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:00068051 | Stomach | CAG with IM | xenobiotic metabolic process | 15/1050 | 111/18723 | 1.34e-03 | 1.57e-02 | 15 |
GO:001583311 | Stomach | CAG with IM | peptide transport | 27/1050 | 264/18723 | 1.92e-03 | 2.02e-02 | 27 |
GO:00459951 | Stomach | CAG with IM | regulation of embryonic development | 10/1050 | 64/18723 | 2.82e-03 | 2.69e-02 | 10 |
GO:003007311 | Stomach | CAG with IM | insulin secretion | 21/1050 | 195/18723 | 3.17e-03 | 2.95e-02 | 21 |
GO:000941021 | Stomach | CSG | response to xenobiotic stimulus | 53/1034 | 462/18723 | 3.69e-07 | 2.22e-05 | 53 |
GO:004206021 | Stomach | CSG | wound healing | 49/1034 | 422/18723 | 7.12e-07 | 3.77e-05 | 49 |
GO:003428421 | Stomach | CSG | response to monosaccharide | 31/1034 | 225/18723 | 2.46e-06 | 1.09e-04 | 31 |
GO:000974321 | Stomach | CSG | response to carbohydrate | 33/1034 | 253/18723 | 3.99e-06 | 1.63e-04 | 33 |
GO:000974621 | Stomach | CSG | response to hexose | 30/1034 | 219/18723 | 4.01e-06 | 1.63e-04 | 30 |
GO:000974921 | Stomach | CSG | response to glucose | 28/1034 | 212/18723 | 1.66e-05 | 5.15e-04 | 28 |
GO:000206421 | Stomach | CSG | epithelial cell development | 28/1034 | 220/18723 | 3.30e-05 | 9.05e-04 | 28 |
GO:004259321 | Stomach | CSG | glucose homeostasis | 30/1034 | 258/18723 | 9.62e-05 | 2.18e-03 | 30 |
GO:003350021 | Stomach | CSG | carbohydrate homeostasis | 30/1034 | 259/18723 | 1.03e-04 | 2.28e-03 | 30 |
GO:004873221 | Stomach | CSG | gland development | 43/1034 | 436/18723 | 1.70e-04 | 3.33e-03 | 43 |
GO:000188921 | Stomach | CSG | liver development | 19/1034 | 147/18723 | 4.78e-04 | 7.42e-03 | 19 |
GO:006100821 | Stomach | CSG | hepaticobiliary system development | 19/1034 | 150/18723 | 6.16e-04 | 8.96e-03 | 19 |
GO:003052221 | Stomach | CSG | intracellular receptor signaling pathway | 28/1034 | 265/18723 | 7.73e-04 | 1.06e-02 | 28 |
GO:007169221 | Stomach | CSG | protein localization to extracellular region | 35/1034 | 368/18723 | 1.25e-03 | 1.50e-02 | 35 |
GO:000930621 | Stomach | CSG | protein secretion | 34/1034 | 359/18723 | 1.57e-03 | 1.75e-02 | 34 |
GO:003559221 | Stomach | CSG | establishment of protein localization to extracellular region | 34/1034 | 360/18723 | 1.64e-03 | 1.81e-02 | 34 |
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 |
HNF4A | SNV | Missense_Mutation | | c.454N>T | p.Ile152Phe | p.I152F | P41235 | protein_coding | deleterious(0.02) | benign(0.048) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
HNF4A | SNV | Missense_Mutation | | c.186C>G | p.Ile62Met | p.I62M | P41235 | protein_coding | deleterious(0) | probably_damaging(0.926) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HNF4A | SNV | Missense_Mutation | | c.337N>G | p.Arg113Gly | p.R113G | P41235 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
HNF4A | insertion | Nonsense_Mutation | novel | c.645_646insGTGCAGTGGCACAGTCACAGTTCACTGTAGCCTCAACCTCCTGGGCT | p.Gln216ValfsTer10 | p.Q216Vfs*10 | P41235 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
HNF4A | insertion | Frame_Shift_Ins | novel | c.687_688insATGGTGAAACCCCGTCTCTA | p.Leu230MetfsTer23 | p.L230Mfs*23 | P41235 | protein_coding | | | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HNF4A | SNV | Missense_Mutation | novel | c.478N>T | p.Val160Phe | p.V160F | P41235 | protein_coding | tolerated(0.05) | benign(0.036) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HNF4A | SNV | Missense_Mutation | rs376906221 | c.172G>A | p.Ala58Thr | p.A58T | P41235 | protein_coding | tolerated(0.48) | benign(0.003) | TCGA-C5-A1BJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HNF4A | SNV | Missense_Mutation | | c.1198N>G | p.Thr400Ala | p.T400A | P41235 | protein_coding | tolerated(0.82) | benign(0.028) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HNF4A | SNV | Missense_Mutation | rs377476335 | c.388N>A | p.Val130Ile | p.V130I | P41235 | protein_coding | tolerated(0.07) | benign(0.134) | TCGA-FU-A3TX-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
HNF4A | SNV | Missense_Mutation | | c.1288C>T | p.Pro430Ser | p.P430S | P41235 | protein_coding | deleterious_low_confidence(0.03) | benign(0.012) | TCGA-AA-3693-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | UREA | UREA | 8167573 |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | MEDICATION | | 16456494 |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | ALPHA INTERFERON | CETUXIMAB | 8777337 |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | TESTOSTERONE | TESTOSTERONE | 9260906 |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | INSULIN | INSULIN | 8945471,8712800 |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | GNF-PF-1947 | CHEMBL585591 | |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | NSC-39249 | CHEMBL482792 | |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | lamotrigine | LAMOTRIGINE | 27610747,26213157 |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | ROSIGLITAZONE | ROSIGLITAZONE | 15998575 |
3172 | HNF4A | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, NUCLEAR HORMONE RECEPTOR | | ALBUMIN | ALBUMIN HUMAN | 8788167 |