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GAS7 (growth arrest-specific 7)

Written2000-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesKIAA0394
HGNC (Hugo) GAS7
LocusID (NCBI) 8522
Atlas_Id 257
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 9813926 and ends at 9929623 bp from pter ( according to hg19-Feb_2009)  [Mapping GAS7.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
ABR (17p13.3) / GAS7 (17p13.1)ACTA1 (1q42.13) / GAS7 (17p13.1)AIFM2 (10q22.1) / GAS7 (17p13.1)
FXR2 (17p13.1) / GAS7 (17p13.1)GAS7 (17p13.1) / AFF1 (4q21.3)GAS7 (17p13.1) / CHRM3 (1q43)
GAS7 (17p13.1) / DENND5A (11p15.4)GAS7 (17p13.1) / ELAVL2 (9p21.3)GAS7 (17p13.1) / GABRE (Xq28)
GAS7 (17p13.1) / GAS7 (17p13.1)GAS7 (17p13.1) / KMT2A (11q23.3)GAS7 (17p13.1) / MYH1 (17p13.1)
KMT2A (11q23.3) / GAS7 (17p13.1)

DNA/RNA

Description genomic sequence 167 kb; 14 exons
Transcription 8 kb mRNA; various splicings in the mouse

Protein

Description 412 aa
Expression in quiescent/terminally differenciated cells, like other GAS (herien the name Growth Arrest-Specific); selective expression in growth-arrested fibroblasts; GAS7 is predominantly expressed in the brain (in particular, in the mouse, in Purkinje cells of the cerebellum, at lower level in other tissues such as the heart and the testes); gas7 expression is associated with neurite formation (and overproduction of gas7 in neuroblastoma cells promotes neurite-like outgrowth) which suggests that GAS7 may have a role in promoting, and possibly maintaining, maturation and morphological differentiation of cerebellar neurons

Implicated in

Note
Entity treatment-related acute non lymphocytic leukemia with t(11;17)(q23;p13)
Disease only one case: a 13-year-old boy, with a M4 AML and a karyotype with an apparent del(11)(q23) (finally proved to be in reality a cryptic t(11;17)(q23;p13)); four months later the patient died; other cases of t(11;17)(q23;p13) have been described but the involvement of GAS7 has not been proved
Hybrid/Mutated Gene 5' MLL-3' GAS7; breakpoint in MLL intron 8, in MLL bcr; GAS7 breakpoint upstream of exon 1; fusion of mLL exon 7 or exon 8 to GAS7 exon 2
  

Bibliography

gas7: A gene expressed preferentially in growth-arrested fibroblasts and terminally differentiated Purkinje neurons affects neurite formation.
Ju YT, Chang AC, She BR, Tsaur ML, Hwang HM, Chao CC, Cohen SN, Lin-Chao S
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (19) : 11423-11428.
PMID 9736752
 
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.
Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ, Felix CA
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (6) : 2814-2819.
PMID 10706619
 

Citation

This paper should be referenced as such :
Huret, JL
GAS7 (growth arrest-specific 7)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):95-95.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/GAS7ID257.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(11;17)(q23;p13) KMT2A/GAS7

