Atlas of Genetics and Cytogenetics in Oncology and Haematology


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IGSF1 (immunoglobulin superfamily member 1)

Identity

Alias_namesimmunoglobulin superfamily
Alias_symbol (synonym)KIAA0364
IGDC1
IGCD1
INHBP
MGC75490
PGSF2
Other aliasCHTE
p120
HGNC (Hugo) IGSF1
LocusID (NCBI) 3547
Atlas_Id 55381
Location Xq26.1  [Link to chromosome band Xq26]
Location_base_pair Starts at 131273506 and ends at 131289429 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
IGSF1 (Xq26.2) / GPR39 (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

 


External links

Nomenclature
HGNC (Hugo)IGSF1   5948
LRG (Locus Reference Genomic)LRG_840
Cards
Entrez_Gene (NCBI)IGSF1  3547  immunoglobulin superfamily member 1
AliasesCHTE; IGCD1; IGDC1; INHBP; 
PGSF2; p120
GeneCards (Weizmann)IGSF1
Ensembl hg19 (Hinxton)ENSG00000147255 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147255 [Gene_View]  chrX:131273506-131289429 [Contig_View]  IGSF1 [Vega]
ICGC DataPortalENSG00000147255
TCGA cBioPortalIGSF1
AceView (NCBI)IGSF1
Genatlas (Paris)IGSF1
WikiGenes3547
SOURCE (Princeton)IGSF1
Genetics Home Reference (NIH)IGSF1
Genomic and cartography
GoldenPath hg38 (UCSC)IGSF1  -     chrX:131273506-131289429 -  Xq26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IGSF1  -     Xq26.1   [Description]    (hg19-Feb_2009)
EnsemblIGSF1 - Xq26.1 [CytoView hg19]  IGSF1 - Xq26.1 [CytoView hg38]
Mapping of homologs : NCBIIGSF1 [Mapview hg19]  IGSF1 [Mapview hg38]
OMIM300137   300888   
Gene and transcription
Genbank (Entrez)AB058894 AF034198 AK057916 AK226008 AK295438
RefSeq transcript (Entrez)NM_001170961 NM_001170962 NM_001170963 NM_001555 NM_205833
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IGSF1
Cluster EST : UnigeneHs.22111 [ NCBI ]
CGAP (NCI)Hs.22111
Alternative Splicing GalleryENSG00000147255
Gene ExpressionIGSF1 [ NCBI-GEO ]   IGSF1 [ EBI - ARRAY_EXPRESS ]   IGSF1 [ SEEK ]   IGSF1 [ MEM ]
Gene Expression Viewer (FireBrowse)IGSF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3547
GTEX Portal (Tissue expression)IGSF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N6C5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N6C5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N6C5
Splice isoforms : SwissVarQ8N6C5
PhosPhoSitePlusQ8N6C5
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_sub    Ig_sub2    Immunoglobulin   
Domain families : Pfam (Sanger)ig (PF00047)    Ig_2 (PF13895)   
Domain families : Pfam (NCBI)pfam00047    pfam13895   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)IGSF1
DMDM Disease mutations3547
Blocks (Seattle)IGSF1
SuperfamilyQ8N6C5
Human Protein AtlasENSG00000147255
Peptide AtlasQ8N6C5
HPRD02138
IPIIPI00043215   IPI00515081   IPI00166985   IPI00939931   
Protein Interaction databases
DIP (DOE-UCLA)Q8N6C5
IntAct (EBI)Q8N6C5
FunCoupENSG00000147255
BioGRIDIGSF1
STRING (EMBL)IGSF1
ZODIACIGSF1
Ontologies - Pathways
QuickGOQ8N6C5
Ontology : AmiGOreceptor activity  protein binding  extracellular region  regulation of transcription, DNA-templated  signal transduction  coreceptor activity  membrane  integral component of membrane  inhibin binding  
Ontology : EGO-EBIreceptor activity  protein binding  extracellular region  regulation of transcription, DNA-templated  signal transduction  coreceptor activity  membrane  integral component of membrane  inhibin binding  
NDEx NetworkIGSF1
Atlas of Cancer Signalling NetworkIGSF1
Wikipedia pathwaysIGSF1
Orthology - Evolution
OrthoDB3547
GeneTree (enSembl)ENSG00000147255
Phylogenetic Trees/Animal Genes : TreeFamIGSF1
HOVERGENQ8N6C5
HOGENOMQ8N6C5
Homologs : HomoloGeneIGSF1
Homology/Alignments : Family Browser (UCSC)IGSF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIGSF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IGSF1
dbVarIGSF1
ClinVarIGSF1
1000_GenomesIGSF1 
Exome Variant ServerIGSF1
ExAC (Exome Aggregation Consortium)IGSF1 (select the gene name)
Genetic variants : HAPMAP3547
Genomic Variants (DGV)IGSF1 [DGVbeta]
DECIPHERIGSF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIGSF1 
Mutations
ICGC Data PortalIGSF1 
TCGA Data PortalIGSF1 
Broad Tumor PortalIGSF1
OASIS PortalIGSF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIGSF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIGSF1
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch IGSF1
DgiDB (Drug Gene Interaction Database)IGSF1
DoCM (Curated mutations)IGSF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IGSF1 (select a term)
intoGenIGSF1
Cancer3DIGSF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300137    300888   
Orphanet21913   
MedgenIGSF1
Genetic Testing Registry IGSF1
NextProtQ8N6C5 [Medical]
TSGene3547
GENETestsIGSF1
Target ValidationIGSF1
Huge Navigator IGSF1 [HugePedia]
snp3D : Map Gene to Disease3547
BioCentury BCIQIGSF1
ClinGenIGSF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3547
Chemical/Pharm GKB GenePA29761
Clinical trialIGSF1
Miscellaneous
canSAR (ICR)IGSF1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIGSF1
EVEXIGSF1
GoPubMedIGSF1
iHOPIGSF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:03:51 CEST 2017

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