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Gene: SPTBN1 |
Gene summary for SPTBN1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SPTBN1 | Gene ID | 6711 |
| Gene name | spectrin beta, non-erythrocytic 1 | |
| Gene Alias | DDISBA | |
| Cytomap | 2p16.2 | |
| Gene Type | protein-coding | GO ID | GO:0000278 | UniProtAcc | B2ZZ89 |
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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 |
| 6711 | SPTBN1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.17e-05 | -3.88e-01 | 0.0155 |
| 6711 | SPTBN1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.58e-04 | 5.93e-01 | -0.1808 |
| 6711 | SPTBN1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.47e-09 | 6.52e-01 | -0.0811 |
| 6711 | SPTBN1 | HTA11_78_2000001011 | Human | Colorectum | AD | 3.89e-02 | 4.68e-01 | -0.1088 |
| 6711 | SPTBN1 | HTA11_347_2000001011 | Human | Colorectum | AD | 3.87e-15 | 7.59e-01 | -0.1954 |
| 6711 | SPTBN1 | HTA11_411_2000001011 | Human | Colorectum | SER | 2.02e-07 | 1.33e+00 | -0.2602 |
| 6711 | SPTBN1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.03e-02 | 5.14e-01 | -0.059 |
| 6711 | SPTBN1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.40e-03 | 4.39e-01 | 0.294 |
| 6711 | SPTBN1 | A002-C-010 | Human | Colorectum | FAP | 9.37e-05 | -1.59e-01 | 0.242 |
| 6711 | SPTBN1 | A001-C-207 | Human | Colorectum | FAP | 2.58e-02 | -1.41e-01 | 0.1278 |
| 6711 | SPTBN1 | A015-C-203 | Human | Colorectum | FAP | 3.37e-33 | -3.84e-01 | -0.1294 |
| 6711 | SPTBN1 | A015-C-204 | Human | Colorectum | FAP | 6.13e-09 | -3.06e-01 | -0.0228 |
| 6711 | SPTBN1 | A014-C-040 | Human | Colorectum | FAP | 2.15e-03 | -3.21e-01 | -0.1184 |
| 6711 | SPTBN1 | A002-C-201 | Human | Colorectum | FAP | 1.61e-11 | -2.22e-01 | 0.0324 |
| 6711 | SPTBN1 | A002-C-203 | Human | Colorectum | FAP | 5.89e-03 | -1.66e-01 | 0.2786 |
| 6711 | SPTBN1 | A001-C-119 | Human | Colorectum | FAP | 1.10e-06 | -1.05e-01 | -0.1557 |
| 6711 | SPTBN1 | A001-C-108 | Human | Colorectum | FAP | 5.31e-20 | -6.14e-02 | -0.0272 |
| 6711 | SPTBN1 | A002-C-205 | Human | Colorectum | FAP | 8.24e-23 | -2.21e-01 | -0.1236 |
| 6711 | SPTBN1 | A001-C-104 | Human | Colorectum | FAP | 2.81e-04 | 1.13e-01 | 0.0184 |
| 6711 | SPTBN1 | A015-C-005 | Human | Colorectum | FAP | 3.44e-03 | -1.78e-01 | -0.0336 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
| GO:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
| GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
| GO:0032535 | Colorectum | AD | regulation of cellular component size | 142/3918 | 383/18723 | 1.74e-13 | 3.41e-11 | 142 |
| GO:1903829 | Colorectum | AD | positive regulation of cellular protein localization | 110/3918 | 276/18723 | 4.58e-13 | 8.44e-11 | 110 |
| GO:1902903 | Colorectum | AD | regulation of supramolecular fiber organization | 139/3918 | 383/18723 | 2.01e-12 | 3.19e-10 | 139 |
| GO:0032970 | Colorectum | AD | regulation of actin filament-based process | 142/3918 | 397/18723 | 4.05e-12 | 5.90e-10 | 142 |
| GO:0110053 | Colorectum | AD | regulation of actin filament organization | 108/3918 | 278/18723 | 5.02e-12 | 6.98e-10 | 108 |
| GO:0008154 | Colorectum | AD | actin polymerization or depolymerization | 90/3918 | 218/18723 | 6.14e-12 | 8.23e-10 | 90 |
| GO:0032271 | Colorectum | AD | regulation of protein polymerization | 94/3918 | 233/18723 | 1.01e-11 | 1.29e-09 | 94 |
| GO:0030041 | Colorectum | AD | actin filament polymerization | 81/3918 | 191/18723 | 1.35e-11 | 1.69e-09 | 81 |
