Tissue | Expression Dynamics | Abbreviation |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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 |
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 |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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:00614589 | Endometrium | AEH | reproductive system development | 88/2100 | 427/18723 | 9.50e-09 | 6.41e-07 | 88 |
GO:00486089 | Endometrium | AEH | reproductive structure development | 87/2100 | 424/18723 | 1.43e-08 | 9.12e-07 | 87 |
GO:004873216 | Endometrium | AEH | gland development | 83/2100 | 436/18723 | 8.62e-07 | 3.11e-05 | 83 |
GO:000915016 | Endometrium | AEH | purine ribonucleotide metabolic process | 68/2100 | 368/18723 | 2.26e-05 | 4.35e-04 | 68 |
GO:000616316 | Endometrium | AEH | purine nucleotide metabolic process | 70/2100 | 396/18723 | 7.46e-05 | 1.13e-03 | 70 |
GO:000925910 | Endometrium | AEH | ribonucleotide metabolic process | 68/2100 | 385/18723 | 9.63e-05 | 1.39e-03 | 68 |
GO:001969310 | Endometrium | AEH | ribose phosphate metabolic process | 69/2100 | 396/18723 | 1.31e-04 | 1.79e-03 | 69 |
GO:009730510 | Endometrium | AEH | response to alcohol | 48/2100 | 253/18723 | 1.80e-04 | 2.31e-03 | 48 |
GO:007252116 | Endometrium | AEH | purine-containing compound metabolic process | 71/2100 | 416/18723 | 2.01e-04 | 2.54e-03 | 71 |
GO:003166716 | Endometrium | AEH | response to nutrient levels | 78/2100 | 474/18723 | 3.26e-04 | 3.64e-03 | 78 |
GO:006100810 | Endometrium | AEH | hepaticobiliary system development | 31/2100 | 150/18723 | 5.41e-04 | 5.45e-03 | 31 |
GO:000911715 | Endometrium | AEH | nucleotide metabolic process | 78/2100 | 489/18723 | 8.39e-04 | 7.82e-03 | 78 |
GO:000675314 | Endometrium | AEH | nucleoside phosphate metabolic process | 78/2100 | 497/18723 | 1.34e-03 | 1.13e-02 | 78 |
GO:000188910 | Endometrium | AEH | liver development | 29/2100 | 147/18723 | 1.72e-03 | 1.38e-02 | 29 |
GO:000941010 | Endometrium | AEH | response to xenobiotic stimulus | 71/2100 | 462/18723 | 3.66e-03 | 2.50e-02 | 71 |
GO:00075482 | Endometrium | AEH | sex differentiation | 46/2100 | 276/18723 | 3.91e-03 | 2.64e-02 | 46 |
GO:000931410 | Endometrium | AEH | response to radiation | 70/2100 | 456/18723 | 3.99e-03 | 2.68e-02 | 70 |
GO:00451372 | Endometrium | AEH | development of primary sexual characteristics | 39/2100 | 227/18723 | 4.45e-03 | 2.92e-02 | 39 |
GO:00084062 | Endometrium | AEH | gonad development | 38/2100 | 221/18723 | 4.87e-03 | 3.08e-02 | 38 |
GO:001407414 | Endometrium | AEH | response to purine-containing compound | 27/2100 | 148/18723 | 7.34e-03 | 4.18e-02 | 27 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa009005 | Esophagus | ESCC | Terpenoid backbone biosynthesis | 20/4205 | 23/8465 | 2.14e-04 | 7.87e-04 | 4.03e-04 | 20 |
hsa002809 | Esophagus | ESCC | Valine, leucine and isoleucine degradation | 34/4205 | 48/8465 | 2.34e-03 | 6.54e-03 | 3.35e-03 | 34 |
hsa0090012 | Esophagus | ESCC | Terpenoid backbone biosynthesis | 20/4205 | 23/8465 | 2.14e-04 | 7.87e-04 | 4.03e-04 | 20 |
hsa0028014 | Esophagus | ESCC | Valine, leucine and isoleucine degradation | 34/4205 | 48/8465 | 2.34e-03 | 6.54e-03 | 3.35e-03 | 34 |
hsa0028021 | Liver | Cirrhotic | Valine, leucine and isoleucine degradation | 32/2530 | 48/8465 | 1.45e-07 | 2.02e-06 | 1.24e-06 | 32 |
hsa006502 | Liver | Cirrhotic | Butanoate metabolism | 15/2530 | 27/8465 | 4.71e-03 | 1.74e-02 | 1.07e-02 | 15 |
