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 | novel | c.2255N>T | p.Ser752Ile | p.S752I | P55289 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-52-7811-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
CDH12 | SNV | Missense_Mutation | novel | c.737T>C | p.Leu246Pro | p.L246P | P55289 | protein_coding | tolerated(0.15) | probably_damaging(0.999) | TCGA-56-7222-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
CDH12 | SNV | Missense_Mutation | novel | c.841N>A | p.Ser281Thr | p.S281T | P55289 | protein_coding | tolerated(0.13) | benign(0.009) | TCGA-56-8307-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDH12 | SNV | Missense_Mutation | novel | c.363G>T | p.Glu121Asp | p.E121D | P55289 | protein_coding | deleterious(0) | benign(0.241) | TCGA-60-2703-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
CDH12 | SNV | Missense_Mutation | novel | c.1362G>T | p.Gln454His | p.Q454H | P55289 | protein_coding | deleterious(0) | possibly_damaging(0.77) | TCGA-60-2704-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | taxotere | PD |
CDH12 | SNV | Missense_Mutation | novel | c.559G>T | p.Ala187Ser | p.A187S | P55289 | protein_coding | deleterious(0.01) | probably_damaging(0.986) | TCGA-60-2704-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | taxotere | PD |
CDH12 | SNV | Missense_Mutation | | c.1918C>A | p.Gln640Lys | p.Q640K | P55289 | protein_coding | tolerated(0.12) | benign(0.321) | TCGA-60-2726-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CDH12 | SNV | Missense_Mutation | | c.326G>T | p.Gly109Val | p.G109V | P55289 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-63-A5MP-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
CDH12 | SNV | Missense_Mutation | | c.1963G>T | p.Asp655Tyr | p.D655Y | P55289 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-66-2754-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
CDH12 | SNV | Missense_Mutation | | c.325G>A | p.Gly109Arg | p.G109R | P55289 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-66-2770-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |