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mutLBSgeneDB |
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| Gene summary for CFH |
 Gene summary |
| Basic gene Info. | Gene symbol | CFH |
| Gene name | complement factor H | |
| Synonyms | AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS | |
| Cytomap | UCSC genome browser: 1q32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000186.3, NM_001014975.2, | |
| Description | H factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1 | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 134370 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000000971 | ||
| HPRD : 00601 | ||
| Vega : OTTHUMG00000035607 | ||
| Protein | UniProt: P08603 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CFH | |
| BioGPS: 3075 | ||
| Pathway | NCI Pathway Interaction Database: CFH | |
| KEGG: CFH | ||
| REACTOME: CFH | ||
| Pathway Commons: CFH | ||
| Context | iHOP: CFH | |
| ligand binding site mutation search in PubMed: CFH | ||
| UCL Cancer Institute: CFH | ||
| 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 CFH |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W1183 | A1185D | COAD | 1 | H360 | E359K | LUAD | 1 | H360 | H360R | LUAD | 1 | Y393 | L394F | LUAD | 1 | W1183 | T1184I | STAD | 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 CFH |
| 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 | H360 | E359K | -1.1987458 | H360 | H360R | -1.1899814 | Y393 | L394F | -1.139056 | W1183 | A1185D | -0.72093434 | W1183 | T1184I | -0.45183978 |
| (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 CFH from PDB |
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| Differential gene expression and gene-gene network for CFH |
| 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 CFH |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0242383 | Macular Degeneration | 373 | Biomarker, GeneticVariation |
| umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 91 | Biomarker, GeneticVariation |
| umls:C0017662 | Glomerulonephritis, Membranoproliferative | 26 | Biomarker, GeneticVariation |
| umls:C0398777 | Complement Factor H Deficiency | 8 | Biomarker, GeneticVariation |
| umls:C0730295 | Basal Laminar Drusen | 4 | Biomarker, GeneticVariation |
| umls:C0025303 | Meningococcal Infections | 4 | Biomarker, GeneticVariation |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CFH |
| 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 CFH go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SCR | SUCROSE OCTASULFATE | 2uwn | A | H360 | SCR | SUCROSE OCTASULFATE | 2v8e | A | H360 Y393 | SIA | N-ACETYLNEURAMINIC ACID | 4ont | F | W1183 | SIA | N-ACETYLNEURAMINIC ACID | 4ont | D | W1183 | GAL | BETA-D-GALACTOSE | 4ont | D | W1183 | SIA | N-ACETYLNEURAMINIC ACID | 4ont | E | W1183 | GAL | BETA-D-GALACTOSE | 4ont | E | W1183 | SIA | N-ACETYLNEURAMINIC ACID | 4zh1 | D | W1183 | SIA | N-ACETYLNEURAMINIC ACID | 4zh1 | E | W1183 | SIA | N-ACETYLNEURAMINIC ACID | 4zh1 | F | W1183 |
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| Conservation information for LBS of CFH |
| Multiple alignments for P08603 in multiple species |
| LBS | AA sequence | # species | Species | E1195 | YSRTGESVEFV | 1 | Homo sapiens | E1195 | YSHSGEDIEFG | 1 | Mus musculus | E1195 | YSKTEDTIEFM | 1 | Bos taurus | E1198 | TGESVEFVCKR | 1 | Homo sapiens | E1198 | SGEDIEFGCKY | 1 | Mus musculus | E1198 | TEDTIEFMCQH | 1 | Bos taurus | F391 | LRKCYFPYLEN | 1 | Homo sapiens | F391 | VRKCVFHYVEN | 1 | Mus musculus | F391 | LRQCIFNYLEN | 1 | Bos taurus | H360 | YYCDEHFETPS | 1 | Homo sapiens | H360 | YKCDNGFSPPS | 1 | Mus musculus | H360 | YSCDHHFVPPS | 1 | Bos taurus | K1188 | WTAKQKLYSRT | 1 | Homo sapiens | K1188 | WRHTEKIYSHS | 1 | Mus musculus | K1188 | WKHDKKIYSKT | 1 | Bos taurus | L1181 | NYNIALRWTAK | 1 | Homo sapiens | L1181 | SHNIILKWRHT | 1 | Mus musculus | L1181 | KHHIQLRWKHD | 1 | Bos taurus | L1189 | TAKQKLYSRTG | 1 | Homo sapiens | L1189 | RHTEKIYSHSG | 1 | Mus musculus | L1189 | KHDKKIYSKTE | 1 | Bos taurus | P392 | RKCYFPYLENG | 1 | Homo sapiens | P392 | RKCVFHYVENG | 1 | Mus musculus | P392 | RQCIFNYLENG | 1 | Bos taurus | R1182 | YNIALRWTAKQ | 1 | Homo sapiens | R1182 | HNIILKWRHTE | 1 | Mus musculus | R1182 | HHIQLRWKHDK | 1 | Bos taurus | R1215 | RSHTLRTTCWD | 1 | Homo sapiens | R1215 | DSPPFRTKCIN | 1 | Mus musculus | R1215 | PKHTFRATCRE | 1 | Bos taurus | S1191 | KQKLYSRTGES | 1 | Homo sapiens | S1191 | TEKIYSHSGED | 1 | Mus musculus | S1191 | DKKIYSKTEDT | 1 | Bos taurus | S1196 | SRTGESVEFVC | 1 | Homo sapiens | S1196 | SHSGEDIEFGC | 1 | Mus musculus | S1196 | SKTEDTIEFMC | 1 | Bos taurus | V1197 | RTGESVEFVCK | 1 | Homo sapiens | V1197 | HSGEDIEFGCK | 1 | Mus musculus | V1197 | KTEDTIEFMCQ | 1 | Bos taurus | W1183 | NIALRWTAKQK | 1 | Homo sapiens | W1183 | NIILKWRHTEK | 1 | Mus musculus | W1183 | HIQLRWKHDKK | 1 | Bos taurus | Y1190 | AKQKLYSRTGE | 1 | Homo sapiens | Y1190 | HTEKIYSHSGE | 1 | Mus musculus | Y1190 | HDKKIYSKTED | 1 | Bos taurus | Y390 | CLRKCYFPYLE | 1 | Homo sapiens | Y390 | CVRKCVFHYVE | 1 | Mus musculus | Y390 | CLRQCIFNYLE | 1 | Bos taurus | Y393 | KCYFPYLENGY | 1 | Homo sapiens | Y393 | KCVFHYVENGD | 1 | Mus musculus | Y393 | QCIFNYLENGH | 1 | Bos taurus |
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