GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045216 | Colorectum | AD | cell-cell junction organization | 80/3918 | 200/18723 | 5.57e-10 | 4.58e-08 | 80 |
GO:0034329 | Colorectum | AD | cell junction assembly | 136/3918 | 420/18723 | 2.02e-08 | 1.15e-06 | 136 |
GO:0007043 | Colorectum | AD | cell-cell junction assembly | 57/3918 | 146/18723 | 4.18e-07 | 1.61e-05 | 57 |
GO:0034332 | Colorectum | AD | adherens junction organization | 20/3918 | 49/18723 | 1.23e-03 | 1.09e-02 | 20 |
GO:00452161 | Colorectum | SER | cell-cell junction organization | 63/2897 | 200/18723 | 9.15e-09 | 7.80e-07 | 63 |
GO:00070431 | Colorectum | SER | cell-cell junction assembly | 45/2897 | 146/18723 | 2.23e-06 | 9.31e-05 | 45 |
GO:00343291 | Colorectum | SER | cell junction assembly | 100/2897 | 420/18723 | 4.23e-06 | 1.61e-04 | 100 |
GO:00452162 | Colorectum | MSS | cell-cell junction organization | 69/3467 | 200/18723 | 5.07e-08 | 2.70e-06 | 69 |
GO:00343292 | Colorectum | MSS | cell junction assembly | 120/3467 | 420/18723 | 2.51e-07 | 1.07e-05 | 120 |
GO:00070432 | Colorectum | MSS | cell-cell junction assembly | 50/3467 | 146/18723 | 4.24e-06 | 1.21e-04 | 50 |
GO:00343321 | Colorectum | MSS | adherens junction organization | 18/3467 | 49/18723 | 2.03e-03 | 1.74e-02 | 18 |
GO:00452163 | Colorectum | MSI-H | cell-cell junction organization | 28/1319 | 200/18723 | 3.82e-04 | 8.73e-03 | 28 |
GO:00070433 | Colorectum | MSI-H | cell-cell junction assembly | 20/1319 | 146/18723 | 3.18e-03 | 3.93e-02 | 20 |
GO:00343293 | Colorectum | FAP | cell junction assembly | 105/2622 | 420/18723 | 1.03e-09 | 2.18e-07 | 105 |
GO:00452164 | Colorectum | FAP | cell-cell junction organization | 58/2622 | 200/18723 | 2.51e-08 | 2.36e-06 | 58 |
GO:00070434 | Colorectum | FAP | cell-cell junction assembly | 39/2622 | 146/18723 | 3.74e-05 | 8.09e-04 | 39 |
GO:00343322 | Colorectum | FAP | adherens junction organization | 18/2622 | 49/18723 | 6.06e-05 | 1.19e-03 | 18 |
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 |
CDH12 | SNV | Missense_Mutation | rs565906541 | c.516N>T | p.Met172Ile | p.M172I | P55289 | protein_coding | deleterious(0.02) | benign(0.061) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDH12 | SNV | Missense_Mutation | rs763180534 | c.2239N>A | p.Val747Met | p.V747M | P55289 | protein_coding | deleterious(0.03) | benign(0.347) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CDH12 | SNV | Missense_Mutation | | c.996N>C | p.Leu332Phe | p.L332F | P55289 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CDH12 | SNV | Missense_Mutation | | c.941N>A | p.Gly314Glu | p.G314E | P55289 | protein_coding | tolerated(1) | probably_damaging(1) | TCGA-AO-A03V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
CDH12 | SNV | Missense_Mutation | | c.1745N>T | p.Thr582Ile | p.T582I | P55289 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AR-A1AI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
CDH12 | SNV | Missense_Mutation | | c.526N>A | p.Gly176Ser | p.G176S | P55289 | protein_coding | deleterious(0.02) | benign(0.147) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDH12 | SNV | Missense_Mutation | | c.256N>A | p.Glu86Lys | p.E86K | P55289 | protein_coding | deleterious(0.02) | benign(0.024) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
CDH12 | SNV | Missense_Mutation | | c.1023N>C | p.Lys341Asn | p.K341N | P55289 | protein_coding | deleterious(0) | possibly_damaging(0.702) | TCGA-C8-A12U-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDH12 | SNV | Missense_Mutation | | c.680N>A | p.Arg227Lys | p.R227K | P55289 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CDH12 | SNV | Missense_Mutation | | c.2047N>T | p.Val683Leu | p.V683L | P55289 | protein_coding | tolerated(0.09) | benign(0.122) | TCGA-D8-A142-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamid | SD |