Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SPATA7 (spermatogenesis associated 7)

Identity

Alias_namesLCA3
Leber congenital amaurosis 3
Alias_symbol (synonym)HSD3
Other aliasHEL-S-296
HSD-3.1
HGNC (Hugo) SPATA7
LocusID (NCBI) 55812
Atlas_Id 42371
Location 14q31.3  [Link to chromosome band 14q31]
Location_base_pair Starts at 88385644 and ends at 88438461 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)
SPATA7 (14q31.3) / GABRA3 (Xq28)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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(X;14)(q28;q31) SPATA7/GABRA3

External links

Nomenclature
HGNC (Hugo)SPATA7   20423
Cards
Entrez_Gene (NCBI)SPATA7  55812  spermatogenesis associated 7
AliasesHEL-S-296; HSD-3.1; HSD3; LCA3
GeneCards (Weizmann)SPATA7
Ensembl hg19 (Hinxton)ENSG00000042317 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000042317 [Gene_View]  ENSG00000042317 [Sequence]  chr14:88385644-88438461 [Contig_View]  SPATA7 [Vega]
ICGC DataPortalENSG00000042317
TCGA cBioPortalSPATA7
AceView (NCBI)SPATA7
Genatlas (Paris)SPATA7
WikiGenes55812
SOURCE (Princeton)SPATA7
Genetics Home Reference (NIH)SPATA7
Genomic and cartography
GoldenPath hg38 (UCSC)SPATA7  -     chr14:88385644-88438461 +  14q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPATA7  -     14q31.3   [Description]    (hg19-Feb_2009)
GoldenPathSPATA7 - 14q31.3 [CytoView hg19]  SPATA7 - 14q31.3 [CytoView hg38]
ImmunoBaseENSG00000042317
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)
Consensus coding sequences : CCDS (NCBI)SPATA7
Cluster EST : UnigeneHs.525518 [ NCBI ]
CGAP (NCI)Hs.525518
Alternative Splicing GalleryENSG00000042317
Gene ExpressionSPATA7 [ NCBI-GEO ]   SPATA7 [ EBI - ARRAY_EXPRESS ]   SPATA7 [ SEEK ]   SPATA7 [ MEM ]
Gene Expression Viewer (FireBrowse)SPATA7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55812
GTEX Portal (Tissue expression)SPATA7
Human Protein AtlasENSG00000042317-SPATA7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0W8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0W8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0W8
Splice isoforms : SwissVarQ9P0W8
PhosPhoSitePlusQ9P0W8
Domains : Interpro (EBI)SPATA7   
Domain families : Pfam (Sanger)HSD3 (PF15244)   
Domain families : Pfam (NCBI)pfam15244   
Conserved Domain (NCBI)SPATA7
DMDM Disease mutations55812
Blocks (Seattle)SPATA7
SuperfamilyQ9P0W8
Human Protein Atlas [tissue]ENSG00000042317-SPATA7 [tissue]
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
STRING (EMBL)SPATA7
ZODIACSPATA7
Ontologies - Pathways
QuickGOQ9P0W8
Ontology : AmiGOphotoreceptor outer segment  protein binding  nucleoplasm  mitochondrion  cytosol  axoneme  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-EBIphotoreceptor outer segment  protein binding  nucleoplasm  mitochondrion  cytosol  axoneme  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  
NDEx NetworkSPATA7
Atlas of Cancer Signalling NetworkSPATA7
Wikipedia pathwaysSPATA7
Orthology - Evolution
OrthoDB55812
GeneTree (enSembl)ENSG00000042317
Phylogenetic Trees/Animal Genes : TreeFamSPATA7
HOGENOMQ9P0W8
Homologs : HomoloGeneSPATA7
Homology/Alignments : Family Browser (UCSC)SPATA7
Gene fusions - Rearrangements
Fusion : MitelmanSPATA7/GABRA3 [14q31.3/Xq28]  
Fusion PortalSPATA7 14q31.3 GABRA3 Xq28 BRCA
Fusion : QuiverSPATA7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPATA7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPATA7
dbVarSPATA7
ClinVarSPATA7
1000_GenomesSPATA7 
Exome Variant ServerSPATA7
ExAC (Exome Aggregation Consortium)ENSG00000042317
GNOMAD BrowserENSG00000042317
Varsome BrowserSPATA7
Genetic variants : HAPMAP55812
Genomic Variants (DGV)SPATA7 [DGVbeta]
DECIPHERSPATA7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPATA7 
Mutations
ICGC Data PortalSPATA7 
TCGA Data PortalSPATA7 
Broad Tumor PortalSPATA7
OASIS PortalSPATA7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPATA7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPATA7
Mutations and Diseases : HGMDSPATA7
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)
intoGenSPATA7
Cancer3DSPATA7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604232    609868   
Orphanet659    3243    22365   
DisGeNETSPATA7
MedgenSPATA7
Genetic Testing Registry SPATA7
NextProtQ9P0W8 [Medical]
TSGene55812
GENETestsSPATA7
Target ValidationSPATA7
Huge Navigator SPATA7 [HugePedia]
snp3D : Map Gene to Disease55812
BioCentury BCIQSPATA7
ClinGenSPATA7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55812
Chemical/Pharm GKB GenePA134907300
Clinical trialSPATA7
Miscellaneous
canSAR (ICR)SPATA7 (select the gene name)
DataMed IndexSPATA7
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPATA7
EVEXSPATA7
GoPubMedSPATA7
iHOPSPATA7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:09:14 CET 2019
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.