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USH1G (USH1 protein network component sans)

Identity

Alias_namesUsher syndrome 1G (autosomal recessive)
Alias_symbol (synonym)Sans
FLJ33924
ANKS4A
Other aliasSANS
HGNC (Hugo) USH1G
LocusID (NCBI) 124590
Atlas_Id 54018
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 74916083 and ends at 74923255 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)
HN1 (17q25.1) / USH1G (17q25.1)JPT1 USH1G

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) [ 1 ]
  del(17)(q25) MTRNR2L1/USH1G


External links

Nomenclature
HGNC (Hugo)USH1G   16356
Cards
Entrez_Gene (NCBI)USH1G  124590  USH1 protein network component sans
AliasesANKS4A; SANS
GeneCards (Weizmann)USH1G
Ensembl hg19 (Hinxton)ENSG00000182040 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182040 [Gene_View]  ENSG00000182040 [Sequence]  chr17:74916083-74923255 [Contig_View]  USH1G [Vega]
ICGC DataPortalENSG00000182040
TCGA cBioPortalUSH1G
AceView (NCBI)USH1G
Genatlas (Paris)USH1G
WikiGenes124590
SOURCE (Princeton)USH1G
Genetics Home Reference (NIH)USH1G
Genomic and cartography
GoldenPath hg38 (UCSC)USH1G  -     chr17:74916083-74923255 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)USH1G  -     17q25.1   [Description]    (hg19-Feb_2009)
GoldenPathUSH1G - 17q25.1 [CytoView hg19]  USH1G - 17q25.1 [CytoView hg38]
Genome Data Viewer NCBIUSH1G [Mapview hg19]  
OMIM606943   607696   
Gene and transcription
Genbank (Entrez)AK091243 AK289804 AK296899 BC101096 BC101097
RefSeq transcript (Entrez)NM_001282489 NM_173477
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)USH1G
Alternative Splicing GalleryENSG00000182040
Gene ExpressionUSH1G [ NCBI-GEO ]   USH1G [ EBI - ARRAY_EXPRESS ]   USH1G [ SEEK ]   USH1G [ MEM ]
Gene Expression Viewer (FireBrowse)USH1G [ Firebrowse - Broad ]
GenevisibleExpression of USH1G in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124590
GTEX Portal (Tissue expression)USH1G
Human Protein AtlasENSG00000182040-USH1G [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ495M9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ495M9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ495M9
Splice isoforms : SwissVarQ495M9
PhosPhoSitePlusQ495M9
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    SAM    SAM/pointed_sf    USH1G    USH1G_SAM   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam12796    pfam00536   
Domain families : Smart (EMBL)ANK (SM00248)  SAM (SM00454)  
Conserved Domain (NCBI)USH1G
DMDM Disease mutations124590
PDB (RSDB)2L7T    3K1R    3PVL   
PDB Europe2L7T    3K1R    3PVL   
PDB (PDBSum)2L7T    3K1R    3PVL   
PDB (IMB)2L7T    3K1R    3PVL   
Structural Biology KnowledgeBase2L7T    3K1R    3PVL   
SCOP (Structural Classification of Proteins)2L7T    3K1R    3PVL   
CATH (Classification of proteins structures)2L7T    3K1R    3PVL   
SuperfamilyQ495M9
Human Protein Atlas [tissue]ENSG00000182040-USH1G [tissue]
Peptide AtlasQ495M9
HPRD09648
IPIIPI00178665   
Protein Interaction databases
DIP (DOE-UCLA)Q495M9
IntAct (EBI)Q495M9
FunCoupENSG00000182040
BioGRIDUSH1G
STRING (EMBL)USH1G
ZODIACUSH1G
Ontologies - Pathways
QuickGOQ495M9
Ontology : AmiGOphotoreceptor inner segment  protein binding  cytosol  plasma membrane  sensory perception of sound  actin cytoskeleton  spectrin binding  photoreceptor connecting cilium  ciliary basal body  inner ear morphogenesis  identical protein binding  photoreceptor cell maintenance  sensory perception of light stimulus  equilibrioception  inner ear receptor cell stereocilium organization  
Ontology : EGO-EBIphotoreceptor inner segment  protein binding  cytosol  plasma membrane  sensory perception of sound  actin cytoskeleton  spectrin binding  photoreceptor connecting cilium  ciliary basal body  inner ear morphogenesis  identical protein binding  photoreceptor cell maintenance  sensory perception of light stimulus  equilibrioception  inner ear receptor cell stereocilium organization  
NDEx NetworkUSH1G
Atlas of Cancer Signalling NetworkUSH1G
Wikipedia pathwaysUSH1G
Orthology - Evolution
OrthoDB124590
GeneTree (enSembl)ENSG00000182040
Phylogenetic Trees/Animal Genes : TreeFamUSH1G
HOGENOMQ495M9
Homologs : HomoloGeneUSH1G
Homology/Alignments : Family Browser (UCSC)USH1G
Gene fusions - Rearrangements
Fusion : MitelmanHN1/USH1G [17q25.1/17q25.1]  
Fusion : QuiverUSH1G
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSH1G [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USH1G
dbVarUSH1G
ClinVarUSH1G
1000_GenomesUSH1G 
Exome Variant ServerUSH1G
GNOMAD BrowserENSG00000182040
Varsome BrowserUSH1G
Genetic variants : HAPMAP124590
Genomic Variants (DGV)USH1G [DGVbeta]
DECIPHERUSH1G [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUSH1G 
Mutations
ICGC Data PortalUSH1G 
TCGA Data PortalUSH1G 
Broad Tumor PortalUSH1G
OASIS PortalUSH1G [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSH1G  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUSH1G
Mutations and Diseases : HGMDUSH1G
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Retinal and hearing impairment genetic mutation database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutaselect USH1G
DgiDB (Drug Gene Interaction Database)USH1G
DoCM (Curated mutations)USH1G (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USH1G (select a term)
intoGenUSH1G
Cancer3DUSH1G (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606943    607696   
Orphanet19167   
DisGeNETUSH1G
MedgenUSH1G
Genetic Testing Registry USH1G
NextProtQ495M9 [Medical]
TSGene124590
GENETestsUSH1G
Open Targets GeneticsENSG00000182040  [validation]
snp3D : Map Gene to Disease124590
BioCentury BCIQUSH1G
ClinGenUSH1G
Clinical trials, drugs, therapy
Protein Interactions : CTD124590
Pharm GKB GenePA38126
Clinical trialUSH1G
Miscellaneous
canSAR (ICR)USH1G (select the gene name)
HarmonizomeUSH1G
DataMed IndexUSH1G
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSH1G
EVEXUSH1G
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 11 20:18:00 CEST 2020

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