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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 Congenital Hypoplastic Anemia and 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.

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

Genomics for FAAP100 Gene

Regulatory Elements for FAAP100 Gene

Enhancers for FAAP100 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F081574 1.1 Ensembl ENCODE 13.1 -22.7 -22740 4.1 ELF3 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZBTB40 DNMT3B ZNF2 RAD21 ARL16 TSPAN10 NPLOC4 FAAP100 OXLD1 ENSG00000207021 GC17M081598 PIR48383
GH17F081596 1.1 Ensembl ENCODE 12.6 -45.5 -45499 5.4 HDGF CTCF SIN3A RAD21 ZNF316 POLR2A EED ZNF143 SMC3 ETV6 TSPAN10 NPLOC4 ARL16 FAAP100 PDE6G CCDC137 OXLD1 TMEM105 OGFOD3 GC17M081598
GH17F081555 1.1 Ensembl ENCODE 6.2 -2.9 -2912 2.4 ZNF792 ARID4B NR3C1 ZNF121 JUND POLR2A MBD1 GLIS1 ZNF600 SUPT5H FSCN2 NPLOC4 FAAP100 GC17M081558 PIR48679
GH17F081336 0.8 FANTOM5 ENCODE 5.5 +212.0 212018 10.8 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TMEM105 ENSG00000262049 RFNG LINC00482 CEP131 TSPAN10 SLC38A10 HGS ENSG00000265678 ARL16
GH17F081470 1.5 FANTOM5 Ensembl ENCODE 1.7 +82.2 82154 2.0 YBX3 HDAC1 ATF1 PKNOX1 CBX3 CREB3L1 RAD21 YY1 SCRT2 FOS ENSG00000262049 ARL16 NPLOC4 HGS FSCN2 ACTG1 MCRIP1 PCYT2 OXLD1 FAAP100
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FAAP100 on UCSC Golden Path with GeneCards custom track

Promoters for FAAP100 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001538674 1461 2201 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ETS1 GLIS2 KLF7 FOS ZNF263

Genomic Location for FAAP100 Gene

Chromosome:
17
Start:
81,539,885 bp from pter
End:
81,553,961 bp from pter
Size:
14,077 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAAP100 Gene

Domains & Families for FAAP100 Gene

Protein Domains for FAAP100 Gene

InterPro:
ProtoNet:

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 Gene Families and 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.

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

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm 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

No data available for Subcellular locations from COMPARTMENTS for FAAP100 Gene

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

Transcripts for FAAP100 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
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 and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (a)
OneToOne
C17H17orf70 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia C19H17orf70 34
  • 79.96 (n)
C17orf70 35
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf70 34
  • 79.07 (n)
C17orf70 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310003H01Rik 34 35
  • 78.21 (n)
Faap100 16
rat
(Rattus norvegicus)
Mammalia RGD1306926 34
  • 77.94 (n)
oppossum
(Monodelphis domestica)
Mammalia C17orf70 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C18H17orf70 34 35
  • 66.16 (n)
lizard
(Anolis carolinensis)
Reptilia C17orf70 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488904 34
  • 46.37 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-57h18.1 34
  • 45.29 (n)
C12H17orf70 35
  • 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 Sequence Context AA Info Type
rs10451312 -- 81,549,190(+) GGTCC(A/C/G)AGCTG intron-variant
rs10451313 -- 81,549,622(+) AAGCC(A/C)TTCTC intron-variant
rs10871498 -- 81,544,636(+) CTGAG(A/C)TGGAC intron-variant
rs111228182 -- 81,541,202(+) AGCCC(A/G)TGCGC intron-variant
rs111303369 -- 81,549,164(+) AAGGA(C/T)GGCAG intron-variant

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

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

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
congenital hypoplastic anemia
  • congenital aplastic anemia
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAAP100

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (EMBO J. 2007) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for FAAP100 Gene

Sources for FAAP100 Gene

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