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Gene: PCDH19 |
Gene summary for PCDH19 |
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Gene information | Species | Human | Gene symbol | PCDH19 | Gene ID | 57526 |
Gene name | protocadherin 19 | |
Gene Alias | DEE9 | |
Cytomap | Xq22.1 | |
Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | B3KU71 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57526 | PCDH19 | LZE7T | Human | Esophagus | ESCC | 9.10e-14 | 8.70e-01 | 0.0667 |
57526 | PCDH19 | P2T-E | Human | Esophagus | ESCC | 2.96e-13 | 3.02e-01 | 0.1177 |
57526 | PCDH19 | P4T-E | Human | Esophagus | ESCC | 9.41e-09 | 2.81e-01 | 0.1323 |
57526 | PCDH19 | P5T-E | Human | Esophagus | ESCC | 1.29e-04 | 4.21e-02 | 0.1327 |
57526 | PCDH19 | P8T-E | Human | Esophagus | ESCC | 1.26e-03 | 1.47e-01 | 0.0889 |
57526 | PCDH19 | P9T-E | Human | Esophagus | ESCC | 3.26e-07 | 1.04e-01 | 0.1131 |
57526 | PCDH19 | P10T-E | Human | Esophagus | ESCC | 1.20e-11 | 1.81e-01 | 0.116 |
57526 | PCDH19 | P26T-E | Human | Esophagus | ESCC | 1.44e-35 | 7.81e-01 | 0.1276 |
57526 | PCDH19 | P27T-E | Human | Esophagus | ESCC | 3.28e-06 | 1.14e-01 | 0.1055 |
57526 | PCDH19 | P32T-E | Human | Esophagus | ESCC | 8.11e-04 | 1.96e-01 | 0.1666 |
57526 | PCDH19 | P39T-E | Human | Esophagus | ESCC | 3.90e-02 | 5.04e-02 | 0.0894 |
57526 | PCDH19 | P40T-E | Human | Esophagus | ESCC | 3.19e-03 | 9.95e-02 | 0.109 |
57526 | PCDH19 | P42T-E | Human | Esophagus | ESCC | 8.96e-05 | 9.83e-02 | 0.1175 |
57526 | PCDH19 | P47T-E | Human | Esophagus | ESCC | 1.85e-02 | 6.77e-02 | 0.1067 |
57526 | PCDH19 | P52T-E | Human | Esophagus | ESCC | 2.53e-03 | 8.85e-02 | 0.1555 |
57526 | PCDH19 | P74T-E | Human | Esophagus | ESCC | 1.56e-08 | 2.75e-01 | 0.1479 |
57526 | PCDH19 | P83T-E | Human | Esophagus | ESCC | 1.46e-05 | 1.94e-01 | 0.1738 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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 |
PCDH19 | deletion | Frame_Shift_Del | novel | c.3114delT | p.Val1039SerfsTer3 | p.V1039Sfs*3 | Q8TAB3 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
PCDH19 | SNV | Missense_Mutation | novel | c.3221C>G | p.Ser1074Cys | p.S1074C | Q8TAB3 | protein_coding | deleterious_low_confidence(0.02) | benign(0.186) | TCGA-C5-A8YQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
PCDH19 | SNV | Missense_Mutation | novel | c.1456N>A | p.Gly486Ser | p.G486S | Q8TAB3 | protein_coding | tolerated(0.17) | probably_damaging(1) | TCGA-C5-A901-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PCDH19 | SNV | Missense_Mutation | novel | c.629N>T | p.Ala210Val | p.A210V | Q8TAB3 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A907-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
PCDH19 | SNV | Missense_Mutation | novel | c.2027N>C | p.Asn676Thr | p.N676T | Q8TAB3 | protein_coding | deleterious(0.04) | probably_damaging(0.98) | TCGA-DG-A2KH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PCDH19 | SNV | Missense_Mutation | c.466N>G | p.Pro156Ala | p.P156A | Q8TAB3 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD | |
PCDH19 | SNV | Missense_Mutation | c.1478T>C | p.Val493Ala | p.V493A | Q8TAB3 | protein_coding | tolerated(0.13) | benign(0.046) | TCGA-EK-A2R7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
PCDH19 | SNV | Missense_Mutation | c.2728N>A | p.Glu910Lys | p.E910K | Q8TAB3 | protein_coding | tolerated(0.06) | probably_damaging(0.98) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
PCDH19 | SNV | Missense_Mutation | novel | c.445N>A | p.Pro149Thr | p.P149T | Q8TAB3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PCDH19 | SNV | Missense_Mutation | c.1615N>A | p.Gly539Ser | p.G539S | Q8TAB3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-LP-A4AU-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
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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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