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Gene: FAHD1 |
Gene summary for FAHD1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | FAHD1 | Gene ID | 81889 |
Gene name | fumarylacetoacetate hydrolase domain containing 1 | |
Gene Alias | C16orf36 | |
Cytomap | 16p13.3 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q6P587 |
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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 |
81889 | FAHD1 | LZE4T | Human | Esophagus | ESCC | 1.27e-05 | 2.19e-01 | 0.0811 |
81889 | FAHD1 | LZE7T | Human | Esophagus | ESCC | 5.13e-05 | 3.71e-01 | 0.0667 |
81889 | FAHD1 | LZE8T | Human | Esophagus | ESCC | 1.26e-03 | 2.09e-02 | 0.067 |
81889 | FAHD1 | LZE24T | Human | Esophagus | ESCC | 2.33e-13 | 1.82e-01 | 0.0596 |
81889 | FAHD1 | LZE6T | Human | Esophagus | ESCC | 1.66e-02 | 3.70e-02 | 0.0845 |
81889 | FAHD1 | P1T-E | Human | Esophagus | ESCC | 2.56e-03 | 2.47e-01 | 0.0875 |
81889 | FAHD1 | P2T-E | Human | Esophagus | ESCC | 1.21e-37 | 6.13e-01 | 0.1177 |
81889 | FAHD1 | P4T-E | Human | Esophagus | ESCC | 9.51e-29 | 8.19e-01 | 0.1323 |
81889 | FAHD1 | P5T-E | Human | Esophagus | ESCC | 7.15e-10 | 2.44e-01 | 0.1327 |
81889 | FAHD1 | P8T-E | Human | Esophagus | ESCC | 7.99e-14 | 2.11e-01 | 0.0889 |
81889 | FAHD1 | P9T-E | Human | Esophagus | ESCC | 5.47e-08 | 1.91e-01 | 0.1131 |
81889 | FAHD1 | P10T-E | Human | Esophagus | ESCC | 4.95e-15 | 7.52e-02 | 0.116 |
81889 | FAHD1 | P11T-E | Human | Esophagus | ESCC | 5.91e-14 | 3.68e-01 | 0.1426 |
81889 | FAHD1 | P12T-E | Human | Esophagus | ESCC | 1.28e-32 | 6.61e-01 | 0.1122 |
81889 | FAHD1 | P15T-E | Human | Esophagus | ESCC | 1.13e-22 | 4.90e-01 | 0.1149 |
81889 | FAHD1 | P16T-E | Human | Esophagus | ESCC | 4.56e-12 | 1.92e-01 | 0.1153 |
81889 | FAHD1 | P17T-E | Human | Esophagus | ESCC | 4.38e-11 | 3.87e-01 | 0.1278 |
81889 | FAHD1 | P20T-E | Human | Esophagus | ESCC | 1.63e-14 | 2.87e-01 | 0.1124 |
81889 | FAHD1 | P21T-E | Human | Esophagus | ESCC | 1.72e-24 | 4.84e-01 | 0.1617 |
81889 | FAHD1 | P22T-E | Human | Esophagus | ESCC | 1.82e-32 | 5.41e-01 | 0.1236 |
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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 |
Cervix | N_HPV | |
Endometrium | AEH | |
Endometrium | EEC | |
Prostate | BPH | |
Prostate | Tumor |
∗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 |
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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 |
FAHD1 | SNV | Missense_Mutation | novel | c.339N>C | p.Lys113Asn | p.K113N | Q6P587 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-E9-A3QA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FAHD1 | SNV | Missense_Mutation | rs751170172 | c.170N>T | p.Ser57Leu | p.S57L | Q6P587 | protein_coding | deleterious(0.05) | benign(0.097) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
FAHD1 | SNV | Missense_Mutation | c.481N>A | p.Glu161Lys | p.E161K | Q6P587 | protein_coding | tolerated(0.2) | benign(0) | TCGA-VS-A9UC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
FAHD1 | deletion | Frame_Shift_Del | c.497delN | p.Ser168ProfsTer13 | p.S168Pfs*13 | Q6P587 | protein_coding | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
FAHD1 | SNV | Missense_Mutation | novel | c.398C>T | p.Ala133Val | p.A133V | Q6P587 | protein_coding | tolerated(0.19) | benign(0.175) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FAHD1 | SNV | Missense_Mutation | novel | c.448C>T | p.Leu150Phe | p.L150F | Q6P587 | protein_coding | deleterious(0.01) | possibly_damaging(0.848) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FAHD1 | SNV | Missense_Mutation | novel | c.728N>T | p.Pro243Leu | p.P243L | Q6P587 | protein_coding | deleterious_low_confidence(0.01) | benign(0.012) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
FAHD1 | SNV | Missense_Mutation | c.428C>A | p.Pro143His | p.P143H | Q6P587 | protein_coding | deleterious(0.01) | probably_damaging(0.912) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FAHD1 | SNV | Missense_Mutation | novel | c.293C>T | p.Ala98Val | p.A98V | Q6P587 | protein_coding | tolerated(0.16) | benign(0.044) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
FAHD1 | deletion | Frame_Shift_Del | novel | c.41delN | p.Glu15SerfsTer25 | p.E15Sfs*25 | Q6P587 | protein_coding | TCGA-AJ-A2QO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=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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