Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SPAG1 (sperm associated antigen 1)

Identity

Alias_symbol (synonym)SP75
FLJ32920
HSD-3.8
TPIS
CT140
CILD28
Other aliasHEL-S-268
HGNC (Hugo) SPAG1
LocusID (NCBI) 6674
Atlas_Id 47639
Location 8q22.2  [Link to chromosome band 8q22]
Location_base_pair Starts at 100158035 and ends at 100241904 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)
TRPS1 (8q23.3) / SPAG1 (8q22.2)TRPS1 8q23.3 / SPAG1 8q22.2

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(8;8)(q22;q23) TRPS1/SPAG1

External links

Nomenclature
HGNC (Hugo)SPAG1   11212
Cards
Entrez_Gene (NCBI)SPAG1  6674  sperm associated antigen 1
AliasesCILD28; CT140; HEL-S-268; HSD-3.8; 
SP75; TPIS
GeneCards (Weizmann)SPAG1
Ensembl hg19 (Hinxton)ENSG00000104450 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104450 [Gene_View]  ENSG00000104450 [Sequence]  chr8:100158035-100241904 [Contig_View]  SPAG1 [Vega]
ICGC DataPortalENSG00000104450
TCGA cBioPortalSPAG1
AceView (NCBI)SPAG1
Genatlas (Paris)SPAG1
WikiGenes6674
SOURCE (Princeton)SPAG1
Genetics Home Reference (NIH)SPAG1
Genomic and cartography
GoldenPath hg38 (UCSC)SPAG1  -     chr8:100158035-100241904 +  8q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPAG1  -     8q22.2   [Description]    (hg19-Feb_2009)
GoldenPathSPAG1 - 8q22.2 [CytoView hg19]  SPAG1 - 8q22.2 [CytoView hg38]
ImmunoBaseENSG00000104450
Mapping of homologs : NCBISPAG1 [Mapview hg19]  SPAG1 [Mapview hg38]
OMIM603395   615505   
Gene and transcription
Genbank (Entrez)AF311312 AI624411 AK057482 BC055091 BM557203
RefSeq transcript (Entrez)NM_003114 NM_172218
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPAG1
Cluster EST : UnigeneHs.591866 [ NCBI ]
CGAP (NCI)Hs.591866
Alternative Splicing GalleryENSG00000104450
Gene ExpressionSPAG1 [ NCBI-GEO ]   SPAG1 [ EBI - ARRAY_EXPRESS ]   SPAG1 [ SEEK ]   SPAG1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPAG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6674
GTEX Portal (Tissue expression)SPAG1
Human Protein AtlasENSG00000104450-SPAG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07617   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07617  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07617
Splice isoforms : SwissVarQ07617
PhosPhoSitePlusQ07617
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)RPAP3-like_C    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_1    TPR_repeat   
Domain families : Pfam (Sanger)RPAP3_C (PF13877)    TPR_1 (PF00515)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam13877    pfam00515    pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)SPAG1
DMDM Disease mutations6674
Blocks (Seattle)SPAG1
SuperfamilyQ07617
Human Protein Atlas [tissue]ENSG00000104450-SPAG1 [tissue]
Peptide AtlasQ07617
HPRD04548
IPIIPI00292326   IPI00903172   
Protein Interaction databases
DIP (DOE-UCLA)Q07617
IntAct (EBI)Q07617
FunCoupENSG00000104450
BioGRIDSPAG1
STRING (EMBL)SPAG1
ZODIACSPAG1
Ontologies - Pathways
QuickGOQ07617
Ontology : AmiGOGTP binding  cytoplasm  cytosol  single fertilization  hydrolase activity  axonemal dynein complex assembly  
Ontology : EGO-EBIGTP binding  cytoplasm  cytosol  single fertilization  hydrolase activity  axonemal dynein complex assembly  
NDEx NetworkSPAG1
Atlas of Cancer Signalling NetworkSPAG1
Wikipedia pathwaysSPAG1
Orthology - Evolution
OrthoDB6674
GeneTree (enSembl)ENSG00000104450
Phylogenetic Trees/Animal Genes : TreeFamSPAG1
HOGENOMQ07617
Homologs : HomoloGeneSPAG1
Homology/Alignments : Family Browser (UCSC)SPAG1
Gene fusions - Rearrangements
Fusion : MitelmanTRPS1/SPAG1 [8q23.3/8q22.2]  [t(8;8)(q22;q23)]  
Fusion PortalTRPS1 8q23.3 SPAG1 8q22.2 BRCA
Fusion : QuiverSPAG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPAG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPAG1
dbVarSPAG1
ClinVarSPAG1
1000_GenomesSPAG1 
Exome Variant ServerSPAG1
ExAC (Exome Aggregation Consortium)ENSG00000104450
GNOMAD BrowserENSG00000104450
Varsome BrowserSPAG1
Genetic variants : HAPMAP6674
Genomic Variants (DGV)SPAG1 [DGVbeta]
DECIPHERSPAG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPAG1 
Mutations
ICGC Data PortalSPAG1 
TCGA Data PortalSPAG1 
Broad Tumor PortalSPAG1
OASIS PortalSPAG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPAG1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPAG1
Mutations and Diseases : HGMDSPAG1
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 SPAG1
DgiDB (Drug Gene Interaction Database)SPAG1
DoCM (Curated mutations)SPAG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPAG1 (select a term)
intoGenSPAG1
Cancer3DSPAG1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603395    615505   
Orphanet665   
DisGeNETSPAG1
MedgenSPAG1
Genetic Testing Registry SPAG1
NextProtQ07617 [Medical]
TSGene6674
GENETestsSPAG1
Target ValidationSPAG1
Huge Navigator SPAG1 [HugePedia]
snp3D : Map Gene to Disease6674
BioCentury BCIQSPAG1
ClinGenSPAG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6674
Chemical/Pharm GKB GenePA36049
Clinical trialSPAG1
Miscellaneous
canSAR (ICR)SPAG1 (select the gene name)
DataMed IndexSPAG1
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPAG1
EVEXSPAG1
GoPubMedSPAG1
iHOPSPAG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:09:08 CET 2019
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