GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
GO:0045862113 | Thyroid | PTC | positive regulation of proteolysis | 198/5968 | 372/18723 | 6.68e-18 | 6.91e-16 | 198 |
GO:0022604112 | Thyroid | PTC | regulation of cell morphogenesis | 165/5968 | 309/18723 | 2.60e-15 | 1.82e-13 | 165 |
GO:0010810112 | Thyroid | PTC | regulation of cell-substrate adhesion | 113/5968 | 221/18723 | 1.87e-09 | 5.28e-08 | 113 |
GO:0031589111 | Thyroid | PTC | cell-substrate adhesion | 169/5968 | 363/18723 | 2.73e-09 | 7.57e-08 | 169 |
GO:0010769111 | Thyroid | PTC | regulation of cell morphogenesis involved in differentiation | 57/5968 | 96/18723 | 2.50e-08 | 5.62e-07 | 57 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:0034446111 | Thyroid | PTC | substrate adhesion-dependent cell spreading | 58/5968 | 108/18723 | 2.07e-06 | 2.82e-05 | 58 |
GO:1900024111 | Thyroid | PTC | regulation of substrate adhesion-dependent cell spreading | 35/5968 | 57/18723 | 4.20e-06 | 5.20e-05 | 35 |
GO:00301986 | Thyroid | PTC | extracellular matrix organization | 124/5968 | 301/18723 | 3.75e-04 | 2.53e-03 | 124 |
GO:00430626 | Thyroid | PTC | extracellular structure organization | 124/5968 | 302/18723 | 4.38e-04 | 2.92e-03 | 124 |
GO:00452296 | Thyroid | PTC | external encapsulating structure organization | 124/5968 | 304/18723 | 5.96e-04 | 3.79e-03 | 124 |
GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
GO:0055076110 | Thyroid | PTC | transition metal ion homeostasis | 62/5968 | 138/18723 | 8.66e-04 | 5.30e-03 | 62 |
GO:19030554 | Thyroid | PTC | positive regulation of extracellular matrix organization | 16/5968 | 25/18723 | 9.53e-04 | 5.72e-03 | 16 |
GO:19030533 | Thyroid | PTC | regulation of extracellular matrix organization | 26/5968 | 48/18723 | 1.13e-03 | 6.59e-03 | 26 |
GO:005507210 | Thyroid | PTC | iron ion homeostasis | 39/5968 | 85/18723 | 4.71e-03 | 2.21e-02 | 39 |
GO:00107554 | Thyroid | PTC | regulation of plasminogen activation | 9/5968 | 13/18723 | 6.33e-03 | 2.79e-02 | 9 |
GO:000716219 | Thyroid | PTC | negative regulation of cell adhesion | 117/5968 | 303/18723 | 7.28e-03 | 3.12e-02 | 117 |
GO:002241124 | Thyroid | ATC | cellular component disassembly | 248/6293 | 443/18723 | 1.34e-22 | 3.69e-20 | 248 |
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 |
MELTF | SNV | Missense_Mutation | rs778156728 | c.850N>T | p.Arg284Trp | p.R284W | P08582 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-4H-AAAK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | CR |
MELTF | SNV | Missense_Mutation | | c.1472N>A | p.Gly491Asp | p.G491D | P08582 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MELTF | SNV | Missense_Mutation | rs745564030 | c.799N>A | p.Glu267Lys | p.E267K | P08582 | protein_coding | tolerated(0.08) | benign(0.352) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
MELTF | SNV | Missense_Mutation | rs202082579 | c.454C>T | p.Arg152Cys | p.R152C | P08582 | protein_coding | tolerated(0.15) | possibly_damaging(0.809) | TCGA-BH-A0DQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MELTF | SNV | Missense_Mutation | rs767709260 | c.1402N>T | p.Asp468Tyr | p.D468Y | P08582 | protein_coding | deleterious(0.01) | possibly_damaging(0.721) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
MELTF | SNV | Missense_Mutation | | c.496N>C | p.Asp166His | p.D166H | P08582 | protein_coding | deleterious(0.04) | benign(0.111) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
MELTF | SNV | Missense_Mutation | | c.178N>C | p.Ala60Pro | p.A60P | P08582 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-D8-A27T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD |
MELTF | SNV | Missense_Mutation | novel | c.1423T>C | p.Ser475Pro | p.S475P | P08582 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A158-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | arimidex | SD |
MELTF | SNV | Missense_Mutation | novel | c.2117C>T | p.Ser706Phe | p.S706F | P08582 | protein_coding | deleterious(0.04) | possibly_damaging(0.694) | TCGA-LL-A50Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | CR |
MELTF | SNV | Missense_Mutation | novel | c.1939N>T | p.Asp647Tyr | p.D647Y | P08582 | protein_coding | deleterious(0.02) | possibly_damaging(0.879) | TCGA-PL-A8LZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |