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Gene: BEST2 |
Gene summary for BEST2 |
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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 |
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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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∗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:0015698 | Colorectum | AD | inorganic anion transport | 52/3918 | 180/18723 | 6.83e-03 | 4.22e-02 | 52 |
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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 |
BEST2 | SNV | Missense_Mutation | c.1014G>C | p.Trp338Cys | p.W338C | Q8NFU1 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | ||
BEST2 | SNV | Missense_Mutation | rs778596981 | c.409N>C | p.Val137Leu | p.V137L | Q8NFU1 | protein_coding | tolerated(0.37) | benign(0.173) | TCGA-A8-A081-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BEST2 | SNV | Missense_Mutation | rs768418645 | c.166G>A | p.Glu56Lys | p.E56K | Q8NFU1 | protein_coding | tolerated(0.08) | benign(0.232) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
BEST2 | SNV | Missense_Mutation | novel | c.1397N>T | p.Ala466Val | p.A466V | Q8NFU1 | protein_coding | tolerated_low_confidence(0.27) | benign(0.012) | TCGA-PL-A8LZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
BEST2 | SNV | Missense_Mutation | novel | c.1009N>C | p.Tyr337His | p.Y337H | Q8NFU1 | protein_coding | deleterious(0.02) | benign(0.411) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BEST2 | SNV | Missense_Mutation | c.564N>A | p.Phe188Leu | p.F188L | Q8NFU1 | protein_coding | deleterious(0.02) | probably_damaging(0.983) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
BEST2 | SNV | Missense_Mutation | c.1318N>A | p.Glu440Lys | p.E440K | Q8NFU1 | protein_coding | tolerated(0.17) | benign(0.04) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
BEST2 | SNV | Missense_Mutation | novel | c.874N>C | p.Glu292Gln | p.E292Q | Q8NFU1 | protein_coding | deleterious(0.01) | possibly_damaging(0.71) | TCGA-VS-A9UC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
BEST2 | SNV | Missense_Mutation | c.775N>A | p.Asp259Asn | p.D259N | Q8NFU1 | protein_coding | tolerated(0.23) | benign(0.147) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
BEST2 | SNV | Missense_Mutation | novel | c.1081N>A | p.Gln361Lys | p.Q361K | Q8NFU1 | protein_coding | tolerated(0.18) | benign(0.031) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | 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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