mutLBSgeneDB |
Gene summary for CFI |
Gene summary |
Basic gene Info. | Gene symbol | CFI |
Gene name | complement factor I | |
Synonyms | AHUS3|ARMD13|C3BINA|C3b-INA|FI|IF|KAF | |
Cytomap | UCSC genome browser: 4q25 | |
Type of gene | protein-coding | |
RefGenes | NM_000204.3, | |
Description | C3B/C4B inactivatorC3b-inactivatorKonglutinogen-activating factorcomplement component Icomplement control protein factor Icomplement factor I heavy chainlight chain of factor I | |
Modification date | 20141221 | |
dbXrefs | MIM : 217030 | |
HGNC : HGNC | ||
Ensembl : ENSG00000205403 | ||
HPRD : 01955 | ||
Vega : OTTHUMG00000161109 | ||
Protein | UniProt: P05156 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CFI | |
BioGPS: 3426 | ||
Pathway | NCI Pathway Interaction Database: CFI | |
KEGG: CFI | ||
REACTOME: CFI | ||
Pathway Commons: CFI | ||
Context | iHOP: CFI | |
ligand binding site mutation search in PubMed: CFI | ||
UCL Cancer Institute: CFI | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
Top |
Ligand binding site mutations for CFI |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D289 | E288K | SKCM | 1 | K239 | M238I | SKCM | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
Top |
Protein structure related information for CFI |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | D289 | E288K | -1.351377 | K239 | M238I | -1.0499085 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for CFI from PDB |
Top |
Differential gene expression and gene-gene network for CFI |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
Top |
Top |
Phenotype information for CFI |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0242383 | Macular Degeneration | 11 | Biomarker, GeneticVariation |
umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 8 | Biomarker, GeneticVariation |
umls:C3463916 | Complement Factor I Deficiency | 1 | Biomarker, GeneticVariation |
umls:C0001733 | Afibrinogenemia | 1 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
Top |
Pharmacological information for CFI |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of CFI go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
Top |
Conservation information for LBS of CFI |
Multiple alignments for P05156 in multiple species |
LBS | AA sequence | # species | Species | D242 | QMKACDGINDC | 1 | Homo sapiens | D242 | QEKACNGVNDC | 1 | Mus musculus | D242 | QEKACDGVNDC | 1 | Rattus norvegicus | D246 | CDGINDCGDQS | 1 | Homo sapiens | D246 | CNGVNDCGDQS | 1 | Mus musculus | D246 | CDGVNDCGDQS | 1 | Rattus norvegicus | D252 | CGDQSDELCCK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D283 | CNGEVDCITGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D289 | CITGEDEVGCA | 1 | Homo sapiens | D289 | CITGEDESRCE | 1 | Mus musculus | D289 | CITGEDESGCE | 1 | Rattus norvegicus | E253 | GDQSDELCCKG | 2 | Mus musculus, Rattus norvegicus | E253 | GDQSDELCCKA | 1 | Homo sapiens | E281 | YQCNGEVDCIT | 1 | Homo sapiens | E281 | YKCNGEVDCIT | 1 | Mus musculus | E281 | RKCNGEVDCIT | 1 | Rattus norvegicus | E290 | ITGEDEVGCA- | 1 | Homo sapiens | E290 | ITGEDESRCEE | 1 | Mus musculus | E290 | ITGEDESGCEE | 1 | Rattus norvegicus | I244 | KACDGINDCGD | 1 | Homo sapiens | I244 | KACNGVNDCGD | 1 | Mus musculus | I244 | KACDGVNDCGD | 1 | Rattus norvegicus | K239 | YISQMKACDGI | 1 | Homo sapiens | K239 | HIPQEKACNGV | 1 | Mus musculus | K239 | RIPQEKACDGV | 1 | Rattus norvegicus | N279 | SQYQCNGEVDC | 1 | Homo sapiens | N279 | DQYKCNGEVDC | 1 | Mus musculus | N279 | NQRKCNGEVDC | 1 | Rattus norvegicus | Y276 | CIPSQYQCNGE | 1 | Homo sapiens | Y276 | CIPDQYKCNGE | 1 | Mus musculus | Y276 | CIPNQRKCNGE | 1 | Rattus norvegicus |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |