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Gene: SPTBN2 |
Gene summary for SPTBN2 |
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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 |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6712 | SPTBN2 | LZE2T | Human | Esophagus | ESCC | 2.09e-03 | 3.46e-01 | 0.082 |
6712 | SPTBN2 | LZE20T | Human | Esophagus | ESCC | 1.17e-04 | 1.81e-01 | 0.0662 |
6712 | SPTBN2 | LZE24T | Human | Esophagus | ESCC | 5.93e-05 | 1.41e-01 | 0.0596 |
6712 | SPTBN2 | P2T-E | Human | Esophagus | ESCC | 1.41e-07 | 9.96e-02 | 0.1177 |
6712 | SPTBN2 | P4T-E | Human | Esophagus | ESCC | 7.68e-05 | 1.47e-01 | 0.1323 |
6712 | SPTBN2 | P5T-E | Human | Esophagus | ESCC | 8.28e-08 | 7.07e-02 | 0.1327 |
6712 | SPTBN2 | P8T-E | Human | Esophagus | ESCC | 9.49e-23 | 4.37e-01 | 0.0889 |
6712 | SPTBN2 | P10T-E | Human | Esophagus | ESCC | 1.69e-03 | 4.64e-02 | 0.116 |
6712 | SPTBN2 | P12T-E | Human | Esophagus | ESCC | 1.71e-05 | 1.23e-01 | 0.1122 |
6712 | SPTBN2 | P15T-E | Human | Esophagus | ESCC | 2.74e-08 | 2.03e-01 | 0.1149 |
6712 | SPTBN2 | P16T-E | Human | Esophagus | ESCC | 2.65e-02 | 6.05e-02 | 0.1153 |
6712 | SPTBN2 | P20T-E | Human | Esophagus | ESCC | 2.38e-05 | 9.18e-02 | 0.1124 |
6712 | SPTBN2 | P21T-E | Human | Esophagus | ESCC | 3.89e-07 | 1.20e-01 | 0.1617 |
6712 | SPTBN2 | P22T-E | Human | Esophagus | ESCC | 4.41e-04 | 6.02e-02 | 0.1236 |
6712 | SPTBN2 | P26T-E | Human | Esophagus | ESCC | 4.08e-04 | 5.28e-02 | 0.1276 |
6712 | SPTBN2 | P27T-E | Human | Esophagus | ESCC | 5.56e-03 | 3.79e-02 | 0.1055 |
6712 | SPTBN2 | P28T-E | Human | Esophagus | ESCC | 1.19e-12 | 2.40e-01 | 0.1149 |
6712 | SPTBN2 | P30T-E | Human | Esophagus | ESCC | 2.96e-12 | 3.27e-01 | 0.137 |
6712 | SPTBN2 | P31T-E | Human | Esophagus | ESCC | 1.86e-12 | 2.02e-01 | 0.1251 |
6712 | SPTBN2 | P36T-E | Human | Esophagus | ESCC | 3.94e-07 | 2.21e-01 | 0.1187 |
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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 |
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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: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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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 |
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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 |
SPTBN2 | SNV | Missense_Mutation | novel | c.3445G>A | p.Ala1149Thr | p.A1149T | O15020 | protein_coding | deleterious(0.02) | possibly_damaging(0.74) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | rs750035387 | c.3973N>A | p.Glu1325Lys | p.E1325K | O15020 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
SPTBN2 | SNV | Missense_Mutation | c.1513N>T | p.Arg505Trp | p.R505W | O15020 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
SPTBN2 | SNV | Missense_Mutation | rs376230007 | c.2215C>T | p.Arg739Cys | p.R739C | O15020 | protein_coding | deleterious(0.01) | possibly_damaging(0.534) | TCGA-VS-A9UI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | novel | c.520G>A | p.Glu174Lys | p.E174K | O15020 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-ZJ-AAXU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SPTBN2 | insertion | Frame_Shift_Ins | novel | c.6544_6545insTCTG | p.Arg2182IlefsTer108 | p.R2182Ifs*108 | O15020 | protein_coding | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD | ||
SPTBN2 | SNV | Missense_Mutation | rs145750214 | c.5804N>A | p.Arg1935His | p.R1935H | O15020 | protein_coding | deleterious(0) | possibly_damaging(0.871) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
SPTBN2 | SNV | Missense_Mutation | rs767999498 | c.2903N>T | p.Thr968Met | p.T968M | O15020 | protein_coding | deleterious(0.04) | possibly_damaging(0.803) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | novel | c.1703N>G | p.Asp568Gly | p.D568G | O15020 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | c.2077C>T | p.Arg693Trp | p.R693W | O15020 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-A6-5661-01 | 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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