GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:0051098 | Colorectum | AD | regulation of binding | 126/3918 | 363/18723 | 6.01e-10 | 4.88e-08 | 126 |
GO:0051099 | Colorectum | AD | positive regulation of binding | 66/3918 | 173/18723 | 1.47e-07 | 6.64e-06 | 66 |
GO:0043393 | Colorectum | AD | regulation of protein binding | 68/3918 | 196/18723 | 5.17e-06 | 1.34e-04 | 68 |
GO:0032092 | Colorectum | AD | positive regulation of protein binding | 33/3918 | 85/18723 | 1.22e-04 | 1.78e-03 | 33 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:00458622 | Colorectum | MSS | positive regulation of proteolysis | 119/3467 | 372/18723 | 2.14e-10 | 2.09e-08 | 119 |
GO:00510982 | Colorectum | MSS | regulation of binding | 113/3467 | 363/18723 | 3.55e-09 | 2.41e-07 | 113 |
GO:00510992 | Colorectum | MSS | positive regulation of binding | 59/3467 | 173/18723 | 7.11e-07 | 2.53e-05 | 59 |
GO:00433932 | Colorectum | MSS | regulation of protein binding | 62/3467 | 196/18723 | 6.44e-06 | 1.69e-04 | 62 |
GO:00320921 | Colorectum | MSS | positive regulation of protein binding | 29/3467 | 85/18723 | 4.44e-04 | 5.32e-03 | 29 |
GO:00516042 | Colorectum | MSS | protein maturation | 75/3467 | 294/18723 | 1.70e-03 | 1.53e-02 | 75 |
GO:0034249 | Colorectum | MSS | negative regulation of cellular amide metabolic process | 70/3467 | 273/18723 | 2.07e-03 | 1.76e-02 | 70 |
GO:00164852 | Colorectum | MSS | protein processing | 57/3467 | 225/18723 | 6.60e-03 | 4.38e-02 | 57 |
GO:0050435 | Colorectum | MSS | amyloid-beta metabolic process | 21/3467 | 67/18723 | 7.90e-03 | 4.84e-02 | 21 |
GO:00510984 | Colorectum | FAP | regulation of binding | 81/2622 | 363/18723 | 1.04e-05 | 2.97e-04 | 81 |
GO:00458624 | Colorectum | FAP | positive regulation of proteolysis | 81/2622 | 372/18723 | 2.64e-05 | 6.08e-04 | 81 |
GO:00510994 | Colorectum | FAP | positive regulation of binding | 44/2622 | 173/18723 | 4.52e-05 | 9.40e-04 | 44 |
GO:00320923 | Colorectum | FAP | positive regulation of protein binding | 25/2622 | 85/18723 | 1.76e-04 | 2.62e-03 | 25 |
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 |
SPON1 | SNV | Missense_Mutation | novel | c.494N>C | p.Gln165Pro | p.Q165P | Q9HCB6 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-A2-A0YD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
SPON1 | SNV | Missense_Mutation | novel | c.1364N>C | p.Ser455Thr | p.S455T | Q9HCB6 | protein_coding | tolerated(0.1) | probably_damaging(0.995) | TCGA-A8-A07I-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
SPON1 | SNV | Missense_Mutation | novel | c.791C>T | p.Ser264Leu | p.S264L | Q9HCB6 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPON1 | SNV | Missense_Mutation | novel | c.651N>C | p.Glu217Asp | p.E217D | Q9HCB6 | protein_coding | tolerated(0.13) | possibly_damaging(0.726) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
SPON1 | SNV | Missense_Mutation | novel | c.1513T>A | p.Ser505Thr | p.S505T | Q9HCB6 | protein_coding | tolerated(0.3) | benign(0.322) | TCGA-GI-A2C9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | | SD |
SPON1 | SNV | Missense_Mutation | novel | c.719N>G | p.Ser240Cys | p.S240C | Q9HCB6 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-LL-A73Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
SPON1 | insertion | Nonsense_Mutation | novel | c.1045_1046insTCATTTGAAATTCACAGGAACCCTTTGGAGTAGACGT | p.Asp349ValfsTer3 | p.D349Vfs*3 | Q9HCB6 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
SPON1 | SNV | Missense_Mutation | novel | c.781N>A | p.Glu261Lys | p.E261K | Q9HCB6 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
SPON1 | SNV | Missense_Mutation | rs782564186 | c.1552G>A | p.Gly518Ser | p.G518S | Q9HCB6 | protein_coding | deleterious(0) | possibly_damaging(0.761) | TCGA-C5-A8YQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
SPON1 | SNV | Missense_Mutation | novel | c.2312N>A | p.Gly771Glu | p.G771E | Q9HCB6 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.666) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |