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SEPT6 (septin 6)

Written2002-12Uta Fuchs, Arndt Borkhardt
Children's University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

(Note : for Links provided by Atlas : click)

Identity

Other namesKIAA0128
HGNC (Hugo) SEPT6
LocusID (NCBI) 23157
Atlas_Id 376
Location Xq24  [Link to chromosome band Xq24]
Location_base_pair Starts at 118750909 and ends at 118827333 bp from pter ( according to hg19-Feb_2009)  [Mapping SEPT6.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
EIF3L (22q13.1) / SEPT6 (Xq24)INSR (19p13.2) / SEPT6 (Xq24)KMT2A (11q23.3) / SEPT6 (Xq24)
SEPT6 (Xq24) / CUL4B (Xq24)SEPT6 (Xq24) / GNB5 (15q21.2)SEPT6 (Xq24) / KMT2A (11q23.3)

DNA/RNA

Description 12 Exons
Transcription Four types of transcripts: 2,3kb, 2,7kb, 3,1kb and 4,6kb coding for three isoforms.

Protein

 
Description Isoform A: 427 amino acids; 46,9 kDa.
Isoform B: 434 amino acids; 49,7 kDa.
Isoform D: 429 amino acids; 47,2 kDa.
Expression Ubiquitously expressed; highest levels in placenta, lung, kidney and testes, the 2,7kb transcript can be found only in fetal heart and adult brain tissue.
Localisation Cytoplasmatic
Function The conserved septin protein family was first identified in yeast and subsequently shown to play an important role in cytoskeletal organization and cytokinesis.

Implicated in

Note
Entity acute myloid leukemia
Disease AML-M2 and M4
Cytogenetics ins(X;11)(q24;q23) ins(X;11)(q22-24;q23) t(X;3)(q22;p21) ins(X;11)(q22;q13q25)
Hybrid/Mutated Gene MLL-Septin 6
 
Abnormal Protein MLL exons 1 to 8 - Septin 6 exon 2 to end
Oncogenesis basically unknown
  

Bibliography

An ins(X;11)(q24;q23) fuses the MLL and the Septin 6/KIAA0128 gene in an infant with AML-M2.
Borkhardt A, Teigler-Schlegel A, Fuchs U, Keller C, König M, Harbott J, Haas OA
Genes, chromosomes & cancer. 2001 ; 32 (1) : 82-88.
PMID 11477664
 
Septins: cytoskeletal polymers or signalling GTPases?
Field CM, Kellogg D
Trends in cell biology. 1999 ; 9 (10) : 387-394.
PMID 10481176
 
SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24.
Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y
Cancer research. 2002 ; 62 (2) : 333-337.
PMID 11809673
 
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site.
Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA
Oncogene. 2002 ; 21 (30) : 4706-4714.
PMID 12096348
 

Citation

This paper should be referenced as such :
Fuchs, U ; Borkhardt, A
SEPT6(septin 6)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):24-25.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SEPTIN6ID376.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(X;11)(q22;q23) KMT2A/?
t(X;11)(q24;q23) KMT2A/SEPT6

External links

Nomenclature
HGNC (Hugo)Sep-06   15848
Cards
AtlasSEPTIN6ID376
Entrez_Gene (NCBI)SEPT6  23157  septin 6
AliasesSEP2; SEPT2
GeneCards (Weizmann)SEPT6
Ensembl hg19 (Hinxton)ENSG00000125354 [Gene_View]  chrX:118750909-118827333 [Contig_View]  SEPT6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125354 [Gene_View]  chrX:118750909-118827333 [Contig_View]  SEPT6 [Vega]
ICGC DataPortalENSG00000125354
TCGA cBioPortalSEPT6
AceView (NCBI)SEPT6
Genatlas (Paris)SEPT6
WikiGenes23157
SOURCE (Princeton)SEPT6
Genomic and cartography
GoldenPath hg19 (UCSC)SEPT6  -     chrX:118750909-118827333 -  Xq24   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SEPT6  -     Xq24   [Description]    (hg38-Dec_2013)
EnsemblSEPT6 - Xq24 [CytoView hg19]  SEPT6 - Xq24 [CytoView hg38]
Mapping of homologs : NCBISEPT6 [Mapview hg19]  SEPT6 [Mapview hg38]
OMIM300683   
Gene and transcription
Genbank (Entrez)AF397023 AF403058 AF403059 AF403060 AF403061
RefSeq transcript (Entrez)NM_015129 NM_145799 NM_145800 NM_145802
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012565 NT_011786 NW_004929446
Consensus coding sequences : CCDS (NCBI)SEPT6
Cluster EST : UnigeneHs.496666 [ NCBI ]
CGAP (NCI)Hs.496666
Alternative Splicing GalleryENSG00000125354
Gene ExpressionSEPT6 [ NCBI-GEO ]   SEPT6 [ EBI - ARRAY_EXPRESS ]   SEPT6 [ SEEK ]   SEPT6 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPT6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23157
GTEX Portal (Tissue expression)SEPT6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14141 (Uniprot)
NextProtQ14141  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14141
Splice isoforms : SwissVarQ14141 (Swissvar)
PhosPhoSitePlusQ14141
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    SEPT6    Septin   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
DMDM Disease mutations23157
Blocks (Seattle)SEPT6
PDB (SRS)2QAG   
PDB (PDBSum)2QAG   
PDB (IMB)2QAG   
PDB (RSDB)2QAG   
Structural Biology KnowledgeBase2QAG   
SCOP (Structural Classification of Proteins)2QAG   
CATH (Classification of proteins structures)2QAG   
SuperfamilyQ14141
Human Protein AtlasENSG00000125354
Peptide AtlasQ14141
HPRD06716
IPIIPI00941331   IPI00216139   IPI00744597   IPI00376992   IPI00550119   IPI01011087   IPI00644857   
Protein Interaction databases
DIP (DOE-UCLA)Q14141
IntAct (EBI)Q14141
FunCoupENSG00000125354
BioGRIDSEPT6
STRING (EMBL)SEPT6
ZODIACSEPT6
Ontologies - Pathways
QuickGOQ14141
Ontology : AmiGOcondensed chromosome kinetochore  cytokinesis  protein binding  GTP binding  spindle  synaptic vesicle  viral process  midbody  septin complex  cleavage furrow  axon terminus  
Ontology : EGO-EBIcondensed chromosome kinetochore  cytokinesis  protein binding  GTP binding  spindle  synaptic vesicle  viral process  midbody  septin complex  cleavage furrow  axon terminus  
Pathways : KEGGBacterial invasion of epithelial cells   
NDEx NetworkSEPT6
Atlas of Cancer Signalling NetworkSEPT6
Wikipedia pathwaysSEPT6
Orthology - Evolution
OrthoDB23157
GeneTree (enSembl)ENSG00000125354
Phylogenetic Trees/Animal Genes : TreeFamSep-06
Homologs : HomoloGeneSEPT6
Homology/Alignments : Family Browser (UCSC)SEPT6
Gene fusions - Rearrangements
Fusion : COSMICKMT2A [11q23.3]  -  SEPT6 [Xq24]  [fusion_1916]  [fusion_1917]  [fusion_1918]  [fusion_1919]  [fusion_1922]  [fusion_1923]  [fusion_1924]  
[fusion_1925]  [fusion_1926]  [fusion_2069]  
Fusion: TCGASEPT6 Xq24 CUL4B Xq24 BLCA
Fusion : TICdbKMT2A [11q23.3]  -  SEPT6 [Xq24]
Polymorphisms : SNP, variants
NCBI Variation ViewerSEPT6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPT6
dbVarSEPT6
ClinVarSEPT6
1000_GenomesSEPT6 
Exome Variant ServerSEPT6
ExAC (Exome Aggregation Consortium)SEPT6 (select the gene name)
Genetic variants : HAPMAP23157
Genomic Variants (DGV)SEPT6 [DGVbeta]
Mutations
ICGC Data PortalSep-06 
TCGA Data PortalSep-06 
Broad Tumor PortalSep-06
OASIS PortalSep-06 [ Somatic mutations - Copy number]
Cancer Gene: CensusSEPT6 
Somatic Mutations in Cancer : COSMICSEPT6 
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)X-chromosome gene database
BioMutasearch SEPT6
DgiDB (Drug Gene Interaction Database)SEPT6
DoCM (Curated mutations)SEPT6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPT6 (select a term)
intoGenSEPT6
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:118750909-118827333  ENSG00000125354
CONAN: Copy Number AnalysisSEPT6 
Mutations and Diseases : HGMDSep-06
OMIM300683   
MedgenSEPT6
Genetic Testing Registry SEPT6
NextProtQ14141 [Medical]
TSGene23157
GENETestsSEPT6
Huge Navigator Sep-06 [HugePedia]
snp3D : Map Gene to Disease23157
BioCentury BCIQSEPT6
ClinGenSEPT6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23157
Chemical/Pharm GKB GenePA134941944
Clinical trialSEPT6
Miscellaneous
canSAR (ICR)SEPT6 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPT6
EVEXSEPT6
GoPubMedSEPT6
iHOPSEPT6
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 28 15:50:26 CEST 2016

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