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Gene: FAH |
Gene summary for FAH |
Gene summary. |
Gene information | Species | Human | Gene symbol | FAH | Gene ID | 2184 |
Gene name | fumarylacetoacetate hydrolase | |
Gene Alias | FAH | |
Cytomap | 15q25.1 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | P16930 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2184 | FAH | LZE4T | Human | Esophagus | ESCC | 3.38e-10 | 3.36e-01 | 0.0811 |
2184 | FAH | LZE7T | Human | Esophagus | ESCC | 1.79e-03 | 2.91e-01 | 0.0667 |
2184 | FAH | LZE24T | Human | Esophagus | ESCC | 1.13e-04 | 1.44e-01 | 0.0596 |
2184 | FAH | LZE6T | Human | Esophagus | ESCC | 1.26e-03 | 2.09e-01 | 0.0845 |
2184 | FAH | P1T-E | Human | Esophagus | ESCC | 4.53e-04 | 2.14e-01 | 0.0875 |
2184 | FAH | P2T-E | Human | Esophagus | ESCC | 1.38e-18 | 3.48e-01 | 0.1177 |
2184 | FAH | P4T-E | Human | Esophagus | ESCC | 1.93e-18 | 4.60e-01 | 0.1323 |
2184 | FAH | P5T-E | Human | Esophagus | ESCC | 1.34e-09 | 1.83e-01 | 0.1327 |
2184 | FAH | P8T-E | Human | Esophagus | ESCC | 3.44e-05 | 1.69e-01 | 0.0889 |
2184 | FAH | P9T-E | Human | Esophagus | ESCC | 1.38e-17 | 4.63e-01 | 0.1131 |
2184 | FAH | P10T-E | Human | Esophagus | ESCC | 2.77e-08 | 1.46e-01 | 0.116 |
2184 | FAH | P11T-E | Human | Esophagus | ESCC | 2.91e-06 | 2.67e-01 | 0.1426 |
2184 | FAH | P12T-E | Human | Esophagus | ESCC | 4.10e-10 | 2.21e-01 | 0.1122 |
2184 | FAH | P15T-E | Human | Esophagus | ESCC | 6.05e-13 | 3.24e-01 | 0.1149 |
2184 | FAH | P16T-E | Human | Esophagus | ESCC | 6.15e-21 | 4.04e-01 | 0.1153 |
2184 | FAH | P20T-E | Human | Esophagus | ESCC | 1.00e-02 | 6.14e-02 | 0.1124 |
2184 | FAH | P21T-E | Human | Esophagus | ESCC | 8.45e-16 | 3.08e-01 | 0.1617 |
2184 | FAH | P22T-E | Human | Esophagus | ESCC | 2.78e-28 | 4.38e-01 | 0.1236 |
2184 | FAH | P23T-E | Human | Esophagus | ESCC | 1.80e-10 | 3.42e-01 | 0.108 |
2184 | FAH | P24T-E | Human | Esophagus | ESCC | 6.49e-10 | 1.87e-01 | 0.1287 |
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Transcriptomic changes along malignancy continuum. |
∗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 |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00073466 | Cervix | CC | regulation of mitotic cell cycle | 88/2311 | 457/18723 | 1.26e-05 | 2.60e-04 | 88 |
GO:00609965 | Cervix | CC | dendritic spine development | 28/2311 | 99/18723 | 1.61e-05 | 3.15e-04 | 28 |
GO:00325359 | Cervix | CC | regulation of cellular component size | 76/2311 | 383/18723 | 1.66e-05 | 3.21e-04 | 76 |
GO:00615647 | Cervix | CC | axon development | 89/2311 | 467/18723 | 1.71e-05 | 3.27e-04 | 89 |
GO:00459316 | Cervix | CC | positive regulation of mitotic cell cycle | 32/2311 | 121/18723 | 1.88e-05 | 3.47e-04 | 32 |
GO:00025738 | Cervix | CC | myeloid leukocyte differentiation | 47/2311 | 208/18723 | 2.48e-05 | 4.27e-04 | 47 |
GO:00328727 | Cervix | CC | regulation of stress-activated MAPK cascade | 44/2311 | 192/18723 | 3.09e-05 | 5.10e-04 | 44 |
GO:00516567 | Cervix | CC | establishment of organelle localization | 76/2311 | 390/18723 | 3.17e-05 | 5.21e-04 | 76 |
