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 |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1903320 | Colorectum | AD | regulation of protein modification by small protein conjugation or removal | 86/3918 | 242/18723 | 9.43e-08 | 4.65e-06 | 86 |
GO:0071383 | Colorectum | AD | cellular response to steroid hormone stimulus | 73/3918 | 204/18723 | 6.31e-07 | 2.24e-05 | 73 |
GO:0030522 | Colorectum | AD | intracellular receptor signaling pathway | 87/3918 | 265/18723 | 3.69e-06 | 1.03e-04 | 87 |
GO:0043401 | Colorectum | AD | steroid hormone mediated signaling pathway | 51/3918 | 136/18723 | 6.52e-06 | 1.63e-04 | 51 |
GO:0048545 | Colorectum | AD | response to steroid hormone | 104/3918 | 339/18723 | 1.33e-05 | 2.90e-04 | 104 |
GO:0001701 | Colorectum | AD | in utero embryonic development | 110/3918 | 367/18723 | 2.36e-05 | 4.62e-04 | 110 |
GO:0009755 | Colorectum | AD | hormone-mediated signaling pathway | 64/3918 | 190/18723 | 2.78e-05 | 5.24e-04 | 64 |
GO:0030518 | Colorectum | AD | intracellular steroid hormone receptor signaling pathway | 43/3918 | 116/18723 | 4.61e-05 | 7.97e-04 | 43 |
GO:0030521 | Colorectum | AD | androgen receptor signaling pathway | 20/3918 | 44/18723 | 2.26e-04 | 2.94e-03 | 20 |
GO:0021859 | Colorectum | AD | pyramidal neuron differentiation | 9/3918 | 13/18723 | 2.38e-04 | 3.03e-03 | 9 |
GO:0045785 | Colorectum | AD | positive regulation of cell adhesion | 122/3918 | 437/18723 | 2.65e-04 | 3.28e-03 | 122 |
GO:0007568 | Colorectum | AD | aging | 98/3918 | 339/18723 | 2.77e-04 | 3.39e-03 | 98 |
GO:0021860 | Colorectum | AD | pyramidal neuron development | 8/3918 | 11/18723 | 3.26e-04 | 3.85e-03 | 8 |
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:0006354 | Colorectum | AD | DNA-templated transcription, elongation | 31/3918 | 91/18723 | 2.46e-03 | 1.90e-02 | 31 |
GO:1903706 | Colorectum | AD | regulation of hemopoiesis | 99/3918 | 367/18723 | 3.08e-03 | 2.28e-02 | 99 |
GO:0060395 | Colorectum | AD | SMAD protein signal transduction | 28/3918 | 82/18723 | 3.73e-03 | 2.63e-02 | 28 |
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 |
ZMIZ1 | SNV | Missense_Mutation | | c.314G>A | p.Arg105His | p.R105H | Q9ULJ6 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.964) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ZMIZ1 | SNV | Missense_Mutation | novel | c.974C>T | p.Ala325Val | p.A325V | Q9ULJ6 | protein_coding | tolerated_low_confidence(0.06) | benign(0.158) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ZMIZ1 | SNV | Missense_Mutation | rs758682774 | c.1067C>T | p.Thr356Met | p.T356M | Q9ULJ6 | protein_coding | tolerated_low_confidence(0.16) | possibly_damaging(0.513) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ZMIZ1 | SNV | Missense_Mutation | novel | c.1913N>T | p.Thr638Ile | p.T638I | Q9ULJ6 | protein_coding | deleterious(0.05) | benign(0.041) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
ZMIZ1 | SNV | Missense_Mutation | rs753707755 | c.2845N>A | p.Ala949Thr | p.A949T | Q9ULJ6 | protein_coding | tolerated_low_confidence(0.17) | benign(0.047) | TCGA-JW-A5VK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZMIZ1 | SNV | Missense_Mutation | | c.1502N>T | p.Pro501Leu | p.P501L | Q9ULJ6 | protein_coding | deleterious_low_confidence(0.03) | benign(0.255) | TCGA-A6-A56B-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | fluorouracil | PD |
ZMIZ1 | SNV | Missense_Mutation | | c.260N>G | p.Lys87Arg | p.K87R | Q9ULJ6 | protein_coding | deleterious_low_confidence(0.05) | possibly_damaging(0.899) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ZMIZ1 | SNV | Missense_Mutation | rs775001691 | c.1446N>A | p.Phe482Leu | p.F482L | Q9ULJ6 | protein_coding | tolerated_low_confidence(0.31) | benign(0.034) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ZMIZ1 | SNV | Missense_Mutation | novel | c.1577T>C | p.Ile526Thr | p.I526T | Q9ULJ6 | protein_coding | deleterious(0) | benign(0.358) | TCGA-AA-A01I-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ZMIZ1 | SNV | Missense_Mutation | | c.2243N>A | p.Arg748His | p.R748H | Q9ULJ6 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |