Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SPTAN1 (spectrin alpha, non-erythrocytic 1)

Identity

Other aliasEIEE5
NEAS
SPTA2
HGNC (Hugo) SPTAN1
LocusID (NCBI) 6709
Atlas_Id 50896
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 128552558 and ends at 128633665 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADK (10q22.2) / SPTAN1 (9q34.11)CIZ1 (9q34.11) / SPTAN1 (9q34.11)DOLPP1 (9q34.11) / SPTAN1 (9q34.11)
GATSL3 (22q12.2) / SPTAN1 (9q34.11)PCAT4 (4q21.21) / SPTAN1 (9q34.11)SPTAN1 (9q34.11) / AUH (9q22.31)
SPTAN1 (9q34.11) / CADPS2 (7q31.32)SPTAN1 (9q34.11) / CIDEC (3p25.3)SPTAN1 (9q34.11) / CRAT (9q34.11)
SPTAN1 (9q34.11) / GLE1 (9q34.11)SPTAN1 (9q34.11) / GPS1 (17q25.3)SPTAN1 (9q34.11) / MAPKAP1 (9q33.3)
SPTAN1 (9q34.11) / MEST (7q32.2)SPTAN1 (9q34.11) / NARFL (16p13.3)SPTAN1 (9q34.11) / NTRK3 (15q25.3)
SPTAN1 (9q34.11) / SPTAN1 (9q34.11)TRAPPC9 (8q24.3) / SPTAN1 (9q34.11)TTYH3 (7p22.3) / SPTAN1 (9q34.11)
UBA52 (19p13.11) / SPTAN1 (9q34.11)ADK 10q22.2 / SPTAN1 9q34.11DOLPP1 9q34.11 / SPTAN1 9q34.11
SPTAN1 9q34.11 / AUH 9q22.31SPTAN1 9q34.11 / CADPS2 7q31.32SPTAN1 9q34.11 / GLE1 9q34.11
SPTAN1 9q34.11 / MAPKAP1 9q33.3

