Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GFAP (glial fibrillary acidic protein)

Identity

Alias (NCBI)ALXDRD
HGNC (Hugo) GFAP
HGNC Alias symbFLJ45472
HGNC Alias nameintermediate filament protein
LocusID (NCBI) 2670
Atlas_Id 50981
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 44903159 and ends at 44915500 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)
BBS1 (11q13.2) / GFAP (17q21.31)BTBD9 (6p21.2) / GFAP (17q21.31)DESI2 (1q44) / GFAP (17q21.31)
GFAP (17q21.31) / CPVL (7p14.3)GFAP (17q21.31) / GFAP (17q21.31)RASA3 (13q34) / GFAP (17q21.31)

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) [ 1 ]
  t(8;17)(p21;q21) DPYSL2/GFAP


External links

Nomenclature
HGNC (Hugo)GFAP   4235
Cards
Entrez_Gene (NCBI)GFAP    glial fibrillary acidic protein
AliasesALXDRD
GeneCards (Weizmann)GFAP
Ensembl hg19 (Hinxton)ENSG00000131095 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131095 [Gene_View]  ENSG00000131095 [Sequence]  chr17:44903159-44915500 [Contig_View]  GFAP [Vega]
ICGC DataPortalENSG00000131095
TCGA cBioPortalGFAP
AceView (NCBI)GFAP
Genatlas (Paris)GFAP
SOURCE (Princeton)GFAP
Genetics Home Reference (NIH)GFAP
Genomic and cartography
GoldenPath hg38 (UCSC)GFAP  -     chr17:44903159-44915500 -  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GFAP  -     17q21.31   [Description]    (hg19-Feb_2009)
GoldenPathGFAP - 17q21.31 [CytoView hg19]  GFAP - 17q21.31 [CytoView hg38]
ImmunoBaseENSG00000131095
genome Data Viewer NCBIGFAP [Mapview hg19]  
OMIM137780   203450   
Gene and transcription
Genbank (Entrez)AF419299 AJ306447 AK098380 AK098758 AK124465
RefSeq transcript (Entrez)NM_001131019 NM_001242376 NM_001363846 NM_002055
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GFAP
Alternative Splicing GalleryENSG00000131095
Gene ExpressionGFAP [ NCBI-GEO ]   GFAP [ EBI - ARRAY_EXPRESS ]   GFAP [ SEEK ]   GFAP [ MEM ]
Gene Expression Viewer (FireBrowse)GFAP [ Firebrowse - Broad ]
GenevisibleExpression of GFAP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2670
GTEX Portal (Tissue expression)GFAP
Human Protein AtlasENSG00000131095-GFAP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14136   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14136  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14136
Splice isoforms : SwissVarP14136
PhosPhoSitePlusP14136
Domaine pattern : Prosite (Expaxy)IF_ROD_1 (PS00226)    IF_ROD_2 (PS51842)   
Domains : Interpro (EBI)GFAP    IF_conserved    IF_rod_dom    IF_rod_dom_coil1B    Intermed_filament_DNA-bd   
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)GFAP
Blocks (Seattle)GFAP
PDB (RSDB)6A9P   
PDB Europe6A9P   
PDB (PDBSum)6A9P   
PDB (IMB)6A9P   
Structural Biology KnowledgeBase6A9P   
SCOP (Structural Classification of Proteins)6A9P   
CATH (Classification of proteins structures)6A9P   
SuperfamilyP14136
Human Protein Atlas [tissue]ENSG00000131095-GFAP [tissue]
Peptide AtlasP14136
HPRD00675
IPIIPI00025363   IPI00383815   IPI00443478   IPI00909238   IPI01011386   IPI01009054   IPI00982111   
Protein Interaction databases
DIP (DOE-UCLA)P14136
IntAct (EBI)P14136
BioGRIDGFAP
STRING (EMBL)GFAP
ZODIACGFAP
Ontologies - Pathways
QuickGOP14136
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  cytoplasm  lysosome  cytosol  intermediate filament  identical protein binding  regulation of protein complex assembly  intermediate filament organization  intermediate filament cytoskeleton  regulation of chaperone-mediated autophagy  regulation of chaperone-mediated autophagy  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  cytoplasm  lysosome  cytosol  intermediate filament  identical protein binding  regulation of protein complex assembly  intermediate filament organization  intermediate filament cytoskeleton  regulation of chaperone-mediated autophagy  regulation of chaperone-mediated autophagy  
NDEx NetworkGFAP
Atlas of Cancer Signalling NetworkGFAP
Wikipedia pathwaysGFAP
Orthology - Evolution
OrthoDB2670
GeneTree (enSembl)ENSG00000131095
Phylogenetic Trees/Animal Genes : TreeFamGFAP
HOGENOMP14136
Homologs : HomoloGeneGFAP
Homology/Alignments : Family Browser (UCSC)GFAP
Gene fusions - Rearrangements
Fusion : QuiverGFAP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGFAP [hg38]
dbVarGFAP
ClinVarGFAP
MonarchGFAP
1000_GenomesGFAP 
Exome Variant ServerGFAP
GNOMAD BrowserENSG00000131095
Varsome BrowserGFAP
Genomic Variants (DGV)GFAP [DGVbeta]
DECIPHERGFAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGFAP 
Mutations
ICGC Data PortalGFAP 
TCGA Data PortalGFAP 
Broad Tumor PortalGFAP
OASIS PortalGFAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGFAP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGFAP
Mutations and Diseases : HGMDGFAP
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 GFAP
DgiDB (Drug Gene Interaction Database)GFAP
DoCM (Curated mutations)GFAP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GFAP (select a term)
intoGenGFAP
Cancer3DGFAP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137780    203450   
Orphanet22345    22344   
DisGeNETGFAP
MedgenGFAP
Genetic Testing Registry GFAP
NextProtP14136 [Medical]
GENETestsGFAP
Target ValidationGFAP
Huge Navigator GFAP [HugePedia]
ClinGenGFAP
Clinical trials, drugs, therapy
MyCancerGenomeGFAP
Protein Interactions : CTD
Pharm GKB GenePA28647
PharosP14136
Clinical trialGFAP
Miscellaneous
canSAR (ICR)GFAP (select the gene name)
HarmonizomeGFAP
DataMed IndexGFAP
Probes
Litterature
PubMed272 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGFAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:16:55 CET 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.