GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
GO:00066433 | Esophagus | ESCC | membrane lipid metabolic process | 130/8552 | 203/18723 | 9.29e-08 | 1.54e-06 | 130 |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
GO:00161263 | Esophagus | ESCC | sterol biosynthetic process | 46/8552 | 64/18723 | 1.91e-05 | 1.67e-04 | 46 |
GO:00066652 | Esophagus | ESCC | sphingolipid metabolic process | 96/8552 | 155/18723 | 3.21e-05 | 2.66e-04 | 96 |
GO:00066953 | Esophagus | ESCC | cholesterol biosynthetic process | 41/8552 | 57/18723 | 5.25e-05 | 4.06e-04 | 41 |
GO:19026533 | Esophagus | ESCC | secondary alcohol biosynthetic process | 41/8552 | 57/18723 | 5.25e-05 | 4.06e-04 | 41 |
GO:00620129 | Esophagus | ESCC | regulation of small molecule metabolic process | 184/8552 | 334/18723 | 3.11e-04 | 1.85e-03 | 184 |
GO:19026524 | Esophagus | ESCC | secondary alcohol metabolic process | 87/8552 | 147/18723 | 6.58e-04 | 3.50e-03 | 87 |
GO:00461653 | Esophagus | ESCC | alcohol biosynthetic process | 83/8552 | 140/18723 | 8.04e-04 | 4.16e-03 | 83 |
GO:00066946 | Esophagus | ESCC | steroid biosynthetic process | 98/8552 | 173/18723 | 2.34e-03 | 1.03e-02 | 98 |
GO:00082034 | Esophagus | ESCC | cholesterol metabolic process | 79/8552 | 137/18723 | 3.11e-03 | 1.29e-02 | 79 |
GO:00161254 | Esophagus | ESCC | sterol metabolic process | 86/8552 | 152/18723 | 4.37e-03 | 1.73e-02 | 86 |
GO:19016174 | Esophagus | ESCC | organic hydroxy compound biosynthetic process | 128/8552 | 237/18723 | 5.86e-03 | 2.16e-02 | 128 |
GO:00323661 | Esophagus | ESCC | intracellular sterol transport | 20/8552 | 29/18723 | 9.66e-03 | 3.34e-02 | 20 |
GO:00323671 | Esophagus | ESCC | intracellular cholesterol transport | 20/8552 | 29/18723 | 9.66e-03 | 3.34e-02 | 20 |
GO:00192168 | Esophagus | ESCC | regulation of lipid metabolic process | 172/8552 | 331/18723 | 1.20e-02 | 4.02e-02 | 172 |
GO:003238615 | Oral cavity | OSCC | regulation of intracellular transport | 218/7305 | 337/18723 | 6.91e-22 | 1.41e-19 | 218 |
GO:00066432 | Oral cavity | OSCC | membrane lipid metabolic process | 111/7305 | 203/18723 | 4.02e-06 | 4.69e-05 | 111 |
GO:00060667 | Oral cavity | OSCC | alcohol metabolic process | 179/7305 | 353/18723 | 4.54e-06 | 5.21e-05 | 179 |
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 |
ARV1 | insertion | Frame_Shift_Ins | novel | c.318_319insTG | p.Leu108ValfsTer8 | p.L108Vfs*8 | Q9H2C2 | protein_coding | | | TCGA-AA-A01Z-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ARV1 | SNV | Missense_Mutation | novel | c.118N>A | p.Glu40Lys | p.E40K | Q9H2C2 | protein_coding | tolerated(0.38) | benign(0.063) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
ARV1 | SNV | Missense_Mutation | novel | c.807N>T | p.Gln269His | p.Q269H | Q9H2C2 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.984) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARV1 | SNV | Missense_Mutation | rs144095931 | c.208G>A | p.Glu70Lys | p.E70K | Q9H2C2 | protein_coding | deleterious(0) | possibly_damaging(0.695) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
ARV1 | SNV | Missense_Mutation | novel | c.665C>T | p.Ala222Val | p.A222V | Q9H2C2 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-AX-A2HG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARV1 | SNV | Missense_Mutation | rs765301350 | c.496C>T | p.Arg166Trp | p.R166W | Q9H2C2 | protein_coding | deleterious(0.02) | possibly_damaging(0.659) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ARV1 | SNV | Missense_Mutation | | c.361G>T | p.Asp121Tyr | p.D121Y | Q9H2C2 | protein_coding | deleterious(0.01) | probably_damaging(0.979) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARV1 | SNV | Missense_Mutation | novel | c.601N>T | p.His201Tyr | p.H201Y | Q9H2C2 | protein_coding | tolerated(0.16) | probably_damaging(0.998) | TCGA-BG-A221-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ARV1 | SNV | Missense_Mutation | | c.673N>T | p.Val225Leu | p.V225L | Q9H2C2 | protein_coding | deleterious(0.01) | possibly_damaging(0.754) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ARV1 | SNV | Missense_Mutation | novel | c.146N>G | p.Asn49Ser | p.N49S | Q9H2C2 | protein_coding | tolerated(0.9) | benign(0.007) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |