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Gene: BEST1 |
Gene summary for BEST1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | BEST1 | Gene ID | 7439 |
Gene name | bestrophin 1 | |
Gene Alias | ARB | |
Cytomap | 11q12.3 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | O76090 |
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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 |
7439 | BEST1 | C21 | Human | Oral cavity | OSCC | 8.29e-05 | 2.37e-01 | 0.2678 |
7439 | BEST1 | C51 | Human | Oral cavity | OSCC | 1.56e-08 | 4.17e-01 | 0.2674 |
7439 | BEST1 | C57 | Human | Oral cavity | OSCC | 3.08e-10 | 3.48e-01 | 0.1679 |
7439 | BEST1 | C07 | Human | Oral cavity | OSCC | 2.15e-08 | 9.37e-01 | 0.2491 |
7439 | BEST1 | C08 | Human | Oral cavity | OSCC | 3.13e-25 | 5.93e-01 | 0.1919 |
7439 | BEST1 | C09 | Human | Oral cavity | OSCC | 5.52e-11 | 4.05e-01 | 0.1431 |
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Transcriptomic changes along malignancy continuum. |
Tissue | Expression Dynamics | Abbreviation |
Oral Cavity | EOLP: Erosive Oral lichen planus | |
LP: leukoplakia | ||
NEOLP: Non-erosive oral lichen planus | ||
OSCC: Oral squamous cell carcinoma |
∗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:000931416 | Oral cavity | OSCC | response to radiation | 241/7305 | 456/18723 | 9.76e-10 | 2.40e-08 | 241 |
GO:00094164 | Oral cavity | OSCC | response to light stimulus | 159/7305 | 320/18723 | 5.98e-05 | 4.92e-04 | 159 |
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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 |
BEST1 | SNV | Missense_Mutation | c.1372N>A | p.Glu458Lys | p.E458K | O76090 | protein_coding | tolerated_low_confidence(0.37) | benign(0.005) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
BEST1 | SNV | Missense_Mutation | novel | c.865N>A | p.Ala289Thr | p.A289T | O76090 | protein_coding | deleterious(0.05) | probably_damaging(0.913) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
BEST1 | SNV | Missense_Mutation | c.7N>C | p.Glu3Gln | p.E3Q | O76090 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
BEST1 | SNV | Missense_Mutation | c.247N>A | p.Val83Ile | p.V83I | O76090 | protein_coding | tolerated(0.38) | benign(0.04) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BEST1 | SNV | Missense_Mutation | rs267606679 | c.524N>C | p.Val175Ala | p.V175A | O76090 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
BEST1 | SNV | Missense_Mutation | novel | c.859T>A | p.Tyr287Asn | p.Y287N | O76090 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3842-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folinic | PD |
BEST1 | SNV | Missense_Mutation | rs281865239 | c.473N>A | p.Arg158His | p.R158H | O76090 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
BEST1 | SNV | Missense_Mutation | rs137853901 | c.1748N>T | p.Ser583Leu | p.S583L | O76090 | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
BEST1 | SNV | Missense_Mutation | c.1172A>T | p.Asp391Val | p.D391V | O76090 | protein_coding | deleterious(0) | possibly_damaging(0.731) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
BEST1 | SNV | Missense_Mutation | rs571740954 | c.1687C>T | p.Arg563Cys | p.R563C | O76090 | protein_coding | tolerated_low_confidence(0.15) | benign(0) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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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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