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Gene: NEB |
Gene summary for NEB |
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Gene information | Species | Human | Gene symbol | NEB | Gene ID | 4703 |
Gene name | nebulin | |
Gene Alias | AMC6 | |
Cytomap | 2q23.3 | |
Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | P20929 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4703 | NEB | HCC1_Meng | Human | Liver | HCC | 2.18e-19 | 8.18e-02 | 0.0246 |
4703 | NEB | HCC1 | Human | Liver | HCC | 3.11e-04 | 3.86e+00 | 0.5336 |
4703 | NEB | HCC2 | Human | Liver | HCC | 5.69e-12 | 2.46e+00 | 0.5341 |
4703 | NEB | S027 | Human | Liver | HCC | 5.88e-04 | 4.49e-01 | 0.2446 |
4703 | NEB | S028 | Human | Liver | HCC | 5.12e-11 | 4.92e-01 | 0.2503 |
4703 | NEB | S029 | Human | Liver | HCC | 6.27e-04 | 2.96e-01 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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:006053724 | Thyroid | ATC | muscle tissue development | 181/6293 | 403/18723 | 1.27e-06 | 1.62e-05 | 181 |
GO:003103226 | Thyroid | ATC | actomyosin structure organization | 98/6293 | 196/18723 | 1.44e-06 | 1.77e-05 | 98 |
GO:001470622 | Thyroid | ATC | striated muscle tissue development | 168/6293 | 384/18723 | 1.91e-05 | 1.73e-04 | 168 |
GO:004269216 | Thyroid | ATC | muscle cell differentiation | 165/6293 | 384/18723 | 7.17e-05 | 5.46e-04 | 165 |
GO:004873811 | Thyroid | ATC | cardiac muscle tissue development | 103/6293 | 236/18723 | 7.93e-04 | 4.37e-03 | 103 |
GO:005114617 | Thyroid | ATC | striated muscle cell differentiation | 119/6293 | 283/18723 | 1.74e-03 | 8.70e-03 | 119 |
GO:005500112 | Thyroid | ATC | muscle cell development | 81/6293 | 184/18723 | 2.02e-03 | 9.60e-03 | 81 |
GO:003505111 | Thyroid | ATC | cardiocyte differentiation | 70/6293 | 156/18723 | 2.18e-03 | 1.02e-02 | 70 |
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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 |
NEB | SNV | Missense_Mutation | novel | c.8357N>A | p.Arg2786Lys | p.R2786K | protein_coding | tolerated(0.07) | possibly_damaging(0.826) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
NEB | SNV | Missense_Mutation | novel | c.24651G>C | p.Gln8217His | p.Q8217H | protein_coding | deleterious(0.01) | probably_damaging(0.917) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD | |
NEB | SNV | Missense_Mutation | novel | c.16443T>G | p.Cys5481Trp | p.C5481W | protein_coding | tolerated(0.06) | probably_damaging(0.938) | TCGA-A2-A04Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
NEB | SNV | Missense_Mutation | rs778455036 | c.21581N>A | p.Thr7194Asn | p.T7194N | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
NEB | SNV | Missense_Mutation | novel | c.21077N>A | p.Arg7026Gln | p.R7026Q | protein_coding | tolerated(0.06) | benign(0.154) | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
NEB | SNV | Missense_Mutation | novel | c.22572N>C | p.Lys7524Asn | p.K7524N | protein_coding | tolerated(0.1) | possibly_damaging(0.696) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
NEB | SNV | Missense_Mutation | c.11968N>C | p.Asp3990His | p.D3990H | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
NEB | SNV | Missense_Mutation | rs778455036 | c.21581N>A | p.Thr7194Asn | p.T7194N | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD | |
NEB | SNV | Missense_Mutation | novel | c.11092N>T | p.Ala3698Ser | p.A3698S | protein_coding | tolerated(0.06) | possibly_damaging(0.655) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD | |
NEB | SNV | Missense_Mutation | novel | c.10363N>T | p.Ala3455Ser | p.A3455S | protein_coding | tolerated(0.09) | probably_damaging(0.99) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | 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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