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mutLBSgeneDB |
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| Gene summary for CFTR |
 Gene summary |
| Basic gene Info. | Gene symbol | CFTR |
| Gene name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | |
| Synonyms | ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 | |
| Cytomap | UCSC genome browser: 7q31.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000492.3, | |
| Description | cAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulator | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 602421 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000001626 | ||
| HPRD : 03883 | ||
| Vega : OTTHUMG00000023076 | ||
| Protein | UniProt: P13569 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CFTR | |
| BioGPS: 1080 | ||
| Pathway | NCI Pathway Interaction Database: CFTR | |
| KEGG: CFTR | ||
| REACTOME: CFTR | ||
| Pathway Commons: CFTR | ||
| Context | iHOP: CFTR | |
| ligand binding site mutation search in PubMed: CFTR | ||
| UCL Cancer Institute: CFTR | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:1902476 | chloride transmembrane transport | 18570918 | GO:1902943 | positive regulation of voltage-gated chloride channel activity | 22006324 |
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| Ligand binding site mutations for CFTR |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T1252 | L1253S | BRCA | 1 | Q552 | R553P | BRCA | 1 | D651 | D651N | COAD | 1 | Q552 | A554E | COAD | 1 | F533 | E535D | COAD | 1 | F533 | A534V | COAD | 1 | Y577 | G576R | SKCM | 1 | Q493 | S492F | SKCM | 1 | Q493 | S495F | SKCM | 1 | K1302 | L1304V | 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 CFTR |
| 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 | F533 | E535D | -1.4180615 | T1252 | L1253S | -1.2895458 | K1302 | L1304V | -1.2460787 | D651 | D651N | -1.0977287 | Y577 | G576R | -0.71246899 | F533 | A534V | -0.56225323 | Q552 | R553P | -0.42616088 | Q493 | S492F | -0.33155183 | Q493 | S495F | -0.30886229 | Q552 | A554E | -0.10068217 |
| (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 CFTR from PDB |
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| Differential gene expression and gene-gene network for CFTR |
| 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 CFTR |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0010674 | Cystic Fibrosis | 1074 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0403814 | Congenital bilateral aplasia of vas deferens | 89 | Biomarker, GeneticVariation |
| umls:C0149521 | Pancreatitis, Chronic | 60 | Biomarker, GeneticVariation |
| umls:C0030305 | Pancreatitis | 59 | Biomarker, GeneticVariation |
| umls:C0021364 | Infertility, Male | 40 | Biomarker, GeneticVariation |
| umls:C0004509 | Azoospermia | 32 | Biomarker, GeneticVariation |
| umls:C0037199 | Sinusitis | 7 | Biomarker, GeneticVariation |
| umls:C0238339 | Hereditary pancreatitis | 4 | Biomarker, GeneticVariation |
| umls:C0035455 | Rhinitis | 4 | Biomarker, GeneticVariation |
| umls:C0009404 | Colorectal Neoplasms | 1 | Biomarker |
| umls:C0019284 | Hernia, Diaphragmatic | 1 | Therapeutic |
| umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 22194 | S492F | Pathogenic | Germline | GeneReviews:NBK1250 MedGen:C0010674 OMIM:219700 Orphanet:ORPHA586 SNOMED CT:190905008 |
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| Pharmacological information for CFTR |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00887 | Bumetanide | Small molecule |  |
| Approved | DB01016 | Glyburide | Small molecule |  |
| Approved | DB01050 | Ibuprofen | Small molecule |  |
