Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0032535 | Colorectum | AD | regulation of cellular component size | 142/3918 | 383/18723 | 1.74e-13 | 3.41e-11 | 142 |
GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
GO:0001558 | Colorectum | AD | regulation of cell growth | 124/3918 | 414/18723 | 7.67e-06 | 1.86e-04 | 124 |
GO:0032530 | Colorectum | AD | regulation of microvillus organization | 10/3918 | 13/18723 | 2.43e-05 | 4.69e-04 | 10 |
GO:0032528 | Colorectum | AD | microvillus organization | 14/3918 | 24/18723 | 6.90e-05 | 1.11e-03 | 14 |
GO:0045926 | Colorectum | AD | negative regulation of growth | 70/3918 | 249/18723 | 4.07e-03 | 2.83e-02 | 70 |
GO:00325351 | Colorectum | SER | regulation of cellular component size | 115/2897 | 383/18723 | 3.04e-13 | 1.10e-10 | 115 |
GO:00325301 | Colorectum | SER | regulation of microvillus organization | 10/2897 | 13/18723 | 1.41e-06 | 6.46e-05 | 10 |
GO:00325281 | Colorectum | SER | microvillus organization | 14/2897 | 24/18723 | 1.83e-06 | 7.80e-05 | 14 |
GO:00015581 | Colorectum | SER | regulation of cell growth | 90/2897 | 414/18723 | 4.00e-04 | 6.02e-03 | 90 |
GO:00160491 | Colorectum | SER | cell growth | 100/2897 | 482/18723 | 1.07e-03 | 1.24e-02 | 100 |
GO:00459261 | Colorectum | SER | negative regulation of growth | 55/2897 | 249/18723 | 3.44e-03 | 2.92e-02 | 55 |
GO:0032536 | Colorectum | SER | regulation of cell projection size | 6/2897 | 12/18723 | 5.42e-03 | 4.03e-02 | 6 |
GO:001604921 | Liver | HCC | cell growth | 269/7958 | 482/18723 | 1.84e-09 | 5.35e-08 | 269 |
GO:003253522 | Liver | HCC | regulation of cellular component size | 217/7958 | 383/18723 | 1.28e-08 | 3.14e-07 | 217 |
GO:000155821 | Liver | HCC | regulation of cell growth | 228/7958 | 414/18723 | 1.34e-07 | 2.55e-06 | 228 |
GO:00325307 | Liver | HCC | regulation of microvillus organization | 12/7958 | 13/18723 | 2.73e-04 | 1.98e-03 | 12 |
GO:00325286 | Liver | HCC | microvillus organization | 18/7958 | 24/18723 | 1.27e-03 | 6.92e-03 | 18 |
GO:00459263 | Liver | HCC | negative regulation of growth | 129/7958 | 249/18723 | 1.81e-03 | 9.37e-03 | 129 |
GO:0030308 | Liver | HCC | negative regulation of cell growth | 98/7958 | 188/18723 | 4.74e-03 | 2.02e-02 | 98 |
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 |
CDHR2 | SNV | Missense_Mutation | novel | c.2693N>T | p.Asp898Val | p.D898V | Q9BYE9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A0A9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
CDHR2 | SNV | Missense_Mutation | | c.1159N>A | p.Asp387Asn | p.D387N | Q9BYE9 | protein_coding | tolerated(0.33) | benign(0.073) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDHR2 | SNV | Missense_Mutation | | c.3427N>G | p.Ser1143Gly | p.S1143G | Q9BYE9 | protein_coding | tolerated(0.39) | benign(0.038) | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDHR2 | SNV | Missense_Mutation | | c.3428N>C | p.Ser1143Thr | p.S1143T | Q9BYE9 | protein_coding | tolerated(0.58) | benign(0.003) | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDHR2 | SNV | Missense_Mutation | novel | c.2722N>C | p.Tyr908His | p.Y908H | Q9BYE9 | protein_coding | tolerated(0.06) | possibly_damaging(0.556) | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
CDHR2 | SNV | Missense_Mutation | | c.1466N>A | p.Val489Glu | p.V489E | Q9BYE9 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
CDHR2 | SNV | Missense_Mutation | rs777738616 | c.1310N>T | p.Ala437Val | p.A437V | Q9BYE9 | protein_coding | tolerated(0.09) | benign(0.001) | TCGA-E2-A1B4-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
CDHR2 | SNV | Missense_Mutation | | c.3450A>T | p.Lys1150Asn | p.K1150N | Q9BYE9 | protein_coding | tolerated(0.46) | benign(0.001) | TCGA-E2-A1LS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cyclophosphamide | SD |
CDHR2 | SNV | Missense_Mutation | novel | c.2005G>A | p.Asp669Asn | p.D669N | Q9BYE9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-GM-A3NW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
CDHR2 | insertion | Frame_Shift_Ins | novel | c.2694_2695insT | p.Leu899SerfsTer21 | p.L899Sfs*21 | Q9BYE9 | protein_coding | | | TCGA-A8-A0A9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |