Atlas of Genetics and Cytogenetics in Oncology and Haematology

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FAAP100 (Fanconi anemia core complex associated protein 100)

Identity

Alias_names100kDa
C17orf70
Alias_symbol (synonym)FLJ22175
Other alias
HGNC (Hugo) FAAP100
LocusID (NCBI) 80233
Atlas_Id 50189
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 81539885 and ends at 81552403 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)
CFAP52 (17p13.1) / FAAP100 (17q25.3)FAAP100 (17q25.3) / NPLOC4 (17q25.3)

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) [ 1 ]
  t(17;17)(q25;q25) FAAP100/NPLOC4

External links

Nomenclature
HGNC (Hugo)FAAP100   26171
Cards
Entrez_Gene (NCBI)FAAP100  80233  Fanconi anemia core complex associated protein 100
AliasesC17orf70
GeneCards (Weizmann)FAAP100
Ensembl hg19 (Hinxton)ENSG00000185504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185504 [Gene_View]  ENSG00000185504 [Sequence]  chr17:81539885-81552403 [Contig_View]  FAAP100 [Vega]
ICGC DataPortalENSG00000185504
TCGA cBioPortalFAAP100
AceView (NCBI)FAAP100
Genatlas (Paris)FAAP100
WikiGenes80233
SOURCE (Princeton)FAAP100
Genetics Home Reference (NIH)FAAP100
Genomic and cartography
GoldenPath hg38 (UCSC)FAAP100  -     chr17:81539885-81552403 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAAP100  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblFAAP100 - 17q25.3 [CytoView hg19]  FAAP100 - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIFAAP100 [Mapview hg19]  FAAP100 [Mapview hg38]
OMIM611301   
Gene and transcription
Genbank (Entrez)AK024644 AK025828 AK054713 AK225370 AL834374
RefSeq transcript (Entrez)NM_025161
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAAP100
Cluster EST : UnigeneHs.313905 [ NCBI ]
CGAP (NCI)Hs.313905
Alternative Splicing GalleryENSG00000185504
Gene ExpressionFAAP100 [ NCBI-GEO ]   FAAP100 [ EBI - ARRAY_EXPRESS ]   FAAP100 [ SEEK ]   FAAP100 [ MEM ]
Gene Expression Viewer (FireBrowse)FAAP100 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80233
GTEX Portal (Tissue expression)FAAP100
Human Protein AtlasENSG00000185504-FAAP100 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ0VG06   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ0VG06  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ0VG06
Splice isoforms : SwissVarQ0VG06
PhosPhoSitePlusQ0VG06
Domains : Interpro (EBI)Faap100   
Domain families : Pfam (Sanger)FANCAA (PF15146)   
Domain families : Pfam (NCBI)pfam15146   
Conserved Domain (NCBI)FAAP100
DMDM Disease mutations80233
Blocks (Seattle)FAAP100
SuperfamilyQ0VG06
Human Protein Atlas [tissue]ENSG00000185504-FAAP100 [tissue]
Peptide AtlasQ0VG06
HPRD07982
IPIIPI00783034   IPI00477994   IPI00869161   IPI00953334   IPI01013756   IPI00902698   IPI01011417   IPI01009313   
Protein Interaction databases
DIP (DOE-UCLA)Q0VG06
IntAct (EBI)Q0VG06
FunCoupENSG00000185504
BioGRIDFAAP100
STRING (EMBL)FAAP100
ZODIACFAAP100
Ontologies - Pathways
QuickGOQ0VG06
Ontology : AmiGODNA binding  protein binding  nucleoplasm  nucleoplasm  cytosol  interstrand cross-link repair  Fanconi anaemia nuclear complex  intermediate filament cytoskeleton  
Ontology : EGO-EBIDNA binding  protein binding  nucleoplasm  nucleoplasm  cytosol  interstrand cross-link repair  Fanconi anaemia nuclear complex  intermediate filament cytoskeleton  
NDEx NetworkFAAP100
Atlas of Cancer Signalling NetworkFAAP100
Wikipedia pathwaysFAAP100
Orthology - Evolution
OrthoDB80233
GeneTree (enSembl)ENSG00000185504
Phylogenetic Trees/Animal Genes : TreeFamFAAP100
HOVERGENQ0VG06
HOGENOMQ0VG06
Homologs : HomoloGeneFAAP100
Homology/Alignments : Family Browser (UCSC)FAAP100
Gene fusions - Rearrangements
Fusion : MitelmanFAAP100/NPLOC4 [17q25.3/17q25.3]  
Fusion : QuiverFAAP100
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAAP100 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAAP100
dbVarFAAP100
ClinVarFAAP100
1000_GenomesFAAP100 
Exome Variant ServerFAAP100
ExAC (Exome Aggregation Consortium)ENSG00000185504
GNOMAD BrowserENSG00000185504
Genetic variants : HAPMAP80233
Genomic Variants (DGV)FAAP100 [DGVbeta]
DECIPHERFAAP100 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAAP100 
Mutations
ICGC Data PortalFAAP100 
TCGA Data PortalFAAP100 
Broad Tumor PortalFAAP100
OASIS PortalFAAP100 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDFAAP100
BioMutasearch FAAP100
DgiDB (Drug Gene Interaction Database)FAAP100
DoCM (Curated mutations)FAAP100 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAAP100 (select a term)
intoGenFAAP100
Cancer3DFAAP100(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611301   
Orphanet
DisGeNETFAAP100
MedgenFAAP100
Genetic Testing Registry FAAP100
NextProtQ0VG06 [Medical]
TSGene80233
GENETestsFAAP100
Target ValidationFAAP100
Huge Navigator FAAP100 [HugePedia]
snp3D : Map Gene to Disease80233
BioCentury BCIQFAAP100
ClinGenFAAP100
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80233
Chemical/Pharm GKB GenePA142672253
Clinical trialFAAP100
Miscellaneous
canSAR (ICR)FAAP100 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAAP100
EVEXFAAP100
GoPubMedFAAP100
iHOPFAAP100
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jun 22 16:24:54 CEST 2018
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