GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0048545113 | Thyroid | PTC | response to steroid hormone | 158/5968 | 339/18723 | 8.10e-09 | 2.00e-07 | 158 |
GO:0031960111 | Thyroid | PTC | response to corticosteroid | 69/5968 | 167/18723 | 6.18e-03 | 2.74e-02 | 69 |
GO:0051384111 | Thyroid | PTC | response to glucocorticoid | 62/5968 | 148/18723 | 6.39e-03 | 2.81e-02 | 62 |
GO:001604927 | Thyroid | ATC | cell growth | 241/6293 | 482/18723 | 4.27e-14 | 2.35e-12 | 241 |
GO:000155826 | Thyroid | ATC | regulation of cell growth | 201/6293 | 414/18723 | 1.57e-10 | 4.76e-09 | 201 |
GO:0048545210 | Thyroid | ATC | response to steroid hormone | 168/6293 | 339/18723 | 7.21e-10 | 1.88e-08 | 168 |
GO:006034813 | Thyroid | ATC | bone development | 102/6293 | 205/18723 | 1.18e-06 | 1.52e-05 | 102 |
GO:0060349 | Thyroid | ATC | bone morphogenesis | 50/6293 | 93/18723 | 4.87e-05 | 3.88e-04 | 50 |
GO:00487053 | Thyroid | ATC | skeletal system morphogenesis | 101/6293 | 220/18723 | 9.48e-05 | 6.93e-04 | 101 |
GO:000697016 | Thyroid | ATC | response to osmotic stress | 45/6293 | 84/18723 | 1.27e-04 | 9.03e-04 | 45 |
GO:005138427 | Thyroid | ATC | response to glucocorticoid | 65/6293 | 148/18723 | 5.62e-03 | 2.28e-02 | 65 |
GO:000756517 | Thyroid | ATC | female pregnancy | 82/6293 | 193/18723 | 6.04e-03 | 2.42e-02 | 82 |
GO:003196027 | Thyroid | ATC | response to corticosteroid | 72/6293 | 167/18723 | 6.39e-03 | 2.55e-02 | 72 |
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 |
PAPPA | SNV | Missense_Mutation | | c.2344N>C | p.Tyr782His | p.Y782H | Q13219 | protein_coding | tolerated(0.34) | benign(0.003) | TCGA-E2-A1L7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
PAPPA | SNV | Missense_Mutation | rs144065173 | c.2536G>A | p.Val846Met | p.V846M | Q13219 | protein_coding | tolerated(0.08) | benign(0.03) | TCGA-EW-A1IX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | femara | SD |
PAPPA | SNV | Missense_Mutation | rs142176678 | c.3728N>A | p.Arg1243Gln | p.R1243Q | Q13219 | protein_coding | tolerated(0.89) | benign(0) | TCGA-EW-A1IY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
PAPPA | SNV | Missense_Mutation | | c.3498N>A | p.Phe1166Leu | p.F1166L | Q13219 | protein_coding | deleterious(0.01) | probably_damaging(0.98) | TCGA-EW-A1PC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
PAPPA | insertion | In_Frame_Ins | novel | c.3684_3685insTGTGAGCCACCACACCCGACCTCAAAGCATTTCTCATAT | p.Ser1228_Ser1229insCysGluProProHisProThrSerLysHisPheSerTyr | p.S1228_S1229insCEPPHPTSKHFSY | Q13219 | protein_coding | | | TCGA-A8-A0A6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | epirubicin | CR |
PAPPA | SNV | Missense_Mutation | rs867106756 | c.2668N>T | p.Arg890Trp | p.R890W | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
PAPPA | SNV | Missense_Mutation | | c.3370G>A | p.Asp1124Asn | p.D1124N | Q13219 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-Q1-A6DT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
PAPPA | SNV | Missense_Mutation | novel | c.847N>G | p.Gln283Glu | p.Q283E | Q13219 | protein_coding | tolerated(1) | benign(0.003) | TCGA-VS-A954-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
PAPPA | SNV | Missense_Mutation | rs769567920 | c.495C>A | p.Asn165Lys | p.N165K | Q13219 | protein_coding | tolerated(0.84) | benign(0.083) | TCGA-A6-5659-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | rs769001950 | c.4568N>A | p.Arg1523His | p.R1523H | Q13219 | protein_coding | deleterious(0.01) | benign(0.213) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |