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Gene: CFAP43 |
Gene summary for CFAP43 |
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Gene information | Species | Human | Gene symbol | CFAP43 | Gene ID | 80217 |
Gene name | cilia and flagella associated protein 43 | |
Gene Alias | C10orf79 | |
Cytomap | 10q25.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q8NDM7 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
80217 | CFAP43 | RNA-P6T1-P6T1-1 | Human | Lung | MIAC | 3.00e-03 | 7.11e-01 | -0.0238 |
80217 | CFAP43 | RNA-P6T1-P6T1-2 | Human | Lung | MIAC | 4.12e-03 | 6.71e-01 | -0.0186 |
80217 | CFAP43 | RNA-P6T1-P6T1-4 | Human | Lung | MIAC | 2.24e-04 | 6.83e-01 | -0.0263 |
80217 | CFAP43 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 3.12e-03 | 1.78e-01 | -0.0132 |
80217 | CFAP43 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 3.91e-04 | 1.97e-01 | -0.013 |
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Tissue | Expression Dynamics | Abbreviation |
Lung | ![]() | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ | ||
IAC: Invasive lung adenocarcinoma | ||
MIA: Minimally invasive adenocarcinoma |
∗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 |
GO:0007585 | Lung | IAC | respiratory gaseous exchange by respiratory system | 18/2061 | 68/18723 | 2.99e-04 | 4.82e-03 | 18 |
GO:0099111 | Lung | IAC | microtubule-based transport | 35/2061 | 190/18723 | 1.55e-03 | 1.64e-02 | 35 |
GO:0060271 | Lung | IAC | cilium assembly | 55/2061 | 337/18723 | 1.84e-03 | 1.88e-02 | 55 |
GO:0044782 | Lung | IAC | cilium organization | 58/2061 | 368/18723 | 3.15e-03 | 2.75e-02 | 58 |
GO:00602711 | Lung | MIAC | cilium assembly | 37/967 | 337/18723 | 1.29e-05 | 9.85e-04 | 37 |
GO:00447821 | Lung | MIAC | cilium organization | 38/967 | 368/18723 | 3.93e-05 | 2.08e-03 | 38 |
GO:00075853 | Lung | MIAC | respiratory gaseous exchange by respiratory system | 11/967 | 68/18723 | 6.76e-04 | 1.59e-02 | 11 |
GO:00328861 | Lung | MIAC | regulation of microtubule-based process | 23/967 | 240/18723 | 3.27e-03 | 4.31e-02 | 23 |
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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 |
CFAP43 | SNV | Missense_Mutation | novel | c.3187N>A | p.Gln1063Lys | p.Q1063K | Q8NDM7 | protein_coding | tolerated(0.05) | benign(0.318) | TCGA-5C-AAPD-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CFAP43 | SNV | Missense_Mutation | rs750109033 | c.4402N>T | p.Ile1468Leu | p.I1468L | Q8NDM7 | protein_coding | tolerated(0.15) | benign(0.006) | TCGA-CC-A7IK-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |
CFAP43 | SNV | Missense_Mutation | novel | c.2082N>G | p.Asp694Glu | p.D694E | Q8NDM7 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-NI-A8LF-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CFAP43 | SNV | Missense_Mutation | novel | c.2112N>A | p.Asp704Glu | p.D704E | Q8NDM7 | protein_coding | tolerated(0.52) | benign(0.01) | TCGA-RC-A6M6-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CFAP43 | SNV | Missense_Mutation | c.2481N>C | p.Glu827Asp | p.E827D | Q8NDM7 | protein_coding | tolerated(0.13) | benign(0.334) | TCGA-RG-A7D4-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
CFAP43 | SNV | Missense_Mutation | novel | c.2875N>A | p.Asp959Asn | p.D959N | Q8NDM7 | protein_coding | tolerated(0.09) | benign(0.022) | TCGA-05-4402-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
CFAP43 | SNV | Missense_Mutation | novel | c.1495T>C | p.Phe499Leu | p.F499L | Q8NDM7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-44-6145-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CFAP43 | SNV | Missense_Mutation | c.4763C>G | p.Ala1588Gly | p.A1588G | Q8NDM7 | protein_coding | tolerated(0.25) | benign(0.001) | TCGA-44-8120-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
CFAP43 | SNV | Missense_Mutation | c.3085N>T | p.Ala1029Ser | p.A1029S | Q8NDM7 | protein_coding | tolerated(0.25) | benign(0.262) | TCGA-49-AARQ-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CFAP43 | SNV | Missense_Mutation | c.4884G>A | p.Met1628Ile | p.M1628I | Q8NDM7 | protein_coding | tolerated(0.21) | benign(0.001) | TCGA-50-5068-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | taxol | PD |
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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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