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 57031
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 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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]  ENSG00000141076 [Sequence]  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)
GoldenPathUTP4 - 16q22.1 [CytoView hg19]  UTP4 - 16q22.1 [CytoView hg38]
ImmunoBaseENSG00000141076
Mapping of homologs : NCBIUTP4 [Mapview hg19]  UTP4 [Mapview hg38]
OMIM607456   
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84916
GTEX Portal (Tissue expression)UTP4
Human Protein AtlasENSG00000141076-UTP4 [pathology]   [cell]   [tissue]
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_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
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 Atlas [tissue]ENSG00000141076-UTP4 [tissue]
Peptide AtlasQ969X6
IPIIPI00239815   IPI00399195   IPI00399197   
Protein Interaction databases
DIP (DOE-UCLA)Q969X6
IntAct (EBI)Q969X6
FunCoupENSG00000141076
BioGRIDUTP4
STRING (EMBL)UTP4
ZODIACUTP4
Ontologies - Pathways
QuickGOQ969X6
Ontology : AmiGOmaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  fibrillar center  RNA binding  protein binding  nucleoplasm  chromosome  nucleolus  regulation of transcription, DNA-templated  rRNA processing  maturation of SSU-rRNA  90S preribosome  small-subunit processome  t-UTP complex  t-UTP complex  
Ontology : EGO-EBImaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  fibrillar center  RNA binding  protein binding  nucleoplasm  chromosome  nucleolus  regulation of transcription, DNA-templated  rRNA processing  maturation of SSU-rRNA  90S preribosome  small-subunit processome  t-UTP complex  t-UTP complex  
NDEx NetworkUTP4
Atlas of Cancer Signalling NetworkUTP4
Wikipedia pathwaysUTP4
Orthology - Evolution
OrthoDB84916
GeneTree (enSembl)ENSG00000141076
Phylogenetic Trees/Animal Genes : TreeFamUTP4
HOGENOMQ969X6
Homologs : HomoloGeneUTP4
Homology/Alignments : Family Browser (UCSC)UTP4
Gene fusions - Rearrangements
Fusion : QuiverUTP4
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)ENSG00000141076
GNOMAD BrowserENSG00000141076
Varsome BrowserUTP4
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]
Somatic Mutations in Cancer : COSMICUTP4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUTP4
Mutations and Diseases : HGMDUTP4
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 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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607456   
Orphanet
DisGeNETUTP4
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)
DataMed IndexUTP4
Probes
Litterature
PubMed46 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 : Mon Jan 27 15:12:58 CET 2020
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