| GO:0051258 | Colorectum | AD | protein polymerization | 112/3918 | 297/18723 | 1.85e-11 | 2.27e-09 | 112 |
| GO:0043254 | Colorectum | AD | regulation of protein-containing complex assembly | 148/3918 | 428/18723 | 2.64e-11 | 3.18e-09 | 148 |
| GO:0008064 | Colorectum | AD | regulation of actin polymerization or depolymerization | 79/3918 | 188/18723 | 4.17e-11 | 4.74e-09 | 79 |
| GO:0030833 | Colorectum | AD | regulation of actin filament polymerization | 74/3918 | 172/18723 | 4.50e-11 | 5.03e-09 | 74 |
| GO:0030832 | Colorectum | AD | regulation of actin filament length | 79/3918 | 189/18723 | 5.71e-11 | 6.27e-09 | 79 |
| GO:0090150 | Colorectum | AD | establishment of protein localization to membrane | 100/3918 | 260/18723 | 6.01e-11 | 6.33e-09 | 100 |
| GO:0032956 | Colorectum | AD | regulation of actin cytoskeleton organization | 127/3918 | 358/18723 | 1.03e-10 | 1.04e-08 | 127 |
| GO:0048193 | Colorectum | AD | Golgi vesicle transport | 109/3918 | 296/18723 | 1.80e-10 | 1.68e-08 | 109 |
| GO:1905475 | Colorectum | AD | regulation of protein localization to membrane | 73/3918 | 175/18723 | 3.37e-10 | 2.93e-08 | 73 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 |
| 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. |
| Page: 1 |
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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 |
| SPTBN1 | SNV | Missense_Mutation | c.4936G>A | p.Glu1646Lys | p.E1646K | Q01082 | protein_coding | tolerated(0.26) | benign(0.035) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD | |
| SPTBN1 | SNV | Missense_Mutation | c.124C>T | p.Arg42Trp | p.R42W | Q01082 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-A2-A0YT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | arimidex | SD | |
| SPTBN1 | SNV | Missense_Mutation | c.3680N>G | p.Ala1227Gly | p.A1227G | Q01082 | protein_coding | tolerated(0.9) | benign(0.006) | TCGA-AO-A124-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| SPTBN1 | SNV | Missense_Mutation | novel | c.3749N>G | p.Val1250Gly | p.V1250G | Q01082 | protein_coding | tolerated(0.05) | benign(0.315) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| SPTBN1 | SNV | Missense_Mutation | rs761483604 | c.4454N>G | p.Lys1485Arg | p.K1485R | Q01082 | protein_coding | tolerated(0.23) | benign(0.181) | TCGA-B6-A400-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| SPTBN1 | SNV | Missense_Mutation | c.6431N>T | p.Thr2144Met | p.T2144M | Q01082 | protein_coding | tolerated(0.1) | benign(0.068) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | |
| SPTBN1 | SNV | Missense_Mutation | c.3180G>C | p.Glu1060Asp | p.E1060D | Q01082 | protein_coding | tolerated(0.08) | possibly_damaging(0.737) | TCGA-BH-A18T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| SPTBN1 | SNV | Missense_Mutation | novel | c.4960N>C | p.Thr1654Pro | p.T1654P | Q01082 | protein_coding | deleterious(0.04) | possibly_damaging(0.511) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
| SPTBN1 | SNV | Missense_Mutation | c.1325N>C | p.Gln442Pro | p.Q442P | Q01082 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| SPTBN1 | insertion | Frame_Shift_Ins | novel | c.5112_5113insTGGAGAATCAGATGGAAGTG | p.Arg1705TrpfsTer163 | p.R1705Wfs*163 | Q01082 | protein_coding | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 |
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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 |
| 6711 | SPTBN1 | NA | ABT-413 |
| Page: 1 |
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