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Gene: PTCHD4 |
Gene summary for PTCHD4 |
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Gene information | Species | Human | Gene symbol | PTCHD4 | Gene ID | 442213 |
Gene name | patched domain containing 4 | |
Gene Alias | C6orf138 | |
Cytomap | 6p12.3 | |
Gene Type | protein-coding | GO ID | GO:0008150 | UniProtAcc | Q6ZW05 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
442213 | PTCHD4 | RNA-P23T2-P23T2-1 | Human | Lung | MIAC | 2.13e-03 | 6.69e-01 | -0.037 |
442213 | PTCHD4 | RNA-P23T2-P23T2-4 | Human | Lung | MIAC | 3.47e-02 | 7.53e-01 | -0.0272 |
442213 | PTCHD4 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 1.55e-07 | 4.22e-01 | -0.2116 |
442213 | PTCHD4 | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.01e-09 | 5.86e-01 | -0.2119 |
442213 | PTCHD4 | RNA-P6T1-P6T1-4 | Human | Lung | MIAC | 5.54e-03 | 5.55e-01 | -0.0263 |
442213 | PTCHD4 | RNA-P7T1-P7T1-1 | Human | Lung | AIS | 1.36e-03 | 4.92e-01 | -0.0961 |
442213 | PTCHD4 | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 1.46e-05 | 5.49e-01 | -0.0876 |
442213 | PTCHD4 | RNA-P7T1-P7T1-3 | Human | Lung | AIS | 5.60e-06 | 6.46e-01 | -0.0822 |
442213 | PTCHD4 | RNA-P7T1-P7T1-4 | Human | Lung | AIS | 6.36e-10 | 7.41e-01 | -0.0809 |
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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 |
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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 |
PTCHD4 | SNV | Missense_Mutation | c.246N>C | p.Lys82Asn | p.K82N | Q6ZW05 | protein_coding | deleterious(0) | possibly_damaging(0.644) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD | |
PTCHD4 | SNV | Missense_Mutation | rs375648873 | c.901N>A | p.Ala301Thr | p.A301T | Q6ZW05 | protein_coding | tolerated(0.27) | possibly_damaging(0.817) | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PTCHD4 | SNV | Missense_Mutation | novel | c.2460G>C | p.Lys820Asn | p.K820N | Q6ZW05 | protein_coding | tolerated(0.08) | probably_damaging(0.987) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PTCHD4 | SNV | Missense_Mutation | novel | c.2277N>G | p.Ile759Met | p.I759M | Q6ZW05 | protein_coding | deleterious(0.02) | probably_damaging(0.991) | TCGA-AR-A0U2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
PTCHD4 | SNV | Missense_Mutation | novel | c.2276N>G | p.Ile759Ser | p.I759S | Q6ZW05 | protein_coding | tolerated(0.16) | probably_damaging(0.933) | TCGA-AR-A0U2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
PTCHD4 | SNV | Missense_Mutation | c.310N>C | p.Asp104His | p.D104H | Q6ZW05 | protein_coding | tolerated(0.06) | probably_damaging(0.949) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
PTCHD4 | SNV | Missense_Mutation | c.606A>G | p.Ile202Met | p.I202M | Q6ZW05 | protein_coding | tolerated(1) | benign(0.003) | TCGA-BH-A0C0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD | |
PTCHD4 | SNV | Missense_Mutation | c.236N>A | p.Ser79Asn | p.S79N | Q6ZW05 | protein_coding | tolerated(0.06) | possibly_damaging(0.543) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
PTCHD4 | SNV | Missense_Mutation | rs143420847 | c.776G>A | p.Arg259His | p.R259H | Q6ZW05 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-OL-A66J-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PTCHD4 | deletion | Frame_Shift_Del | c.280delN | p.Leu94TrpfsTer21 | p.L94Wfs*21 | Q6ZW05 | protein_coding | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | 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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