GO:00107708 | Cervix | CC | positive regulation of cell morphogenesis involved in differentiation | 23/2311 | 79/18723 | 5.44e-05 | 8.04e-04 | 23 |
GO:002241110 | Cervix | CC | cellular component disassembly | 83/2311 | 443/18723 | 6.04e-05 | 8.68e-04 | 83 |
GO:00308657 | Cervix | CC | cortical cytoskeleton organization | 19/2311 | 61/18723 | 8.72e-05 | 1.16e-03 | 19 |
GO:00074097 | Cervix | CC | axonogenesis | 78/2311 | 418/18723 | 1.14e-04 | 1.43e-03 | 78 |
GO:00459277 | Cervix | CC | positive regulation of growth | 53/2311 | 259/18723 | 1.33e-04 | 1.64e-03 | 53 |
GO:00015588 | Cervix | CC | regulation of cell growth | 77/2311 | 414/18723 | 1.40e-04 | 1.70e-03 | 77 |
GO:00459955 | Cervix | CC | regulation of embryonic development | 19/2311 | 64/18723 | 1.78e-04 | 2.09e-03 | 19 |
GO:00609984 | Cervix | CC | regulation of dendritic spine development | 18/2311 | 61/18723 | 2.84e-04 | 3.07e-03 | 18 |
GO:00192213 | Cervix | CC | cytokine-mediated signaling pathway | 84/2311 | 472/18723 | 3.25e-04 | 3.44e-03 | 84 |
GO:000206410 | Cervix | CC | epithelial cell development | 45/2311 | 220/18723 | 4.14e-04 | 4.21e-03 | 45 |
GO:00303077 | Cervix | CC | positive regulation of cell growth | 36/2311 | 166/18723 | 4.84e-04 | 4.75e-03 | 36 |
GO:00507705 | Cervix | CC | regulation of axonogenesis | 34/2311 | 154/18723 | 4.87e-04 | 4.76e-03 | 34 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
FAH | SNV | Missense_Mutation | rs147946196 | c.391C>T | p.Arg131Trp | p.R131W | P16930 | protein_coding | tolerated(0.08) | benign(0.009) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
FAH | insertion | Frame_Shift_Ins | novel | c.470_471insCCAA | p.Gly158GlnfsTer27 | p.G158Qfs*27 | P16930 | protein_coding | TCGA-B6-A0IC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
FAH | SNV | Missense_Mutation | novel | c.1237N>A | p.Leu413Met | p.L413M | P16930 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FAH | SNV | Missense_Mutation | novel | c.805N>G | p.Leu269Val | p.L269V | P16930 | protein_coding | deleterious(0) | possibly_damaging(0.756) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
FAH | SNV | Missense_Mutation | c.638N>C | p.Gly213Ala | p.G213A | P16930 | protein_coding | deleterious(0.01) | possibly_damaging(0.79) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
FAH | SNV | Missense_Mutation | rs143243347 | c.412N>A | p.Gly138Arg | p.G138R | P16930 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EK-A2RB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
FAH | SNV | Missense_Mutation | rs777899653 | c.307N>T | p.Arg103Trp | p.R103W | P16930 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FAH | SNV | Missense_Mutation | c.68C>G | p.Ser23Trp | p.S23W | P16930 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
FAH | SNV | Missense_Mutation | c.347N>G | p.His116Arg | p.H116R | P16930 | protein_coding | deleterious(0.03) | possibly_damaging(0.88) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
FAH | SNV | Missense_Mutation | novel | c.226N>A | p.Ala76Thr | p.A76T | P16930 | protein_coding | tolerated(0.24) | benign(0.003) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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