GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0033108111 | Thyroid | PTC | mitochondrial respiratory chain complex assembly | 65/5968 | 93/18723 | 5.60e-14 | 3.21e-12 | 65 |
GO:000700624 | Thyroid | PTC | mitochondrial membrane organization | 68/5968 | 116/18723 | 2.47e-09 | 6.88e-08 | 68 |
GO:0010639112 | Thyroid | PTC | negative regulation of organelle organization | 163/5968 | 348/18723 | 3.04e-09 | 8.39e-08 | 163 |
GO:001082124 | Thyroid | PTC | regulation of mitochondrion organization | 78/5968 | 144/18723 | 2.38e-08 | 5.43e-07 | 78 |
GO:0031667113 | Thyroid | PTC | response to nutrient levels | 201/5968 | 474/18723 | 7.00e-07 | 1.10e-05 | 201 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:00482846 | Thyroid | PTC | organelle fusion | 71/5968 | 141/18723 | 3.68e-06 | 4.70e-05 | 71 |
GO:001931810 | Thyroid | PTC | hexose metabolic process | 108/5968 | 237/18723 | 6.42e-06 | 7.65e-05 | 108 |
GO:000599614 | Thyroid | PTC | monosaccharide metabolic process | 115/5968 | 257/18723 | 9.36e-06 | 1.05e-04 | 115 |
GO:014046714 | Thyroid | PTC | integrated stress response signaling | 17/5968 | 22/18723 | 1.58e-05 | 1.67e-04 | 17 |
GO:00065156 | Thyroid | PTC | protein quality control for misfolded or incompletely synthesized proteins | 20/5968 | 28/18723 | 2.01e-05 | 2.04e-04 | 20 |
GO:000600615 | Thyroid | PTC | glucose metabolic process | 90/5968 | 196/18723 | 2.54e-05 | 2.50e-04 | 90 |
GO:00070078 | Thyroid | PTC | inner mitochondrial membrane organization | 24/5968 | 38/18723 | 7.14e-05 | 6.19e-04 | 24 |
GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
GO:00349822 | Thyroid | PTC | mitochondrial protein processing | 10/5968 | 13/18723 | 1.11e-03 | 6.51e-03 | 10 |
GO:001082318 | Thyroid | PTC | negative regulation of mitochondrion organization | 25/5968 | 49/18723 | 4.09e-03 | 1.95e-02 | 25 |
GO:010610613 | Thyroid | PTC | cold-induced thermogenesis | 61/5968 | 144/18723 | 5.08e-03 | 2.35e-02 | 61 |
GO:012016113 | Thyroid | PTC | regulation of cold-induced thermogenesis | 61/5968 | 144/18723 | 5.08e-03 | 2.35e-02 | 61 |
GO:00080534 | Thyroid | PTC | mitochondrial fusion | 15/5968 | 27/18723 | 9.19e-03 | 3.79e-02 | 15 |
GO:199084513 | Thyroid | PTC | adaptive thermogenesis | 64/5968 | 157/18723 | 1.14e-02 | 4.50e-02 | 64 |
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 |
OMA1 | SNV | Missense_Mutation | | c.304N>A | p.Asp102Asn | p.D102N | Q96E52 | protein_coding | tolerated_low_confidence(0.41) | benign(0) | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
OMA1 | SNV | Missense_Mutation | rs768227326 | c.1503N>A | p.Met501Ile | p.M501I | Q96E52 | protein_coding | tolerated(0.19) | benign(0.011) | TCGA-A7-A26J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
OMA1 | SNV | Missense_Mutation | | c.244N>G | p.Leu82Val | p.L82V | Q96E52 | protein_coding | tolerated_low_confidence(0.07) | benign(0.03) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
OMA1 | SNV | Missense_Mutation | rs369792266 | c.53G>A | p.Arg18Gln | p.R18Q | Q96E52 | protein_coding | tolerated_low_confidence(0.28) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OMA1 | SNV | Missense_Mutation | | c.982G>A | p.Glu328Lys | p.E328K | Q96E52 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A1ND-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
OMA1 | insertion | In_Frame_Ins | novel | c.971_972insGGGCAA | p.Leu324_Leu325insGlyAsn | p.L324_L325insGN | Q96E52 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
OMA1 | SNV | Missense_Mutation | | c.1381G>A | p.Glu461Lys | p.E461K | Q96E52 | protein_coding | tolerated(0.07) | benign(0.001) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
OMA1 | SNV | Missense_Mutation | novel | c.1462N>C | p.Ser488Pro | p.S488P | Q96E52 | protein_coding | deleterious(0.03) | benign(0.143) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
OMA1 | SNV | Missense_Mutation | rs181552885 | c.106N>T | p.Arg36Trp | p.R36W | Q96E52 | protein_coding | deleterious_low_confidence(0.02) | benign(0.109) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OMA1 | SNV | Missense_Mutation | | c.1491G>T | p.Lys497Asn | p.K497N | Q96E52 | protein_coding | deleterious(0.05) | benign(0.077) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |