GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0060249 | Colorectum | AD | anatomical structure homeostasis | 94/3918 | 314/18723 | 9.37e-05 | 1.42e-03 | 94 |
GO:0001894 | Colorectum | AD | tissue homeostasis | 81/3918 | 268/18723 | 1.96e-04 | 2.62e-03 | 81 |
GO:0007178 | Colorectum | AD | transmembrane receptor protein serine/threonine kinase signaling pathway | 99/3918 | 355/18723 | 9.92e-04 | 9.28e-03 | 99 |
GO:0071559 | Colorectum | AD | response to transforming growth factor beta | 74/3918 | 256/18723 | 1.45e-03 | 1.23e-02 | 74 |
GO:0071560 | Colorectum | AD | cellular response to transforming growth factor beta stimulus | 72/3918 | 250/18723 | 1.85e-03 | 1.52e-02 | 72 |
GO:0007179 | Colorectum | AD | transforming growth factor beta receptor signaling pathway | 59/3918 | 198/18723 | 1.94e-03 | 1.58e-02 | 59 |
GO:0060390 | Colorectum | AD | regulation of SMAD protein signal transduction | 14/3918 | 31/18723 | 2.10e-03 | 1.67e-02 | 14 |
GO:0060395 | Colorectum | AD | SMAD protein signal transduction | 28/3918 | 82/18723 | 3.73e-03 | 2.63e-02 | 28 |
GO:0030277 | Colorectum | AD | maintenance of gastrointestinal epithelium | 10/3918 | 22/18723 | 8.52e-03 | 4.97e-02 | 10 |
GO:00602492 | Colorectum | MSS | anatomical structure homeostasis | 84/3467 | 314/18723 | 1.87e-04 | 2.64e-03 | 84 |
GO:00018942 | Colorectum | MSS | tissue homeostasis | 72/3467 | 268/18723 | 4.53e-04 | 5.40e-03 | 72 |
GO:00603901 | Colorectum | MSS | regulation of SMAD protein signal transduction | 14/3467 | 31/18723 | 5.98e-04 | 6.60e-03 | 14 |
GO:00226001 | Colorectum | MSS | digestive system process | 31/3467 | 104/18723 | 3.46e-03 | 2.59e-02 | 31 |
GO:00071781 | Colorectum | MSS | transmembrane receptor protein serine/threonine kinase signaling pathway | 86/3467 | 355/18723 | 4.04e-03 | 2.95e-02 | 86 |
GO:00715591 | Colorectum | FAP | response to transforming growth factor beta | 63/2622 | 256/18723 | 3.82e-06 | 1.32e-04 | 63 |
GO:00071782 | Colorectum | FAP | transmembrane receptor protein serine/threonine kinase signaling pathway | 81/2622 | 355/18723 | 4.28e-06 | 1.46e-04 | 81 |
GO:00715601 | Colorectum | FAP | cellular response to transforming growth factor beta stimulus | 61/2622 | 250/18723 | 7.22e-06 | 2.19e-04 | 61 |
GO:00071791 | Colorectum | FAP | transforming growth factor beta receptor signaling pathway | 50/2622 | 198/18723 | 1.75e-05 | 4.44e-04 | 50 |
GO:00018944 | Colorectum | FAP | tissue homeostasis | 61/2622 | 268/18723 | 6.71e-05 | 1.28e-03 | 61 |
GO:00602494 | Colorectum | FAP | anatomical structure homeostasis | 69/2622 | 314/18723 | 7.51e-05 | 1.37e-03 | 69 |
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 |
PBLD | insertion | Nonsense_Mutation | novel | c.551_552insCAGGGCTCAGAACTTTCAGTGCTAAAACCAGAAC | p.Leu185ArgfsTer8 | p.L185Rfs*8 | P30039 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PBLD | SNV | Missense_Mutation | | c.59N>T | p.Pro20Leu | p.P20L | P30039 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A1MK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
PBLD | SNV | Missense_Mutation | | c.607N>A | p.Glu203Lys | p.E203K | P30039 | protein_coding | tolerated(0.26) | benign(0.003) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
PBLD | SNV | Missense_Mutation | rs750680281 | c.299N>T | p.Thr100Met | p.T100M | P30039 | protein_coding | deleterious(0.04) | benign(0.017) | TCGA-VS-A8QH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | gemcitabine | PD |
PBLD | SNV | Missense_Mutation | novel | c.709N>A | p.Leu237Ile | p.L237I | P30039 | protein_coding | deleterious(0.04) | possibly_damaging(0.884) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PBLD | SNV | Missense_Mutation | novel | c.358N>A | p.Val120Ile | p.V120I | P30039 | protein_coding | tolerated(0.58) | benign(0.003) | TCGA-AX-A3G9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PBLD | SNV | Missense_Mutation | | c.514N>C | p.Ser172Pro | p.S172P | P30039 | protein_coding | deleterious(0.01) | probably_damaging(0.917) | TCGA-BS-A0UM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PBLD | SNV | Missense_Mutation | | c.814N>A | p.Val272Ile | p.V272I | P30039 | protein_coding | tolerated(0.21) | benign(0.057) | TCGA-D1-A101-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PBLD | SNV | Missense_Mutation | novel | c.525N>T | p.Glu175Asp | p.E175D | P30039 | protein_coding | deleterious(0) | probably_damaging(0.947) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PBLD | SNV | Missense_Mutation | novel | c.836C>A | p.Ala279Asp | p.A279D | P30039 | protein_coding | deleterious(0.03) | benign(0.295) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |