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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:00723329 | Cervix | CC | intrinsic apoptotic signaling pathway by p53 class mediator | 23/2311 | 76/18723 | 2.76e-05 | 4.60e-04 | 23 |
GO:00434104 | Cervix | CC | positive regulation of MAPK cascade | 90/2311 | 480/18723 | 2.92e-05 | 4.83e-04 | 90 |
GO:00328727 | Cervix | CC | regulation of stress-activated MAPK cascade | 44/2311 | 192/18723 | 3.09e-05 | 5.10e-04 | 44 |
GO:00507273 | Cervix | CC | regulation of inflammatory response | 75/2311 | 386/18723 | 3.95e-05 | 6.18e-04 | 75 |
GO:19030519 | Cervix | CC | negative regulation of proteolysis involved in cellular protein catabolic process | 20/2311 | 64/18723 | 5.44e-05 | 8.04e-04 | 20 |
GO:007233110 | Cervix | CC | signal transduction by p53 class mediator | 38/2311 | 163/18723 | 7.06e-05 | 9.85e-04 | 38 |
GO:00022212 | Cervix | CC | pattern recognition receptor signaling pathway | 39/2311 | 172/18723 | 1.08e-04 | 1.38e-03 | 39 |
GO:004217710 | Cervix | CC | negative regulation of protein catabolic process | 30/2311 | 121/18723 | 1.23e-04 | 1.53e-03 | 30 |
GO:200005910 | Cervix | CC | negative regulation of ubiquitin-dependent protein catabolic process | 16/2311 | 48/18723 | 1.27e-04 | 1.58e-03 | 16 |
GO:00622073 | Cervix | CC | regulation of pattern recognition receptor signaling pathway | 27/2311 | 105/18723 | 1.37e-04 | 1.68e-03 | 27 |
GO:003530310 | Cervix | CC | regulation of dephosphorylation | 31/2311 | 128/18723 | 1.52e-04 | 1.83e-03 | 31 |
GO:003530410 | Cervix | CC | regulation of protein dephosphorylation | 24/2311 | 90/18723 | 1.73e-04 | 2.04e-03 | 24 |
GO:00380664 | Cervix | CC | p38MAPK cascade | 17/2311 | 55/18723 | 2.25e-04 | 2.54e-03 | 17 |
GO:00467008 | Cervix | CC | heterocycle catabolic process | 80/2311 | 445/18723 | 3.23e-04 | 3.42e-03 | 80 |
GO:00346559 | Cervix | CC | nucleobase-containing compound catabolic process | 74/2311 | 407/18723 | 3.77e-04 | 3.88e-03 | 74 |
GO:19001808 | Cervix | CC | regulation of protein localization to nucleus | 31/2311 | 136/18723 | 4.76e-04 | 4.69e-03 | 31 |
GO:00518964 | Cervix | CC | regulation of protein kinase B signaling | 39/2311 | 185/18723 | 5.25e-04 | 5.10e-03 | 39 |
GO:00518973 | Cervix | CC | positive regulation of protein kinase B signaling | 28/2311 | 120/18723 | 5.90e-04 | 5.59e-03 | 28 |
GO:00434913 | Cervix | CC | protein kinase B signaling | 43/2311 | 211/18723 | 5.95e-04 | 5.60e-03 | 43 |
GO:00321022 | Cervix | CC | negative regulation of response to external stimulus | 75/2311 | 420/18723 | 5.96e-04 | 5.61e-03 | 75 |
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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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