GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007155925 | Thyroid | ATC | response to transforming growth factor beta | 142/6293 | 256/18723 | 4.30e-13 | 1.94e-11 | 142 |
GO:007156026 | Thyroid | ATC | cellular response to transforming growth factor beta stimulus | 137/6293 | 250/18723 | 3.69e-12 | 1.49e-10 | 137 |
GO:000717924 | Thyroid | ATC | transforming growth factor beta receptor signaling pathway | 112/6293 | 198/18723 | 2.42e-11 | 8.44e-10 | 112 |
GO:000717823 | Thyroid | ATC | transmembrane receptor protein serine/threonine kinase signaling pathway | 170/6293 | 355/18723 | 1.40e-08 | 2.87e-07 | 170 |
GO:007160422 | Thyroid | ATC | transforming growth factor beta production | 25/6293 | 43/18723 | 8.24e-04 | 4.53e-03 | 25 |
GO:007163422 | Thyroid | ATC | regulation of transforming growth factor beta production | 24/6293 | 41/18723 | 9.12e-04 | 4.92e-03 | 24 |
GO:000716225 | Thyroid | ATC | negative regulation of cell adhesion | 127/6293 | 303/18723 | 1.45e-03 | 7.47e-03 | 127 |
GO:00600211 | Thyroid | ATC | roof of mouth development | 42/6293 | 85/18723 | 1.83e-03 | 9.02e-03 | 42 |
GO:00363631 | Thyroid | ATC | transforming growth factor beta activation | 8/6293 | 10/18723 | 3.60e-03 | 1.58e-02 | 8 |
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 |
LRRC32 | SNV | Missense_Mutation | novel | c.610N>G | p.Leu204Val | p.L204V | Q14392 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
LRRC32 | SNV | Missense_Mutation | | c.971N>G | p.Tyr324Cys | p.Y324C | Q14392 | protein_coding | deleterious(0) | probably_damaging(0.947) | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
LRRC32 | SNV | Missense_Mutation | rs757982373 | c.442N>A | p.Ala148Thr | p.A148T | Q14392 | protein_coding | deleterious(0.02) | benign(0.327) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
LRRC32 | SNV | Missense_Mutation | | c.1946N>C | p.Cys649Ser | p.C649S | Q14392 | protein_coding | deleterious(0) | possibly_damaging(0.795) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
LRRC32 | SNV | Missense_Mutation | rs370963014 | c.1070N>A | p.Arg357Gln | p.R357Q | Q14392 | protein_coding | tolerated(0.67) | benign(0) | TCGA-E9-A22H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
LRRC32 | insertion | Frame_Shift_Ins | novel | c.1822_1823insCTGCACTT | p.Val608AlafsTer6 | p.V608Afs*6 | Q14392 | protein_coding | | | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
LRRC32 | insertion | Frame_Shift_Ins | novel | c.1820_1821insCCCCCTTCCCG | p.Glu607AspfsTer8 | p.E607Dfs*8 | Q14392 | protein_coding | | | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
LRRC32 | insertion | Frame_Shift_Ins | novel | c.365_366insAGAA | p.Leu123GlufsTer58 | p.L123Efs*58 | Q14392 | protein_coding | | | TCGA-A8-A099-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
LRRC32 | deletion | Frame_Shift_Del | | c.940delN | p.Leu314PhefsTer5 | p.L314Ffs*5 | Q14392 | protein_coding | | | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | deletion | Frame_Shift_Del | | c.993delN | p.Asp332ThrfsTer7 | p.D332Tfs*7 | Q14392 | protein_coding | | | TCGA-B6-A1KN-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |