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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:00519608 | Thyroid | PTC | regulation of nervous system development | 177/5968 | 443/18723 | 1.72e-04 | 1.32e-03 | 177 |
GO:00717636 | Thyroid | PTC | nuclear membrane organization | 21/5968 | 33/18723 | 1.73e-04 | 1.32e-03 | 21 |
GO:00603486 | Thyroid | PTC | bone development | 90/5968 | 205/18723 | 1.89e-04 | 1.42e-03 | 90 |
GO:000808819 | Thyroid | PTC | axo-dendritic transport | 39/5968 | 75/18723 | 2.31e-04 | 1.67e-03 | 39 |
GO:00069985 | Thyroid | PTC | nuclear envelope organization | 27/5968 | 47/18723 | 2.57e-04 | 1.84e-03 | 27 |
GO:00991754 | Thyroid | PTC | regulation of postsynapse organization | 45/5968 | 90/18723 | 2.57e-04 | 1.84e-03 | 45 |
GO:00305167 | Thyroid | PTC | regulation of axon extension | 47/5968 | 95/18723 | 2.60e-04 | 1.86e-03 | 47 |
GO:00995187 | Thyroid | PTC | vesicle cytoskeletal trafficking | 38/5968 | 73/18723 | 2.69e-04 | 1.91e-03 | 38 |
GO:00109778 | Thyroid | PTC | negative regulation of neuron projection development | 63/5968 | 137/18723 | 3.70e-04 | 2.50e-03 | 63 |
GO:00310235 | Thyroid | PTC | microtubule organizing center organization | 65/5968 | 143/18723 | 4.48e-04 | 2.96e-03 | 65 |
GO:00507752 | Thyroid | PTC | positive regulation of dendrite morphogenesis | 22/5968 | 37/18723 | 4.92e-04 | 3.23e-03 | 22 |
GO:00613873 | Thyroid | PTC | regulation of extent of cell growth | 52/5968 | 110/18723 | 5.20e-04 | 3.37e-03 | 52 |
GO:006184210 | Thyroid | PTC | microtubule organizing center localization | 20/5968 | 33/18723 | 6.26e-04 | 3.96e-03 | 20 |
GO:00989305 | Thyroid | PTC | axonal transport | 33/5968 | 64/18723 | 8.26e-04 | 5.11e-03 | 33 |
GO:000725419 | Thyroid | PTC | JNK cascade | 73/5968 | 167/18723 | 8.41e-04 | 5.17e-03 | 73 |
GO:0070302110 | Thyroid | PTC | regulation of stress-activated protein kinase signaling cascade | 83/5968 | 195/18723 | 1.04e-03 | 6.21e-03 | 83 |
GO:005164210 | Thyroid | PTC | centrosome localization | 19/5968 | 32/18723 | 1.21e-03 | 6.94e-03 | 19 |
GO:004206315 | Thyroid | PTC | gliogenesis | 121/5968 | 301/18723 | 1.30e-03 | 7.41e-03 | 121 |
GO:00607597 | Thyroid | PTC | regulation of response to cytokine stimulus | 70/5968 | 162/18723 | 1.54e-03 | 8.58e-03 | 70 |
GO:0032872110 | Thyroid | PTC | regulation of stress-activated MAPK cascade | 81/5968 | 192/18723 | 1.62e-03 | 8.95e-03 | 81 |
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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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