Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPATA46 (spermatogenesis associated 46)

Identity

Alias (NCBI)C1orf111
HSD20
TEKT2BP2
HGNC (Hugo) SPATA46
HGNC Alias symbTEKT2BP2
HGNC Previous nameC1orf111
HGNC Previous namechromosome 1 open reading frame 111
LocusID (NCBI) 284680
Atlas_Id 56727
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 162373203 and ends at 162376854 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)

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)SPATA46   27648
Cards
Entrez_Gene (NCBI)SPATA46    spermatogenesis associated 46
AliasesC1orf111; HSD20; TEKT2BP2
GeneCards (Weizmann)SPATA46
Ensembl hg19 (Hinxton)ENSG00000171722 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171722 [Gene_View]  ENSG00000171722 [Sequence]  chr1:162373203-162376854 [Contig_View]  SPATA46 [Vega]
ICGC DataPortalENSG00000171722
TCGA cBioPortalSPATA46
AceView (NCBI)SPATA46
Genatlas (Paris)SPATA46
SOURCE (Princeton)SPATA46
Genetics Home Reference (NIH)SPATA46
Genomic and cartography
GoldenPath hg38 (UCSC)SPATA46  -     chr1:162373203-162376854 -  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPATA46  -     1q23.3   [Description]    (hg19-Feb_2009)
GoldenPathSPATA46 - 1q23.3 [CytoView hg19]  SPATA46 - 1q23.3 [CytoView hg38]
ImmunoBaseENSG00000171722
Genome Data Viewer NCBISPATA46 [Mapview hg19]  
OMIM617257   
Gene and transcription
Genbank (Entrez)AY248900 BC032957
RefSeq transcript (Entrez)NM_182581
Consensus coding sequences : CCDS (NCBI)SPATA46
Gene ExpressionSPATA46 [ NCBI-GEO ]   SPATA46 [ EBI - ARRAY_EXPRESS ]   SPATA46 [ SEEK ]   SPATA46 [ MEM ]
Gene Expression Viewer (FireBrowse)SPATA46 [ Firebrowse - Broad ]
GenevisibleExpression of SPATA46 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284680
GTEX Portal (Tissue expression)SPATA46
Human Protein AtlasENSG00000171722-SPATA46 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T0L3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T0L3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T0L3
PhosPhoSitePlusQ5T0L3
Domains : Interpro (EBI)Spt46-like   
Domain families : Pfam (Sanger)Spt46 (PF17734)   
Domain families : Pfam (NCBI)pfam17734   
Conserved Domain (NCBI)SPATA46
SuperfamilyQ5T0L3
AlphaFold pdb e-kbQ5T0L3   
Human Protein Atlas [tissue]ENSG00000171722-SPATA46 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q5T0L3
IntAct (EBI)Q5T0L3
BioGRIDSPATA46
STRING (EMBL)SPATA46
ZODIACSPATA46
Ontologies - Pathways
QuickGOQ5T0L3
Ontology : AmiGOprotein binding  spermatogenesis  fusion of sperm to egg plasma membrane involved in single fertilization  fertilization  cell differentiation  nuclear membrane  nuclear membrane  
Ontology : EGO-EBIprotein binding  spermatogenesis  fusion of sperm to egg plasma membrane involved in single fertilization  fertilization  cell differentiation  nuclear membrane  nuclear membrane  
NDEx NetworkSPATA46
Atlas of Cancer Signalling NetworkSPATA46
Wikipedia pathwaysSPATA46
Orthology - Evolution
OrthoDB284680
GeneTree (enSembl)ENSG00000171722
Phylogenetic Trees/Animal Genes : TreeFamSPATA46
Homologs : HomoloGeneSPATA46
Homology/Alignments : Family Browser (UCSC)SPATA46
Gene fusions - Rearrangements
Fusion : QuiverSPATA46
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPATA46 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPATA46
dbVarSPATA46
ClinVarSPATA46
MonarchSPATA46
1000_GenomesSPATA46 
Exome Variant ServerSPATA46
GNOMAD BrowserENSG00000171722
Varsome BrowserSPATA46
ACMGSPATA46 variants
VarityQ5T0L3
Genomic Variants (DGV)SPATA46 [DGVbeta]
DECIPHERSPATA46 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPATA46 
Mutations
ICGC Data PortalSPATA46 
TCGA Data PortalSPATA46 
Broad Tumor PortalSPATA46
OASIS PortalSPATA46 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPATA46  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPATA46
Mutations and Diseases : HGMDSPATA46
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPATA46
DgiDB (Drug Gene Interaction Database)SPATA46
DoCM (Curated mutations)SPATA46
CIViC (Clinical Interpretations of Variants in Cancer)SPATA46
Cancer3DSPATA46
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617257   
Orphanet
DisGeNETSPATA46
MedgenSPATA46
Genetic Testing Registry SPATA46
NextProtQ5T0L3 [Medical]
GENETestsSPATA46
Target ValidationSPATA46
Huge Navigator SPATA46 [HugePedia]
ClinGenSPATA46
Clinical trials, drugs, therapy
MyCancerGenomeSPATA46
Protein Interactions : CTDSPATA46
Pharm GKB GenePA142672495
PharosQ5T0L3
Clinical trialSPATA46
Miscellaneous
canSAR (ICR)SPATA46
HarmonizomeSPATA46
DataMed IndexSPATA46
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPATA46
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:32:49 CEST 2021

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