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Gene: SV2A |
Gene summary for SV2A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SV2A | Gene ID | 9900 |
| Gene name | synaptic vesicle glycoprotein 2A | |
| Gene Alias | SV2 | |
| Cytomap | 1q21.2 | |
| Gene Type | protein-coding | GO ID | GO:0001505 | UniProtAcc | B4E000 |
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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 |
| 9900 | SV2A | P2T-E | Human | Esophagus | ESCC | 8.56e-12 | 2.38e-01 | 0.1177 |
| 9900 | SV2A | P4T-E | Human | Esophagus | ESCC | 4.98e-05 | 1.42e-01 | 0.1323 |
| 9900 | SV2A | P8T-E | Human | Esophagus | ESCC | 1.78e-03 | 7.58e-02 | 0.0889 |
| 9900 | SV2A | P10T-E | Human | Esophagus | ESCC | 1.13e-16 | 2.83e-01 | 0.116 |
| 9900 | SV2A | P12T-E | Human | Esophagus | ESCC | 4.17e-05 | 1.07e-01 | 0.1122 |
| 9900 | SV2A | P15T-E | Human | Esophagus | ESCC | 1.66e-08 | 2.45e-01 | 0.1149 |
| 9900 | SV2A | P16T-E | Human | Esophagus | ESCC | 9.02e-11 | 1.88e-01 | 0.1153 |
| 9900 | SV2A | P26T-E | Human | Esophagus | ESCC | 2.05e-07 | 1.52e-01 | 0.1276 |
| 9900 | SV2A | P27T-E | Human | Esophagus | ESCC | 1.66e-02 | 1.08e-01 | 0.1055 |
| 9900 | SV2A | P32T-E | Human | Esophagus | ESCC | 4.17e-05 | 1.04e-01 | 0.1666 |
| 9900 | SV2A | P49T-E | Human | Esophagus | ESCC | 7.16e-11 | 6.41e-01 | 0.1768 |
| 9900 | SV2A | P56T-E | Human | Esophagus | ESCC | 2.72e-04 | 5.95e-01 | 0.1613 |
| 9900 | SV2A | P57T-E | Human | Esophagus | ESCC | 3.50e-02 | 6.52e-02 | 0.0926 |
| 9900 | SV2A | P61T-E | Human | Esophagus | ESCC | 8.00e-04 | 1.65e-01 | 0.099 |
| 9900 | SV2A | P76T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.35e-01 | 0.1207 |
| 9900 | SV2A | P79T-E | Human | Esophagus | ESCC | 7.90e-03 | 8.24e-02 | 0.1154 |
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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 |
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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 |
| SV2A | SNV | Missense_Mutation | c.1456N>A | p.Val486Met | p.V486M | Q7L0J3 | protein_coding | tolerated(0.15) | benign(0.027) | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD | |
| SV2A | SNV | Missense_Mutation | c.274G>A | p.Glu92Lys | p.E92K | Q7L0J3 | protein_coding | deleterious(0) | probably_damaging(0.912) | TCGA-D8-A1JN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozolum | SD | |
| SV2A | SNV | Missense_Mutation | c.1361G>T | p.Trp454Leu | p.W454L | Q7L0J3 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-E9-A1NA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| SV2A | SNV | Missense_Mutation | novel | c.229G>T | p.Gly77Cys | p.G77C | Q7L0J3 | protein_coding | deleterious_low_confidence(0.01) | benign(0.095) | TCGA-GI-A2C8-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | Adriamycin | SD |
| SV2A | SNV | Missense_Mutation | c.488G>A | p.Arg163His | p.R163H | Q7L0J3 | protein_coding | deleterious(0.01) | probably_damaging(0.982) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| SV2A | SNV | Missense_Mutation | novel | c.586G>T | p.Asp196Tyr | p.D196Y | Q7L0J3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
| SV2A | SNV | Missense_Mutation | rs764888560 | c.1897G>A | p.Val633Met | p.V633M | Q7L0J3 | protein_coding | tolerated(0.06) | probably_damaging(0.928) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| SV2A | SNV | Missense_Mutation | rs781957523 | c.37N>T | p.Arg13Cys | p.R13C | Q7L0J3 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.634) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SV2A | SNV | Missense_Mutation | rs781948463 | c.913N>A | p.Val305Met | p.V305M | Q7L0J3 | protein_coding | deleterious(0.02) | possibly_damaging(0.833) | TCGA-AA-3956-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| SV2A | SNV | Missense_Mutation | rs782745503 | c.538G>A | p.Gly180Ser | p.G180S | Q7L0J3 | protein_coding | tolerated(0.08) | probably_damaging(0.98) | TCGA-AA-3976-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |
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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 |
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | Brivaracetam | BRIVARACETAM | ||
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | BRIVARACETAM | BRIVARACETAM | ||
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | modulator | CHEMBL1286 | LEVETIRACETAM | |
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | LEVETIRACETAM | LEVETIRACETAM | ||
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | modulator | CHEMBL607400 | BRIVARACETAM | |
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | SELETRACETAM | SELETRACETAM | ||
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | Levetiracetam | LEVETIRACETAM | ||
| 9900 | SV2A | DRUGGABLE GENOME, TRANSPORTER | INSULIN | INSULIN | 16306227 |
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