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Gene: LRRC8E |
Gene summary for LRRC8E |
Gene summary. |
Gene information | Species | Human | Gene symbol | LRRC8E | Gene ID | 80131 |
Gene name | leucine rich repeat containing 8 VRAC subunit E | |
Gene Alias | LRRC8E | |
Cytomap | 19p13.2 | |
Gene Type | protein-coding | GO ID | GO:0001408 | UniProtAcc | Q6NSJ5 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
80131 | LRRC8E | LZE4T | Human | Esophagus | ESCC | 1.81e-02 | 1.33e-01 | 0.0811 |
80131 | LRRC8E | P2T-E | Human | Esophagus | ESCC | 1.71e-03 | 2.82e-02 | 0.1177 |
80131 | LRRC8E | P5T-E | Human | Esophagus | ESCC | 1.26e-07 | 2.03e-01 | 0.1327 |
80131 | LRRC8E | P8T-E | Human | Esophagus | ESCC | 1.67e-03 | 4.95e-02 | 0.0889 |
80131 | LRRC8E | P9T-E | Human | Esophagus | ESCC | 1.07e-07 | 3.24e-01 | 0.1131 |
80131 | LRRC8E | P12T-E | Human | Esophagus | ESCC | 1.45e-09 | 2.28e-01 | 0.1122 |
80131 | LRRC8E | P20T-E | Human | Esophagus | ESCC | 5.36e-10 | 3.51e-01 | 0.1124 |
80131 | LRRC8E | P21T-E | Human | Esophagus | ESCC | 2.03e-02 | 6.39e-02 | 0.1617 |
80131 | LRRC8E | P23T-E | Human | Esophagus | ESCC | 1.80e-03 | 2.13e-01 | 0.108 |
80131 | LRRC8E | P24T-E | Human | Esophagus | ESCC | 4.78e-06 | 1.52e-01 | 0.1287 |
80131 | LRRC8E | P26T-E | Human | Esophagus | ESCC | 4.34e-03 | 6.02e-02 | 0.1276 |
80131 | LRRC8E | P27T-E | Human | Esophagus | ESCC | 5.44e-06 | 1.59e-01 | 0.1055 |
80131 | LRRC8E | P28T-E | Human | Esophagus | ESCC | 3.29e-50 | 1.06e+00 | 0.1149 |
80131 | LRRC8E | P30T-E | Human | Esophagus | ESCC | 2.21e-07 | 3.88e-01 | 0.137 |
80131 | LRRC8E | P31T-E | Human | Esophagus | ESCC | 1.60e-41 | 7.99e-01 | 0.1251 |
80131 | LRRC8E | P36T-E | Human | Esophagus | ESCC | 1.14e-03 | 2.52e-01 | 0.1187 |
80131 | LRRC8E | P37T-E | Human | Esophagus | ESCC | 3.06e-07 | 1.25e-01 | 0.1371 |
80131 | LRRC8E | P42T-E | Human | Esophagus | ESCC | 1.74e-10 | 4.00e-01 | 0.1175 |
80131 | LRRC8E | P47T-E | Human | Esophagus | ESCC | 2.06e-02 | 8.40e-02 | 0.1067 |
80131 | LRRC8E | P48T-E | Human | Esophagus | ESCC | 2.51e-02 | 5.49e-02 | 0.0959 |
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Transcriptomic changes along malignancy continuum. |
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 |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0062197111 | Esophagus | ESCC | cellular response to chemical stress | 234/8552 | 337/18723 | 5.37e-19 | 5.97e-17 | 234 |
GO:001593117 | Esophagus | ESCC | nucleobase-containing compound transport | 162/8552 | 222/18723 | 9.87e-17 | 7.93e-15 | 162 |
GO:007121419 | Esophagus | ESCC | cellular response to abiotic stimulus | 206/8552 | 331/18723 | 7.52e-10 | 1.88e-08 | 206 |
GO:010400419 | Esophagus | ESCC | cellular response to environmental stimulus | 206/8552 | 331/18723 | 7.52e-10 | 1.88e-08 | 206 |
GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
GO:00069707 | Esophagus | ESCC | response to osmotic stress | 57/8552 | 84/18723 | 3.26e-05 | 2.70e-04 | 57 |
GO:00714707 | Esophagus | ESCC | cellular response to osmotic stress | 31/8552 | 41/18723 | 9.32e-05 | 6.68e-04 | 31 |
GO:00083619 | Esophagus | ESCC | regulation of cell size | 107/8552 | 181/18723 | 1.81e-04 | 1.16e-03 | 107 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
LRRC8E | SNV | Missense_Mutation | rs372027576 | c.1666N>A | p.Val556Ile | p.V556I | Q6NSJ5 | protein_coding | tolerated(0.21) | benign(0.121) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC8E | SNV | Missense_Mutation | novel | c.163N>G | p.Leu55Val | p.L55V | Q6NSJ5 | protein_coding | tolerated(0.06) | probably_damaging(0.999) | TCGA-AR-A2LN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
LRRC8E | SNV | Missense_Mutation | c.14N>T | p.Ala5Val | p.A5V | Q6NSJ5 | protein_coding | tolerated(0.05) | possibly_damaging(0.472) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
LRRC8E | insertion | Frame_Shift_Ins | novel | c.956_957insAAGAACAATTTGGACCTGCAGCAATACAGCTTTA | p.Phe319LeufsTer51 | p.F319Lfs*51 | Q6NSJ5 | protein_coding | TCGA-AN-A0FT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
LRRC8E | deletion | Frame_Shift_Del | novel | c.2076delN | p.Glu694ArgfsTer41 | p.E694Rfs*41 | Q6NSJ5 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
LRRC8E | SNV | Missense_Mutation | novel | c.587N>T | p.Gly196Val | p.G196V | Q6NSJ5 | protein_coding | tolerated(0.28) | benign(0.079) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
LRRC8E | SNV | Missense_Mutation | c.235G>A | p.Glu79Lys | p.E79K | Q6NSJ5 | protein_coding | tolerated(0.85) | benign(0) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
LRRC8E | SNV | Missense_Mutation | c.1037N>T | p.Ser346Phe | p.S346F | Q6NSJ5 | protein_coding | tolerated(0.62) | benign(0.003) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
LRRC8E | SNV | Missense_Mutation | novel | c.273N>T | p.Lys91Asn | p.K91N | Q6NSJ5 | protein_coding | tolerated(0.1) | probably_damaging(0.979) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
LRRC8E | SNV | Missense_Mutation | rs778982100 | c.1627N>T | p.Arg543Trp | p.R543W | Q6NSJ5 | protein_coding | deleterious(0.01) | benign(0.003) | TCGA-AA-3509-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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