External links

Nomenclature
HGNC (Hugo)GAS7   4169
Cards
AtlasGAS7ID257
Entrez_Gene (NCBI)GAS7  8522  growth arrest specific 7
AliasesMLL/GAS7
GeneCards (Weizmann)GAS7
Ensembl hg19 (Hinxton)ENSG00000007237 [Gene_View]  chr17:9813926-9929623 [Contig_View]  GAS7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000007237 [Gene_View]  chr17:9813926-9929623 [Contig_View]  GAS7 [Vega]
ICGC DataPortalENSG00000007237
TCGA cBioPortalGAS7
AceView (NCBI)GAS7
Genatlas (Paris)GAS7
WikiGenes8522
SOURCE (Princeton)GAS7
Genomic and cartography
GoldenPath hg19 (UCSC)GAS7  -     chr17:9813926-9929623 -  17p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GAS7  -     17p13.1   [Description]    (hg38-Dec_2013)
EnsemblGAS7 - 17p13.1 [CytoView hg19]  GAS7 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIGAS7 [Mapview hg19]  GAS7 [Mapview hg38]
OMIM603127   
Gene and transcription
Genbank (Entrez)AB007854 AB209030 AJ224876 AK057761 AK225165
RefSeq transcript (Entrez)NM_001130831 NM_003644 NM_201432 NM_201433
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_029502 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)GAS7
Cluster EST : UnigeneHs.462214 [ NCBI ]
CGAP (NCI)Hs.462214
Alternative Splicing GalleryENSG00000007237
Gene ExpressionGAS7 [ NCBI-GEO ]   GAS7 [ EBI - ARRAY_EXPRESS ]   GAS7 [ SEEK ]   GAS7 [ MEM ]
Gene Expression Viewer (FireBrowse)GAS7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8522
GTEX Portal (Tissue expression)GAS7
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60861 (Uniprot)
NextProtO60861  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60861
Splice isoforms : SwissVarO60861 (Swissvar)
PhosPhoSitePlusO60861
Domaine pattern : Prosite (Expaxy)F_BAR (PS51741)    SH3 (PS50002)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)F_BAR    FCH_dom    SH3_domain    WW_dom   
Domain families : Pfam (Sanger)FCH (PF00611)    SH3_9 (PF14604)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00611    pfam14604    pfam00397   
Domain families : Smart (EMBL)FCH (SM00055)  SH3 (SM00326)  WW (SM00456)  
DMDM Disease mutations8522
Blocks (Seattle)GAS7
PDB (SRS)2LX7    2YSH   
PDB (PDBSum)2LX7    2YSH   
PDB (IMB)2LX7    2YSH   
PDB (RSDB)2LX7    2YSH   
Structural Biology KnowledgeBase2LX7    2YSH   
SCOP (Structural Classification of Proteins)2LX7    2YSH   
CATH (Classification of proteins structures)2LX7    2YSH   
SuperfamilyO60861
Human Protein AtlasENSG00000007237
Peptide AtlasO60861
HPRD16011
IPIIPI00032371   IPI00216089   IPI00398632   IPI01013239   IPI00922264   IPI00922276   IPI01014175   IPI00796810   
Protein Interaction databases
DIP (DOE-UCLA)O60861
IntAct (EBI)O60861
FunCoupENSG00000007237
BioGRIDGAS7
STRING (EMBL)GAS7
ZODIACGAS7
Ontologies - Pathways
QuickGOO60861
Ontology : AmiGOtranscription factor activity, sequence-specific DNA binding  protein binding  cytoplasm  regulation of transcription, DNA-templated  cell cycle arrest  nervous system development  cell differentiation  
Ontology : EGO-EBItranscription factor activity, sequence-specific DNA binding  protein binding  cytoplasm  regulation of transcription, DNA-templated  cell cycle arrest  nervous system development  cell differentiation  
NDEx Network
Atlas of Cancer Signalling NetworkGAS7
Wikipedia pathwaysGAS7
Orthology - Evolution
OrthoDB8522
GeneTree (enSembl)ENSG00000007237
Phylogenetic Trees/Animal Genes : TreeFamGAS7
Homologs : HomoloGeneGAS7
Homology/Alignments : Family Browser (UCSC)GAS7
Gene fusions - Rearrangements
Fusion : MitelmanABR/GAS7 [17p13.3/17p13.1]  [t(17;17)(p13;p13)]  
Fusion : MitelmanGAS7/MYH1 [17p13.1/17p13.1]  [t(17;17)(p13;p13)]  
Fusion : COSMICKMT2A [11q23.3]  -  GAS7 [17p13.1]  [fusion_1890]  [fusion_1891]  [fusion_1892]  [fusion_1893]  
Fusion: TCGAABR 17p13.3 GAS7 17p13.1 LUSC
Fusion: TCGAGAS7 17p13.1 MYH1 17p13.1 LUAD
Fusion : TICdbKMT2A [11q23.3]  -  GAS7 [17p13.1]
Polymorphisms : SNP, variants
NCBI Variation ViewerGAS7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAS7
dbVarGAS7
ClinVarGAS7
1000_GenomesGAS7 
Exome Variant ServerGAS7
ExAC (Exome Aggregation Consortium)GAS7 (select the gene name)
Genetic variants : HAPMAP8522
Genomic Variants (DGV)GAS7 [DGVbeta]
Mutations
ICGC Data PortalGAS7 
TCGA Data PortalGAS7 
Broad Tumor PortalGAS7
OASIS PortalGAS7 [ Somatic mutations - Copy number]
Cancer Gene: CensusGAS7 
Somatic Mutations in Cancer : COSMICGAS7 
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
BioMutasearch GAS7
DgiDB (Drug Gene Interaction Database)GAS7
DoCM (Curated mutations)GAS7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAS7 (select a term)
intoGenGAS7
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:9813926-9929623  ENSG00000007237
CONAN: Copy Number AnalysisGAS7 
Mutations and Diseases : HGMDGAS7
OMIM603127   
MedgenGAS7
Genetic Testing Registry GAS7
NextProtO60861 [Medical]
TSGene8522
GENETestsGAS7
Huge Navigator GAS7 [HugePedia]
snp3D : Map Gene to Disease8522
BioCentury BCIQGAS7
ClinGenGAS7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8522
Chemical/Pharm GKB GenePA28583
Clinical trialGAS7
Miscellaneous
canSAR (ICR)GAS7 (select the gene name)
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAS7
EVEXGAS7
GoPubMedGAS7
iHOPGAS7
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 : Wed Aug 10 18:57:11 CEST 2016

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.