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Aliases for FAAP100 Gene

Aliases for FAAP100 Gene

  • Fanconi Anemia Core Complex Associated Protein 100 2 3 5
  • Fanconi Anemia-Associated Protein Of 100 KDa 3 4
  • Fanconi Anemia-Associated Protein, 100kDa 2 3
  • C17orf70 3 4
  • Fanconi Anemia Core Complex-Associated Protein 100 3
  • Fanconi Anemia Associated Protein 100 KDa Subunit 3
  • Fanconi Anemia Core Complex 100 KDa Subunit 3
  • Chromosome 17 Open Reading Frame 70 2

External Ids for FAAP100 Gene

Previous HGNC Symbols for FAAP100 Gene

  • C17orf70

Summaries for FAAP100 Gene

Entrez Gene Summary for FAAP100 Gene

  • FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

GeneCards Summary for FAAP100 Gene

FAAP100 (Fanconi Anemia Core Complex Associated Protein 100) is a Protein Coding gene. Diseases associated with FAAP100 include Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot for FAAP100 Gene

  • Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.

Additional gene information for FAAP100 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAAP100 Gene

Genomics for FAAP100 Gene

GeneHancer (GH) Regulatory Elements for FAAP100 Gene

Promoters and enhancers for FAAP100 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I081551 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 1044 3.7 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 CBX5 ZNF143 FOS KLF13 FAAP100 GC17P081552 FOXK2 CHMP6 ARL16 HGS TSPAN10 FSCN2 ENSG00000262877
GH17I081700 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 34.1 -148.8 -148829 4.2 HDGF CLOCK MLX ARID4B SIN3A DMAP1 ZBTB7B IRF4 YY1 POLR2B ENSG00000262049 ENSG00000262660 MRPL12 ARL16 ENSG00000260563 FAAP100 NARF-IT1 ENSG00000262652 ARL2BPP9 RFNG
GH17I081384 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.1 +157.9 157857 22.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF263 BAHCC1 ENSG00000279692 ENSG00000262877 CEP131 GPS1 HGS ENSG00000260011 FAAP100 ENSG00000260369 ENSG00000265678
GH17I081864 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.1 -315.0 -314982 8.9 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ARHGDIA ENSG00000262413 TBCD ENSG00000260563 FAAP100 NARF-IT1 TEPSIN ENSG00000262652 CSNK1D ENSG00000265678
GH17I081336 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 33.4 +212.0 212018 10.8 PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 GC17P081340 GC17M081340 FAAP100 RFNG TMEM105 DUS1L HGS ENSG00000265678 LINC00482 TEPSIN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAAP100 on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAAP100 Gene

Genomic Locations for FAAP100 Gene
chr17:81,539,885-81,553,961
(GRCh38/hg38)
Size:
14,077 bases
Orientation:
Minus strand
chr17:79,506,911-79,520,987
(GRCh37/hg19)

Genomic View for FAAP100 Gene

Genes around FAAP100 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAAP100 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAAP100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAAP100 Gene

Proteins for FAAP100 Gene

  • Protein details for FAAP100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VG06-FP100_HUMAN
    Recommended name:
    Fanconi anemia core complex-associated protein 100
    Protein Accession:
    Q0VG06
    Secondary Accessions:
    • A6NNM1
    • Q8N3F7
    • Q9BV13
    • Q9H6K7
    • Q9H7E8

    Protein attributes for FAAP100 Gene

    Size:
    881 amino acids
    Molecular mass:
    93433 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL.
    SequenceCaution:
    • Sequence=AAH21968.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15251.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD39037.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAAP100 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAAP100 Gene

Post-translational modifications for FAAP100 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FAAP100 Gene

Domains & Families for FAAP100 Gene

Gene Families for FAAP100 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAAP100 Gene

Suggested Antigen Peptide Sequences for FAAP100 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FAAP100: view

No data available for UniProtKB/Swiss-Prot for FAAP100 Gene

Function for FAAP100 Gene

Molecular function for FAAP100 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.

Phenotypes From GWAS Catalog for FAAP100 Gene

Gene Ontology (GO) - Molecular Function for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17396147
genes like me logo Genes that share ontologies with FAAP100: view
genes like me logo Genes that share phenotypes with FAAP100: view

Animal Model Products

miRNA for FAAP100 Gene

miRTarBase miRNAs that target FAAP100

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAAP100 Gene

Localization for FAAP100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAAP100 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAAP100 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Intermediate filaments (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005829 cytosol IDA --
GO:0043240 Fanconi anaemia nuclear complex IEA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with FAAP100: view

Pathways & Interactions for FAAP100 Gene

genes like me logo Genes that share pathways with FAAP100: view

Pathways by source for FAAP100 Gene

2 Reactome pathways for FAAP100 Gene
1 KEGG pathway for FAAP100 Gene

Gene Ontology (GO) - Biological Process for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair TAS --
genes like me logo Genes that share ontologies with FAAP100: view

No data available for SIGNOR curated interactions for FAAP100 Gene

Drugs & Compounds for FAAP100 Gene

No Compound Related Data Available

Transcripts for FAAP100 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAAP100 Gene

No ASD Table

Relevant External Links for FAAP100 Gene

GeneLoc Exon Structure for
FAAP100
ECgene alternative splicing isoforms for
FAAP100

Expression for FAAP100 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of FAAP100 Gene:

FAAP100

Evidence on tissue expression from TISSUES for FAAP100 Gene

  • Nervous system(4.7)
  • Liver(4.1)
  • Blood(4)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with FAAP100: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAAP100 Gene

Orthologs for FAAP100 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAAP100 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17ORF70 34
  • 100 (a)
OneToOne
C17H17orf70 33
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia C19H17orf70 33
  • 79.96 (n)
C17orf70 34
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf70 33
  • 79.07 (n)
C17orf70 34
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310003H01Rik 33 34
  • 78.21 (n)
Faap100 16
rat
(Rattus norvegicus)
Mammalia RGD1306926 33
  • 77.94 (n)
oppossum
(Monodelphis domestica)
Mammalia C17orf70 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C18H17orf70 33 34
  • 66.16 (n)
lizard
(Anolis carolinensis)
Reptilia C17orf70 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488904 33
  • 46.37 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-57h18.1 33
  • 45.29 (n)
C12H17orf70 34
  • 31 (a)
OneToOne
Species where no ortholog for FAAP100 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAAP100 Gene

ENSEMBL:
Gene Tree for FAAP100 (if available)
TreeFam:
Gene Tree for FAAP100 (if available)

Paralogs for FAAP100 Gene

(1) SIMAP similar genes for FAAP100 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAAP100: view

No data available for Paralogs for FAAP100 Gene

Variants for FAAP100 Gene

Sequence variations from dbSNP and Humsavar for FAAP100 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000196594 -- 81,541,601(-) C/A intron_variant
rs1000423652 -- 81,545,648(-) CCCCC/CCCCCCC intron_variant
rs1000929161 -- 81,540,029(-) C/G/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1001020692 -- 81,548,346(-) G/T intron_variant
rs1001026999 -- 81,544,661(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAAP100 Gene

Variant ID Type Subtype PubMed ID
nsv952389 CNV deletion 24416366
nsv833568 CNV loss 17160897
nsv833567 CNV loss 17160897
nsv828128 CNV loss 20364138
nsv576182 CNV loss 21841781
nsv470620 CNV loss 18288195
nsv428351 CNV gain 18775914
nsv2164 CNV insertion 18451855
esv26223 CNV gain+loss 19812545

Variation tolerance for FAAP100 Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAAP100 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAAP100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAAP100 Gene

Disorders for FAAP100 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAAP100 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAAP100

genes like me logo Genes that share disorders with FAAP100: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAAP100 Gene

Publications for FAAP100 Gene

  1. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. (PMID: 17396147) Ling C … Wang W (The EMBO journal 2007) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Forkhead transcription factor FoxF1 interacts with Fanconi anemia protein complexes to promote DNA damage response. (PMID: 26625197) Pradhan A … Kalinichenko VV (Oncotarget 2016) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for FAAP100 Gene

Sources for FAAP100 Gene

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