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Gene: SPTBN2 |
Gene summary for SPTBN2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | SPTBN2 | Gene ID | 6712 |
Gene name | spectrin beta, non-erythrocytic 2 | |
Gene Alias | GTRAP41 | |
Cytomap | 11q13.2 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | O15020 |
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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 |
6712 | SPTBN2 | P37T-E | Human | Esophagus | ESCC | 3.65e-07 | 1.63e-01 | 0.1371 |
6712 | SPTBN2 | P42T-E | Human | Esophagus | ESCC | 2.30e-02 | 1.78e-01 | 0.1175 |
6712 | SPTBN2 | P47T-E | Human | Esophagus | ESCC | 5.79e-07 | 5.65e-02 | 0.1067 |
6712 | SPTBN2 | P48T-E | Human | Esophagus | ESCC | 1.11e-09 | 7.71e-02 | 0.0959 |
6712 | SPTBN2 | P49T-E | Human | Esophagus | ESCC | 9.38e-12 | 7.52e-01 | 0.1768 |
6712 | SPTBN2 | P52T-E | Human | Esophagus | ESCC | 1.11e-06 | 1.56e-01 | 0.1555 |
6712 | SPTBN2 | P54T-E | Human | Esophagus | ESCC | 1.17e-03 | 7.88e-02 | 0.0975 |
6712 | SPTBN2 | P57T-E | Human | Esophagus | ESCC | 1.45e-10 | 1.22e-01 | 0.0926 |
6712 | SPTBN2 | P61T-E | Human | Esophagus | ESCC | 4.61e-02 | 8.76e-02 | 0.099 |
6712 | SPTBN2 | P62T-E | Human | Esophagus | ESCC | 1.86e-07 | 8.01e-02 | 0.1302 |
6712 | SPTBN2 | P65T-E | Human | Esophagus | ESCC | 1.41e-06 | 1.68e-01 | 0.0978 |
6712 | SPTBN2 | P74T-E | Human | Esophagus | ESCC | 3.35e-09 | 2.51e-01 | 0.1479 |
6712 | SPTBN2 | P75T-E | Human | Esophagus | ESCC | 1.04e-29 | 6.22e-01 | 0.1125 |
6712 | SPTBN2 | P76T-E | Human | Esophagus | ESCC | 1.58e-10 | 9.99e-02 | 0.1207 |
6712 | SPTBN2 | P79T-E | Human | Esophagus | ESCC | 2.93e-02 | 9.31e-02 | 0.1154 |
6712 | SPTBN2 | P80T-E | Human | Esophagus | ESCC | 1.64e-03 | 1.37e-01 | 0.155 |
6712 | SPTBN2 | P82T-E | Human | Esophagus | ESCC | 1.70e-07 | 3.54e-01 | 0.1072 |
6712 | SPTBN2 | P83T-E | Human | Esophagus | ESCC | 9.44e-04 | 1.30e-01 | 0.1738 |
6712 | SPTBN2 | P107T-E | Human | Esophagus | ESCC | 2.25e-12 | 2.40e-01 | 0.171 |
6712 | SPTBN2 | P127T-E | Human | Esophagus | ESCC | 2.53e-05 | 9.56e-02 | 0.0826 |
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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:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
GO:0043254111 | Esophagus | ESCC | regulation of protein-containing complex assembly | 278/8552 | 428/18723 | 3.81e-16 | 2.77e-14 | 278 |
GO:003298416 | Esophagus | ESCC | protein-containing complex disassembly | 151/8552 | 224/18723 | 3.45e-11 | 1.15e-09 | 151 |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
GO:0051258111 | Esophagus | ESCC | protein polymerization | 183/8552 | 297/18723 | 1.94e-08 | 3.75e-07 | 183 |
GO:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
GO:0032271111 | Esophagus | ESCC | regulation of protein polymerization | 143/8552 | 233/18723 | 9.21e-07 | 1.17e-05 | 143 |
GO:011005327 | Esophagus | ESCC | regulation of actin filament organization | 166/8552 | 278/18723 | 1.54e-06 | 1.85e-05 | 166 |
GO:000815420 | Esophagus | ESCC | actin polymerization or depolymerization | 130/8552 | 218/18723 | 2.19e-05 | 1.88e-04 | 130 |
GO:0030041110 | Esophagus | ESCC | actin filament polymerization | 114/8552 | 191/18723 | 6.46e-05 | 4.92e-04 | 114 |
GO:000806419 | Esophagus | ESCC | regulation of actin polymerization or depolymerization | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:003083218 | Esophagus | ESCC | regulation of actin filament length | 112/8552 | 189/18723 | 1.13e-04 | 7.85e-04 | 112 |
GO:003083320 | Esophagus | ESCC | regulation of actin filament polymerization | 103/8552 | 172/18723 | 1.19e-04 | 8.15e-04 | 103 |
GO:0031333110 | Esophagus | ESCC | negative regulation of protein-containing complex assembly | 86/8552 | 141/18723 | 1.74e-04 | 1.14e-03 | 86 |
GO:00432446 | Esophagus | ESCC | regulation of protein-containing complex disassembly | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501728 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501736 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
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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 |
SPTBN2 | SNV | Missense_Mutation | novel | c.3797N>A | p.Ala1266Glu | p.A1266E | O15020 | protein_coding | tolerated(0.45) | possibly_damaging(0.506) | TCGA-A2-A4S2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR |
SPTBN2 | SNV | Missense_Mutation | novel | c.6376A>C | p.Thr2126Pro | p.T2126P | O15020 | protein_coding | tolerated(0.27) | benign(0.007) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
SPTBN2 | SNV | Missense_Mutation | c.6588N>C | p.Gln2196His | p.Q2196H | O15020 | protein_coding | tolerated(0.12) | benign(0.37) | TCGA-A8-A085-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
SPTBN2 | SNV | Missense_Mutation | novel | c.769N>A | p.Glu257Lys | p.E257K | O15020 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | rs754630453 | c.4525N>G | p.Pro1509Ala | p.P1509A | O15020 | protein_coding | tolerated(0.11) | possibly_damaging(0.768) | TCGA-AO-A0J8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SPTBN2 | SNV | Missense_Mutation | rs757828246 | c.6592N>G | p.Arg2198Gly | p.R2198G | O15020 | protein_coding | tolerated(0.19) | benign(0.017) | TCGA-AO-A1KO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
SPTBN2 | SNV | Missense_Mutation | rs754011198 | c.5926N>G | p.Arg1976Gly | p.R1976G | O15020 | protein_coding | deleterious(0.03) | benign(0.368) | TCGA-AO-A1KT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | SD |
SPTBN2 | SNV | Missense_Mutation | rs147422843 | c.1336N>T | p.Arg446Cys | p.R446C | O15020 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
SPTBN2 | SNV | Missense_Mutation | rs763501939 | c.4784G>A | p.Arg1595His | p.R1595H | O15020 | protein_coding | deleterious(0.05) | benign(0.013) | TCGA-AR-A24K-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
SPTBN2 | SNV | Missense_Mutation | novel | c.5954N>T | p.Ser1985Leu | p.S1985L | O15020 | protein_coding | deleterious(0.02) | benign(0.098) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | 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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