Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats)

Identity

Alias_symbol (synonym)FLJ10128
KIAA1561
Other aliasNUCLING
HGNC (Hugo) UACA
LocusID (NCBI) 55075
Atlas_Id 52832
Location 15q23  [Link to chromosome band 15q23]
Location_base_pair Starts at 70654554 and ends at 70763593 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)
CLDN18 (3q22.3) / UACA (15q23)PTPRK (6q22.33) / UACA (15q23)SLTM (15q22.1) / UACA (15q23)
TMC6 (17q25.3) / UACA (15q23)UACA (15q23) / ARID1A (1p36.11)UACA (15q23) / IARS (9q22.31)
UACA (15q23) / LTK (15q15.1)SLTM 15q22.1 / UACA 15q23TMC6 17q25.3 / UACA 15q23
UACA 15q23 / LTK 15q15.1

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(15;15)(q15;q23) UACA/LTK
t(15;15)(q22;q23) SLTM/UACA
t(15;17)(q23;q25) TMC6/UACA

External links

Nomenclature
HGNC (Hugo)UACA   15947
Cards
Entrez_Gene (NCBI)UACA  55075  uveal autoantigen with coiled-coil domains and ankyrin repeats
AliasesNUCLING
GeneCards (Weizmann)UACA
Ensembl hg19 (Hinxton)ENSG00000137831 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137831 [Gene_View]  ENSG00000137831 [Sequence]  chr15:70654554-70763593 [Contig_View]  UACA [Vega]
ICGC DataPortalENSG00000137831
TCGA cBioPortalUACA
AceView (NCBI)UACA
Genatlas (Paris)UACA
WikiGenes55075
SOURCE (Princeton)UACA
Genetics Home Reference (NIH)UACA
Genomic and cartography
GoldenPath hg38 (UCSC)UACA  -     chr15:70654554-70763593 -  15q23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UACA  -     15q23   [Description]    (hg19-Feb_2009)
GoldenPathUACA - 15q23 [CytoView hg19]  UACA - 15q23 [CytoView hg38]
ImmunoBaseENSG00000137831
Mapping of homologs : NCBIUACA [Mapview hg19]  UACA [Mapview hg38]
OMIM612516   
Gene and transcription
Genbank (Entrez)AB046781 AF322916 AK000990 AK055435 AK057207
RefSeq transcript (Entrez)NM_001008224 NM_018003
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UACA
Cluster EST : UnigeneHs.108049 [ NCBI ]
CGAP (NCI)Hs.108049
Alternative Splicing GalleryENSG00000137831
Gene ExpressionUACA [ NCBI-GEO ]   UACA [ EBI - ARRAY_EXPRESS ]   UACA [ SEEK ]   UACA [ MEM ]
Gene Expression Viewer (FireBrowse)UACA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55075
GTEX Portal (Tissue expression)UACA
Human Protein AtlasENSG00000137831-UACA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZF9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZF9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZF9
Splice isoforms : SwissVarQ9BZF9
PhosPhoSitePlusQ9BZF9
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    T_SNARE (PS50192)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    T_SNARE_dom    UACA   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Ank_3 (PF13606)   
Domain families : Pfam (NCBI)pfam12796    pfam13606   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)UACA
DMDM Disease mutations55075
Blocks (Seattle)UACA
SuperfamilyQ9BZF9
Human Protein Atlas [tissue]ENSG00000137831-UACA [tissue]
Peptide AtlasQ9BZF9
HPRD11657
IPIIPI00173359   IPI00922391   IPI00872841   IPI00513788   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZF9
IntAct (EBI)Q9BZF9
FunCoupENSG00000137831
BioGRIDUACA
STRING (EMBL)UACA
ZODIACUACA
Ontologies - Pathways
QuickGOQ9BZF9
Ontology : AmiGOmolecular_function  protein binding  extracellular region  nucleus  cytosol  cytoskeleton  biological_process  extracellular exosome  apoptotic signaling pathway  regulation of NIK/NF-kappaB signaling  
Ontology : EGO-EBImolecular_function  protein binding  extracellular region  nucleus  cytosol  cytoskeleton  biological_process  extracellular exosome  apoptotic signaling pathway  regulation of NIK/NF-kappaB signaling  
NDEx NetworkUACA
Atlas of Cancer Signalling NetworkUACA
Wikipedia pathwaysUACA
Orthology - Evolution
OrthoDB55075
GeneTree (enSembl)ENSG00000137831
Phylogenetic Trees/Animal Genes : TreeFamUACA
HOGENOMQ9BZF9
Homologs : HomoloGeneUACA
Homology/Alignments : Family Browser (UCSC)UACA
Gene fusions - Rearrangements
Fusion : MitelmanSLTM/UACA [15q22.1/15q23]  [t(15;15)(q22;q23)]  
Fusion : MitelmanTMC6/UACA [17q25.3/15q23]  [t(15;17)(q23;q25)]  
Fusion : MitelmanUACA/LTK [15q23/15q15.1]  [t(15;15)(q15;q23)]  
Fusion PortalSLTM 15q22.1 UACA 15q23 BRCA
Fusion PortalTMC6 17q25.3 UACA 15q23 PRAD
Fusion PortalUACA 15q23 LTK 15q15.1 THCA
Fusion : QuiverUACA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUACA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UACA
dbVarUACA
ClinVarUACA
1000_GenomesUACA 
Exome Variant ServerUACA
ExAC (Exome Aggregation Consortium)ENSG00000137831
GNOMAD BrowserENSG00000137831
Varsome BrowserUACA
Genetic variants : HAPMAP55075
Genomic Variants (DGV)UACA [DGVbeta]
DECIPHERUACA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUACA 
Mutations
ICGC Data PortalUACA 
TCGA Data PortalUACA 
Broad Tumor PortalUACA
OASIS PortalUACA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUACA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUACA
Mutations and Diseases : HGMDUACA
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 UACA
DgiDB (Drug Gene Interaction Database)UACA
DoCM (Curated mutations)UACA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UACA (select a term)
intoGenUACA
Cancer3DUACA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612516   
Orphanet
DisGeNETUACA
MedgenUACA
Genetic Testing Registry UACA
NextProtQ9BZF9 [Medical]
TSGene55075
GENETestsUACA
Target ValidationUACA
Huge Navigator UACA [HugePedia]
snp3D : Map Gene to Disease55075
BioCentury BCIQUACA
ClinGenUACA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55075
Chemical/Pharm GKB GenePA38062
Clinical trialUACA
Miscellaneous
canSAR (ICR)UACA (select the gene name)
DataMed IndexUACA
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUACA
EVEXUACA
GoPubMedUACA
iHOPUACA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:13:49 CET 2019
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