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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0019932 | Lung | AIS | second-messenger-mediated signaling | 46/1849 | 312/18723 | 3.79e-03 | 3.52e-02 | 46 |
GO:000697923 | Lung | MIAC | response to oxidative stress | 43/967 | 446/18723 | 6.39e-05 | 3.12e-03 | 43 |
GO:00199321 | Lung | MIAC | second-messenger-mediated signaling | 30/967 | 312/18723 | 8.15e-04 | 1.80e-02 | 30 |
GO:003010022 | Lung | MIAC | regulation of endocytosis | 22/967 | 211/18723 | 1.39e-03 | 2.51e-02 | 22 |
GO:190288222 | Lung | MIAC | regulation of response to oxidative stress | 13/967 | 98/18723 | 1.57e-03 | 2.67e-02 | 13 |
GO:0051588 | Lung | MIAC | regulation of neurotransmitter transport | 13/967 | 100/18723 | 1.89e-03 | 3.02e-02 | 13 |
GO:19028832 | Lung | MIAC | negative regulation of response to oxidative stress | 6/967 | 27/18723 | 2.17e-03 | 3.35e-02 | 6 |
GO:000697920 | Oral cavity | OSCC | response to oxidative stress | 273/7305 | 446/18723 | 8.35e-22 | 1.65e-19 | 273 |
GO:003010016 | Oral cavity | OSCC | regulation of endocytosis | 121/7305 | 211/18723 | 4.74e-08 | 8.80e-07 | 121 |
GO:190288218 | Oral cavity | OSCC | regulation of response to oxidative stress | 50/7305 | 98/18723 | 1.03e-02 | 3.53e-02 | 50 |
GO:003010023 | Oral cavity | EOLP | regulation of endocytosis | 51/2218 | 211/18723 | 4.24e-07 | 1.19e-05 | 51 |
GO:000697926 | Oral cavity | EOLP | response to oxidative stress | 87/2218 | 446/18723 | 1.62e-06 | 3.80e-05 | 87 |
GO:00303366 | Oral cavity | EOLP | negative regulation of cell migration | 64/2218 | 344/18723 | 1.57e-04 | 1.67e-03 | 64 |
GO:00512716 | Oral cavity | EOLP | negative regulation of cellular component movement | 67/2218 | 367/18723 | 1.97e-04 | 2.00e-03 | 67 |
GO:20001466 | Oral cavity | EOLP | negative regulation of cell motility | 65/2218 | 359/18723 | 3.09e-04 | 2.89e-03 | 65 |
GO:00510517 | Oral cavity | EOLP | negative regulation of transport | 80/2218 | 470/18723 | 5.11e-04 | 4.44e-03 | 80 |
GO:00400136 | Oral cavity | EOLP | negative regulation of locomotion | 67/2218 | 391/18723 | 1.17e-03 | 8.47e-03 | 67 |
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 |
MCTP1 | SNV | Missense_Mutation | rs772947808 | c.903N>G | p.Ile301Met | p.I301M | Q6DN14 | protein_coding | deleterious(0.02) | probably_damaging(0.978) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
MCTP1 | SNV | Missense_Mutation | novel | c.488N>T | p.Ser163Leu | p.S163L | Q6DN14 | protein_coding | tolerated(0.06) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MCTP1 | SNV | Missense_Mutation | novel | c.1754N>A | p.Thr585Lys | p.T585K | Q6DN14 | protein_coding | deleterious(0.02) | probably_damaging(0.984) | TCGA-AC-A2QH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
MCTP1 | SNV | Missense_Mutation | | c.1185N>A | p.Met395Ile | p.M395I | Q6DN14 | protein_coding | tolerated(0.12) | benign(0.001) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MCTP1 | SNV | Missense_Mutation | | c.524N>T | p.Arg175Met | p.R175M | Q6DN14 | protein_coding | tolerated_low_confidence(0.19) | benign(0.436) | TCGA-D8-A1XG-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
MCTP1 | SNV | Missense_Mutation | novel | c.2758G>A | p.Ala920Thr | p.A920T | Q6DN14 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MCTP1 | SNV | Missense_Mutation | | c.2707G>A | p.Glu903Lys | p.E903K | Q6DN14 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MCTP1 | SNV | Missense_Mutation | novel | c.1821G>T | p.Glu607Asp | p.E607D | Q6DN14 | protein_coding | tolerated(0.43) | benign(0.039) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MCTP1 | SNV | Missense_Mutation | novel | c.1142N>G | p.Leu381Arg | p.L381R | Q6DN14 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MCTP1 | SNV | Missense_Mutation | novel | c.754G>A | p.Glu252Lys | p.E252K | Q6DN14 | protein_coding | tolerated(0.09) | benign(0.038) | TCGA-C5-A905-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |