Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CIRH1A (cirrhosis, autosomal recessive 1A (cirhin))

Identity

Other aliasCIRHIN
NAIC
TEX292
UTP4
HGNC (Hugo) CIRH1A
LocusID (NCBI) 84916
Atlas_Id 61838
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 69166499 and ends at 69202937 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SNTB2 CIRH1ADDX19A CIRH1A

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)CIRH1A   1983
Cards
Entrez_Gene (NCBI)CIRH1A  84916  cirrhosis, autosomal recessive 1A (cirhin)
AliasesCIRHIN; NAIC; TEX292; UTP4
GeneCards (Weizmann)CIRH1A
Ensembl hg19 (Hinxton)ENSG00000141076 [Gene_View]  chr16:69166499-69202937 [Contig_View]  CIRH1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000141076 [Gene_View]  chr16:69166499-69202937 [Contig_View]  CIRH1A [Vega]
ICGC DataPortalENSG00000141076
TCGA cBioPortalCIRH1A
AceView (NCBI)CIRH1A
Genatlas (Paris)CIRH1A
WikiGenes84916
SOURCE (Princeton)CIRH1A
Genetics Home Reference (NIH)CIRH1A
Genomic and cartography
GoldenPath hg19 (UCSC)CIRH1A  -     chr16:69166499-69202937 +  16q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CIRH1A  -     16q22.1   [Description]    (hg38-Dec_2013)
EnsemblCIRH1A - 16q22.1 [CytoView hg19]  CIRH1A - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBICIRH1A [Mapview hg19]  CIRH1A [Mapview hg38]
OMIM604901   607456   
Gene and transcription
Genbank (Entrez)AB075868 AK027419 AK027445 AK027584 AK027634
RefSeq transcript (Entrez)NM_032830
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_008278 NT_010498 NW_003315946 NW_004929402
Consensus coding sequences : CCDS (NCBI)CIRH1A
Cluster EST : UnigeneHs.461113 [ NCBI ]
CGAP (NCI)Hs.461113
Alternative Splicing GalleryENSG00000141076
Gene ExpressionCIRH1A [ NCBI-GEO ]   CIRH1A [ EBI - ARRAY_EXPRESS ]   CIRH1A [ SEEK ]   CIRH1A [ MEM ]
Gene Expression Viewer (FireBrowse)CIRH1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84916
GTEX Portal (Tissue expression)CIRH1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969X6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969X6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969X6
Splice isoforms : SwissVarQ969X6
PhosPhoSitePlusQ969X6
Domaine pattern : Prosite (Expaxy)WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)CIRH1A
DMDM Disease mutations84916
Blocks (Seattle)CIRH1A
SuperfamilyQ969X6
Human Protein AtlasENSG00000141076
Peptide AtlasQ969X6
HPRD08468
IPIIPI00239815   IPI00399195   IPI00399197   
Protein Interaction databases
DIP (DOE-UCLA)Q969X6
IntAct (EBI)Q969X6
FunCoupENSG00000141076
BioGRIDCIRH1A
STRING (EMBL)CIRH1A
ZODIACCIRH1A
Ontologies - Pathways
QuickGOQ969X6
Ontology : AmiGOprotein binding  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  maturation of SSU-rRNA  t-UTP complex  poly(A) RNA binding  
Ontology : EGO-EBIprotein binding  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  maturation of SSU-rRNA  t-UTP complex  poly(A) RNA binding  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkCIRH1A
Atlas of Cancer Signalling NetworkCIRH1A
Wikipedia pathwaysCIRH1A
Orthology - Evolution
OrthoDB84916
GeneTree (enSembl)ENSG00000141076
Phylogenetic Trees/Animal Genes : TreeFamCIRH1A
HOVERGENQ969X6
HOGENOMQ969X6
Homologs : HomoloGeneCIRH1A
Homology/Alignments : Family Browser (UCSC)CIRH1A
Gene fusions - Rearrangements
Fusion: TCGASNTB2 CIRH1A
Fusion: TCGADDX19A CIRH1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCIRH1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CIRH1A
dbVarCIRH1A
ClinVarCIRH1A
1000_GenomesCIRH1A 
Exome Variant ServerCIRH1A
ExAC (Exome Aggregation Consortium)CIRH1A (select the gene name)
Genetic variants : HAPMAP84916
Genomic Variants (DGV)CIRH1A [DGVbeta]
DECIPHER (Syndromes)16:69166499-69202937  ENSG00000141076
CONAN: Copy Number AnalysisCIRH1A 
Mutations
ICGC Data PortalCIRH1A 
TCGA Data PortalCIRH1A 
Broad Tumor PortalCIRH1A
OASIS PortalCIRH1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCIRH1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCIRH1A
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 CIRH1A
DgiDB (Drug Gene Interaction Database)CIRH1A
DoCM (Curated mutations)CIRH1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CIRH1A (select a term)
intoGenCIRH1A
Cancer3DCIRH1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604901    607456   
Orphanet
MedgenCIRH1A
Genetic Testing Registry CIRH1A
NextProtQ969X6 [Medical]
TSGene84916
GENETestsCIRH1A
Huge Navigator CIRH1A [HugePedia]
snp3D : Map Gene to Disease84916
BioCentury BCIQCIRH1A
ClinGenCIRH1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84916
Chemical/Pharm GKB GenePA26520
Clinical trialCIRH1A
Miscellaneous
canSAR (ICR)CIRH1A (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCIRH1A
EVEXCIRH1A
GoPubMedCIRH1A
iHOPCIRH1A
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 11:59:32 CET 2017

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