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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0070997113 | Thyroid | PTC | neuron death | 171/5968 | 361/18723 | 4.32e-10 | 1.38e-08 | 171 |
GO:005165019 | Thyroid | PTC | establishment of vesicle localization | 89/5968 | 161/18723 | 6.38e-10 | 1.97e-08 | 89 |
GO:005164817 | Thyroid | PTC | vesicle localization | 94/5968 | 177/18723 | 3.54e-09 | 9.45e-08 | 94 |
GO:1905897113 | Thyroid | PTC | regulation of response to endoplasmic reticulum stress | 52/5968 | 82/18723 | 4.18e-09 | 1.10e-07 | 52 |
GO:1901214113 | Thyroid | PTC | regulation of neuron death | 151/5968 | 319/18723 | 4.74e-09 | 1.24e-07 | 151 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:00064878 | Thyroid | PTC | protein N-linked glycosylation | 38/5968 | 65/18723 | 8.71e-06 | 9.94e-05 | 38 |
GO:190121518 | Thyroid | PTC | negative regulation of neuron death | 95/5968 | 208/18723 | 2.01e-05 | 2.04e-04 | 95 |
GO:190589815 | Thyroid | PTC | positive regulation of response to endoplasmic reticulum stress | 23/5968 | 35/18723 | 4.02e-05 | 3.68e-04 | 23 |
GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
GO:00064866 | Thyroid | PTC | protein glycosylation | 94/5968 | 226/18723 | 1.25e-03 | 7.13e-03 | 94 |
GO:00434136 | Thyroid | PTC | macromolecule glycosylation | 94/5968 | 226/18723 | 1.25e-03 | 7.13e-03 | 94 |
GO:19042924 | Thyroid | PTC | regulation of ERAD pathway | 13/5968 | 20/18723 | 2.37e-03 | 1.24e-02 | 13 |
GO:19042945 | Thyroid | PTC | positive regulation of ERAD pathway | 10/5968 | 14/18723 | 2.77e-03 | 1.38e-02 | 10 |
GO:00700855 | Thyroid | PTC | glycosylation | 96/5968 | 240/18723 | 4.57e-03 | 2.15e-02 | 96 |
GO:00091013 | Thyroid | PTC | glycoprotein biosynthetic process | 123/5968 | 317/18723 | 5.05e-03 | 2.33e-02 | 123 |
GO:00091003 | Thyroid | PTC | glycoprotein metabolic process | 147/5968 | 387/18723 | 5.87e-03 | 2.64e-02 | 147 |
GO:0045862210 | Thyroid | goiters | positive regulation of proteolysis | 28/497 | 372/18723 | 8.12e-07 | 4.73e-05 | 28 |
GO:1903362210 | Thyroid | goiters | regulation of cellular protein catabolic process | 22/497 | 255/18723 | 1.35e-06 | 7.39e-05 | 22 |
GO:003497628 | Thyroid | goiters | response to endoplasmic reticulum stress | 20/497 | 256/18723 | 1.77e-05 | 6.80e-04 | 20 |
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 |
TMEM2 | SNV | Missense_Mutation | novel | c.3527G>A | p.Arg1176Lys | p.R1176K | Q9UHN6 | protein_coding | tolerated(0.66) | benign(0) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TMEM2 | SNV | Missense_Mutation | novel | c.3357N>A | p.Phe1119Leu | p.F1119L | Q9UHN6 | protein_coding | deleterious(0.03) | possibly_damaging(0.49) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM2 | SNV | Missense_Mutation | | c.1139N>G | p.Gln380Arg | p.Q380R | Q9UHN6 | protein_coding | tolerated(0.68) | benign(0.001) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM2 | insertion | Nonsense_Mutation | novel | c.922_923insCTGAATCTGTGGGATCTACTAAAGTTTA | p.Arg308ProfsTer10 | p.R308Pfs*10 | Q9UHN6 | protein_coding | | | TCGA-AO-A0JF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
TMEM2 | SNV | Missense_Mutation | novel | c.3854N>T | p.Ser1285Phe | p.S1285F | Q9UHN6 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TMEM2 | SNV | Missense_Mutation | rs772803934 | c.1469N>A | p.Arg490Gln | p.R490Q | Q9UHN6 | protein_coding | deleterious(0.03) | benign(0.264) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TMEM2 | SNV | Missense_Mutation | | c.415N>T | p.Asp139Tyr | p.D139Y | Q9UHN6 | protein_coding | tolerated(0.07) | possibly_damaging(0.87) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TMEM2 | SNV | Missense_Mutation | novel | c.1885N>G | p.Thr629Ala | p.T629A | Q9UHN6 | protein_coding | deleterious(0.05) | benign(0.083) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM2 | SNV | Missense_Mutation | rs776808520 | c.314C>T | p.Ser105Leu | p.S105L | Q9UHN6 | protein_coding | deleterious(0) | benign(0.03) | TCGA-FU-A3HY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TMEM2 | SNV | Missense_Mutation | | c.2635C>T | p.His879Tyr | p.H879Y | Q9UHN6 | protein_coding | tolerated(1) | benign(0.171) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |