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SPG11 (spastic paraplegia 11 (autosomal recessive))

Identity

Alias_namesKIAA1840
KIAA1840
Alias_symbol (synonym)FLJ21439
Other aliasALS5
CMT2X
HGNC (Hugo) SPG11
LocusID (NCBI) 80208
Atlas_Id 54663
Location 15q21.1  [Link to chromosome band 15q21]
Location_base_pair Starts at 44854894 and ends at 44955876 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SPG11 (15q21.1) / AKAP13 (15q25.3)SPG11 (15q21.1) / CAMK2G (10q22.2)SPG11 (15q21.1) / CHRM3 (1q43)
SPG11 (15q21.1) / EIF3J (15q21.1)SPG11 (15q21.1) / ISLR (15q24.1)SPG11 (15q21.1) / ITGA9 (3p22.2)
SPG11 (15q21.1) / JMJD7 (15q15.1)SPG11 (15q21.1) / SORD (15q21.1)SPG11 15q21.1 / CAMK2G 10q22.2
SPG11 15q21.1 / JMJD7 15q15.1

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 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SPG11   11226
Cards
Entrez_Gene (NCBI)SPG11  80208  spastic paraplegia 11 (autosomal recessive)
AliasesALS5; CMT2X; KIAA1840
GeneCards (Weizmann)SPG11
Ensembl hg19 (Hinxton)ENSG00000104133 [Gene_View]  chr15:44854894-44955876 [Contig_View]  SPG11 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104133 [Gene_View]  chr15:44854894-44955876 [Contig_View]  SPG11 [Vega]
ICGC DataPortalENSG00000104133
TCGA cBioPortalSPG11
AceView (NCBI)SPG11
Genatlas (Paris)SPG11
WikiGenes80208
SOURCE (Princeton)SPG11
Genetics Home Reference (NIH)SPG11
Genomic and cartography
GoldenPath hg19 (UCSC)SPG11  -     chr15:44854894-44955876 -  15q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPG11  -     15q21.1   [Description]    (hg38-Dec_2013)
EnsemblSPG11 - 15q21.1 [CytoView hg19]  SPG11 - 15q21.1 [CytoView hg38]
Mapping of homologs : NCBISPG11 [Mapview hg19]  SPG11 [Mapview hg38]
OMIM604360   610844   
Gene and transcription
Genbank (Entrez)AB058743 AB470308 AB470309 AB470310 AK025092
RefSeq transcript (Entrez)NM_001160227 NM_025137
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_008885 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)SPG11
Cluster EST : UnigeneHs.683876 [ NCBI ]
CGAP (NCI)Hs.683876
Alternative Splicing GalleryENSG00000104133
Gene ExpressionSPG11 [ NCBI-GEO ]   SPG11 [ EBI - ARRAY_EXPRESS ]   SPG11 [ SEEK ]   SPG11 [ MEM ]
Gene Expression Viewer (FireBrowse)SPG11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80208
GTEX Portal (Tissue expression)SPG11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JI7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JI7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JI7
Splice isoforms : SwissVarQ96JI7
PhosPhoSitePlusQ96JI7
Domains : Interpro (EBI)Spatacsin    Spatacsin_C_dom   
Domain families : Pfam (Sanger)Spatacsin_C (PF14649)   
Domain families : Pfam (NCBI)pfam14649   
Conserved Domain (NCBI)SPG11
DMDM Disease mutations80208
Blocks (Seattle)SPG11
SuperfamilyQ96JI7
Human Protein AtlasENSG00000104133
Peptide AtlasQ96JI7
HPRD07963
IPIIPI00101923   IPI01009685   IPI00384851   IPI00798078   
Protein Interaction databases
DIP (DOE-UCLA)Q96JI7
IntAct (EBI)Q96JI7
FunCoupENSG00000104133
BioGRIDSPG11
STRING (EMBL)SPG11
ZODIACSPG11
Ontologies - Pathways
QuickGOQ96JI7
Ontology : AmiGOprotein binding  nucleolus  cytoplasm  lysosomal membrane  cytosol  plasma membrane  axo-dendritic transport  integral component of membrane  axon  dendrite  cytoplasmic vesicle  synapse  axon extension  extracellular exosome  
Ontology : EGO-EBIprotein binding  nucleolus  cytoplasm  lysosomal membrane  cytosol  plasma membrane  axo-dendritic transport  integral component of membrane  axon  dendrite  cytoplasmic vesicle  synapse  axon extension  extracellular exosome  
NDEx NetworkSPG11
Atlas of Cancer Signalling NetworkSPG11
Wikipedia pathwaysSPG11
Orthology - Evolution
OrthoDB80208
GeneTree (enSembl)ENSG00000104133
Phylogenetic Trees/Animal Genes : TreeFamSPG11
HOVERGENQ96JI7
HOGENOMQ96JI7
Homologs : HomoloGeneSPG11
Homology/Alignments : Family Browser (UCSC)SPG11
Gene fusions - Rearrangements
Fusion : MitelmanSPG11/CAMK2G [15q21.1/10q22.2]  
Fusion : MitelmanSPG11/JMJD7 [15q21.1/15q15.1]  [t(15;15)(q15;q21)]  
Fusion : MitelmanSPG11/SORD [15q21.1/15q21.1]  [t(15;15)(q21;q21)]  
Fusion: TCGASPG11 15q21.1 CAMK2G 10q22.2 BRCA
Fusion: TCGASPG11 15q21.1 JMJD7 15q15.1 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPG11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPG11
dbVarSPG11
ClinVarSPG11
1000_GenomesSPG11 
Exome Variant ServerSPG11
ExAC (Exome Aggregation Consortium)SPG11 (select the gene name)
Genetic variants : HAPMAP80208
Genomic Variants (DGV)SPG11 [DGVbeta]
DECIPHER (Syndromes)15:44854894-44955876  ENSG00000104133
CONAN: Copy Number AnalysisSPG11 
Mutations
ICGC Data PortalSPG11 
TCGA Data PortalSPG11 
Broad Tumor PortalSPG11
OASIS PortalSPG11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPG11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPG11
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 SPG11
DgiDB (Drug Gene Interaction Database)SPG11
DoCM (Curated mutations)SPG11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPG11 (select a term)
intoGenSPG11
Cancer3DSPG11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604360    610844   
Orphanet2563    21137   
MedgenSPG11
Genetic Testing Registry SPG11
NextProtQ96JI7 [Medical]
TSGene80208
GENETestsSPG11
Huge Navigator SPG11 [HugePedia]
snp3D : Map Gene to Disease80208
BioCentury BCIQSPG11
ClinGenSPG11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80208
Chemical/Pharm GKB GenePA36058
Clinical trialSPG11
Miscellaneous
canSAR (ICR)SPG11 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPG11
EVEXSPG11
GoPubMedSPG11
iHOPSPG11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:28:53 CET 2017

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