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UNC13A (unc-13 homolog A)

Identity

Alias_namesunc-13 homolog A (C. elegans)
Alias_symbol (synonym)KIAA1032
Munc13-1
Other alias
HGNC (Hugo) UNC13A
LocusID (NCBI) 23025
Atlas_Id 54754
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17601328 and ends at 17688199 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)
GLUL (1q25.3) / UNC13A (19p13.11)HDLBP (2q37.3) / UNC13A (19p13.11)SBK1 (16p11.2) / UNC13A (19p13.11)
UNC13A (19p13.11) / UNC13A (19p13.11)UNC13A (19p13.11) / WBP2 (17q25.1)UNC13A (19p13.11) / ZNF492 (19p12)
GLUL 1q25.3 / UNC13A 19p13.11

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)UNC13A   23150
Cards
Entrez_Gene (NCBI)UNC13A  23025  unc-13 homolog A
AliasesMunc13-1
GeneCards (Weizmann)UNC13A
Ensembl hg19 (Hinxton)ENSG00000130477 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130477 [Gene_View]  chr19:17601328-17688199 [Contig_View]  UNC13A [Vega]
ICGC DataPortalENSG00000130477
TCGA cBioPortalUNC13A
AceView (NCBI)UNC13A
Genatlas (Paris)UNC13A
WikiGenes23025
SOURCE (Princeton)UNC13A
Genetics Home Reference (NIH)UNC13A
Genomic and cartography
GoldenPath hg38 (UCSC)UNC13A  -     chr19:17601328-17688199 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UNC13A  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblUNC13A - 19p13.11 [CytoView hg19]  UNC13A - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIUNC13A [Mapview hg19]  UNC13A [Mapview hg38]
OMIM609894   
Gene and transcription
Genbank (Entrez)AB028955 AK055065 BC011004 BC172223 DA236619
RefSeq transcript (Entrez)NM_001080421
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UNC13A
Cluster EST : UnigeneHs.164502 [ NCBI ]
CGAP (NCI)Hs.164502
Alternative Splicing GalleryENSG00000130477
Gene ExpressionUNC13A [ NCBI-GEO ]   UNC13A [ EBI - ARRAY_EXPRESS ]   UNC13A [ SEEK ]   UNC13A [ MEM ]
Gene Expression Viewer (FireBrowse)UNC13A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23025
GTEX Portal (Tissue expression)UNC13A
Human Protein AtlasENSG00000130477-UNC13A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPW8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPW8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPW8
Splice isoforms : SwissVarQ9UPW8
PhosPhoSitePlusQ9UPW8
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    MHD1 (PS51258)    MHD2 (PS51259)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)C2_dom    CAPS_dom    Munc13_1    Munc13_dom-2    Munc13_subgr_dom-2    PE/DAG-bd    Unc-13    Unc13A   
Domain families : Pfam (Sanger)C1_1 (PF00130)    C2 (PF00168)    DUF1041 (PF06292)    Membr_traf_MHD (PF10540)   
Domain families : Pfam (NCBI)pfam00130    pfam00168    pfam06292    pfam10540   
Domain families : Smart (EMBL)C1 (SM00109)  C2 (SM00239)  DUF1041 (SM01145)  
Conserved Domain (NCBI)UNC13A
DMDM Disease mutations23025
Blocks (Seattle)UNC13A
SuperfamilyQ9UPW8
Human Protein Atlas [tissue]ENSG00000130477-UNC13A [tissue]
Peptide AtlasQ9UPW8
IPIIPI01018254   IPI01022998   IPI01022675   IPI00980647   IPI00164441   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPW8
IntAct (EBI)Q9UPW8
FunCoupENSG00000130477
BioGRIDUNC13A
STRING (EMBL)UNC13A
ZODIACUNC13A
Ontologies - Pathways
QuickGOQ9UPW8
Ontology : AmiGOpositive regulation of neurotransmitter secretion  calmodulin binding  cytoplasm  neurotransmitter secretion  neuromuscular junction development  synaptic vesicle exocytosis  synaptic vesicle docking  synaptic vesicle priming  synaptic vesicle maturation  syntaxin-1 binding  diacylglycerol binding  cell junction  neuromuscular junction  positive regulation of synaptic plasticity  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  neuron projection  terminal bouton  calyx of Held  metal ion binding  protein N-terminus binding  regulation of short-term neuronal synaptic plasticity  presynaptic active zone  beta-amyloid metabolic process  regulation of synaptic transmission, glutamatergic  innervation  presynaptic dense core vesicle exocytosis  positive regulation of glutamate receptor signaling pathway  regulation of amyloid precursor protein catabolic process  positive regulation of dendrite extension  
Ontology : EGO-EBIpositive regulation of neurotransmitter secretion  calmodulin binding  cytoplasm  neurotransmitter secretion  neuromuscular junction development  synaptic vesicle exocytosis  synaptic vesicle docking  synaptic vesicle priming  synaptic vesicle maturation  syntaxin-1 binding  diacylglycerol binding  cell junction  neuromuscular junction  positive regulation of synaptic plasticity  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  neuron projection  terminal bouton  calyx of Held  metal ion binding  protein N-terminus binding  regulation of short-term neuronal synaptic plasticity  presynaptic active zone  beta-amyloid metabolic process  regulation of synaptic transmission, glutamatergic  innervation  presynaptic dense core vesicle exocytosis  positive regulation of glutamate receptor signaling pathway  regulation of amyloid precursor protein catabolic process  positive regulation of dendrite extension  
Pathways : KEGGSynaptic vesicle cycle   
NDEx NetworkUNC13A
Atlas of Cancer Signalling NetworkUNC13A
Wikipedia pathwaysUNC13A
Orthology - Evolution
OrthoDB23025
GeneTree (enSembl)ENSG00000130477
Phylogenetic Trees/Animal Genes : TreeFamUNC13A
HOVERGENQ9UPW8
HOGENOMQ9UPW8
Homologs : HomoloGeneUNC13A
Homology/Alignments : Family Browser (UCSC)UNC13A
Gene fusions - Rearrangements
Fusion : MitelmanGLUL/UNC13A [1q25.3/19p13.11]  [t(1;19)(q25;p13)]  
Fusion : MitelmanUNC13A/ZNF492 [19p13.11/19p12]  [t(19;19)(p12;p13)]  
Fusion: TCGA_MDACCGLUL 1q25.3 UNC13A 19p13.11 LGG
Tumor Fusion PortalUNC13A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUNC13A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UNC13A
dbVarUNC13A
ClinVarUNC13A
1000_GenomesUNC13A 
Exome Variant ServerUNC13A
ExAC (Exome Aggregation Consortium)ENSG00000130477
GNOMAD BrowserENSG00000130477
Genetic variants : HAPMAP23025
Genomic Variants (DGV)UNC13A [DGVbeta]
DECIPHERUNC13A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUNC13A 
Mutations
ICGC Data PortalUNC13A 
TCGA Data PortalUNC13A 
Broad Tumor PortalUNC13A
OASIS PortalUNC13A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUNC13A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUNC13A
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 UNC13A
DgiDB (Drug Gene Interaction Database)UNC13A
DoCM (Curated mutations)UNC13A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UNC13A (select a term)
intoGenUNC13A
Cancer3DUNC13A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609894   
Orphanet106   
DisGeNETUNC13A
MedgenUNC13A
Genetic Testing Registry UNC13A
NextProtQ9UPW8 [Medical]
TSGene23025
GENETestsUNC13A
Target ValidationUNC13A
Huge Navigator UNC13A [HugePedia]
snp3D : Map Gene to Disease23025
BioCentury BCIQUNC13A
ClinGenUNC13A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23025
Chemical/Pharm GKB GenePA134879020
Clinical trialUNC13A
Miscellaneous
canSAR (ICR)UNC13A (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUNC13A
EVEXUNC13A
GoPubMedUNC13A
iHOPUNC13A
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 : Tue Nov 21 14:40:51 CET 2017

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