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mutLBSgeneDB |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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| 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) |
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| 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 |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| 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 |
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| 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 |
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