Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GRXCR1 (glutaredoxin and cysteine rich domain containing 1)

Identity

Alias_namesDFNB25
deafness, autosomal recessive 25
glutaredoxin, cysteine rich 1
Alias_symbol (synonym)PPP1R88
Other alias
HGNC (Hugo) GRXCR1
LocusID (NCBI) 389207
Atlas_Id 64063
Location 4p13  [Link to chromosome band 4p13]
Location_base_pair Starts at 42893266 and ends at 43030658 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)
SLC7A6 (16q22.1) / GRXCR1 (4p13)

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)GRXCR1   31673
Cards
Entrez_Gene (NCBI)GRXCR1  389207  glutaredoxin and cysteine rich domain containing 1
AliasesDFNB25; PPP1R88
GeneCards (Weizmann)GRXCR1
Ensembl hg19 (Hinxton)ENSG00000215203 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215203 [Gene_View]  chr4:42893266-43030658 [Contig_View]  GRXCR1 [Vega]
ICGC DataPortalENSG00000215203
TCGA cBioPortalGRXCR1
AceView (NCBI)GRXCR1
Genatlas (Paris)GRXCR1
WikiGenes389207
SOURCE (Princeton)GRXCR1
Genetics Home Reference (NIH)GRXCR1
Genomic and cartography
GoldenPath hg38 (UCSC)GRXCR1  -     chr4:42893266-43030658 +  4p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GRXCR1  -     4p13   [Description]    (hg19-Feb_2009)
EnsemblGRXCR1 - 4p13 [CytoView hg19]  GRXCR1 - 4p13 [CytoView hg38]
Mapping of homologs : NCBIGRXCR1 [Mapview hg19]  GRXCR1 [Mapview hg38]
OMIM613283   613285   
Gene and transcription
Genbank (Entrez)AA588868 BC148672 BC153209 BG213384 DT932651
RefSeq transcript (Entrez)NM_001080476
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GRXCR1
Cluster EST : UnigeneHs.162559 [ NCBI ]
CGAP (NCI)Hs.162559
Alternative Splicing GalleryENSG00000215203
Gene ExpressionGRXCR1 [ NCBI-GEO ]   GRXCR1 [ EBI - ARRAY_EXPRESS ]   GRXCR1 [ SEEK ]   GRXCR1 [ MEM ]
Gene Expression Viewer (FireBrowse)GRXCR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)389207
GTEX Portal (Tissue expression)GRXCR1
Human Protein AtlasENSG00000215203-GRXCR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA8MXD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA8MXD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA8MXD5
Splice isoforms : SwissVarA8MXD5
PhosPhoSitePlusA8MXD5
Domaine pattern : Prosite (Expaxy)GLUTAREDOXIN_2 (PS51354)   
Domains : Interpro (EBI)Glutaredoxin    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)Glutaredoxin (PF00462)   
Domain families : Pfam (NCBI)pfam00462   
Conserved Domain (NCBI)GRXCR1
DMDM Disease mutations389207
Blocks (Seattle)GRXCR1
SuperfamilyA8MXD5
Human Protein Atlas [tissue]ENSG00000215203-GRXCR1 [tissue]
Peptide AtlasA8MXD5
IPIIPI00374244   
Protein Interaction databases
DIP (DOE-UCLA)A8MXD5
IntAct (EBI)A8MXD5
FunCoupENSG00000215203
BioGRIDGRXCR1
STRING (EMBL)GRXCR1
ZODIACGRXCR1
Ontologies - Pathways
QuickGOA8MXD5
Ontology : AmiGOmolecular_function  microvillus  sensory perception of sound  electron carrier activity  negative regulation of phosphatase activity  protein disulfide oxidoreductase activity  stereocilium  cell redox homeostasis  oxidation-reduction process  kinocilium  vestibular receptor cell development  inner ear receptor cell development  inner ear receptor stereocilium organization  
Ontology : EGO-EBImolecular_function  microvillus  sensory perception of sound  electron carrier activity  negative regulation of phosphatase activity  protein disulfide oxidoreductase activity  stereocilium  cell redox homeostasis  oxidation-reduction process  kinocilium  vestibular receptor cell development  inner ear receptor cell development  inner ear receptor stereocilium organization  
NDEx NetworkGRXCR1
Atlas of Cancer Signalling NetworkGRXCR1
Wikipedia pathwaysGRXCR1
Orthology - Evolution
OrthoDB389207
GeneTree (enSembl)ENSG00000215203
Phylogenetic Trees/Animal Genes : TreeFamGRXCR1
HOVERGENA8MXD5
HOGENOMA8MXD5
Homologs : HomoloGeneGRXCR1
Homology/Alignments : Family Browser (UCSC)GRXCR1
Gene fusions - Rearrangements
Tumor Fusion PortalGRXCR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGRXCR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GRXCR1
dbVarGRXCR1
ClinVarGRXCR1
1000_GenomesGRXCR1 
Exome Variant ServerGRXCR1
ExAC (Exome Aggregation Consortium)ENSG00000215203
GNOMAD BrowserENSG00000215203
Genetic variants : HAPMAP389207
Genomic Variants (DGV)GRXCR1 [DGVbeta]
DECIPHERGRXCR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGRXCR1 
Mutations
ICGC Data PortalGRXCR1 
TCGA Data PortalGRXCR1 
Broad Tumor PortalGRXCR1
OASIS PortalGRXCR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGRXCR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGRXCR1
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)Mendelian genes
BioMutasearch GRXCR1
DgiDB (Drug Gene Interaction Database)GRXCR1
DoCM (Curated mutations)GRXCR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GRXCR1 (select a term)
intoGenGRXCR1
Cancer3DGRXCR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613283    613285   
Orphanet12047   
DisGeNETGRXCR1
MedgenGRXCR1
Genetic Testing Registry GRXCR1
NextProtA8MXD5 [Medical]
TSGene389207
GENETestsGRXCR1
Target ValidationGRXCR1
Huge Navigator GRXCR1 [HugePedia]
snp3D : Map Gene to Disease389207
BioCentury BCIQGRXCR1
ClinGenGRXCR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD389207
Chemical/Pharm GKB GenePA162390253
Clinical trialGRXCR1
Miscellaneous
canSAR (ICR)GRXCR1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGRXCR1
EVEXGRXCR1
GoPubMedGRXCR1
iHOPGRXCR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:09:57 CET 2017

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