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:0019318 | Colorectum | AD | hexose metabolic process | 77/3918 | 237/18723 | 1.96e-05 | 4.01e-04 | 77 |
GO:0005996 | Colorectum | AD | monosaccharide metabolic process | 80/3918 | 257/18723 | 7.31e-05 | 1.17e-03 | 80 |
GO:0006487 | Colorectum | AD | protein N-linked glycosylation | 25/3918 | 65/18723 | 9.12e-04 | 8.71e-03 | 25 |
GO:0009225 | Colorectum | AD | nucleotide-sugar metabolic process | 16/3918 | 36/18723 | 1.27e-03 | 1.12e-02 | 16 |
GO:0006486 | Colorectum | AD | protein glycosylation | 64/3918 | 226/18723 | 4.86e-03 | 3.27e-02 | 64 |
GO:0043413 | Colorectum | AD | macromolecule glycosylation | 64/3918 | 226/18723 | 4.86e-03 | 3.27e-02 | 64 |
GO:0070085 | Colorectum | AD | glycosylation | 67/3918 | 240/18723 | 5.78e-03 | 3.67e-02 | 67 |
GO:00064871 | Colorectum | MSS | protein N-linked glycosylation | 23/3467 | 65/18723 | 9.47e-04 | 9.54e-03 | 23 |
GO:00193182 | Colorectum | MSS | hexose metabolic process | 63/3467 | 237/18723 | 1.32e-03 | 1.25e-02 | 63 |
GO:00059962 | Colorectum | MSS | monosaccharide metabolic process | 66/3467 | 257/18723 | 2.61e-03 | 2.06e-02 | 66 |
GO:00092252 | Colorectum | MSS | nucleotide-sugar metabolic process | 14/3467 | 36/18723 | 3.40e-03 | 2.56e-02 | 14 |
GO:00193183 | Colorectum | FAP | hexose metabolic process | 58/2622 | 237/18723 | 1.09e-05 | 3.08e-04 | 58 |
GO:00059963 | Colorectum | FAP | monosaccharide metabolic process | 59/2622 | 257/18723 | 6.79e-05 | 1.28e-03 | 59 |
GO:00064861 | Colorectum | FAP | protein glycosylation | 48/2622 | 226/18723 | 1.85e-03 | 1.57e-02 | 48 |
GO:00434131 | Colorectum | FAP | macromolecule glycosylation | 48/2622 | 226/18723 | 1.85e-03 | 1.57e-02 | 48 |
GO:00700851 | Colorectum | FAP | glycosylation | 50/2622 | 240/18723 | 2.30e-03 | 1.85e-02 | 50 |
GO:0009101 | Colorectum | FAP | glycoprotein biosynthetic process | 63/2622 | 317/18723 | 2.31e-03 | 1.86e-02 | 63 |
GO:00064872 | Colorectum | FAP | protein N-linked glycosylation | 18/2622 | 65/18723 | 2.85e-03 | 2.19e-02 | 18 |
GO:00092253 | Colorectum | CRC | nucleotide-sugar metabolic process | 10/2078 | 36/18723 | 4.68e-03 | 3.62e-02 | 10 |
GO:00064876 | Esophagus | HGIN | protein N-linked glycosylation | 17/2587 | 65/18723 | 6.04e-03 | 4.87e-02 | 17 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00051 | Colorectum | AD | Fructose and mannose metabolism | 17/2092 | 34/8465 | 1.25e-03 | 8.02e-03 | 5.12e-03 | 17 |
hsa000511 | Colorectum | AD | Fructose and mannose metabolism | 17/2092 | 34/8465 | 1.25e-03 | 8.02e-03 | 5.12e-03 | 17 |
hsa01250 | Colorectum | FAP | Biosynthesis of nucleotide sugars | 13/1404 | 37/8465 | 4.79e-03 | 1.91e-02 | 1.16e-02 | 13 |
hsa012501 | Colorectum | FAP | Biosynthesis of nucleotide sugars | 13/1404 | 37/8465 | 4.79e-03 | 1.91e-02 | 1.16e-02 | 13 |
hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa012505 | Esophagus | ESCC | Biosynthesis of nucleotide sugars | 28/4205 | 37/8465 | 1.10e-03 | 3.42e-03 | 1.75e-03 | 28 |
hsa005202 | Esophagus | ESCC | Amino sugar and nucleotide sugar metabolism | 35/4205 | 49/8465 | 1.60e-03 | 4.88e-03 | 2.50e-03 | 35 |
hsa000512 | Esophagus | ESCC | Fructose and mannose metabolism | 24/4205 | 34/8465 | 1.09e-02 | 2.51e-02 | 1.29e-02 | 24 |
hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0125012 | Esophagus | ESCC | Biosynthesis of nucleotide sugars | 28/4205 | 37/8465 | 1.10e-03 | 3.42e-03 | 1.75e-03 | 28 |
hsa0052011 | Esophagus | ESCC | Amino sugar and nucleotide sugar metabolism | 35/4205 | 49/8465 | 1.60e-03 | 4.88e-03 | 2.50e-03 | 35 |
hsa0005111 | Esophagus | ESCC | Fructose and mannose metabolism | 24/4205 | 34/8465 | 1.09e-02 | 2.51e-02 | 1.29e-02 | 24 |
hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
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 |
PMM2 | SNV | Missense_Mutation | | c.569N>A | p.Arg190Lys | p.R190K | O15305 | protein_coding | tolerated(0.16) | possibly_damaging(0.84) | TCGA-BI-A0VS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PMM2 | SNV | Missense_Mutation | novel | c.283N>A | p.Leu95Ile | p.L95I | O15305 | protein_coding | tolerated(0.19) | benign(0.007) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PMM2 | SNV | Missense_Mutation | | c.618C>A | p.Phe206Leu | p.F206L | O15305 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PMM2 | SNV | Missense_Mutation | rs746610168 | c.421C>T | p.Arg141Cys | p.R141C | O15305 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PMM2 | SNV | Missense_Mutation | rs200503569 | c.323N>T | p.Ala108Val | p.A108V | O15305 | protein_coding | deleterious(0.01) | benign(0.107) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PMM2 | SNV | Missense_Mutation | novel | c.269A>G | p.His90Arg | p.H90R | O15305 | protein_coding | tolerated(0.18) | possibly_damaging(0.489) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PMM2 | SNV | Missense_Mutation | novel | c.281N>T | p.Ala94Val | p.A94V | O15305 | protein_coding | deleterious(0.01) | benign(0.003) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PMM2 | SNV | Missense_Mutation | | c.229N>G | p.Lys77Glu | p.K77E | O15305 | protein_coding | tolerated(0.08) | benign(0.007) | TCGA-B5-A11H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Hormone Therapy | megace | SD |
PMM2 | SNV | Missense_Mutation | | c.254N>G | p.Gln85Arg | p.Q85R | O15305 | protein_coding | deleterious(0.03) | benign(0.072) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PMM2 | SNV | Missense_Mutation | | c.618C>A | p.Phe206Leu | p.F206L | O15305 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |