chr7:98291650-98401115 -  7q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BAIAP2L1  -     7q21.3   [Description]    (hg19-Feb_2009)
EnsemblBAIAP2L1 - 7q21.3 [CytoView hg19]  BAIAP2L1 - 7q21.3 [CytoView hg38]
Mapping of homologs : NCBIBAIAP2L1 [Mapview hg19]  BAIAP2L1 [Mapview hg38]
OMIM611877   
Gene and transcription
Genbank (Entrez)AF119666 AK027109 AK027142 AK074419 AK124269
RefSeq transcript (Entrez)NM_018842
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BAIAP2L1
Cluster EST : UnigeneHs.656063 [ NCBI ]
CGAP (NCI)Hs.656063
Alternative Splicing GalleryENSG00000006453
Gene ExpressionBAIAP2L1 [ NCBI-GEO ]   BAIAP2L1 [ EBI - ARRAY_EXPRESS ]   BAIAP2L1 [ SEEK ]   BAIAP2L1 [ MEM ]
Gene Expression Viewer (FireBrowse)BAIAP2L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55971
GTEX Portal (Tissue expression)BAIAP2L1
Human Protein AtlasENSG00000006453-BAIAP2L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHR4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHR4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHR4
Splice isoforms : SwissVarQ9UHR4
PhosPhoSitePlusQ9UHR4
Domaine pattern : Prosite (Expaxy)IMD (PS51338)    SH3 (PS50002)   
Domains : Interpro (EBI)AH/BAR_dom_sf    I-BAR_dom    IRSp53/IRTKS/Pinkbar    IRTKS    IRTKS_SH3    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)IMD (PF08397)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam08397    pfam14604   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)BAIAP2L1
DMDM Disease mutations55971
Blocks (Seattle)BAIAP2L1
PDB (SRS)2KXC    2LNH   
PDB (PDBSum)2KXC    2LNH   
PDB (IMB)2KXC    2LNH   
PDB (RSDB)2KXC    2LNH   
Structural Biology KnowledgeBase2KXC    2LNH   
SCOP (Structural Classification of Proteins)2KXC    2LNH   
CATH (Classification of proteins structures)2KXC    2LNH   
SuperfamilyQ9UHR4
Human Protein Atlas [tissue]ENSG00000006453-BAIAP2L1 [tissue]
Peptide AtlasQ9UHR4
HPRD11270
IPIIPI00179326   IPI00982289   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHR4
IntAct (EBI)Q9UHR4
FunCoupENSG00000006453
BioGRIDBAIAP2L1
STRING (EMBL)BAIAP2L1
ZODIACBAIAP2L1
Ontologies - Pathways
QuickGOQ9UHR4
Ontology : AmiGOactin binding  protein binding  nucleoplasm  nucleoplasm  cytosol  cytosol  plasma membrane  cell-cell adherens junction  plasma membrane organization  response to bacterium  actin cytoskeleton  actin cytoskeleton  positive regulation of actin filament polymerization  positive regulation of actin filament polymerization  regulation of insulin receptor signaling pathway  actin filament bundle assembly  actin crosslink formation  extracellular exosome  proline-rich region binding  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  positive regulation of actin cytoskeleton reorganization  positive regulation of actin cytoskeleton reorganization  
Ontology : EGO-EBIactin binding  protein binding  nucleoplasm  nucleoplasm  cytosol  cytosol  plasma membrane  cell-cell adherens junction  plasma membrane organization  response to bacterium  actin cytoskeleton  actin cytoskeleton  positive regulation of actin filament polymerization  positive regulation of actin filament polymerization  regulation of insulin receptor signaling pathway  actin filament bundle assembly  actin crosslink formation  extracellular exosome  proline-rich region binding  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  positive regulation of actin cytoskeleton reorganization  positive regulation of actin cytoskeleton reorganization  
NDEx NetworkBAIAP2L1
Atlas of Cancer Signalling NetworkBAIAP2L1
Wikipedia pathwaysBAIAP2L1
Orthology - Evolution
OrthoDB55971
GeneTree (enSembl)ENSG00000006453
Phylogenetic Trees/Animal Genes : TreeFamBAIAP2L1
HOVERGENQ9UHR4
HOGENOMQ9UHR4
Homologs : HomoloGeneBAIAP2L1
Homology/Alignments : Family Browser (UCSC)BAIAP2L1
Gene fusions - Rearrangements
Fusion : MitelmanFGFR3/BAIAP2L1 [4p16.3/7q21.3]  [t(4;7)(p16;q22)]  
Fusion : QuiverBAIAP2L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBAIAP2L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BAIAP2L1
dbVarBAIAP2L1
ClinVarBAIAP2L1
1000_GenomesBAIAP2L1 
Exome Variant ServerBAIAP2L1
ExAC (Exome Aggregation Consortium)ENSG00000006453
GNOMAD BrowserENSG00000006453
Varsome BrowserBAIAP2L1
Genetic variants : HAPMAP55971
Genomic Variants (DGV)BAIAP2L1 [DGVbeta]
DECIPHERBAIAP2L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBAIAP2L1 
Mutations
ICGC Data PortalBAIAP2L1 
TCGA Data PortalBAIAP2L1 
Broad Tumor PortalBAIAP2L1
OASIS PortalBAIAP2L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBAIAP2L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBAIAP2L1
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 BAIAP2L1
DgiDB (Drug Gene Interaction Database)BAIAP2L1
DoCM (Curated mutations)BAIAP2L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BAIAP2L1 (select a term)
intoGenBAIAP2L1
Cancer3DBAIAP2L1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611877   
Orphanet
DisGeNETBAIAP2L1
MedgenBAIAP2L1
Genetic Testing Registry BAIAP2L1
NextProtQ9UHR4 [Medical]
TSGene55971
GENETestsBAIAP2L1
Target ValidationBAIAP2L1
Huge Navigator BAIAP2L1 [HugePedia]
snp3D : Map Gene to Disease55971
BioCentury BCIQBAIAP2L1
ClinGenBAIAP2L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55971
Chemical/Pharm GKB GenePA142672562
Clinical trialBAIAP2L1
Miscellaneous
canSAR (ICR)BAIAP2L1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBAIAP2L1
EVEXBAIAP2L1
GoPubMedBAIAP2L1
iHOPBAIAP2L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:11:08 CEST 2018

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