FANCI


Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
FA complementation group IMIM:611360Ensembl:ENSG00000140525HGNC:HGNC:25568PA16238792815q26.1

GO terms in FANCI


Term TypeEvidence TypeGO Term IDGO Des.
MFIEAGO:0003677DNA binding
MFIPIGO:0005515protein binding
MFIBAGO:0070182DNA polymerase binding
MFIPIGO:0070182DNA polymerase binding
BPIDAGO:0031398positive regulation of protein ubiquitination
BPTASGO:0036297interstrand cross-link repair
CCIDAGO:0005654nucleoplasm
CCTASGO:0005654nucleoplasm
CCIDAGO:0005829cytosol
CCHDAGO:0016020membrane

Gene expression in normal tissue: FANCI

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in FANCI


DatabasePathway IDPathway Des.
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-3700989Transcriptional Regulation by TP53
reactomeR-HSA-6783310Fanconi Anemia Pathway
reactomeR-HSA-6796648TP53 Regulates Transcription of DNA Repair Genes
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73894DNA Repair
reactomeR-HSA-74160Gene expression (Transcription)
wikipathwaysWP2363Gastric Cancer Network 2
wikipathwaysWP3808TP53 Regulates Transcription of DNA Repair Genes
pidfanconi_pathwayFanconi anemia pathway
kegghsa03460Fanconi anemia pathway - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD64Parbendazole3
iGMDRD886Compound 1541A2
iGMDRD505Pevonedistat3
iGMDRD874BRD89581
iGMDRD887Compound 23 citrate3
iGMDRD871BRD63683
iGMDRD286Nsc 6328391
iGMDRD782DC-45-A25
iGMDRD77Itraconazole3
iGMDRD318PAC-16
iGMDRD415LE-1353
iGMDRD121GMX17783
iGMDRD5Tyrphostin AG 14781
iGMDRD260FQI-21
iGMDRD255SB2250023
iGMDRD613CHEMBL2581483
iGMDRD123Isoevodiamine3
iGMDRD154NSC237663
iGMDRD446LY 21832403
iGMDRD341Triacsin c3
iGMDRD193Fqi13
iGMDRD639YK 4-2793
iGMDRD779PRL-3 Inhibitor I3
iGMDRD299ICL 6701
iGMDRD424Tamatinib6
iGMDRD462OSI-906 (Linsitinib)1
iGMDRD433Lexibulin1
iGMDRD151CHM-11
iGMDRD84Lovastatin acid3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FANCI

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