GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
GO:000702914 | Esophagus | ESCC | endoplasmic reticulum organization | 65/8552 | 87/18723 | 3.28e-08 | 6.08e-07 | 65 |
GO:005120515 | Esophagus | ESCC | protein insertion into membrane | 46/8552 | 57/18723 | 5.90e-08 | 1.04e-06 | 46 |
GO:004504812 | Esophagus | ESCC | protein insertion into ER membrane | 21/8552 | 22/18723 | 8.75e-07 | 1.13e-05 | 21 |
GO:007181611 | Esophagus | ESCC | tail-anchored membrane protein insertion into ER membrane | 17/8552 | 17/18723 | 1.63e-06 | 1.95e-05 | 17 |
GO:00450503 | Esophagus | ESCC | protein insertion into ER membrane by stop-transfer membrane-anchor sequence | 10/8552 | 10/18723 | 3.94e-04 | 2.26e-03 | 10 |
GO:009015012 | Liver | HCC | establishment of protein localization to membrane | 168/7958 | 260/18723 | 4.07e-13 | 2.13e-11 | 168 |
GO:000702911 | Liver | HCC | endoplasmic reticulum organization | 64/7958 | 87/18723 | 3.92e-09 | 1.04e-07 | 64 |
GO:005120511 | Liver | HCC | protein insertion into membrane | 41/7958 | 57/18723 | 6.42e-06 | 7.83e-05 | 41 |
GO:0071816 | Liver | HCC | tail-anchored membrane protein insertion into ER membrane | 15/7958 | 17/18723 | 1.31e-04 | 1.07e-03 | 15 |
GO:00450481 | Liver | HCC | protein insertion into ER membrane | 18/7958 | 22/18723 | 1.91e-04 | 1.49e-03 | 18 |
GO:0045050 | Liver | HCC | protein insertion into ER membrane by stop-transfer membrane-anchor sequence | 10/7958 | 10/18723 | 1.92e-04 | 1.49e-03 | 10 |
GO:009015018 | Oral cavity | OSCC | establishment of protein localization to membrane | 163/7305 | 260/18723 | 7.13e-15 | 4.47e-13 | 163 |
GO:00070294 | Oral cavity | OSCC | endoplasmic reticulum organization | 58/7305 | 87/18723 | 1.59e-07 | 2.61e-06 | 58 |
GO:00512056 | Oral cavity | OSCC | protein insertion into membrane | 40/7305 | 57/18723 | 1.81e-06 | 2.34e-05 | 40 |
GO:00450502 | Oral cavity | OSCC | protein insertion into ER membrane by stop-transfer membrane-anchor sequence | 10/7305 | 10/18723 | 8.14e-05 | 6.26e-04 | 10 |
GO:00450482 | Oral cavity | OSCC | protein insertion into ER membrane | 17/7305 | 22/18723 | 2.99e-04 | 1.87e-03 | 17 |
GO:00718162 | Oral cavity | OSCC | tail-anchored membrane protein insertion into ER membrane | 14/7305 | 17/18723 | 3.31e-04 | 2.04e-03 | 14 |
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 |
MMGT1 | SNV | Missense_Mutation | | c.86N>T | p.Ser29Phe | p.S29F | Q8N4V1 | protein_coding | deleterious(0) | possibly_damaging(0.701) | TCGA-E9-A228-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MMGT1 | SNV | Missense_Mutation | novel | c.70N>A | p.Ala24Thr | p.A24T | Q8N4V1 | protein_coding | deleterious(0.04) | probably_damaging(0.936) | TCGA-PN-A8MA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
MMGT1 | SNV | Missense_Mutation | novel | c.112N>C | p.Asp38His | p.D38H | Q8N4V1 | protein_coding | tolerated(0.56) | benign(0.003) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
MMGT1 | SNV | Missense_Mutation | rs782610277 | c.389N>A | p.Arg130His | p.R130H | Q8N4V1 | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMGT1 | SNV | Missense_Mutation | novel | c.5N>T | p.Ala2Val | p.A2V | Q8N4V1 | protein_coding | tolerated(0.18) | benign(0.009) | TCGA-A5-A0GG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMGT1 | SNV | Missense_Mutation | | c.248N>T | p.Thr83Met | p.T83M | Q8N4V1 | protein_coding | tolerated(0.05) | possibly_damaging(0.896) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
MMGT1 | SNV | Missense_Mutation | rs782214612 | c.388N>T | p.Arg130Cys | p.R130C | Q8N4V1 | protein_coding | deleterious_low_confidence(0) | benign(0.353) | TCGA-B5-A0K9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMGT1 | SNV | Missense_Mutation | | c.293N>A | p.Arg98Gln | p.R98Q | Q8N4V1 | protein_coding | tolerated(0.08) | possibly_damaging(0.722) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMGT1 | SNV | Missense_Mutation | novel | c.298N>T | p.Leu100Phe | p.L100F | Q8N4V1 | protein_coding | deleterious(0) | possibly_damaging(0.885) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
MMGT1 | SNV | Missense_Mutation | novel | c.368N>C | p.Leu123Ser | p.L123S | Q8N4V1 | protein_coding | deleterious_low_confidence(0) | benign(0.278) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |