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SPATA7 (spermatogenesis associated 7)

Identity

Other namesHEL-S-296
HSD-3.1
HSD3
LCA3
HGNC (Hugo) SPATA7
LocusID (NCBI) 55812
Atlas_Id 42371
Location 14q31.3
Location_base_pair Starts at 88851988 and ends at 88904804 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
SPATA7 14q31.3 / GABRA3 Xq28

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)SPATA7   20423
Cards
Entrez_Gene (NCBI)SPATA7  55812  spermatogenesis associated 7
GeneCards (Weizmann)SPATA7
Ensembl hg19 (Hinxton)ENSG00000042317 [Gene_View]  chr14:88851988-88904804 [Contig_View]  SPATA7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000042317 [Gene_View]  chr14:88851988-88904804 [Contig_View]  SPATA7 [Vega]
ICGC DataPortalENSG00000042317
TCGA cBioPortalSPATA7
AceView (NCBI)SPATA7
Genatlas (Paris)SPATA7
WikiGenes55812
SOURCE (Princeton)SPATA7
Genomic and cartography
GoldenPath hg19 (UCSC)SPATA7  -     chr14:88851988-88904804 +  14q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPATA7  -     14q31.3   [Description]    (hg38-Dec_2013)
EnsemblSPATA7 - 14q31.3 [CytoView hg19]  SPATA7 - 14q31.3 [CytoView hg38]
Mapping of homologs : NCBISPATA7 [Mapview hg19]  SPATA7 [Mapview hg38]
OMIM604232   609868   
Gene and transcription
Genbank (Entrez)AF144487 AF144488 AK055864 AK225746 AK290631
RefSeq transcript (Entrez)NM_001040428 NM_018418
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_021183 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)SPATA7
Cluster EST : UnigeneHs.525518 [ NCBI ]
CGAP (NCI)Hs.525518
Alternative Splicing : Fast-db (Paris)GSHG0009039
Alternative Splicing GalleryENSG00000042317
Gene ExpressionSPATA7 [ NCBI-GEO ]     SPATA7 [ SEEK ]   SPATA7 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)55812
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0W8 (Uniprot)
NextProtQ9P0W8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0W8
Splice isoforms : SwissVarQ9P0W8 (Swissvar)
PhosPhoSitePlusQ9P0W8
Domains : Interpro (EBI)SPATA7   
Domain families : Pfam (Sanger)HSD3 (PF15244)   
Domain families : Pfam (NCBI)pfam15244   
DMDM Disease mutations55812
Blocks (Seattle)SPATA7
Human Protein AtlasENSG00000042317
Peptide AtlasQ9P0W8
HPRD15431
IPIIPI00414240   IPI00376956   IPI00376957   IPI00876977   IPI01025511   IPI01025961   IPI01025401   IPI01026176   IPI01026276   IPI01026488   IPI01024831   IPI01025184   IPI01024826   IPI01025523   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0W8
IntAct (EBI)Q9P0W8
FunCoupENSG00000042317
BioGRIDSPATA7
IntegromeDBSPATA7
STRING (EMBL)SPATA7
ZODIACSPATA7
Ontologies - Pathways
QuickGOQ9P0W8
Ontology : AmiGOprotein binding  axoneme  spermatogenesis  visual perception  microtubule cytoskeleton  photoreceptor connecting cilium  ciliary basal body  photoreceptor cell maintenance  response to stimulus  protein localization to photoreceptor outer segment  protein localization to photoreceptor connecting cilium  
Ontology : EGO-EBIprotein binding  axoneme  spermatogenesis  visual perception  microtubule cytoskeleton  photoreceptor connecting cilium  ciliary basal body  photoreceptor cell maintenance  response to stimulus  protein localization to photoreceptor outer segment  protein localization to photoreceptor connecting cilium  
Protein Interaction DatabaseSPATA7
Atlas of Cancer Signalling NetworkSPATA7
Wikipedia pathwaysSPATA7
Orthology - Evolution
OrthoDB55812
GeneTree (enSembl)ENSG00000042317
Phylogenetic Trees/Animal Genes : TreeFamSPATA7
Homologs : HomoloGeneSPATA7
Homology/Alignments : Family Browser (UCSC)SPATA7
Gene fusions - Rearrangements
Fusion: TCGASPATA7 14q31.3 GABRA3 Xq28 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSPATA7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPATA7
dbVarSPATA7
ClinVarSPATA7
1000_GenomesSPATA7 
Exome Variant ServerSPATA7
Exome Aggregation Consortium (ExAC)ENSG00000042317
SNP (GeneSNP Utah)SPATA7
SNP : HGBaseSPATA7
Genetic variants : HAPMAPSPATA7
Genomic Variants (DGV)SPATA7 [DGVbeta]
Mutations
ICGC Data PortalSPATA7 
TCGA Data PortalSPATA7 
Tumor PortalSPATA7
TCGA Copy Number PortalSPATA7
Somatic Mutations in Cancer : COSMICSPATA7 
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SPATA7
DgiDB (Drug Gene Interaction Database)SPATA7
DoCM (Curated mutations)SPATA7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPATA7 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:88851988-88904804
CONAN: Copy Number AnalysisSPATA7 
Mutations and Diseases : HGMDSPATA7
OMIM604232    609868   
MedgenSPATA7
NextProtQ9P0W8 [Medical]
TSGene55812
GENETestsSPATA7
Huge Navigator SPATA7 [HugePedia]  SPATA7 [HugeCancerGEM]
snp3D : Map Gene to Disease55812
BioCentury BCIQSPATA7
General knowledge
Chemical/Protein Interactions : CTD55812
Chemical/Pharm GKB GenePA134907300
Clinical trialSPATA7
Other databases
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPATA7
GoPubMedSPATA7
iHOPSPATA7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 19:33:02 CET 2016

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