Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GDAP1 (ganglioside induced differentiation associated protein 1)

Identity

Alias (NCBI)CMT4
CMT4A
CMTRIA
HGNC (Hugo) GDAP1
HGNC Alias symbCMT4
CMT2K
HGNC Previous nameCMT4A
HGNC Previous nameCharcot-Marie-Tooth neuropathy 4A
LocusID (NCBI) 54332
Atlas_Id 52818
Location 8q21.11  [Link to chromosome band 8q21]
Location_base_pair Starts at 74350403 and ends at 74366875 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)

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)GDAP1   15968
LRG (Locus Reference Genomic)LRG_244
Cards
Entrez_Gene (NCBI)GDAP1  54332  ganglioside induced differentiation associated protein 1
AliasesCMT4; CMT4A; CMTRIA
GeneCards (Weizmann)GDAP1
Ensembl hg19 (Hinxton)ENSG00000104381 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104381 [Gene_View]  ENSG00000104381 [Sequence]  chr8:74350403-74366875 [Contig_View]  GDAP1 [Vega]
ICGC DataPortalENSG00000104381
TCGA cBioPortalGDAP1
AceView (NCBI)GDAP1
Genatlas (Paris)GDAP1
WikiGenes54332
SOURCE (Princeton)GDAP1
Genetics Home Reference (NIH)GDAP1
Genomic and cartography
GoldenPath hg38 (UCSC)GDAP1  -     chr8:74350403-74366875 +  8q21.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GDAP1  -     8q21.11   [Description]    (hg19-Feb_2009)
GoldenPathGDAP1 - 8q21.11 [CytoView hg19]  GDAP1 - 8q21.11 [CytoView hg38]
ImmunoBaseENSG00000104381
genome Data Viewer NCBIGDAP1 [Mapview hg19]  
OMIM214400   606598   607706   607831   608340   
Gene and transcription
Genbank (Entrez)AB551556 AB551557 AB551558 AK292572 AK295594
RefSeq transcript (Entrez)NM_001040875 NM_001362929 NM_001362930 NM_001362931 NM_001362932 NM_018972
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GDAP1
Alternative Splicing GalleryENSG00000104381
Gene ExpressionGDAP1 [ NCBI-GEO ]   GDAP1 [ EBI - ARRAY_EXPRESS ]   GDAP1 [ SEEK ]   GDAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)GDAP1 [ Firebrowse - Broad ]
GenevisibleExpression of GDAP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54332
GTEX Portal (Tissue expression)GDAP1
Human Protein AtlasENSG00000104381-GDAP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TB36   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TB36  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TB36
Splice isoforms : SwissVarQ8TB36
PhosPhoSitePlusQ8TB36
Domaine pattern : Prosite (Expaxy)GST_CTER (PS50405)    GST_NTER (PS50404)   
Domains : Interpro (EBI)GDAP1    Glutathione-S-Trfase_C-like    Glutathione-S-Trfase_C_sf    Glutathione_S-Trfase    Glutathione_S-Trfase_N    Thioredoxin-like_sf   
Domain families : Pfam (Sanger)GST_N_3 (PF13417)   
Domain families : Pfam (NCBI)pfam13417   
Conserved Domain (NCBI)GDAP1
DMDM Disease mutations54332
Blocks (Seattle)GDAP1
SuperfamilyQ8TB36
Human Protein Atlas [tissue]ENSG00000104381-GDAP1 [tissue]
Peptide AtlasQ8TB36
HPRD05963
IPIIPI00877014   IPI00290544   IPI00980842   
Protein Interaction databases
DIP (DOE-UCLA)Q8TB36
IntAct (EBI)Q8TB36
FunCoupENSG00000104381
BioGRIDGDAP1
STRING (EMBL)GDAP1
ZODIACGDAP1
Ontologies - Pathways
QuickGOQ8TB36
Ontology : AmiGOmitochondrial fission  mitochondrial fission  nucleus  mitochondrion  mitochondrion  cytosol  protein targeting to mitochondrion  protein targeting to mitochondrion  mitochondrion organization  mitochondrial fusion  mitochondrial fusion  membrane  integral component of mitochondrial outer membrane  integral component of mitochondrial outer membrane  response to retinoic acid  cellular response to vitamin D  
Ontology : EGO-EBImitochondrial fission  mitochondrial fission  nucleus  mitochondrion  mitochondrion  cytosol  protein targeting to mitochondrion  protein targeting to mitochondrion  mitochondrion organization  mitochondrial fusion  mitochondrial fusion  membrane  integral component of mitochondrial outer membrane  integral component of mitochondrial outer membrane  response to retinoic acid  cellular response to vitamin D  
NDEx NetworkGDAP1
Atlas of Cancer Signalling NetworkGDAP1
Wikipedia pathwaysGDAP1
Orthology - Evolution
OrthoDB54332
GeneTree (enSembl)ENSG00000104381
Phylogenetic Trees/Animal Genes : TreeFamGDAP1
HOGENOMQ8TB36
Homologs : HomoloGeneGDAP1
Homology/Alignments : Family Browser (UCSC)GDAP1
Gene fusions - Rearrangements
Fusion : QuiverGDAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGDAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GDAP1
dbVarGDAP1
ClinVarGDAP1
MonarchGDAP1
1000_GenomesGDAP1 
Exome Variant ServerGDAP1
GNOMAD BrowserENSG00000104381
Varsome BrowserGDAP1
Genetic variants : HAPMAP54332
Genomic Variants (DGV)GDAP1 [DGVbeta]
DECIPHERGDAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGDAP1 
Mutations
ICGC Data PortalGDAP1 
TCGA Data PortalGDAP1 
Broad Tumor PortalGDAP1
OASIS PortalGDAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGDAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGDAP1
Mutations and Diseases : HGMDGDAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GDAP1
DgiDB (Drug Gene Interaction Database)GDAP1
DoCM (Curated mutations)GDAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GDAP1 (select a term)
intoGenGDAP1
Cancer3DGDAP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM214400    606598    607706    607831    608340   
Orphanet18817    14813    14808    14521    14517   
DisGeNETGDAP1
MedgenGDAP1
Genetic Testing Registry GDAP1
NextProtQ8TB36 [Medical]
TSGene54332
GENETestsGDAP1
Target ValidationGDAP1
Huge Navigator GDAP1 [HugePedia]
snp3D : Map Gene to Disease54332
BioCentury BCIQGDAP1
ClinGenGDAP1
Clinical trials, drugs, therapy
Protein Interactions : CTD54332
Pharm GKB GenePA28626
Clinical trialGDAP1
Miscellaneous
canSAR (ICR)GDAP1 (select the gene name)
HarmonizomeGDAP1
DataMed IndexGDAP1
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGDAP1
EVEXGDAP1
GoPubMedGDAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:12:28 CEST 2020

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