| Experimental | DB04395 | Phosphoaminophosphonic Acid-Adenylate Ester | Small molecule |  |
| Experimental | DB04522 | Phosphonoserine | Small molecule |  |
| Approved | DB04941 | Crofelemer | Small molecule |  |
| Approved | DB08820 | Ivacaftor | Small molecule |  |
| Investigational | DB09280 | Lumacaftor | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CFTR go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ATP | ATP | 1xmi | E | D651 | ATP | ATP | 2pzf | B | F533 Q552 | B44 | N-(2-PHENYLETHYL)ADENOSINE 5'-(TETRAHYDROGENTRIPHOSPHATE) | 3gd7 | D | K1302 | MG | MAGNESIUM(2+) | 1xmi | A | Q493 | ATP | ATP | 1xmi | A | Q493 | MG | MAGNESIUM(2+) | 1xmi | B | Q493 | ATP | ATP | 1xmi | B | Q493 | MG | MAGNESIUM(2+) | 1xmi | C | Q493 | ATP | ATP | 1xmi | C | Q493 | MG | MAGNESIUM(2+) | 1xmi | D | Q493 | ATP | ATP | 1xmi | D | Q493 | MG | MAGNESIUM(2+) | 1xmi | E | Q493 | ATP | ATP | 1xmi | E | Q493 | MG | MAGNESIUM(2+) | 1xmj | A | Q493 | ATP | ATP | 1xmj | A | Q493 | MG | MAGNESIUM(2+) | 2bbs | A | Q493 | ATP | ATP | 2bbs | A | Q493 | MG | MAGNESIUM(2+) | 2bbs | B | Q493 | ATP | ATP | 2bbs | B | Q493 | MG | MAGNESIUM(2+) | 2bbt | A | Q493 | ATP | ATP | 2bbt | A | Q493 | MG | MAGNESIUM(2+) | 2bbt | B | Q493 | ATP | ATP | 2bbt | B | Q493 | MG | MAGNESIUM(2+) | 2pze | A | Q493 | ATP | ATP | 2pze | A | Q493 | MG | MAGNESIUM(2+) | 2pze | B | Q493 | ATP | ATP | 2pze | B | Q493 | MG | MAGNESIUM(2+) | 2pzf | A | Q493 | ATP | ATP | 2pzf | A | Q493 | MG | MAGNESIUM(2+) | 2pzf | B | Q493 | ATP | ATP | 2pzf | B | Q493 | MG | MAGNESIUM(2+) | 2pzg | A | Q493 | ATP | ATP | 2pzg | A | Q493 | MG | MAGNESIUM(2+) | 2pzg | B | Q493 | ATP | ATP | 2pzg | B | Q493 | ATP | ATP | 4wz6 | A | Q493 | MG | MAGNESIUM(2+) | 4wz6 | A | Q493 | MG | MAGNESIUM(2+) | 2bbo | A | Q493 Y577 | ATP | ATP | 2bbo | A | Q493 Y577 | ATP | ATP | 2pzf | A | Q552 | B44 | N-(2-PHENYLETHYL)ADENOSINE 5'-(TETRAHYDROGENTRIPHOSPHATE) | 3gd7 | C | T1252 | B44 | N-(2-PHENYLETHYL)ADENOSINE 5'-(TETRAHYDROGENTRIPHOSPHATE) | 3gd7 | D | T1252 |
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| Conservation information for LBS of CFTR |
| Multiple alignments for P13569 in multiple species |
| LBS | AA sequence | # species | Species | A462 | AGSTGAGKTSL | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | A462 | TGSTGSGKTSL | 1 | Mus musculus | A462 | TGSTGAGKTSL | 1 | Rattus norvegicus | D572 | DLYLLDSPFGY | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | D651 | GCDSFDQFSAE | 2 | Homo sapiens, Pan troglodytes | D651 | GYDTFDQFTEE | 2 | Mus musculus, Rattus norvegicus | D651 | GYDSFDQFSPE | 1 | Canis lupus familiaris | D651 | GCDTFDQFTAE | 1 | Bos taurus | D651 | GYDSFDQFSAE | 1 | Macaca mulatta | F1294 | IPQKVFIFSGT | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | F1294 | ITQKVFIFSGT | 2 | Mus musculus, Rattus norvegicus | F1296 | QKVFIFSGTFR | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | F533 | EDISKFAEKDN | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | F533 | QDITKFAEQDN | 1 | Mus musculus | F533 | EDITKFAEQDN | 1 | Rattus norvegicus | F650 | MGCDSFDQFSA | 2 | Homo sapiens, Pan troglodytes | F650 | MGYDTFDQFTE | 2 | Mus musculus, Rattus norvegicus | F650 | MGYDSFDQFSP | 1 | Canis lupus familiaris | F650 | MGCDTFDQFTA | 1 | Bos taurus | F650 | MGYDSFDQFSA | 1 | Macaca mulatta | G1247 | LLGRTGSGKST | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | G1249 | GRTGSGKSTLL | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | G461 | VAGSTGAGKTS | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | G461 | ITGSTGSGKTS | 1 | Mus musculus | G461 | ITGSTGAGKTS | 1 | Rattus norvegicus | G463 | GSTGAGKTSLL | 6 | Homo sapiens, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | G463 | GSTGSGKTSLL | 1 | Mus musculus | G550 | GITLSGGQRAR | 4 | Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta | G550 | GVTLSGGQRAR | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | G551 | ITLSGGQRARI | 4 | Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta | G551 | VTLSGGQRARI | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | I1226 | EGGNAILENIS | 2 | Homo sapiens, Pan troglodytes | I1226 | DGGNAILENIS | 2 | Canis lupus familiaris, Bos taurus | I1226 | DDGNAVLENIS | 1 | Mus musculus | I1226 | DDGNAILENIS | 1 | Rattus norvegicus | I1226 | EGGNPILENIS | 1 | Macaca mulatta | K1250 | RTGSGKSTLLS | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta | K1250 | RTGSGKSTLLL | 1 | Bos taurus | K1302 | SGTFRKNLDPY | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | K1302 | SGTFRQNLDPN | 2 | Mus musculus, Rattus norvegicus | K464 | STGAGKTSLLM | 6 | Homo sapiens, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | K464 | STGSGKTSLLM | 1 | Mus musculus | Q493 | ISFCSQFSWIM | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Macaca mulatta | Q493 | VSFCSQFSWIM | 1 | Mus musculus | Q493 | VSFSSQISWIM | 1 | Rattus norvegicus | Q493 | ISFCSQYSWIM | 1 | Bos taurus | Q552 | TLSGGQRARIS | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | S1248 | LGRTGSGKSTL | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | S1251 | TGSGKSTLLSA | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta | S1251 | TGSGKSTLLLA | 1 | Bos taurus | S1255 | KSTLLSAFLRL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | S1255 | KSTLLSAFLRM | 2 | Mus musculus, Rattus norvegicus | S1255 | KSTLLSALLRL | 1 | Canis lupus familiaris | S1255 | KSTLLLAFLRL | 1 | Bos taurus | S1297 | KVFIFSGTFRK | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | S1297 | KVFIFSGTFRQ | 2 | Mus musculus, Rattus norvegicus | S549 | GGITLSGGQRA | 4 | Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta | S549 | GGVTLSGGQRA | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | S573 | LYLLDSPFGYL | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | T1246 | GLLGRTGSGKS | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | T1252 | GSGKSTLLSAF | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Macaca mulatta | T1252 | GSGKSTLLSAL | 1 | Canis lupus familiaris | T1252 | GSGKSTLLLAF | 1 | Bos taurus | T460 | AVAGSTGAGKT | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | T460 | AITGSTGSGKT | 1 | Mus musculus | T460 | AITGSTGAGKT | 1 | Rattus norvegicus | T465 | TGAGKTSLLMM | 4 | Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | T465 | TGAGKTSLLMV | 1 | Homo sapiens | T465 | TGSGKTSLLML | 1 | Mus musculus | T465 | TGAGKTSLLML | 1 | Rattus norvegicus | T547 | GEGGITLSGGQ | 4 | Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta | T547 | GEGGVTLSGGQ | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | V440 | LLGTPVLKDIN | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Macaca mulatta | V440 | LVGNPVLKNIN | 2 | Mus musculus, Rattus norvegicus | V440 | LLGTPVLKDIS | 1 | Bos taurus | W401 | NVTAFWEEGFG | 5 | Homo sapiens, Mus musculus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta | W401 | NVTAFWEEGFQ | 1 | Rattus norvegicus | W401 | NVTAFWEEGFS | 1 | Bos taurus | Y1219 | DLTAKYTEGGN | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | Y1219 | DLTVKYMDDGN | 1 | Mus musculus | Y1219 | DLTVKYVDDGN | 1 | Rattus norvegicus | Y1219 | DLTAKYIDGGN | 1 | Canis lupus familiaris | Y1219 | DLTAKYTDGGN | 1 | Bos taurus | Y577 | DSPFGYLDVLT | 6 | Homo sapiens, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Pan troglodytes, Macaca mulatta | Y577 | DSPFGYLDVFT | 1 | Mus musculus |
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