hsa0332021 | Liver | Cirrhotic | PPAR signaling pathway | 32/2530 | 75/8465 | 1.24e-02 | 3.92e-02 | 2.42e-02 | 32 |
hsa0028031 | Liver | Cirrhotic | Valine, leucine and isoleucine degradation | 32/2530 | 48/8465 | 1.45e-07 | 2.02e-06 | 1.24e-06 | 32 |
hsa006503 | Liver | Cirrhotic | Butanoate metabolism | 15/2530 | 27/8465 | 4.71e-03 | 1.74e-02 | 1.07e-02 | 15 |
hsa0332031 | Liver | Cirrhotic | PPAR signaling pathway | 32/2530 | 75/8465 | 1.24e-02 | 3.92e-02 | 2.42e-02 | 32 |
hsa0028041 | Liver | HCC | Valine, leucine and isoleucine degradation | 41/4020 | 48/8465 | 4.84e-08 | 7.05e-07 | 3.92e-07 | 41 |
hsa033204 | Liver | HCC | PPAR signaling pathway | 48/4020 | 75/8465 | 2.83e-03 | 9.37e-03 | 5.21e-03 | 48 |
hsa00900 | Liver | HCC | Terpenoid backbone biosynthesis | 17/4020 | 23/8465 | 9.26e-03 | 2.46e-02 | 1.37e-02 | 17 |
hsa006504 | Liver | HCC | Butanoate metabolism | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
hsa0028051 | Liver | HCC | Valine, leucine and isoleucine degradation | 41/4020 | 48/8465 | 4.84e-08 | 7.05e-07 | 3.92e-07 | 41 |
hsa033205 | Liver | HCC | PPAR signaling pathway | 48/4020 | 75/8465 | 2.83e-03 | 9.37e-03 | 5.21e-03 | 48 |
hsa009001 | Liver | HCC | Terpenoid backbone biosynthesis | 17/4020 | 23/8465 | 9.26e-03 | 2.46e-02 | 1.37e-02 | 17 |
hsa006505 | Liver | HCC | Butanoate metabolism | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
hsa009004 | Oral cavity | OSCC | Terpenoid backbone biosynthesis | 19/3704 | 23/8465 | 1.55e-04 | 5.34e-04 | 2.72e-04 | 19 |
hsa002808 | Oral cavity | OSCC | Valine, leucine and isoleucine degradation | 30/3704 | 48/8465 | 6.75e-03 | 1.57e-02 | 7.99e-03 | 30 |
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 |
HMGCS1 | SNV | Missense_Mutation | | c.1355C>T | p.Thr452Met | p.T452M | Q01581 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BS-A0TG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HMGCS1 | SNV | Missense_Mutation | novel | c.1511N>T | p.Pro504Leu | p.P504L | Q01581 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
HMGCS1 | SNV | Missense_Mutation | novel | c.295N>A | p.Asp99Asn | p.D99N | Q01581 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGCS1 | SNV | Missense_Mutation | novel | c.29N>G | p.Glu10Gly | p.E10G | Q01581 | protein_coding | tolerated(0.24) | benign(0.079) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
HMGCS1 | SNV | Missense_Mutation | rs748699156 | c.46N>T | p.Asp16Tyr | p.D16Y | Q01581 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HMGCS1 | SNV | Missense_Mutation | rs777747958 | c.692N>A | p.Arg231His | p.R231H | Q01581 | protein_coding | tolerated(0.2) | benign(0.003) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
HMGCS1 | insertion | Frame_Shift_Ins | novel | c.986_987insCCAT | p.Gln329HisfsTer60 | p.Q329Hfs*60 | Q01581 | protein_coding | | | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGCS1 | deletion | Frame_Shift_Del | novel | c.1277delN | p.Asn426ThrfsTer2 | p.N426Tfs*2 | Q01581 | protein_coding | | | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGCS1 | deletion | Frame_Shift_Del | novel | c.875delN | p.Asn292IlefsTer15 | p.N292Ifs*15 | Q01581 | protein_coding | | | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMGCS1 | SNV | Missense_Mutation | | c.127N>T | p.Asp43Tyr | p.D43Y | Q01581 | protein_coding | deleterious(0) | possibly_damaging(0.641) | TCGA-BC-A10Z-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |