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SPATA12 (spermatogenesis associated 12)

Identity

Other aliasSRG5
HGNC (Hugo) SPATA12
LocusID (NCBI) 353324
Atlas_Id 56465
Location 3p14.3  [Link to chromosome band 3p14]
Location_base_pair Starts at 57060441 and ends at 57075432 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)
APPL1 (3p14.3) / SPATA12 (3p14.3)

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) [ 2 ]
  t(3;3)(p14;p14) APPL1/SPATA12
t(3;3)(p14;p21) SETD2/SPATA12

External links

Nomenclature
HGNC (Hugo)SPATA12   23221
Cards
Entrez_Gene (NCBI)SPATA12  353324  spermatogenesis associated 12
AliasesSRG5
GeneCards (Weizmann)SPATA12
Ensembl hg19 (Hinxton)ENSG00000186451 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186451 [Gene_View]  chr3:57060441-57075432 [Contig_View]  SPATA12 [Vega]
ICGC DataPortalENSG00000186451
TCGA cBioPortalSPATA12
AceView (NCBI)SPATA12
Genatlas (Paris)SPATA12
WikiGenes353324
SOURCE (Princeton)SPATA12
Genetics Home Reference (NIH)SPATA12
Genomic and cartography
GoldenPath hg38 (UCSC)SPATA12  -     chr3:57060441-57075432 +  3p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPATA12  -     3p14.3   [Description]    (hg19-Feb_2009)
EnsemblSPATA12 - 3p14.3 [CytoView hg19]  SPATA12 - 3p14.3 [CytoView hg38]
Mapping of homologs : NCBISPATA12 [Mapview hg19]  SPATA12 [Mapview hg38]
OMIM609869   
Gene and transcription
Genbank (Entrez)AY221117 BC033337 BC126274 BC136498 HM005497
RefSeq transcript (Entrez)NM_181727
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPATA12
Cluster EST : UnigeneHs.129794 [ NCBI ]
CGAP (NCI)Hs.129794
Alternative Splicing GalleryENSG00000186451
Gene ExpressionSPATA12 [ NCBI-GEO ]   SPATA12 [ EBI - ARRAY_EXPRESS ]   SPATA12 [ SEEK ]   SPATA12 [ MEM ]
Gene Expression Viewer (FireBrowse)SPATA12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)353324
GTEX Portal (Tissue expression)SPATA12
Human Protein AtlasENSG00000186451-SPATA12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6I5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6I5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6I5
Splice isoforms : SwissVarQ7Z6I5
PhosPhoSitePlusQ7Z6I5
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SPATA12
DMDM Disease mutations353324
Blocks (Seattle)SPATA12
SuperfamilyQ7Z6I5
Human Protein Atlas [tissue]ENSG00000186451-SPATA12 [tissue]
Peptide AtlasQ7Z6I5
HPRD15426
IPIIPI00376320   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6I5
IntAct (EBI)Q7Z6I5
FunCoupENSG00000186451
BioGRIDSPATA12
STRING (EMBL)SPATA12
ZODIACSPATA12
Ontologies - Pathways
QuickGOQ7Z6I5
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkSPATA12
Atlas of Cancer Signalling NetworkSPATA12
Wikipedia pathwaysSPATA12
Orthology - Evolution
OrthoDB353324
GeneTree (enSembl)ENSG00000186451
Phylogenetic Trees/Animal Genes : TreeFamSPATA12
HOVERGENQ7Z6I5
HOGENOMQ7Z6I5
Homologs : HomoloGeneSPATA12
Homology/Alignments : Family Browser (UCSC)SPATA12
Gene fusions - Rearrangements
Fusion : QuiverSPATA12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPATA12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPATA12
dbVarSPATA12
ClinVarSPATA12
1000_GenomesSPATA12 
Exome Variant ServerSPATA12
ExAC (Exome Aggregation Consortium)ENSG00000186451
GNOMAD BrowserENSG00000186451
Genetic variants : HAPMAP353324
Genomic Variants (DGV)SPATA12 [DGVbeta]
DECIPHERSPATA12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPATA12 
Mutations
ICGC Data PortalSPATA12 
TCGA Data PortalSPATA12 
Broad Tumor PortalSPATA12
OASIS PortalSPATA12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPATA12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPATA12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPATA12
DgiDB (Drug Gene Interaction Database)SPATA12
DoCM (Curated mutations)SPATA12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPATA12 (select a term)
intoGenSPATA12
Cancer3DSPATA12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609869   
Orphanet
DisGeNETSPATA12
MedgenSPATA12
Genetic Testing Registry SPATA12
NextProtQ7Z6I5 [Medical]
TSGene353324
GENETestsSPATA12
Target ValidationSPATA12
Huge Navigator SPATA12 [HugePedia]
snp3D : Map Gene to Disease353324
BioCentury BCIQSPATA12
ClinGenSPATA12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD353324
Chemical/Pharm GKB GenePA134888733
Clinical trialSPATA12
Miscellaneous
canSAR (ICR)SPATA12 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPATA12
EVEXSPATA12
GoPubMedSPATA12
iHOPSPATA12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 28 13:39:08 CET 2018
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