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Gene: TIMM44 |
Gene summary for TIMM44 |
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Gene information | Species | Human | Gene symbol | TIMM44 | Gene ID | 10469 |
Gene name | translocase of inner mitochondrial membrane 44 | |
Gene Alias | TIM44 | |
Cytomap | 19p13.2 | |
Gene Type | protein-coding | GO ID | GO:0006605 | UniProtAcc | O43615 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10469 | TIMM44 | LZE4T | Human | Esophagus | ESCC | 1.26e-08 | 1.85e-01 | 0.0811 |
10469 | TIMM44 | LZE7T | Human | Esophagus | ESCC | 3.67e-09 | 3.66e-01 | 0.0667 |
10469 | TIMM44 | LZE8T | Human | Esophagus | ESCC | 1.43e-04 | 1.38e-01 | 0.067 |
10469 | TIMM44 | LZE20T | Human | Esophagus | ESCC | 2.65e-04 | 4.68e-02 | 0.0662 |
10469 | TIMM44 | LZE22T | Human | Esophagus | ESCC | 8.88e-04 | 1.56e-01 | 0.068 |
10469 | TIMM44 | LZE24T | Human | Esophagus | ESCC | 2.24e-17 | 3.49e-01 | 0.0596 |
10469 | TIMM44 | LZE21T | Human | Esophagus | ESCC | 4.39e-05 | 2.70e-01 | 0.0655 |
10469 | TIMM44 | P1T-E | Human | Esophagus | ESCC | 2.38e-09 | 3.36e-01 | 0.0875 |
10469 | TIMM44 | P2T-E | Human | Esophagus | ESCC | 5.15e-16 | 1.76e-01 | 0.1177 |
10469 | TIMM44 | P4T-E | Human | Esophagus | ESCC | 2.30e-16 | 3.59e-01 | 0.1323 |
10469 | TIMM44 | P5T-E | Human | Esophagus | ESCC | 4.59e-16 | 3.48e-01 | 0.1327 |
10469 | TIMM44 | P8T-E | Human | Esophagus | ESCC | 2.71e-17 | 2.98e-01 | 0.0889 |
10469 | TIMM44 | P9T-E | Human | Esophagus | ESCC | 1.82e-20 | 4.31e-01 | 0.1131 |
10469 | TIMM44 | P10T-E | Human | Esophagus | ESCC | 5.43e-27 | 5.40e-01 | 0.116 |
10469 | TIMM44 | P11T-E | Human | Esophagus | ESCC | 1.50e-15 | 3.33e-01 | 0.1426 |
10469 | TIMM44 | P12T-E | Human | Esophagus | ESCC | 1.67e-22 | 3.89e-01 | 0.1122 |
10469 | TIMM44 | P15T-E | Human | Esophagus | ESCC | 1.56e-18 | 3.53e-01 | 0.1149 |
10469 | TIMM44 | P16T-E | Human | Esophagus | ESCC | 4.13e-18 | 1.49e-01 | 0.1153 |
10469 | TIMM44 | P17T-E | Human | Esophagus | ESCC | 2.08e-10 | 4.01e-01 | 0.1278 |
10469 | TIMM44 | P19T-E | Human | Esophagus | ESCC | 2.09e-04 | 5.78e-01 | 0.1662 |
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∗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 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006500214 | Thyroid | PTC | intracellular protein transmembrane transport | 27/5968 | 51/18723 | 1.44e-03 | 8.06e-03 | 27 |
GO:007259429 | Thyroid | ATC | establishment of protein localization to organelle | 247/6293 | 422/18723 | 2.88e-26 | 1.40e-23 | 247 |
GO:000660533 | Thyroid | ATC | protein targeting | 180/6293 | 314/18723 | 3.54e-18 | 4.39e-16 | 180 |
GO:000683929 | Thyroid | ATC | mitochondrial transport | 151/6293 | 254/18723 | 2.07e-17 | 2.14e-15 | 151 |
GO:007058533 | Thyroid | ATC | protein localization to mitochondrion | 83/6293 | 125/18723 | 6.24e-14 | 3.37e-12 | 83 |
GO:007265533 | Thyroid | ATC | establishment of protein localization to mitochondrion | 80/6293 | 120/18723 | 1.27e-13 | 6.46e-12 | 80 |
GO:000662626 | Thyroid | ATC | protein targeting to mitochondrion | 67/6293 | 100/18723 | 8.62e-12 | 3.21e-10 | 67 |
GO:001703822 | Thyroid | ATC | protein import | 110/6293 | 206/18723 | 3.49e-09 | 8.09e-08 | 110 |
GO:199054226 | Thyroid | ATC | mitochondrial transmembrane transport | 57/6293 | 102/18723 | 3.05e-06 | 3.49e-05 | 57 |
GO:007180631 | Thyroid | ATC | protein transmembrane transport | 32/6293 | 59/18723 | 8.74e-04 | 4.72e-03 | 32 |
GO:006500231 | Thyroid | ATC | intracellular protein transmembrane transport | 27/6293 | 51/18723 | 3.41e-03 | 1.52e-02 | 27 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
TIMM44 | SMC | Esophagus | ESCC | SLC7A5,CLDN1,DSP, etc. | 3.40e-02 | ![]() |
∗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. |
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Somatic mutation of malignant transformation related genes |
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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 |
TIMM44 | SNV | Missense_Mutation | novel | c.1324N>A | p.Asp442Asn | p.D442N | O43615 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AC-A5XU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
TIMM44 | SNV | Missense_Mutation | c.543N>T | p.Gln181His | p.Q181H | O43615 | protein_coding | deleterious(0.05) | benign(0.106) | TCGA-AN-A0AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
TIMM44 | SNV | Missense_Mutation | novel | c.890C>T | p.Ser297Leu | p.S297L | O43615 | protein_coding | deleterious(0.03) | probably_damaging(0.989) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM44 | SNV | Missense_Mutation | rs143337629 | c.1307N>T | p.Ala436Val | p.A436V | O43615 | protein_coding | tolerated(0.12) | benign(0.305) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
TIMM44 | SNV | Missense_Mutation | c.783N>A | p.Met261Ile | p.M261I | O43615 | protein_coding | tolerated(0.24) | benign(0.269) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
TIMM44 | SNV | Missense_Mutation | rs764491703 | c.605G>A | p.Arg202Gln | p.R202Q | O43615 | protein_coding | tolerated(0.23) | benign(0.048) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
TIMM44 | SNV | Missense_Mutation | novel | c.303N>T | p.Arg101Ser | p.R101S | O43615 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-AA-A02R-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TIMM44 | SNV | Missense_Mutation | rs774365744 | c.622N>T | p.Arg208Trp | p.R208W | O43615 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD |
TIMM44 | deletion | Frame_Shift_Del | c.249delA | p.Lys83AsnfsTer9 | p.K83Nfs*9 | O43615 | protein_coding | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
TIMM44 | deletion | Frame_Shift_Del | c.249delN | p.Lys83AsnfsTer9 | p.K83Nfs*9 | O43615 | protein_coding | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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