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Gene: PTCH2 |
Gene summary for PTCH2 |
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Gene information | Species | Human | Gene symbol | PTCH2 | Gene ID | 8643 |
Gene name | patched 2 | |
Gene Alias | PTC2 | |
Cytomap | 1p34.1 | |
Gene Type | protein-coding | GO ID | GO:0001558 | UniProtAcc | Q9Y6C5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
8643 | PTCH2 | PTC04 | Human | Thyroid | PTC | 5.67e-05 | 1.12e-01 | 0.1927 |
8643 | PTCH2 | ATC13 | Human | Thyroid | ATC | 6.42e-71 | 1.30e+00 | 0.34 |
8643 | PTCH2 | ATC5 | Human | Thyroid | ATC | 1.96e-77 | 1.36e+00 | 0.34 |
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Tissue | Expression Dynamics | Abbreviation |
Thyroid | ![]() | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis | ||
PTC: Papillary thyroid 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 |
GO:0016049112 | Thyroid | PTC | cell growth | 225/5968 | 482/18723 | 4.75e-12 | 2.07e-10 | 225 |
GO:0001558111 | Thyroid | PTC | regulation of cell growth | 188/5968 | 414/18723 | 4.13e-09 | 1.09e-07 | 188 |
GO:0045879 | Thyroid | PTC | negative regulation of smoothened signaling pathway | 17/5968 | 32/18723 | 1.02e-02 | 4.11e-02 | 17 |
GO:001604927 | Thyroid | ATC | cell growth | 241/6293 | 482/18723 | 4.27e-14 | 2.35e-12 | 241 |
GO:000155826 | Thyroid | ATC | regulation of cell growth | 201/6293 | 414/18723 | 1.57e-10 | 4.76e-09 | 201 |
GO:00458791 | Thyroid | ATC | negative regulation of smoothened signaling pathway | 20/6293 | 32/18723 | 7.67e-04 | 4.24e-03 | 20 |
GO:0008589 | Thyroid | ATC | regulation of smoothened signaling pathway | 40/6293 | 81/18723 | 2.36e-03 | 1.10e-02 | 40 |
GO:0007224 | Thyroid | ATC | smoothened signaling pathway | 60/6293 | 138/18723 | 9.75e-03 | 3.57e-02 | 60 |
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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 |
PTCH2 | SNV | Missense_Mutation | c.1528N>C | p.Met510Leu | p.M510L | Q9Y6C5 | protein_coding | tolerated(0.22) | benign(0.006) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PTCH2 | SNV | Missense_Mutation | novel | c.439N>T | p.Val147Leu | p.V147L | Q9Y6C5 | protein_coding | deleterious(0.01) | possibly_damaging(0.829) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PTCH2 | SNV | Missense_Mutation | rs200815526 | c.1489N>T | p.Arg497Cys | p.R497C | Q9Y6C5 | protein_coding | deleterious(0.03) | possibly_damaging(0.788) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PTCH2 | SNV | Missense_Mutation | novel | c.1283N>T | p.Ala428Val | p.A428V | Q9Y6C5 | protein_coding | tolerated(0.06) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PTCH2 | SNV | Missense_Mutation | rs779863570 | c.997N>T | p.Arg333Trp | p.R333W | Q9Y6C5 | protein_coding | deleterious(0.03) | probably_damaging(0.976) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PTCH2 | SNV | Missense_Mutation | novel | c.187N>A | p.Leu63Met | p.L63M | Q9Y6C5 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PTCH2 | SNV | Missense_Mutation | rs200366479 | c.703N>T | p.Arg235Trp | p.R235W | Q9Y6C5 | protein_coding | deleterious(0) | probably_damaging(0.952) | TCGA-AX-A1C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PTCH2 | SNV | Missense_Mutation | rs144561012 | c.2803N>A | p.Ala935Thr | p.A935T | Q9Y6C5 | protein_coding | tolerated(0.43) | benign(0.005) | TCGA-AX-A2H8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PTCH2 | SNV | Missense_Mutation | novel | c.809G>T | p.Arg270Met | p.R270M | Q9Y6C5 | protein_coding | tolerated(0.06) | benign(0.264) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PTCH2 | SNV | Missense_Mutation | novel | c.403C>T | p.His135Tyr | p.H135Y | Q9Y6C5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid 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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