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Gene: MCPH1 |
Gene summary for MCPH1 |
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Gene information | Species | Human | Gene symbol | MCPH1 | Gene ID | 79648 |
Gene name | microcephalin 1 | |
Gene Alias | BRIT1 | |
Cytomap | 8p23.1 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q8NEM0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79648 | MCPH1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.67e-16 | -5.98e-01 | 0.0155 |
79648 | MCPH1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 5.53e-06 | -5.30e-01 | -0.1808 |
79648 | MCPH1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.56e-02 | -3.45e-01 | -0.1088 |
79648 | MCPH1 | HTA11_347_2000001011 | Human | Colorectum | AD | 6.30e-04 | -3.21e-01 | -0.1954 |
79648 | MCPH1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 9.75e-06 | -5.45e-01 | -0.1207 |
79648 | MCPH1 | HTA11_83_2000001011 | Human | Colorectum | SER | 6.43e-03 | -5.18e-01 | -0.1526 |
79648 | MCPH1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.00e-13 | -4.31e-01 | -0.1464 |
79648 | MCPH1 | HTA11_866_2000001011 | Human | Colorectum | AD | 5.17e-09 | -4.10e-01 | -0.1001 |
79648 | MCPH1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.75e-02 | -3.27e-01 | -0.059 |
79648 | MCPH1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.44e-02 | -6.13e-01 | -0.2061 |
79648 | MCPH1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.94e-03 | -6.14e-01 | -0.0179 |
79648 | MCPH1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.28e-12 | -5.59e-01 | 0.096 |
79648 | MCPH1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 3.04e-16 | -4.78e-01 | 0.0674 |
79648 | MCPH1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.49e-21 | -5.38e-01 | 0.294 |
79648 | MCPH1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 5.99e-07 | -6.02e-01 | 0.281 |
79648 | MCPH1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.73e-07 | -3.49e-01 | 0.3859 |
79648 | MCPH1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 2.62e-03 | -5.52e-01 | 0.2585 |
79648 | MCPH1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 9.75e-19 | -5.31e-01 | 0.3005 |
79648 | MCPH1 | A001-C-207 | Human | Colorectum | FAP | 6.95e-03 | -2.19e-01 | 0.1278 |
79648 | MCPH1 | A015-C-203 | Human | Colorectum | FAP | 6.82e-18 | -2.27e-01 | -0.1294 |
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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:0051656 | Colorectum | AD | establishment of organelle localization | 131/3918 | 390/18723 | 3.00e-09 | 2.06e-07 | 131 |
GO:0007163 | Colorectum | AD | establishment or maintenance of cell polarity | 77/3918 | 218/18723 | 5.72e-07 | 2.08e-05 | 77 |
GO:0030010 | Colorectum | AD | establishment of cell polarity | 50/3918 | 143/18723 | 6.90e-05 | 1.11e-03 | 50 |
GO:0033044 | Colorectum | AD | regulation of chromosome organization | 60/3918 | 187/18723 | 2.25e-04 | 2.94e-03 | 60 |
GO:0071539 | Colorectum | AD | protein localization to centrosome | 16/3918 | 33/18723 | 3.86e-04 | 4.41e-03 | 16 |
GO:1902850 | Colorectum | AD | microtubule cytoskeleton organization involved in mitosis | 48/3918 | 147/18723 | 5.87e-04 | 6.21e-03 | 48 |
GO:1905508 | Colorectum | AD | protein localization to microtubule organizing center | 16/3918 | 35/18723 | 8.76e-04 | 8.51e-03 | 16 |
GO:0046605 | Colorectum | AD | regulation of centrosome cycle | 18/3918 | 49/18723 | 7.93e-03 | 4.73e-02 | 18 |
GO:00516561 | Colorectum | SER | establishment of organelle localization | 100/2897 | 390/18723 | 1.11e-07 | 6.79e-06 | 100 |
