Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | 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 | rs549929887 | c.1487C>T | p.Ser496Leu | p.S496L | | protein_coding | tolerated(0.67) | benign(0) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCPH1 | SNV | Missense_Mutation | novel | c.1478N>A | p.Arg493His | p.R493H | | protein_coding | tolerated(0.17) | benign(0.001) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
MCPH1 | SNV | Missense_Mutation | rs188726432 | c.1664N>T | p.Ala555Val | p.A555V | | protein_coding | tolerated(0.48) | benign(0) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCPH1 | SNV | Missense_Mutation | | c.2431N>A | p.Leu811Met | p.L811M | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MCPH1 | SNV | Missense_Mutation | novel | c.850G>A | p.Asp284Asn | p.D284N | | protein_coding | tolerated(1) | benign(0) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCPH1 | SNV | Missense_Mutation | rs143393335 | c.991C>T | p.Arg331Cys | p.R331C | | protein_coding | tolerated(0.16) | benign(0.007) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCPH1 | SNV | Missense_Mutation | novel | c.1598C>T | p.Ala533Val | p.A533V | | protein_coding | tolerated(0.12) | benign(0.015) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCPH1 | SNV | Missense_Mutation | novel | c.211N>A | p.Val71Ile | p.V71I | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
MCPH1 | SNV | Missense_Mutation | novel | c.1692N>T | p.Lys564Asn | p.K564N | | protein_coding | deleterious(0.02) | benign(0.038) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
MCPH1 | SNV | Missense_Mutation | rs376996626 | c.2077C>T | p.Arg693Cys | p.R693C | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |