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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 | ATC4 | Human | Thyroid | ATC | 2.52e-25 | 6.41e-01 | 0.34 |
10469 | TIMM44 | ATC5 | Human | Thyroid | ATC | 5.60e-41 | 7.89e-01 | 0.34 |
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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:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:0006839110 | Esophagus | ESCC | mitochondrial transport | 187/8552 | 254/18723 | 8.35e-20 | 9.81e-18 | 187 |
GO:0072655110 | Esophagus | ESCC | establishment of protein localization to mitochondrion | 97/8552 | 120/18723 | 2.17e-15 | 1.33e-13 | 97 |
GO:0070585110 | Esophagus | ESCC | protein localization to mitochondrion | 100/8552 | 125/18723 | 2.96e-15 | 1.77e-13 | 100 |
GO:001703818 | Esophagus | ESCC | protein import | 149/8552 | 206/18723 | 5.90e-15 | 3.31e-13 | 149 |
GO:0006626110 | Esophagus | ESCC | protein targeting to mitochondrion | 81/8552 | 100/18723 | 3.60e-13 | 1.67e-11 | 81 |
GO:00718069 | Esophagus | ESCC | protein transmembrane transport | 47/8552 | 59/18723 | 9.02e-08 | 1.51e-06 | 47 |
GO:1990542110 | Esophagus | ESCC | mitochondrial transmembrane transport | 72/8552 | 102/18723 | 2.94e-07 | 4.23e-06 | 72 |
GO:00650026 | Esophagus | ESCC | intracellular protein transmembrane transport | 40/8552 | 51/18723 | 1.76e-06 | 2.08e-05 | 40 |
GO:00447433 | Esophagus | ESCC | protein transmembrane import into intracellular organelle | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
GO:00301503 | Esophagus | ESCC | protein import into mitochondrial matrix | 16/8552 | 20/18723 | 1.85e-03 | 8.40e-03 | 16 |
GO:007259412 | Liver | Cirrhotic | establishment of protein localization to organelle | 189/4634 | 422/18723 | 1.01e-19 | 2.45e-17 | 189 |
GO:00066057 | Liver | Cirrhotic | protein targeting | 148/4634 | 314/18723 | 3.86e-18 | 6.20e-16 | 148 |
GO:00068397 | Liver | Cirrhotic | mitochondrial transport | 112/4634 | 254/18723 | 1.03e-11 | 6.66e-10 | 112 |
GO:00705857 | Liver | Cirrhotic | protein localization to mitochondrion | 65/4634 | 125/18723 | 4.91e-11 | 2.77e-09 | 65 |
GO:00726557 | Liver | Cirrhotic | establishment of protein localization to mitochondrion | 63/4634 | 120/18723 | 5.70e-11 | 3.19e-09 | 63 |
GO:00066267 | Liver | Cirrhotic | protein targeting to mitochondrion | 53/4634 | 100/18723 | 1.19e-09 | 5.27e-08 | 53 |
GO:00718063 | Liver | Cirrhotic | protein transmembrane transport | 31/4634 | 59/18723 | 4.10e-06 | 6.90e-05 | 31 |
GO:00170387 | Liver | Cirrhotic | protein import | 77/4634 | 206/18723 | 3.56e-05 | 4.32e-04 | 77 |
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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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