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Gene: FAM117A |
Gene summary for FAM117A |
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Gene information | Species | Human | Gene symbol | FAM117A | Gene ID | 81558 |
Gene name | family with sequence similarity 117 member A | |
Gene Alias | FAM117A | |
Cytomap | 17q21.33 | |
Gene Type | protein-coding | GO ID | NA | UniProtAcc | Q9C073 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
81558 | FAM117A | AEH-subject1 | Human | Endometrium | AEH | 1.22e-04 | 2.79e-01 | -0.3059 |
81558 | FAM117A | AEH-subject2 | Human | Endometrium | AEH | 1.63e-04 | 2.71e-01 | -0.2525 |
81558 | FAM117A | AEH-subject3 | Human | Endometrium | AEH | 1.04e-04 | 2.78e-01 | -0.2576 |
81558 | FAM117A | AEH-subject4 | Human | Endometrium | AEH | 5.34e-03 | 2.41e-01 | -0.2657 |
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Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![]() | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
∗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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
FAM117A | SNV | Missense_Mutation | rs377014256 | c.455N>A | p.Arg152Gln | p.R152Q | Q9C073 | protein_coding | tolerated(0.11) | benign(0.007) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FAM117A | SNV | Missense_Mutation | novel | c.1035N>T | p.Glu345Asp | p.E345D | Q9C073 | protein_coding | deleterious(0) | possibly_damaging(0.513) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
FAM117A | SNV | Missense_Mutation | rs199525619 | c.559N>T | p.Arg187Trp | p.R187W | Q9C073 | protein_coding | tolerated(0.2) | possibly_damaging(0.736) | TCGA-4R-AA8I-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
FAM117A | SNV | Missense_Mutation | novel | c.802N>T | p.Ala268Ser | p.A268S | Q9C073 | protein_coding | tolerated(1) | benign(0.003) | TCGA-05-4424-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Targeted Molecular therapy | erlotinib | SD |
FAM117A | SNV | Missense_Mutation | novel | c.1238G>A | p.Ser413Asn | p.S413N | Q9C073 | protein_coding | deleterious_low_confidence(0.04) | possibly_damaging(0.895) | TCGA-44-5644-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FAM117A | SNV | Missense_Mutation | c.431N>T | p.Ala144Val | p.A144V | Q9C073 | protein_coding | deleterious(0.02) | benign(0.187) | TCGA-55-7724-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FAM117A | SNV | Missense_Mutation | novel | c.494N>G | p.Thr165Arg | p.T165R | Q9C073 | protein_coding | tolerated(0.08) | probably_damaging(0.999) | TCGA-21-5783-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
FAM117A | SNV | Missense_Mutation | novel | c.552N>A | p.His184Gln | p.H184Q | Q9C073 | protein_coding | deleterious(0.03) | benign(0.437) | TCGA-22-1016-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
FAM117A | SNV | Missense_Mutation | novel | c.976N>T | p.Ala326Ser | p.A326S | Q9C073 | protein_coding | tolerated(1) | benign(0.001) | TCGA-37-4132-01 | Lung | lung squamous cell carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FAM117A | SNV | Missense_Mutation | c.224N>G | p.Glu75Gly | p.E75G | Q9C073 | protein_coding | deleterious(0.02) | benign(0.085) | TCGA-43-6143-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Other, specify in notesVaccine | recmage3-as+as15 | 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 |
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