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Gene: BEST2 |
Gene summary for BEST2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | BEST2 | Gene ID | 54831 |
Gene name | bestrophin 2 | |
Gene Alias | VMD2L1 | |
Cytomap | 19p13.13 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q8NFU1 |
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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 |
54831 | BEST2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.33e-12 | 7.08e-01 | -0.1207 |
54831 | BEST2 | HTA11_696_2000001011 | Human | Colorectum | AD | 7.11e-14 | 3.01e-01 | -0.1464 |
54831 | BEST2 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.63e-02 | 1.78e-01 | -0.1001 |
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Transcriptomic changes along malignancy continuum. |
∗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:0015698 | Colorectum | AD | inorganic anion transport | 52/3918 | 180/18723 | 6.83e-03 | 4.22e-02 | 52 |
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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 |
BEST2 | SNV | Missense_Mutation | c.503G>A | p.Arg168His | p.R168H | Q8NFU1 | protein_coding | tolerated(0.25) | benign(0.108) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
BEST2 | SNV | Missense_Mutation | novel | c.934G>A | p.Asp312Asn | p.D312N | Q8NFU1 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
BEST2 | SNV | Missense_Mutation | c.272N>G | p.Asn91Ser | p.N91S | Q8NFU1 | protein_coding | tolerated(0.26) | benign(0.007) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
BEST2 | SNV | Missense_Mutation | rs768418645 | c.166N>A | p.Glu56Lys | p.E56K | Q8NFU1 | protein_coding | tolerated(0.08) | benign(0.232) | TCGA-D5-6534-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BEST2 | SNV | Missense_Mutation | c.640N>A | p.Leu214Met | p.L214M | Q8NFU1 | protein_coding | tolerated(0.46) | possibly_damaging(0.579) | TCGA-CL-5918-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BEST2 | SNV | Missense_Mutation | novel | c.934G>A | p.Asp312Asn | p.D312N | Q8NFU1 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BEST2 | SNV | Missense_Mutation | novel | c.934G>A | p.Asp312Asn | p.D312N | Q8NFU1 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-A5-A0GG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BEST2 | SNV | Missense_Mutation | novel | c.377N>A | p.Arg126His | p.R126H | Q8NFU1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
BEST2 | SNV | Missense_Mutation | c.721A>G | p.Thr241Ala | p.T241A | Q8NFU1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
BEST2 | SNV | Missense_Mutation | novel | c.677A>G | p.His226Arg | p.H226R | Q8NFU1 | protein_coding | tolerated(0.11) | possibly_damaging(0.786) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | 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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