GO:00071631 | Colorectum | SER | establishment or maintenance of cell polarity | 60/2897 | 218/18723 | 3.45e-06 | 1.33e-04 | 60 |
GO:00466051 | Colorectum | SER | regulation of centrosome cycle | 17/2897 | 49/18723 | 7.17e-04 | 9.44e-03 | 17 |
GO:00300101 | Colorectum | SER | establishment of cell polarity | 37/2897 | 143/18723 | 8.72e-04 | 1.06e-02 | 37 |
GO:00516562 | Colorectum | MSS | establishment of organelle localization | 115/3467 | 390/18723 | 7.30e-08 | 3.67e-06 | 115 |
GO:00071632 | Colorectum | MSS | establishment or maintenance of cell polarity | 72/3467 | 218/18723 | 1.90e-07 | 8.30e-06 | 72 |
GO:00300102 | Colorectum | MSS | establishment of cell polarity | 47/3467 | 143/18723 | 2.74e-05 | 5.58e-04 | 47 |
GO:00715391 | Colorectum | MSS | protein localization to centrosome | 16/3467 | 33/18723 | 8.66e-05 | 1.40e-03 | 16 |
GO:00330441 | Colorectum | MSS | regulation of chromosome organization | 55/3467 | 187/18723 | 1.86e-04 | 2.63e-03 | 55 |
GO:19055081 | Colorectum | MSS | protein localization to microtubule organizing center | 16/3467 | 35/18723 | 2.07e-04 | 2.89e-03 | 16 |
GO:19028501 | Colorectum | MSS | microtubule cytoskeleton organization involved in mitosis | 44/3467 | 147/18723 | 5.17e-04 | 5.98e-03 | 44 |
GO:0044380 | Colorectum | MSS | protein localization to cytoskeleton | 19/3467 | 58/18723 | 6.69e-03 | 4.38e-02 | 19 |
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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 |
MCPH1 | SNV | Missense_Mutation | c.521N>C | p.Ser174Thr | p.S174T | protein_coding | tolerated(0.09) | possibly_damaging(0.615) | TCGA-55-8620-01 | Lung | lung adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | PD | ||
MCPH1 | SNV | Missense_Mutation | novel | c.2158G>T | p.Gly720Cys | p.G720C | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-69-A59K-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
MCPH1 | SNV | Missense_Mutation | c.1550N>C | p.Asp517Ala | p.D517A | protein_coding | tolerated(0.19) | benign(0.108) | TCGA-75-6214-01 | Lung | lung adenocarcinoma | Female | Unknown | III/IV | Unknown | Unknown | PD | ||
MCPH1 | SNV | Missense_Mutation | rs779231385 | c.2222N>A | p.Arg741Gln | p.R741Q | protein_coding | deleterious(0.03) | possibly_damaging(0.523) | TCGA-86-A4JF-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | unknown | PD | |
MCPH1 | SNV | Missense_Mutation | novel | c.2055N>A | p.His685Gln | p.H685Q | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-91-8497-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MCPH1 | SNV | Missense_Mutation | novel | c.586N>A | p.Gln196Lys | p.Q196K | protein_coding | deleterious(0.01) | probably_damaging(0.918) | TCGA-18-3416-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
MCPH1 | SNV | Missense_Mutation | rs753406650 | c.1141N>G | p.Ile381Val | p.I381V | protein_coding | tolerated(0.42) | benign(0.005) | TCGA-18-3421-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MCPH1 | SNV | Missense_Mutation | c.596A>G | p.Gln199Arg | p.Q199R | protein_coding | deleterious(0.01) | benign(0.022) | TCGA-37-A5EM-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
MCPH1 | SNV | Missense_Mutation | novel | c.610N>C | p.Asn204His | p.N204H | protein_coding | deleterious(0.01) | probably_damaging(0.959) | TCGA-43-5670-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | taxotere | SD | |
MCPH1 | SNV | Missense_Mutation | novel | c.1195N>A | p.Gly399Arg | p.G399R | protein_coding | tolerated(0.76) | benign(0) | TCGA-56-8083-01 | Lung | lung squamous cell carcinoma | Male | <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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