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mutLBSgeneDB |
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| Gene summary for CHCHD4 |
 Gene summary |
| Basic gene Info. | Gene symbol | CHCHD4 |
| Gene name | coiled-coil-helix-coiled-coil-helix domain containing 4 | |
| Synonyms | MIA40|TIMM40 | |
| Cytomap | UCSC genome browser: 3p25.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001098502.1, NM_144636.2, | |
| Description | coiled-coil-helix-coiled-coil-helix domain-containing protein 4mitochondrial intermembrane space import and assembly 40 homologmitochondrial intermembrane space import and assembly protein 40translocase of inner mitochondrial membrane 40 homolog | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611077 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000163528 | ||
| HPRD : 13045 | ||
| Vega : OTTHUMG00000129805 | ||
| Protein | UniProt: Q8N4Q1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHCHD4 | |
| BioGPS: 131474 | ||
| Pathway | NCI Pathway Interaction Database: CHCHD4 | |
| KEGG: CHCHD4 | ||
| REACTOME: CHCHD4 | ||
| Pathway Commons: CHCHD4 | ||
| Context | iHOP: CHCHD4 | |
| ligand binding site mutation search in PubMed: CHCHD4 | ||
| UCL Cancer Institute: CHCHD4 | ||
| 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 CHCHD4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R92 | R92Q | HNSC | 1 | K83 | G84R | LUAD | 1 | M59 | S61R | 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 CHCHD4 |
| 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 | R92 | R92Q | -0.52022127 | K83 | G84R | -0.46198592 | M59 | S61R | -0.30801056 |
| (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 CHCHD4 from PDB |
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| Differential gene expression and gene-gene network for CHCHD4 |
| 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 CHCHD4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CHCHD4 |
| 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 CHCHD4 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 CHCHD4 |
| Multiple alignments for Q8N4Q1 in multiple species |
| LBS | AA sequence | # species | Species | C55 | NWNCPCLGGMA | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Rattus norvegicus | F68 | PCGEQFKSAFS | 5 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Rattus norvegicus | F68 | PCGQQFKDAFS | 1 | Danio rerio | F68 | PCGEQFKAAFS | 1 | Bos taurus | F72 | QFKSAFSCFHY | 5 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Rattus norvegicus | F72 | QFKDAFSCFHY | 1 | Danio rerio | F72 | QFKAAFSCFHY | 1 | Bos taurus | F91 | DCIDQFRAMQE | 3 | Mus musculus, Rattus norvegicus, Rattus norvegicus | F91 | DCVDQFRAMQE | 2 | Homo sapiens, Bos taurus | F91 | DCVENFRGMQE | 1 | Danio rerio | F91 | DCLDQFRAMQE | 1 | Xenopus tropicalis | K83 | STEDIKGSDCI | 3 | Mus musculus, Rattus norvegicus, Rattus norvegicus | K83 | STEEIKGSDCV | 1 | Homo sapiens | K83 | SKEEIKGSDCV | 1 | Danio rerio | K83 | SQEEIKGSDCL | 1 | Xenopus tropicalis | K83 | SKEDVKGSDCV | 1 | Bos taurus | L56 | WNCPCLGGMAS | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Rattus norvegicus | M59 | PCLGGMASGPC | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Rattus norvegicus | M94 | DQFRAMQECMQ | 6 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Rattus norvegicus | M94 | ENFRGMQECMQ | 1 | Danio rerio | M98 | AMQECMQKYPD | 6 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Rattus norvegicus | M98 | GMQECMQKYPE | 1 | Danio rerio | P54 | INWNCPCLGGM | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Rattus norvegicus | Q95 | QFRAMQECMQK | 6 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Rattus norvegicus | Q95 | NFRGMQECMQK | 1 | Danio rerio | R92 | CIDQFRAMQEC | 3 | Mus musculus, Rattus norvegicus, Rattus norvegicus | R92 | CVDQFRAMQEC | 2 | Homo sapiens, Bos taurus | R92 | CVENFRGMQEC | 1 | Danio rerio | R92 | CLDQFRAMQEC | 1 | Xenopus tropicalis | V88 | KGSDCIDQFRA | 3 | Mus musculus, Rattus norvegicus, Rattus norvegicus | V88 | KGSDCVDQFRA | 2 | Homo sapiens, Bos taurus | V88 | KGSDCVENFRG | 1 | Danio rerio | V88 | KGSDCLDQFRA | 1 | Xenopus tropicalis |
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