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:00715393 | Colorectum | CRC | protein localization to centrosome | 11/2078 | 33/18723 | 5.80e-04 | 7.89e-03 | 11 |
GO:00987271 | Colorectum | CRC | maintenance of cell number | 28/2078 | 134/18723 | 6.94e-04 | 9.05e-03 | 28 |
GO:19055083 | Colorectum | CRC | protein localization to microtubule organizing center | 11/2078 | 35/18723 | 1.02e-03 | 1.20e-02 | 11 |
GO:00219871 | Colorectum | CRC | cerebral cortex development | 24/2078 | 114/18723 | 1.45e-03 | 1.57e-02 | 24 |
GO:00215431 | Colorectum | CRC | pallium development | 32/2078 | 169/18723 | 1.74e-03 | 1.79e-02 | 32 |
GO:0060348 | Colorectum | CRC | bone development | 37/2078 | 205/18723 | 1.96e-03 | 1.96e-02 | 37 |
GO:0021537 | Colorectum | CRC | telencephalon development | 43/2078 | 248/18723 | 2.01e-03 | 2.01e-02 | 43 |
GO:00726982 | Colorectum | CRC | protein localization to microtubule cytoskeleton | 13/2078 | 54/18723 | 5.25e-03 | 3.98e-02 | 13 |
GO:0051653 | Colorectum | CRC | spindle localization | 13/2078 | 56/18723 | 7.26e-03 | 4.98e-02 | 13 |
GO:005165616 | Esophagus | HGIN | establishment of organelle localization | 90/2587 | 390/18723 | 4.27e-07 | 1.94e-05 | 90 |
GO:00330449 | Esophagus | HGIN | regulation of chromosome organization | 51/2587 | 187/18723 | 8.91e-07 | 3.61e-05 | 51 |
GO:00198277 | Esophagus | HGIN | stem cell population maintenance | 39/2587 | 131/18723 | 1.63e-06 | 6.14e-05 | 39 |
GO:00987278 | Esophagus | HGIN | maintenance of cell number | 39/2587 | 134/18723 | 3.02e-06 | 1.03e-04 | 39 |
GO:19028507 | Esophagus | HGIN | microtubule cytoskeleton organization involved in mitosis | 36/2587 | 147/18723 | 3.61e-04 | 5.68e-03 | 36 |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:003304416 | Esophagus | ESCC | regulation of chromosome organization | 145/8552 | 187/18723 | 3.80e-19 | 4.31e-17 | 145 |
GO:190285015 | Esophagus | ESCC | microtubule cytoskeleton organization involved in mitosis | 116/8552 | 147/18723 | 1.25e-16 | 9.91e-15 | 116 |
GO:000716320 | Esophagus | ESCC | establishment or maintenance of cell polarity | 143/8552 | 218/18723 | 2.05e-09 | 4.65e-08 | 143 |
GO:003001018 | Esophagus | ESCC | establishment of cell polarity | 96/8552 | 143/18723 | 1.69e-07 | 2.67e-06 | 96 |
GO:00726985 | Esophagus | ESCC | protein localization to microtubule cytoskeleton | 43/8552 | 54/18723 | 3.28e-07 | 4.61e-06 | 43 |
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 |