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mutLBSgeneDB |
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| Gene summary for TIMM44 |
 Gene summary |
| Basic gene Info. | Gene symbol | TIMM44 |
| Gene name | translocase of inner mitochondrial membrane 44 homolog (yeast) | |
| Synonyms | TIM44 | |
| Cytomap | UCSC genome browser: 19p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006351.3, | |
| Description | mitochondrial import inner membrane translocase subunit TIM44mitochondrial inner membrane translocase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605058 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000104980 | ||
| HPRD : 05450 | ||
| Vega : OTTHUMG00000182478 | ||
| Protein | UniProt: O43615 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TIMM44 | |
| BioGPS: 10469 | ||
| Pathway | NCI Pathway Interaction Database: TIMM44 | |
| KEGG: TIMM44 | ||
| REACTOME: TIMM44 | ||
| Pathway Commons: TIMM44 | ||
| Context | iHOP: TIMM44 | |
| ligand binding site mutation search in PubMed: TIMM44 | ||
| UCL Cancer Institute: TIMM44 | ||
| 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 TIMM44 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M419 | R418W | BRCA | 1 | M419 | R418L | KIRC | 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 TIMM44 |
| 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 | M419 | R418W | -0.71086281 | M419 | R418L | -0.45712597 |
| (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 TIMM44 from PDB |
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| Differential gene expression and gene-gene network for TIMM44 |
| 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 TIMM44 |
| 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 TIMM44 |
| 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 TIMM44 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 1PE | PENTAETHYLENE GLYCOL | 2cw9 | A | M419 |
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| Conservation information for LBS of TIMM44 |
| Multiple alignments for O43615 in multiple species |
| LBS | AA sequence | # species | Species | A445 | LLDISASSTEQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A445 | LLEVHMQETPL | 1 | Caenorhabditis elegans | A445 | ILEFVRGGSRQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A445 | IVDFARARAVD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M331 | NILEAMISGEL | 2 | Mus musculus, Rattus norvegicus | M331 | NVLEAMISGEL | 1 | Homo sapiens | M331 | NILEAFIRFDL | 1 | Caenorhabditis elegans | M331 | EILEAYVKGDV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M331 | EVTEAYVKGDK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M399 | QAQLVMVVRNP | 1 | Homo sapiens | M399 | QVYMINVTKNA | 1 | Caenorhabditis elegans | M399 | QAQVVMVIKNS | 1 | Mus musculus | M399 | QAQLVMVIKNP | 1 | Rattus norvegicus | M399 | RAQEINLYRKK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M399 | RTQEVHMFKDA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M419 | DKVLRMLYVWA | 2 | Homo sapiens, Rattus norvegicus | M419 | DNPKRINHIWV | 1 | Caenorhabditis elegans | M419 | DKVQRMLYVWA | 1 | Mus musculus | M419 | ANILMSSYAMV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M419 | DRIQQCTYASV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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