Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UTP4 (UTP4, small subunit processome component)

Identity

Alias_namesCIRH1A
cirrhosis, autosomal recessive 1A (cirhin)
Alias_symbol (synonym)NAIC
FLJ14728
KIAA1988
TEX292
CIRHIN
Other alias
HGNC (Hugo) UTP4
LocusID (NCBI) 84916
Atlas_Id 78031
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 69132596 and ends at 69169034 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		ACE2 (Xp22.2) / UTP4 (16q22.1)CYB5B (16q22.1) / UTP4 (16q22.1)DDX19A (16q22.1) / UTP4 (16q22.1)
MYO19 (17q12) / UTP4 (16q22.1)SNTB2 (16q22.1) / UTP4 (16q22.1)

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)UTP4   1983
Cards
Entrez_Gene (NCBI)UTP4  84916  UTP4, small subunit processome component
AliasesCIRH1A; CIRHIN; NAIC; TEX292
GeneCards (Weizmann)UTP4
Ensembl hg19 (Hinxton)ENSG00000141076 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141076 [Gene_View]  chr16:69132596-69169034 [Contig_View]  UTP4 [Vega]
ICGC DataPortalENSG00000141076
TCGA cBioPortalUTP4
AceView (NCBI)UTP4
Genatlas (Paris)UTP4
WikiGenes84916
SOURCE (Princeton)UTP4
Genetics Home Reference (NIH)UTP4
Genomic and cartography
GoldenPath hg38 (UCSC)UTP4  -     chr16:69132596-69169034 +  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UTP4  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblUTP4 - 16q22.1 [CytoView hg19]  UTP4 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBIUTP4 [Mapview hg19]  UTP4 [Mapview hg38]
OMIM604901   607456   
Gene and transcription
Genbank (Entrez)AB075868 AK027419 AK027445 AK027584 AK027634
RefSeq transcript (Entrez)NM_001318391 NM_032830
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UTP4
Cluster EST : UnigeneHs.461113 [ NCBI ]
CGAP (NCI)Hs.461113
Alternative Splicing GalleryENSG00000141076
Gene ExpressionUTP4 [ NCBI-GEO ]   UTP4 [ EBI - ARRAY_EXPRESS ]   UTP4 [ SEEK ]   UTP4 [ MEM ]
Gene Expression Viewer (FireBrowse)UTP4 [ 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)UTP4
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)UTP4
DMDM Disease mutations84916
Blocks (Seattle)UTP4
SuperfamilyQ969X6
Human Protein AtlasENSG00000141076
Peptide AtlasQ969X6
HPRD08468
IPIIPI00239815   IPI00399195   IPI00399197   
Protein Interaction databases
DIP (DOE-UCLA)Q969X6
IntAct (EBI)Q969X6
FunCoupENSG00000141076
BioGRIDUTP4
STRING (EMBL)UTP4
ZODIACUTP4
Ontologies - Pathways
QuickGOQ969X6
Ontology : AmiGOfibrillar center  RNA binding  protein binding  nucleoplasm  chromosome  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  rRNA processing  maturation of SSU-rRNA  t-UTP complex  
Ontology : EGO-EBIfibrillar center  RNA binding  protein binding  nucleoplasm  chromosome  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  rRNA processing  maturation of SSU-rRNA  t-UTP complex  
NDEx NetworkUTP4
Atlas of Cancer Signalling NetworkUTP4
Wikipedia pathwaysUTP4
Orthology - Evolution
OrthoDB84916
GeneTree (enSembl)ENSG00000141076
Phylogenetic Trees/Animal Genes : TreeFamUTP4
HOVERGENQ969X6
HOGENOMQ969X6
Homologs : HomoloGeneUTP4
Homology/Alignments : Family Browser (UCSC)UTP4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUTP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UTP4
dbVarUTP4
ClinVarUTP4
1000_GenomesUTP4 
Exome Variant ServerUTP4
ExAC (Exome Aggregation Consortium)UTP4 (select the gene name)
Genetic variants : HAPMAP84916
Genomic Variants (DGV)UTP4 [DGVbeta]
DECIPHERUTP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUTP4 
Mutations
ICGC Data PortalUTP4 
TCGA Data PortalUTP4 
Broad Tumor PortalUTP4
OASIS PortalUTP4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDUTP4
BioMutasearch UTP4
DgiDB (Drug Gene Interaction Database)UTP4
DoCM (Curated mutations)UTP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UTP4 (select a term)
intoGenUTP4
Cancer3DUTP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604901    607456   
Orphanet17777   
MedgenUTP4
Genetic Testing Registry UTP4
NextProtQ969X6 [Medical]
TSGene84916
GENETestsUTP4
Target ValidationUTP4
Huge Navigator UTP4 [HugePedia]
snp3D : Map Gene to Disease84916
BioCentury BCIQUTP4
ClinGenUTP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84916
Chemical/Pharm GKB GenePA26520
Clinical trialUTP4
Miscellaneous
canSAR (ICR)UTP4 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUTP4
EVEXUTP4
GoPubMedUTP4
iHOPUTP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:48:30 CEST 2017
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