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Gene: CHCHD1 |
Gene summary for CHCHD1 |
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Gene information | Species | Human | Gene symbol | CHCHD1 | Gene ID | 118487 |
Gene name | coiled-coil-helix-coiled-coil-helix domain containing 1 | |
Gene Alias | C10orf34 | |
Cytomap | 10q22.2 | |
Gene Type | protein-coding | GO ID | GO:0006412 | UniProtAcc | Q96BP2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
118487 | CHCHD1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 7.59e-08 | 2.59e-01 | -0.1808 |
118487 | CHCHD1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.79e-06 | 3.17e-01 | -0.0811 |
118487 | CHCHD1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.62e-12 | 2.20e-01 | -0.1954 |
118487 | CHCHD1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 6.64e-03 | 1.90e-01 | -0.1207 |
118487 | CHCHD1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.49e-04 | 1.70e-01 | -0.1464 |
118487 | CHCHD1 | HTA11_866_2000001011 | Human | Colorectum | AD | 3.46e-02 | 1.45e-01 | -0.1001 |
118487 | CHCHD1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.02e-09 | 3.86e-01 | -0.059 |
118487 | CHCHD1 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.50e-08 | 1.76e-01 | 0.096 |
118487 | CHCHD1 | HTA11_4255_2000001011 | Human | Colorectum | SER | 4.48e-07 | 3.91e-01 | 0.0446 |
118487 | CHCHD1 | HTA11_8622_2000001021 | Human | Colorectum | SER | 6.75e-04 | 2.83e-01 | 0.0528 |
118487 | CHCHD1 | HTA11_7663_2000001011 | Human | Colorectum | SER | 2.62e-02 | 2.08e-01 | 0.0131 |
118487 | CHCHD1 | HTA11_6801_2000001011 | Human | Colorectum | SER | 2.62e-07 | 5.49e-01 | 0.0171 |
118487 | CHCHD1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 4.16e-03 | 1.59e-01 | 0.0338 |
118487 | CHCHD1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 7.96e-04 | 1.57e-01 | 0.0674 |
118487 | CHCHD1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.18e-08 | 2.89e-01 | 0.294 |
118487 | CHCHD1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 5.56e-09 | 2.65e-01 | 0.281 |
118487 | CHCHD1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 4.52e-07 | 2.66e-01 | 0.3859 |
118487 | CHCHD1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 2.76e-06 | 1.86e-01 | 0.3005 |
118487 | CHCHD1 | LZE4T | Human | Esophagus | ESCC | 7.60e-10 | 1.85e-01 | 0.0811 |
118487 | CHCHD1 | LZE7T | Human | Esophagus | ESCC | 2.45e-04 | 4.47e-01 | 0.0667 |
Page: 1 2 3 4 5 6 7 8 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1902110 | Stomach | GC | positive regulation of mitochondrial membrane permeability involved in apoptotic process | 8/1159 | 38/18723 | 1.94e-03 | 1.98e-02 | 8 |
GO:19057103 | Stomach | GC | positive regulation of membrane permeability | 9/1159 | 48/18723 | 2.43e-03 | 2.30e-02 | 9 |
GO:19026864 | Stomach | GC | mitochondrial outer membrane permeabilization involved in programmed cell death | 8/1159 | 40/18723 | 2.74e-03 | 2.52e-02 | 8 |
GO:1902108 | Stomach | GC | regulation of mitochondrial membrane permeability involved in apoptotic process | 8/1159 | 45/18723 | 5.84e-03 | 4.44e-02 | 8 |
GO:004603411 | Stomach | CAG with IM | ATP metabolic process | 72/1050 | 277/18723 | 6.46e-29 | 1.72e-25 | 72 |
GO:000611911 | Stomach | CAG with IM | oxidative phosphorylation | 46/1050 | 141/18723 | 2.12e-23 | 3.76e-20 | 46 |
GO:000609111 | Stomach | CAG with IM | generation of precursor metabolites and energy | 86/1050 | 490/18723 | 1.45e-21 | 1.93e-18 | 86 |
