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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:611360 Ensembl IDEnsembl:ENSG00000140525 HGNC IDHGNC:HGNC:25568 PHARMGKB IDPA162387928 Map Location15q26.1 | |||||
GO terms in FANCI
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003677 | DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0070182 | DNA polymerase binding |
| MF | IPI | GO:0070182 | DNA polymerase binding |
| BP | IDA | GO:0031398 | positive regulation of protein ubiquitination |
| BP | TAS | GO:0036297 | interstrand cross-link repair |
Gene expression in normal tissue: FANCI
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FANCI
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-6783310 | Fanconi Anemia Pathway |
| reactome | R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FANCI
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.