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)SPTAN1   11273
Cards
Entrez_Gene (NCBI)SPTAN1  6709  spectrin alpha, non-erythrocytic 1
AliasesEIEE5; NEAS; SPTA2
GeneCards (Weizmann)SPTAN1
Ensembl hg19 (Hinxton)ENSG00000197694 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197694 [Gene_View]  chr9:128552558-128633665 [Contig_View]  SPTAN1 [Vega]
ICGC DataPortalENSG00000197694
TCGA cBioPortalSPTAN1
AceView (NCBI)SPTAN1
Genatlas (Paris)SPTAN1
WikiGenes6709
SOURCE (Princeton)SPTAN1
Genetics Home Reference (NIH)SPTAN1
Genomic and cartography
GoldenPath hg38 (UCSC)SPTAN1  -     chr9:128552558-128633665 +  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPTAN1  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblSPTAN1 - 9q34.11 [CytoView hg19]  SPTAN1 - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBISPTAN1 [Mapview hg19]  SPTAN1 [Mapview hg38]
OMIM182810   613477   
Gene and transcription
Genbank (Entrez)AB191262 AB209860 AK026484 AK126576 AK294753
RefSeq transcript (Entrez)NM_001130438 NM_001195532 NM_003127
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPTAN1
Cluster EST : UnigeneHs.372331 [ NCBI ]
CGAP (NCI)Hs.372331
Alternative Splicing GalleryENSG00000197694
Gene ExpressionSPTAN1 [ NCBI-GEO ]   SPTAN1 [ EBI - ARRAY_EXPRESS ]   SPTAN1 [ SEEK ]   SPTAN1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPTAN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6709
GTEX Portal (Tissue expression)SPTAN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13813
Splice isoforms : SwissVarQ13813
PhosPhoSitePlusQ13813
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    SH3 (PS50002)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF-hand_Ca_insen    EF_Hand_1_Ca_BS    EF_hand_dom    SH3_domain    Spectrin/alpha-actinin    Spectrin_alpha_SH3    Spectrin_repeat   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)    EFhand_Ca_insen (PF08726)    SH3_1 (PF00018)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam13499    pfam08726    pfam00018    pfam00435   
Domain families : Smart (EMBL)EFh (SM00054)  SH3 (SM00326)  SPEC (SM00150)  
Conserved Domain (NCBI)SPTAN1
DMDM Disease mutations6709
Blocks (Seattle)SPTAN1
PDB (SRS)2FOT    3F31    3FB2    5FW9    5FWB    5FWC   
PDB (PDBSum)2FOT    3F31    3FB2    5FW9    5FWB    5FWC   
PDB (IMB)2FOT    3F31    3FB2    5FW9    5FWB    5FWC   
PDB (RSDB)2FOT    3F31    3FB2    5FW9    5FWB    5FWC   
Structural Biology KnowledgeBase2FOT    3F31    3FB2    5FW9    5FWB    5FWC   
SCOP (Structural Classification of Proteins)2FOT    3F31    3FB2    5FW9    5FWB    5FWC   
CATH (Classification of proteins structures)2FOT    3F31    3FB2    5FW9    5FWB    5FWC   
SuperfamilyQ13813
Human Protein AtlasENSG00000197694
Peptide AtlasQ13813
HPRD01684
IPIIPI00844215   IPI00871535   IPI00843765   IPI00879810   IPI00745092   
Protein Interaction databases
DIP (DOE-UCLA)Q13813
IntAct (EBI)Q13813
FunCoupENSG00000197694
BioGRIDSPTAN1
STRING (EMBL)SPTAN1
ZODIACSPTAN1
Ontologies - Pathways
QuickGOQ13813
Ontology : AmiGOMAPK cascade  actin binding  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  calcium ion binding  protein binding  calmodulin binding  extracellular region  cytosol  ER to Golgi vesicle-mediated transport  cytoskeleton organization  axon guidance  spectrin  microtubule cytoskeleton  membrane  specific granule lumen  intracellular membrane-bounded organelle  neutrophil degranulation  positive regulation of GTPase activity  cadherin binding  actin filament capping  extracellular exosome  extracellular vesicle  tertiary granule lumen  
Ontology : EGO-EBIMAPK cascade  actin binding  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  calcium ion binding  protein binding  calmodulin binding  extracellular region  cytosol  ER to Golgi vesicle-mediated transport  cytoskeleton organization  axon guidance  spectrin  microtubule cytoskeleton  membrane  specific granule lumen  intracellular membrane-bounded organelle  neutrophil degranulation  positive regulation of GTPase activity  cadherin binding  actin filament capping  extracellular exosome  extracellular vesicle  tertiary granule lumen  
Pathways : BIOCARTA [Genes]   
Pathways : KEGGTight junction   
NDEx NetworkSPTAN1
Atlas of Cancer Signalling NetworkSPTAN1
Wikipedia pathwaysSPTAN1
Orthology - Evolution
OrthoDB6709
GeneTree (enSembl)ENSG00000197694
Phylogenetic Trees/Animal Genes : TreeFamSPTAN1
HOVERGENQ13813
HOGENOMQ13813
Homologs : HomoloGeneSPTAN1
Homology/Alignments : Family Browser (UCSC)SPTAN1
Gene fusions - Rearrangements
Fusion : MitelmanADK/SPTAN1 [10q22.2/9q34.11]  [t(9;10)(q34;q22)]  
Fusion : MitelmanDOLPP1/SPTAN1 [9q34.11/9q34.11]  [t(9;9)(q34;q34)]  
Fusion : MitelmanSPTAN1/AUH [9q34.11/9q22.31]  [t(9;9)(q22;q34)]  
Fusion : MitelmanSPTAN1/CADPS2 [9q34.11/7q31.32]  [t(7;9)(q31;q34)]  
Fusion : MitelmanSPTAN1/GLE1 [9q34.11/9q34.11]  [t(9;9)(q34;q34)]  
Fusion : MitelmanSPTAN1/MAPKAP1 [9q34.11/9q33.3]  [t(9;9)(q33;q34)]  
Fusion: TCGAADK 10q22.2 SPTAN1 9q34.11 BRCA
Fusion: TCGADOLPP1 9q34.11 SPTAN1 9q34.11 BRCA
Fusion: TCGASPTAN1 9q34.11 AUH 9q22.31 BRCA
Fusion: TCGASPTAN1 9q34.11 CADPS2 7q31.32 BRCA
Fusion: TCGASPTAN1 9q34.11 GLE1 9q34.11 BRCA
Fusion: TCGASPTAN1 9q34.11 MAPKAP1 9q33.3 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPTAN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTAN1
dbVarSPTAN1
ClinVarSPTAN1
1000_GenomesSPTAN1 
Exome Variant ServerSPTAN1
ExAC (Exome Aggregation Consortium)SPTAN1 (select the gene name)
Genetic variants : HAPMAP6709
Genomic Variants (DGV)SPTAN1 [DGVbeta]
DECIPHERSPTAN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPTAN1 
Mutations
ICGC Data PortalSPTAN1 
TCGA Data PortalSPTAN1 
Broad Tumor PortalSPTAN1
OASIS PortalSPTAN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTAN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPTAN1
intOGen PortalSPTAN1
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)Mendelian genes
BioMutasearch SPTAN1
DgiDB (Drug Gene Interaction Database)SPTAN1
DoCM (Curated mutations)SPTAN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPTAN1 (select a term)
intoGenSPTAN1
Cancer3DSPTAN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182810    613477   
Orphanet894   
MedgenSPTAN1
Genetic Testing Registry SPTAN1
NextProtQ13813 [Medical]
TSGene6709
GENETestsSPTAN1
Target ValidationSPTAN1
Huge Navigator SPTAN1 [HugePedia]
snp3D : Map Gene to Disease6709
BioCentury BCIQSPTAN1
ClinGenSPTAN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6709
Chemical/Pharm GKB GenePA36102
Clinical trialSPTAN1
Miscellaneous
canSAR (ICR)SPTAN1 (select the gene name)
Probes
Litterature
PubMed143 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPTAN1
EVEXSPTAN1
GoPubMedSPTAN1
iHOPSPTAN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:15:36 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.