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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 | P23T-E | Human | Esophagus | ESCC | 1.35e-20 | 3.97e-01 | 0.108 |
81889 | FAHD1 | P24T-E | Human | Esophagus | ESCC | 3.01e-18 | 4.13e-01 | 0.1287 |
81889 | FAHD1 | P26T-E | Human | Esophagus | ESCC | 2.05e-30 | 5.26e-01 | 0.1276 |
81889 | FAHD1 | P27T-E | Human | Esophagus | ESCC | 5.18e-17 | 2.25e-01 | 0.1055 |
81889 | FAHD1 | P28T-E | Human | Esophagus | ESCC | 1.91e-32 | 6.49e-01 | 0.1149 |
81889 | FAHD1 | P30T-E | Human | Esophagus | ESCC | 2.48e-24 | 8.49e-01 | 0.137 |
81889 | FAHD1 | P31T-E | Human | Esophagus | ESCC | 1.59e-15 | 2.38e-01 | 0.1251 |
81889 | FAHD1 | P32T-E | Human | Esophagus | ESCC | 1.55e-29 | 5.21e-01 | 0.1666 |
81889 | FAHD1 | P36T-E | Human | Esophagus | ESCC | 7.93e-11 | 5.05e-01 | 0.1187 |
81889 | FAHD1 | P37T-E | Human | Esophagus | ESCC | 1.16e-17 | 2.77e-01 | 0.1371 |
81889 | FAHD1 | P39T-E | Human | Esophagus | ESCC | 3.42e-10 | 8.24e-02 | 0.0894 |
81889 | FAHD1 | P40T-E | Human | Esophagus | ESCC | 1.07e-05 | 1.07e-01 | 0.109 |
81889 | FAHD1 | P42T-E | Human | Esophagus | ESCC | 8.54e-11 | 3.15e-01 | 0.1175 |
81889 | FAHD1 | P44T-E | Human | Esophagus | ESCC | 7.58e-08 | 2.08e-01 | 0.1096 |
81889 | FAHD1 | P47T-E | Human | Esophagus | ESCC | 1.04e-08 | 1.65e-01 | 0.1067 |
81889 | FAHD1 | P48T-E | Human | Esophagus | ESCC | 5.63e-15 | 3.01e-01 | 0.0959 |
81889 | FAHD1 | P49T-E | Human | Esophagus | ESCC | 1.99e-08 | 7.85e-01 | 0.1768 |
81889 | FAHD1 | P52T-E | Human | Esophagus | ESCC | 2.91e-35 | 6.83e-01 | 0.1555 |
81889 | FAHD1 | P54T-E | Human | Esophagus | ESCC | 1.70e-12 | 1.52e-01 | 0.0975 |
81889 | FAHD1 | P57T-E | Human | Esophagus | ESCC | 3.98e-10 | 1.73e-01 | 0.0926 |
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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 |
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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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