Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SEPTIN11 (septin 11)

Identity

Alias_names12-Sep
Alias_symbol (synonym)FLJ10849
Other alias
HGNC (Hugo) SEPTIN11
LocusID (NCBI) 55752
Atlas_Id 172
Location 4q21.1  [Link to chromosome band 4q21]
Location_base_pair Starts at 76949752 and ends at 77038615 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)
PPP3CA 4q24 / SEPT11 4q21.1
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

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(X;11)(q24;q23) KMT2A/SEPT6
t(4;11)(q21;q23) KMT2A/SEPT11

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;4)(q21;q24) PPP3CA/SEPT11

External links

Nomenclature
HGNC (Hugo)SEPTIN11   25589
Cards
Entrez_Gene (NCBI)SEPTIN11  55752  septin 11
Aliases12-Sep
GeneCards (Weizmann)SEPTIN11
Ensembl hg19 (Hinxton)ENSG00000138758 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138758 [Gene_View]  ENSG00000138758 [Sequence]  chr4:76949752-77038615 [Contig_View]  SEPTIN11 [Vega]
ICGC DataPortalENSG00000138758
TCGA cBioPortalSEPTIN11
AceView (NCBI)SEPTIN11
Genatlas (Paris)SEPTIN11
WikiGenes55752
SOURCE (Princeton)SEPTIN11
Genetics Home Reference (NIH)SEPTIN11
Genomic and cartography
GoldenPath hg38 (UCSC)SEPTIN11  -     chr4:76949752-77038615 +  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPTIN11  -     -   [Description]    (hg19-Feb_2009)
GoldenPathSEPTIN11 - - [CytoView hg19]  SEPTIN11 - - [CytoView hg38]
Genome Data Viewer NCBISEPTIN11 [Mapview hg19]  
OMIM612887   
Gene and transcription
Genbank (Entrez)AI580485 AI741944 AK001711 AK027279 AK027633
RefSeq transcript (Entrez)NM_001306147 NM_018243
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPTIN11
Alternative Splicing GalleryENSG00000138758
Gene ExpressionSEPTIN11 [ NCBI-GEO ]   SEPTIN11 [ EBI - ARRAY_EXPRESS ]   SEPTIN11 [ SEEK ]   SEPTIN11 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPTIN11 [ Firebrowse - Broad ]
GenevisibleExpression of SEPTIN11 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55752
GTEX Portal (Tissue expression)SEPTIN11
Human Protein AtlasENSG00000138758-SEPTIN11 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVA2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NVA2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NVA2
Splice isoforms : SwissVarQ9NVA2
PhosPhoSitePlusQ9NVA2
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    Septin   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Conserved Domain (NCBI)SEPTIN11
DMDM Disease mutations55752
SuperfamilyQ9NVA2
Human Protein Atlas [tissue]ENSG00000138758-SEPTIN11 [tissue]
Peptide AtlasQ9NVA2
HPRD08555
IPIIPI00952909   IPI00019376   IPI00967716   IPI00963822   IPI00964937   IPI00964658   IPI00964663   IPI00967443   IPI00965828   
Protein Interaction databases
DIP (DOE-UCLA)Q9NVA2
IntAct (EBI)Q9NVA2
FunCoupENSG00000138758
BioGRIDSEPTIN11
STRING (EMBL)SEPTIN11
ZODIACSEPTIN11
Ontologies - Pathways
QuickGOQ9NVA2
Ontology : AmiGOstress fiber  GTPase activity  protein binding  GTP binding  septin ring  microtubule cytoskeleton  axon  septin complex  septin complex  septin complex  cell division site  cellular protein localization  dendritic spine  regulation of synapse organization  molecular adaptor activity  cytoskeleton-dependent cytokinesis  glutamatergic synapse  GABA-ergic synapse  postsynaptic specialization of symmetric synapse  
Ontology : EGO-EBIstress fiber  GTPase activity  protein binding  GTP binding  septin ring  microtubule cytoskeleton  axon  septin complex  septin complex  septin complex  cell division site  cellular protein localization  dendritic spine  regulation of synapse organization  molecular adaptor activity  cytoskeleton-dependent cytokinesis  glutamatergic synapse  GABA-ergic synapse  postsynaptic specialization of symmetric synapse  
NDEx NetworkSEPTIN11
Atlas of Cancer Signalling NetworkSEPTIN11
Wikipedia pathwaysSEPTIN11
Orthology - Evolution
OrthoDB55752
GeneTree (enSembl)ENSG00000138758
Phylogenetic Trees/Animal Genes : TreeFamSEPTIN11
HOGENOMQ9NVA2
Homologs : HomoloGeneSEPTIN11
Homology/Alignments : Family Browser (UCSC)SEPTIN11
Gene fusions - Rearrangements
Fusion : MitelmanPPP3CA/SEPT11 [4q24/4q21.1]  
Fusion PortalPPP3CA 4q24 SEPT11 4q21.1 PRAD
Fusion : QuiverSEPTIN11
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPTIN11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPTIN11
dbVarSEPTIN11
ClinVarSEPTIN11
1000_GenomesSEPTIN11 
Exome Variant ServerSEPTIN11
GNOMAD BrowserENSG00000138758
Varsome BrowserSEPTIN11
Genetic variants : HAPMAP55752
Genomic Variants (DGV)SEPTIN11 [DGVbeta]
DECIPHERSEPTIN11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPTIN11 
Mutations
ICGC Data PortalSEPTIN11 
TCGA Data PortalSEPTIN11 
Broad Tumor PortalSEPTIN11
OASIS PortalSEPTIN11 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSEPTIN11
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
BioMutaselect SEPTIN11
DgiDB (Drug Gene Interaction Database)SEPTIN11
DoCM (Curated mutations)SEPTIN11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPTIN11 (select a term)
intoGenSEPTIN11
Cancer3DSEPTIN11 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612887   
Orphanet
DisGeNETSEPTIN11
MedgenSEPTIN11
Genetic Testing Registry SEPTIN11
NextProtQ9NVA2 [Medical]
TSGene55752
GENETestsSEPTIN11
Open Targets GeneticsENSG00000138758  [validation]
snp3D : Map Gene to Disease55752
BioCentury BCIQSEPTIN11
ClinGenSEPTIN11
Clinical trials, drugs, therapy
Protein Interactions : CTD55752
Pharm GKB GenePA128394688
Clinical trialSEPTIN11
Miscellaneous
canSAR (ICR)SEPTIN11 (select the gene name)
HarmonizomeSEPTIN11
DataMed IndexSEPTIN11
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPTIN11
EVEXSEPTIN11
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 : Sat Jul 11 20:10:44 CEST 2020
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