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SPG20 (spastic paraplegia 20 (Troyer syndrome))

Identity

Alias_symbol (synonym)KIAA0610
TAHCCP1
HGNC (Hugo) SPG20
LocusID (NCBI) 23111
Atlas_Id 49906
Location 13q13.3  [Link to chromosome band 13q13]
Location_base_pair Starts at 36875775 and ends at 36944317 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RBFOX1 (16p13.3) / SPG20 (13q13.3)

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)SPG20   18514
Cards
Entrez_Gene (NCBI)SPG20  23111  spastic paraplegia 20 (Troyer syndrome)
AliasesSPARTIN; TAHCCP1
GeneCards (Weizmann)SPG20
Ensembl hg19 (Hinxton)ENSG00000133104 [Gene_View]  chr13:36875775-36944317 [Contig_View]  SPG20 [Vega]
Ensembl hg38 (Hinxton)ENSG00000133104 [Gene_View]  chr13:36875775-36944317 [Contig_View]  SPG20 [Vega]
ICGC DataPortalENSG00000133104
TCGA cBioPortalSPG20
AceView (NCBI)SPG20
Genatlas (Paris)SPG20
WikiGenes23111
SOURCE (Princeton)SPG20
Genetics Home Reference (NIH)SPG20
Genomic and cartography
GoldenPath hg19 (UCSC)SPG20  -     chr13:36875775-36944317 -  13q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPG20  -     13q13.3   [Description]    (hg38-Dec_2013)
EnsemblSPG20 - 13q13.3 [CytoView hg19]  SPG20 - 13q13.3 [CytoView hg38]
Mapping of homologs : NCBISPG20 [Mapview hg19]  SPG20 [Mapview hg38]
OMIM275900   607111   
Gene and transcription
Genbank (Entrez)AA137195 AB011182 AK001949 AK002207 AK057764
RefSeq transcript (Entrez)NM_001142294 NM_001142295 NM_001142296 NM_015087
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_011559 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)SPG20
Cluster EST : UnigeneHs.440414 [ NCBI ]
CGAP (NCI)Hs.440414
Alternative Splicing GalleryENSG00000133104
Gene ExpressionSPG20 [ NCBI-GEO ]   SPG20 [ EBI - ARRAY_EXPRESS ]   SPG20 [ SEEK ]   SPG20 [ MEM ]
Gene Expression Viewer (FireBrowse)SPG20 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23111
GTEX Portal (Tissue expression)SPG20
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N0X7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N0X7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N0X7
Splice isoforms : SwissVarQ8N0X7
PhosPhoSitePlusQ8N0X7
Domains : Interpro (EBI)MIT    Senescence/spartin   
Domain families : Pfam (Sanger)Senescence (PF06911)   
Domain families : Pfam (NCBI)pfam06911   
Domain families : Smart (EMBL)MIT (SM00745)  
Conserved Domain (NCBI)SPG20
DMDM Disease mutations23111
Blocks (Seattle)SPG20
PDB (SRS)2DL1    4U7I   
PDB (PDBSum)2DL1    4U7I   
PDB (IMB)2DL1    4U7I   
PDB (RSDB)2DL1    4U7I   
Structural Biology KnowledgeBase2DL1    4U7I   
SCOP (Structural Classification of Proteins)2DL1    4U7I   
CATH (Classification of proteins structures)2DL1    4U7I   
SuperfamilyQ8N0X7
Human Protein AtlasENSG00000133104
Peptide AtlasQ8N0X7
HPRD06170
IPIIPI00430622   
Protein Interaction databases
DIP (DOE-UCLA)Q8N0X7
IntAct (EBI)Q8N0X7
FunCoupENSG00000133104
BioGRIDSPG20
STRING (EMBL)SPG20
ZODIACSPG20
Ontologies - Pathways
QuickGOQ8N0X7
Ontology : AmiGOprotein binding  cytoplasm  mitochondrial outer membrane  lipid particle  plasma membrane  abscission  midbody  negative regulation of BMP signaling pathway  ubiquitin protein ligase binding  lipid particle organization  synapse  negative regulation of collateral sprouting in absence of injury  neuromuscular process  cell division  regulation of mitochondrial membrane potential  adipose tissue development  
Ontology : EGO-EBIprotein binding  cytoplasm  mitochondrial outer membrane  lipid particle  plasma membrane  abscission  midbody  negative regulation of BMP signaling pathway  ubiquitin protein ligase binding  lipid particle organization  synapse  negative regulation of collateral sprouting in absence of injury  neuromuscular process  cell division  regulation of mitochondrial membrane potential  adipose tissue development  
NDEx NetworkSPG20
Atlas of Cancer Signalling NetworkSPG20
Wikipedia pathwaysSPG20
Orthology - Evolution
OrthoDB23111
GeneTree (enSembl)ENSG00000133104
Phylogenetic Trees/Animal Genes : TreeFamSPG20
HOVERGENQ8N0X7
HOGENOMQ8N0X7
Homologs : HomoloGeneSPG20
Homology/Alignments : Family Browser (UCSC)SPG20
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPG20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPG20
dbVarSPG20
ClinVarSPG20
1000_GenomesSPG20 
Exome Variant ServerSPG20
ExAC (Exome Aggregation Consortium)SPG20 (select the gene name)
Genetic variants : HAPMAP23111
Genomic Variants (DGV)SPG20 [DGVbeta]
DECIPHER (Syndromes)13:36875775-36944317  ENSG00000133104
CONAN: Copy Number AnalysisSPG20 
Mutations
ICGC Data PortalSPG20 
TCGA Data PortalSPG20 
Broad Tumor PortalSPG20
OASIS PortalSPG20 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPG20  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPG20
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SPG20
DgiDB (Drug Gene Interaction Database)SPG20
DoCM (Curated mutations)SPG20 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPG20 (select a term)
intoGenSPG20
Cancer3DSPG20(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM275900    607111   
Orphanet14711   
MedgenSPG20
Genetic Testing Registry SPG20
NextProtQ8N0X7 [Medical]
TSGene23111
GENETestsSPG20
Huge Navigator SPG20 [HugePedia]
snp3D : Map Gene to Disease23111
BioCentury BCIQSPG20
ClinGenSPG20
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23111
Chemical/Pharm GKB GenePA134871645
Clinical trialSPG20
Miscellaneous
canSAR (ICR)SPG20 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPG20
EVEXSPG20
GoPubMedSPG20
iHOPSPG20
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:52:22 CET 2016

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