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Gene: TIMMDC1 |
Gene summary for TIMMDC1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TIMMDC1 | Gene ID | 51300 |
| Gene name | translocase of inner mitochondrial membrane domain containing 1 | |
| Gene Alias | C3orf1 | |
| Cytomap | 3q13.33 | |
| Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q9NPL8 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 51300 | TIMMDC1 | HTA11_347_2000001011 | Human | Colorectum | AD | 7.37e-13 | 4.82e-01 | -0.1954 |
| 51300 | TIMMDC1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.33e-05 | 4.88e-01 | -0.059 |
| 51300 | TIMMDC1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 5.16e-06 | 2.23e-01 | 0.0674 |
| 51300 | TIMMDC1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.00e-07 | 4.15e-01 | 0.294 |
| 51300 | TIMMDC1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.53e-11 | 4.72e-01 | 0.3859 |
| 51300 | TIMMDC1 | A015-C-104 | Human | Colorectum | FAP | 8.04e-04 | -1.48e-01 | -0.1899 |
| 51300 | TIMMDC1 | LZE2T | Human | Esophagus | ESCC | 4.33e-03 | 1.06e+00 | 0.082 |
| 51300 | TIMMDC1 | LZE3D | Human | Esophagus | HGIN | 4.57e-04 | 5.15e-01 | 0.0668 |
| 51300 | TIMMDC1 | LZE4T | Human | Esophagus | ESCC | 8.41e-22 | 6.60e-01 | 0.0811 |
| 51300 | TIMMDC1 | LZE7T | Human | Esophagus | ESCC | 6.01e-08 | 8.15e-01 | 0.0667 |
| 51300 | TIMMDC1 | LZE8T | Human | Esophagus | ESCC | 3.66e-13 | 7.38e-01 | 0.067 |
| 51300 | TIMMDC1 | LZE20T | Human | Esophagus | ESCC | 5.98e-05 | 2.91e-01 | 0.0662 |
| 51300 | TIMMDC1 | LZE22T | Human | Esophagus | ESCC | 4.12e-06 | 6.92e-01 | 0.068 |
| 51300 | TIMMDC1 | LZE24T | Human | Esophagus | ESCC | 9.90e-28 | 9.75e-01 | 0.0596 |
| 51300 | TIMMDC1 | LZE6T | Human | Esophagus | ESCC | 5.20e-08 | 5.10e-01 | 0.0845 |
| 51300 | TIMMDC1 | P1T-E | Human | Esophagus | ESCC | 9.39e-17 | 9.52e-01 | 0.0875 |
| 51300 | TIMMDC1 | P2T-E | Human | Esophagus | ESCC | 5.35e-44 | 7.46e-01 | 0.1177 |
| 51300 | TIMMDC1 | P4T-E | Human | Esophagus | ESCC | 3.39e-36 | 1.13e+00 | 0.1323 |
| 51300 | TIMMDC1 | P5T-E | Human | Esophagus | ESCC | 5.90e-44 | 1.00e+00 | 0.1327 |
| 51300 | TIMMDC1 | P8T-E | Human | Esophagus | ESCC | 1.63e-45 | 9.09e-01 | 0.0889 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| TIMMDC1 | SNV | Missense_Mutation | c.638C>G | p.Ser213Cys | p.S213C | Q9NPL8 | protein_coding | tolerated(0.32) | benign(0) | TCGA-B6-A0IC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| TIMMDC1 | SNV | Missense_Mutation | novel | c.643N>C | p.Glu215Gln | p.E215Q | Q9NPL8 | protein_coding | deleterious(0) | possibly_damaging(0.693) | TCGA-C8-A8HP-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
| TIMMDC1 | SNV | Missense_Mutation | c.206G>T | p.Arg69Ile | p.R69I | Q9NPL8 | protein_coding | deleterious(0.02) | possibly_damaging(0.467) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| TIMMDC1 | SNV | Missense_Mutation | c.830C>T | p.Ser277Leu | p.S277L | Q9NPL8 | protein_coding | deleterious(0) | benign(0.134) | TCGA-EK-A2RK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| TIMMDC1 | SNV | Missense_Mutation | novel | c.836N>A | p.Ile279Lys | p.I279K | Q9NPL8 | protein_coding | tolerated_low_confidence(0.13) | benign(0) | TCGA-AA-A01S-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| TIMMDC1 | SNV | Missense_Mutation | c.680N>T | p.Ala227Val | p.A227V | Q9NPL8 | protein_coding | tolerated(0.1) | benign(0.007) | TCGA-EI-6511-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatinum+5-fu | SD | |
| TIMMDC1 | SNV | Missense_Mutation | novel | c.197N>C | p.Glu66Ala | p.E66A | Q9NPL8 | protein_coding | deleterious(0.02) | benign(0.197) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| TIMMDC1 | SNV | Missense_Mutation | rs772715835 | c.397C>T | p.Arg133Cys | p.R133C | Q9NPL8 | protein_coding | deleterious(0) | possibly_damaging(0.867) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| TIMMDC1 | SNV | Missense_Mutation | rs773553139 | c.210N>G | p.Ile70Met | p.I70M | Q9NPL8 | protein_coding | tolerated(0.13) | benign(0.055) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
| TIMMDC1 | SNV | Missense_Mutation | c.206N>T | p.Arg69Ile | p.R69I | Q9NPL8 | protein_coding | deleterious(0.02) | possibly_damaging(0.467) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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