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mutLBSgeneDB |
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| Gene summary for COL4A3BP |
 Gene summary |
| Basic gene Info. | Gene symbol | COL4A3BP |
| Gene name | collagen, type IV, alpha 3 (Goodpasture antigen) binding protein | |
| Synonyms | CERT|CERTL|GPBP|STARD11 | |
| Cytomap | UCSC genome browser: 5q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001130105.1, NM_005713.2,NM_031361.2, | |
| Description | StAR-related lipid transfer (START) domain containing 11ceramide transfer proteinceramide transportercollagen type IV alpha-3-binding proteinhCERTlipid-transfer protein CERTL | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604677 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000113163 | ||
| HPRD : 05246 | ||
| Vega : OTTHUMG00000102068 | ||
| Protein | UniProt: Q9Y5P4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_COL4A3BP | |
| BioGPS: 10087 | ||
| Pathway | NCI Pathway Interaction Database: COL4A3BP | |
| KEGG: COL4A3BP | ||
| REACTOME: COL4A3BP | ||
| Pathway Commons: COL4A3BP | ||
| Context | iHOP: COL4A3BP | |
| ligand binding site mutation search in PubMed: COL4A3BP | ||
| UCL Cancer Institute: COL4A3BP | ||
| 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 COL4A3BP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E601 | E601Q | BLCA | 1 | Y579 | Y579N | LUSC | 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 COL4A3BP |
| 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 | Y579 | Y579N | -1.3732268 | E601 | E601Q | -1.0594109 |
| (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 COL4A3BP from PDB |
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| Differential gene expression and gene-gene network for COL4A3BP |
| 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 COL4A3BP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for COL4A3BP |
| 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 COL4A3BP 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 COL4A3BP |
| Multiple alignments for Q9Y5P4 in multiple species |
| LBS | AA sequence | # species | Species | A501 | KRVWPASQRDV | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | A547 | NRCVRAKINVA | 2 | Homo sapiens, Bos taurus | A547 | NRCVRAKINIA | 2 | Xenopus tropicalis, Mus musculus | A589 | NPGGWAPASVL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | A598 | VLRAVAKREYP | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | E472 | VRNDWETTIEN | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | E601 | AVAKREYPKFL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | F462 | EVCNYFWNVDV | 3 | Homo sapiens, Mus musculus, Bos taurus | F462 | EVCQHFWNVDV | 1 | Xenopus tropicalis | F605 | REYPKFLKRFT | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | H495 | IIYQTHKRVWP | 2 | Homo sapiens, Bos taurus | H495 | IVYQTHKRVWP | 2 | Xenopus tropicalis, Mus musculus | I475 | DWETTIENFHV | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | I549 | CVRAKINVAMI | 2 | Homo sapiens, Bos taurus | I549 | CVRAKINIAMI | 2 | Xenopus tropicalis, Mus musculus | K496 | IYQTHKRVWPA | 2 | Homo sapiens, Bos taurus | K496 | VYQTHKRVWPA | 2 | Xenopus tropicalis, Mus musculus | L594 | APASVLRAVAK | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | N530 | TWIVCNFSVDH | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | P585 | VANVNPGGWAP | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | Q493 | AIIIYQTHKRV | 2 | Homo sapiens, Bos taurus | Q493 | AIIVYQTHKRV | 2 | Xenopus tropicalis, Mus musculus | R468 | WNVDVRNDWET | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | R504 | WPASQRDVLYL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | T474 | NDWETTIENFH | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | V498 | QTHKRVWPASQ | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | V551 | RAKINVAMICQ | 2 | Homo sapiens, Bos taurus | V551 | RAKINIAMICQ | 2 | Xenopus tropicalis, Mus musculus | V583 | TYVANVNPGGW | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | V593 | WAPASVLRAVA | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | V597 | SVLRAVAKREY | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | W499 | THKRVWPASQR | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | Y508 | QRDVLYLSAIR | 3 | Xenopus tropicalis, Mus musculus, Bos taurus | Y508 | QRDVLYLSVIR | 1 | Homo sapiens | Y579 | LCKITYVANVN | 3 | Homo sapiens, Mus musculus, Bos taurus | Y579 | QCKITYVANVN | 1 | Xenopus tropicalis | Y602 | VAKREYPKFLK | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus |
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