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GMCL1 (germ cell-less, spermatogenesis associated 1)

Identity

Alias_namesgerm cell-less homolog 1 (Drosophila)
Alias_symbol (synonym)FLJ13057
BTBD13
GCL1
SPATA29
Other aliasGCL
HGNC (Hugo) GMCL1
LocusID (NCBI) 64395
Atlas_Id 53214
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 69829606 and ends at 69881395 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)
C9orf72 (9p21.2) / GMCL1 (2p13.3)GMCL1 (2p13.3) / AAK1 (2p13.3)GMCL1 (2p13.3) / ANXA4 (2p13.3)
GMCL1 2p13.3 / ANXA4 2p13.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;2)(p13;p13) GMCL1/AAK1
t(2;2)(p13;p13) GMCL1/ANXA4

External links

Nomenclature
HGNC (Hugo)GMCL1   23843
Cards
Entrez_Gene (NCBI)GMCL1  64395  germ cell-less, spermatogenesis associated 1
AliasesBTBD13; GCL; GCL1; SPATA29
GeneCards (Weizmann)GMCL1
Ensembl hg19 (Hinxton)ENSG00000087338 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087338 [Gene_View]  chr2:69829606-69881395 [Contig_View]  GMCL1 [Vega]
ICGC DataPortalENSG00000087338
TCGA cBioPortalGMCL1
AceView (NCBI)GMCL1
Genatlas (Paris)GMCL1
WikiGenes64395
SOURCE (Princeton)GMCL1
Genetics Home Reference (NIH)GMCL1
Genomic and cartography
GoldenPath hg38 (UCSC)GMCL1  -     chr2:69829606-69881395 +  2p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GMCL1  -     2p13.3   [Description]    (hg19-Feb_2009)
EnsemblGMCL1 - 2p13.3 [CytoView hg19]  GMCL1 - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIGMCL1 [Mapview hg19]  GMCL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI093913 AK023119 AK023261 AK024042 BC007420
RefSeq transcript (Entrez)NM_178439
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GMCL1
Cluster EST : UnigeneHs.667102 [ NCBI ]
CGAP (NCI)Hs.667102
Alternative Splicing GalleryENSG00000087338
Gene ExpressionGMCL1 [ NCBI-GEO ]   GMCL1 [ EBI - ARRAY_EXPRESS ]   GMCL1 [ SEEK ]   GMCL1 [ MEM ]
Gene Expression Viewer (FireBrowse)GMCL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64395
GTEX Portal (Tissue expression)GMCL1
Human Protein AtlasENSG00000087338-GMCL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96IK5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96IK5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96IK5
Splice isoforms : SwissVarQ96IK5
PhosPhoSitePlusQ96IK5
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB/POZ_dom    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)   
Domain families : Pfam (NCBI)pfam07707    pfam00651   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  
Conserved Domain (NCBI)GMCL1
DMDM Disease mutations64395
Blocks (Seattle)GMCL1
SuperfamilyQ96IK5
Human Protein Atlas [tissue]ENSG00000087338-GMCL1 [tissue]
Peptide AtlasQ96IK5
HPRD13587
IPIIPI00063669   IPI00930311   IPI00930316   
Protein Interaction databases
DIP (DOE-UCLA)Q96IK5
IntAct (EBI)Q96IK5
FunCoupENSG00000087338
BioGRIDGMCL1
STRING (EMBL)GMCL1
ZODIACGMCL1
Ontologies - Pathways
QuickGOQ96IK5
Ontology : AmiGOubiquitin ligase complex  protein binding  nucleus  nuclear envelope  regulation of transcription, DNA-templated  multicellular organism development  spermatogenesis  nuclear matrix  cell differentiation  identical protein binding  
Ontology : EGO-EBIubiquitin ligase complex  protein binding  nucleus  nuclear envelope  regulation of transcription, DNA-templated  multicellular organism development  spermatogenesis  nuclear matrix  cell differentiation  identical protein binding  
NDEx NetworkGMCL1
Atlas of Cancer Signalling NetworkGMCL1
Wikipedia pathwaysGMCL1
Orthology - Evolution
OrthoDB64395
GeneTree (enSembl)ENSG00000087338
Phylogenetic Trees/Animal Genes : TreeFamGMCL1
HOVERGENQ96IK5
HOGENOMQ96IK5
Homologs : HomoloGeneGMCL1
Homology/Alignments : Family Browser (UCSC)GMCL1
Gene fusions - Rearrangements
Fusion : MitelmanGMCL1/AAK1 [2p13.3/2p13.3]  
Fusion : MitelmanGMCL1/ANXA4 [2p13.3/2p13.3]  [t(2;2)(p13;p13)]  
Fusion: TCGA_MDACCGMCL1 2p13.3 ANXA4 2p13.3 LUAD
Fusion PortalGMCL1 2p13.3 ANXA4 2p13.3 LUAD
Fusion : QuiverGMCL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGMCL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GMCL1
dbVarGMCL1
ClinVarGMCL1
1000_GenomesGMCL1 
Exome Variant ServerGMCL1
ExAC (Exome Aggregation Consortium)ENSG00000087338
GNOMAD BrowserENSG00000087338
Genetic variants : HAPMAP64395
Genomic Variants (DGV)GMCL1 [DGVbeta]
DECIPHERGMCL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGMCL1 
Mutations
ICGC Data PortalGMCL1 
TCGA Data PortalGMCL1 
Broad Tumor PortalGMCL1
OASIS PortalGMCL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGMCL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGMCL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GMCL1
DgiDB (Drug Gene Interaction Database)GMCL1
DoCM (Curated mutations)GMCL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GMCL1 (select a term)
intoGenGMCL1
Cancer3DGMCL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETGMCL1
MedgenGMCL1
Genetic Testing Registry GMCL1
NextProtQ96IK5 [Medical]
TSGene64395
GENETestsGMCL1
Target ValidationGMCL1
Huge Navigator GMCL1 [HugePedia]
snp3D : Map Gene to Disease64395
BioCentury BCIQGMCL1
ClinGenGMCL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64395
Chemical/Pharm GKB GenePA143485477
Clinical trialGMCL1
Miscellaneous
canSAR (ICR)GMCL1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGMCL1
EVEXGMCL1
GoPubMedGMCL1
iHOPGMCL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 28 13:14:27 CET 2018
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