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Gene: FH |
Gene summary for FH |
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Gene information | Species | Human | Gene symbol | FH | Gene ID | 2271 |
Gene name | fumarate hydratase | |
Gene Alias | FMRD | |
Cytomap | 1q43 | |
Gene Type | protein-coding | GO ID | GO:0001659 | UniProtAcc | A0A0S2Z4C3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2271 | FH | HTA11_347_2000001011 | Human | Colorectum | AD | 1.58e-06 | 3.01e-01 | -0.1954 |
2271 | FH | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.12e-02 | 4.79e-01 | -0.1706 |
2271 | FH | A002-C-205 | Human | Colorectum | FAP | 4.94e-02 | -1.06e-01 | -0.1236 |
2271 | FH | A002-C-116 | Human | Colorectum | FAP | 3.61e-02 | -9.86e-02 | -0.0452 |
2271 | FH | LZE4T | Human | Esophagus | ESCC | 6.44e-07 | 1.96e-01 | 0.0811 |
2271 | FH | LZE7T | Human | Esophagus | ESCC | 4.81e-09 | 7.61e-01 | 0.0667 |
2271 | FH | LZE8T | Human | Esophagus | ESCC | 2.37e-02 | 1.35e-01 | 0.067 |
2271 | FH | LZE22T | Human | Esophagus | ESCC | 6.37e-07 | 2.85e-01 | 0.068 |
2271 | FH | LZE24T | Human | Esophagus | ESCC | 8.09e-10 | 3.08e-01 | 0.0596 |
2271 | FH | LZE21T | Human | Esophagus | ESCC | 3.77e-04 | 2.13e-01 | 0.0655 |
2271 | FH | LZE6T | Human | Esophagus | ESCC | 3.76e-06 | 1.05e-01 | 0.0845 |
2271 | FH | P1T-E | Human | Esophagus | ESCC | 5.79e-10 | 3.64e-01 | 0.0875 |
2271 | FH | P2T-E | Human | Esophagus | ESCC | 3.96e-37 | 8.23e-01 | 0.1177 |
2271 | FH | P4T-E | Human | Esophagus | ESCC | 1.64e-22 | 4.99e-01 | 0.1323 |
2271 | FH | P5T-E | Human | Esophagus | ESCC | 8.71e-43 | 9.22e-01 | 0.1327 |
2271 | FH | P8T-E | Human | Esophagus | ESCC | 6.70e-18 | 2.65e-01 | 0.0889 |
2271 | FH | P9T-E | Human | Esophagus | ESCC | 7.31e-25 | 5.49e-01 | 0.1131 |
2271 | FH | P10T-E | Human | Esophagus | ESCC | 3.37e-23 | 3.57e-01 | 0.116 |
2271 | FH | P11T-E | Human | Esophagus | ESCC | 1.77e-19 | 8.35e-01 | 0.1426 |
2271 | FH | P12T-E | Human | Esophagus | ESCC | 1.01e-25 | 4.56e-01 | 0.1122 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0032874 | Colorectum | FAP | positive regulation of stress-activated MAPK cascade | 30/2622 | 126/18723 | 2.13e-03 | 1.76e-02 | 30 |
GO:0048016 | Colorectum | FAP | inositol phosphate-mediated signaling | 16/2622 | 55/18723 | 2.78e-03 | 2.15e-02 | 16 |
GO:00436481 | Colorectum | FAP | dicarboxylic acid metabolic process | 24/2622 | 96/18723 | 2.88e-03 | 2.20e-02 | 24 |
GO:00458614 | Colorectum | FAP | negative regulation of proteolysis | 68/2622 | 351/18723 | 3.07e-03 | 2.31e-02 | 68 |
GO:0001659 | Colorectum | FAP | temperature homeostasis | 38/2622 | 174/18723 | 3.16e-03 | 2.36e-02 | 38 |
GO:00611364 | Colorectum | FAP | regulation of proteasomal protein catabolic process | 40/2622 | 187/18723 | 3.69e-03 | 2.62e-02 | 40 |
GO:0032922 | Colorectum | FAP | circadian regulation of gene expression | 18/2622 | 68/18723 | 4.83e-03 | 3.25e-02 | 18 |
GO:01061061 | Colorectum | FAP | cold-induced thermogenesis | 32/2622 | 144/18723 | 4.85e-03 | 3.25e-02 | 32 |
GO:01201611 | Colorectum | FAP | regulation of cold-induced thermogenesis | 32/2622 | 144/18723 | 4.85e-03 | 3.25e-02 | 32 |
GO:19908451 | Colorectum | FAP | adaptive thermogenesis | 34/2622 | 157/18723 | 5.77e-03 | 3.69e-02 | 34 |
GO:0055006 | Colorectum | FAP | cardiac cell development | 22/2622 | 91/18723 | 6.44e-03 | 4.01e-02 | 22 |
GO:00324354 | Colorectum | FAP | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 11/2622 | 35/18723 | 6.53e-03 | 4.05e-02 | 11 |
GO:01201621 | Colorectum | FAP | positive regulation of cold-induced thermogenesis | 23/2622 | 97/18723 | 6.95e-03 | 4.26e-02 | 23 |
GO:0038066 | Colorectum | FAP | p38MAPK cascade | 15/2622 | 55/18723 | 7.19e-03 | 4.38e-02 | 15 |
GO:0003205 | Colorectum | FAP | cardiac chamber development | 34/2622 | 161/18723 | 8.57e-03 | 4.96e-02 | 34 |
GO:0003206 | Colorectum | FAP | cardiac chamber morphogenesis | 27/2622 | 121/18723 | 8.64e-03 | 4.98e-02 | 27 |
GO:00421765 | Colorectum | CRC | regulation of protein catabolic process | 87/2078 | 391/18723 | 1.30e-10 | 6.49e-08 | 87 |
GO:00098955 | Colorectum | CRC | negative regulation of catabolic process | 75/2078 | 320/18723 | 2.02e-10 | 9.31e-08 | 75 |
GO:00313305 | Colorectum | CRC | negative regulation of cellular catabolic process | 61/2078 | 262/18723 | 1.27e-08 | 2.54e-06 | 61 |
GO:00485114 | Colorectum | CRC | rhythmic process | 64/2078 | 298/18723 | 1.43e-07 | 1.62e-05 | 64 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa01200 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa00620 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa00020 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa05211 | Colorectum | AD | Renal cell carcinoma | 28/2092 | 69/8465 | 2.58e-03 | 1.37e-02 | 8.75e-03 | 28 |
hsa012001 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa006201 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa000201 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa052111 | Colorectum | AD | Renal cell carcinoma | 28/2092 | 69/8465 | 2.58e-03 | 1.37e-02 | 8.75e-03 | 28 |
hsa006202 | Colorectum | SER | Pyruvate metabolism | 22/1580 | 47/8465 | 9.62e-06 | 1.33e-04 | 9.67e-05 | 22 |
hsa000202 | Colorectum | SER | Citrate cycle (TCA cycle) | 16/1580 | 30/8465 | 2.06e-05 | 2.74e-04 | 1.99e-04 | 16 |
hsa012002 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa006203 | Colorectum | SER | Pyruvate metabolism | 22/1580 | 47/8465 | 9.62e-06 | 1.33e-04 | 9.67e-05 | 22 |
hsa000203 | Colorectum | SER | Citrate cycle (TCA cycle) | 16/1580 | 30/8465 | 2.06e-05 | 2.74e-04 | 1.99e-04 | 16 |
hsa012003 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa012006 | Colorectum | FAP | Carbon metabolism | 38/1404 | 115/8465 | 1.04e-05 | 1.44e-04 | 8.76e-05 | 38 |
hsa012007 | Colorectum | FAP | Carbon metabolism | 38/1404 | 115/8465 | 1.04e-05 | 1.44e-04 | 8.76e-05 | 38 |
hsa0002014 | Esophagus | ESCC | Citrate cycle (TCA cycle) | 27/4205 | 30/8465 | 3.48e-06 | 1.94e-05 | 9.95e-06 | 27 |
hsa0120023 | Esophagus | ESCC | Carbon metabolism | 79/4205 | 115/8465 | 2.50e-05 | 1.21e-04 | 6.22e-05 | 79 |
hsa0521118 | Esophagus | ESCC | Renal cell carcinoma | 51/4205 | 69/8465 | 3.29e-05 | 1.53e-04 | 7.83e-05 | 51 |
hsa0062023 | Esophagus | ESCC | Pyruvate metabolism | 32/4205 | 47/8465 | 8.11e-03 | 1.94e-02 | 9.94e-03 | 32 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 |
FH | SNV | Missense_Mutation | novel | c.345G>T | p.Lys115Asn | p.K115N | P07954 | protein_coding | tolerated(0.1) | benign(0.044) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FH | SNV | Missense_Mutation | c.848N>C | p.Leu283Ser | p.L283S | P07954 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FH | SNV | Missense_Mutation | novel | c.442C>G | p.Gln148Glu | p.Q148E | P07954 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-C8-A3M7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
FH | SNV | Missense_Mutation | c.778N>G | p.Thr260Ala | p.T260A | P07954 | protein_coding | tolerated(0.77) | benign(0) | TCGA-E9-A1RC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD | |
FH | insertion | Nonsense_Mutation | novel | c.467_468insAGGTCACTAAACCCTGCCTGCATTCCAGGCACTGTATTTC | p.Ile157GlyfsTer3 | p.I157Gfs*3 | P07954 | protein_coding | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
FH | SNV | Missense_Mutation | novel | c.625C>T | p.Pro209Ser | p.P209S | P07954 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FH | SNV | Missense_Mutation | rs778578307 | c.227N>T | p.Thr76Met | p.T76M | P07954 | protein_coding | tolerated(0.05) | benign(0.026) | TCGA-JW-A69B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
FH | SNV | Missense_Mutation | c.359N>A | p.Ile120Lys | p.I120K | P07954 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FH | SNV | Missense_Mutation | rs755449276 | c.953N>G | p.His318Arg | p.H318R | P07954 | protein_coding | tolerated(0.08) | benign(0.145) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
FH | SNV | Missense_Mutation | c.307N>A | p.Ala103Thr | p.A103T | P07954 | protein_coding | deleterious(0.02) | probably_damaging(0.972) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2271 | FH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | DIETHYLDITHIOCARBAMATE | DITIOCARB | 1850448 |
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