GO:000906011 | Stomach | CAG with IM | aerobic respiration | 49/1050 | 189/18723 | 5.39e-20 | 5.75e-17 | 49 |
GO:004533311 | Stomach | CAG with IM | cellular respiration | 54/1050 | 230/18723 | 9.39e-20 | 8.34e-17 | 54 |
GO:001598011 | Stomach | CAG with IM | energy derivation by oxidation of organic compounds | 64/1050 | 318/18723 | 1.96e-19 | 1.49e-16 | 64 |
GO:000683911 | Stomach | CAG with IM | mitochondrial transport | 42/1050 | 254/18723 | 2.58e-10 | 4.44e-08 | 42 |
GO:000863711 | Stomach | CAG with IM | apoptotic mitochondrial changes | 21/1050 | 107/18723 | 4.27e-07 | 2.42e-05 | 21 |
GO:00512351 | Stomach | CAG with IM | maintenance of location | 38/1050 | 327/18723 | 1.71e-05 | 5.34e-04 | 38 |
GO:001082111 | Stomach | CAG with IM | regulation of mitochondrion organization | 21/1050 | 144/18723 | 5.35e-05 | 1.36e-03 | 21 |
GO:005165111 | Stomach | CAG with IM | maintenance of location in cell | 27/1050 | 214/18723 | 6.85e-05 | 1.66e-03 | 27 |
GO:000700611 | Stomach | CAG with IM | mitochondrial membrane organization | 18/1050 | 116/18723 | 7.92e-05 | 1.86e-03 | 18 |
GO:19010281 | Stomach | CAG with IM | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway | 7/1050 | 21/18723 | 9.92e-05 | 2.19e-03 | 7 |
GO:004690211 | Stomach | CAG with IM | regulation of mitochondrial membrane permeability | 12/1050 | 63/18723 | 1.70e-04 | 3.28e-03 | 12 |
GO:00973451 | Stomach | CAG with IM | mitochondrial outer membrane permeabilization | 8/1050 | 32/18723 | 3.00e-04 | 5.12e-03 | 8 |
GO:003579411 | Stomach | CAG with IM | positive regulation of mitochondrial membrane permeability | 9/1050 | 43/18723 | 5.31e-04 | 7.95e-03 | 9 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 |
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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 |
∗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 |
CHCHD1 | SNV | Missense_Mutation | c.100N>T | p.Gly34Trp | p.G34W | Q96BP2 | protein_coding | deleterious(0) | possibly_damaging(0.731) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD | |
CHCHD1 | SNV | Missense_Mutation | c.44A>G | p.Asn15Ser | p.N15S | Q96BP2 | protein_coding | tolerated(0.14) | possibly_damaging(0.549) | TCGA-AA-3655-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
CHCHD1 | SNV | Missense_Mutation | novel | c.308A>C | p.Lys103Thr | p.K103T | Q96BP2 | protein_coding | tolerated(0.1) | benign(0.015) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
CHCHD1 | SNV | Missense_Mutation | novel | c.347A>G | p.Tyr116Cys | p.Y116C | Q96BP2 | protein_coding | deleterious_low_confidence(0.01) | benign(0.219) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
CHCHD1 | SNV | Missense_Mutation | novel | c.285G>T | p.Glu95Asp | p.E95D | Q96BP2 | protein_coding | tolerated(0.2) | benign(0.026) | TCGA-DD-A4ND-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
CHCHD1 | SNV | Missense_Mutation | novel | c.312G>C | p.Leu104Phe | p.L104F | Q96BP2 | protein_coding | deleterious(0.03) | benign(0.034) | TCGA-T3-A92M-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
CHCHD1 | SNV | Missense_Mutation | novel | c.124N>A | p.Glu42Lys | p.E42K | Q96BP2 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BJ-A45J-01 | Thyroid | thyroid carcinoma | 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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