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SPATA5 (spermatogenesis associated 5)

Identity

Alias_symbol (synonym)SPAF
AFG2
Other aliasEHLMRS
HGNC (Hugo) SPATA5
LocusID (NCBI) 166378
Atlas_Id 74142
Location 4q28.1  [Link to chromosome band 4q28]
Location_base_pair Starts at 122923070 and ends at 123319449 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)
PPIG (2q31.1) / SPATA5 (4q28.1)SPATA5 (4q28.1) / CENPE (4q24)SPATA5 (4q28.1) / MMRN1 (4q22.1)
SPATA5 (4q28.1) / SPATA5 (4q28.1)SPATA5 CENPESPATA5 MMRN1

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(4;4)(q22;q28) SPATA5/MMRN1
t(4;4)(q24;q28) SPATA5/CENPE

External links

Nomenclature
HGNC (Hugo)SPATA5   18119
Cards
Entrez_Gene (NCBI)SPATA5  166378  spermatogenesis associated 5
AliasesAFG2; EHLMRS; SPAF
GeneCards (Weizmann)SPATA5
Ensembl hg19 (Hinxton)ENSG00000145375 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145375 [Gene_View]  ENSG00000145375 [Sequence]  chr4:122923070-123319449 [Contig_View]  SPATA5 [Vega]
ICGC DataPortalENSG00000145375
TCGA cBioPortalSPATA5
AceView (NCBI)SPATA5
Genatlas (Paris)SPATA5
WikiGenes166378
SOURCE (Princeton)SPATA5
Genetics Home Reference (NIH)SPATA5
Genomic and cartography
GoldenPath hg38 (UCSC)SPATA5  -     chr4:122923070-123319449 +  4q28.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPATA5  -     4q28.1   [Description]    (hg19-Feb_2009)
GoldenPathSPATA5 - 4q28.1 [CytoView hg19]  SPATA5 - 4q28.1 [CytoView hg38]
ImmunoBaseENSG00000145375
Mapping of homologs : NCBISPATA5 [Mapview hg19]  SPATA5 [Mapview hg38]
OMIM613940   616577   
Gene and transcription
Genbank (Entrez)AF361489 AF479656 AK091384 AL832175 BC048217
RefSeq transcript (Entrez)NM_001317799 NM_001345856 NM_145207
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPATA5
Alternative Splicing GalleryENSG00000145375
Gene ExpressionSPATA5 [ NCBI-GEO ]   SPATA5 [ EBI - ARRAY_EXPRESS ]   SPATA5 [ SEEK ]   SPATA5 [ MEM ]
Gene Expression Viewer (FireBrowse)SPATA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)166378
GTEX Portal (Tissue expression)SPATA5
Human Protein AtlasENSG00000145375-SPATA5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NB90   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NB90  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NB90
Splice isoforms : SwissVarQ8NB90
PhosPhoSitePlusQ8NB90
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    AAA_lid_3    Asp_de-COase-like_dom_sf    ATPase_AAA_core    ATPase_AAA_CS    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA (PF00004)    AAA_lid_3 (PF17862)   
Domain families : Pfam (NCBI)pfam00004    pfam17862   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)SPATA5
DMDM Disease mutations166378
Blocks (Seattle)SPATA5
SuperfamilyQ8NB90
Human Protein Atlas [tissue]ENSG00000145375-SPATA5 [tissue]
Peptide AtlasQ8NB90
HPRD11595
IPIIPI00329583   IPI00890727   IPI00890715   
Protein Interaction databases
DIP (DOE-UCLA)Q8NB90
IntAct (EBI)Q8NB90
FunCoupENSG00000145375
BioGRIDSPATA5
STRING (EMBL)SPATA5
ZODIACSPATA5
Ontologies - Pathways
QuickGOQ8NB90
Ontology : AmiGOATP binding  cytoplasm  cytoplasm  mitochondrion  spermatogenesis  brain development  ATPase activity  cell differentiation  
Ontology : EGO-EBIATP binding  cytoplasm  cytoplasm  mitochondrion  spermatogenesis  brain development  ATPase activity  cell differentiation  
NDEx NetworkSPATA5
Atlas of Cancer Signalling NetworkSPATA5
Wikipedia pathwaysSPATA5
Orthology - Evolution
OrthoDB166378
GeneTree (enSembl)ENSG00000145375
Phylogenetic Trees/Animal Genes : TreeFamSPATA5
HOGENOMQ8NB90
Homologs : HomoloGeneSPATA5
Homology/Alignments : Family Browser (UCSC)SPATA5
Gene fusions - Rearrangements
Fusion PortalSPATA5 CENPE
Fusion PortalSPATA5 MMRN1
Fusion : QuiverSPATA5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPATA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPATA5
dbVarSPATA5
ClinVarSPATA5
1000_GenomesSPATA5 
Exome Variant ServerSPATA5
ExAC (Exome Aggregation Consortium)ENSG00000145375
GNOMAD BrowserENSG00000145375
Varsome BrowserSPATA5
Genetic variants : HAPMAP166378
Genomic Variants (DGV)SPATA5 [DGVbeta]
DECIPHERSPATA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPATA5 
Mutations
ICGC Data PortalSPATA5 
TCGA Data PortalSPATA5 
Broad Tumor PortalSPATA5
OASIS PortalSPATA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPATA5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPATA5
Mutations and Diseases : HGMDSPATA5
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 SPATA5
DgiDB (Drug Gene Interaction Database)SPATA5
DoCM (Curated mutations)SPATA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPATA5 (select a term)
intoGenSPATA5
Cancer3DSPATA5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613940    616577   
Orphanet23721   
DisGeNETSPATA5
MedgenSPATA5
Genetic Testing Registry SPATA5
NextProtQ8NB90 [Medical]
TSGene166378
GENETestsSPATA5
Target ValidationSPATA5
Huge Navigator SPATA5 [HugePedia]
snp3D : Map Gene to Disease166378
BioCentury BCIQSPATA5
ClinGenSPATA5
Clinical trials, drugs, therapy
Protein Interactions : CTD166378
Pharm GKB GenePA38294
Clinical trialSPATA5
Miscellaneous
canSAR (ICR)SPATA5 (select the gene name)
HarmonizomeSPATA5
DataMed IndexSPATA5
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPATA5
EVEXSPATA5
GoPubMedSPATA5
iHOPSPATA5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:03:20 CEST 2020
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