Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Becker/MCPH1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Chen/MCPH1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/MCPH1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Liver/MCPH1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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 |
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.1937N>A | p.Pro646Gln | p.P646Q | | protein_coding | deleterious(0) | benign(0.162) | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
MCPH1 | SNV | Missense_Mutation | | c.1936N>T | p.Pro646Ser | p.P646S | | protein_coding | deleterious(0.01) | possibly_damaging(0.474) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCPH1 | SNV | Missense_Mutation | novel | c.2361N>A | p.Ser787Arg | p.S787R | | protein_coding | deleterious(0.02) | probably_damaging(0.931) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MCPH1 | SNV | Missense_Mutation | novel | c.1660N>A | p.Glu554Lys | p.E554K | | protein_coding | tolerated(0.22) | possibly_damaging(0.465) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
MCPH1 | deletion | Frame_Shift_Del | | c.1402delA | p.Thr468ProfsTer32 | p.T468Pfs*32 | | protein_coding | | | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCPH1 | insertion | Frame_Shift_Ins | novel | c.2363_2364insGTCTGCCTTAACTGACTTGGAGGTAAATAGATTCGGAG | p.Val789SerfsTer42 | p.V789Sfs*42 | | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MCPH1 | SNV | Missense_Mutation | rs751512309 | c.2105N>T | p.Ala702Val | p.A702V | | protein_coding | deleterious(0.04) | benign(0.31) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MCPH1 | SNV | Missense_Mutation | novel | c.892N>A | p.Glu298Lys | p.E298K | | protein_coding | tolerated(0.2) | benign(0.169) | TCGA-C5-A7UI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MCPH1 | deletion | Frame_Shift_Del | | c.1402delA | p.Thr468ProfsTer32 | p.T468Pfs*32 | | protein_coding | | | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MCPH1 | SNV | Missense_Mutation | rs536823455 | c.2255G>A | p.Arg752His | p.R752H | | protein_coding | deleterious(0.03) | benign(0.013) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |