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Gene: SEPT1 |
Gene summary for SEPT1 |
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Gene information | Species | Human | Gene symbol | SEPT1 | Gene ID | 1731 |
Gene name | septin 1 | |
Gene Alias | DIFF6 | |
Cytomap | 16p11.2 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | J3KNL2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1731 | SEPT1 | C21 | Human | Oral cavity | OSCC | 9.10e-09 | 4.26e-01 | 0.2678 |
1731 | SEPT1 | C38 | Human | Oral cavity | OSCC | 1.97e-10 | 9.27e-01 | 0.172 |
1731 | SEPT1 | C43 | Human | Oral cavity | OSCC | 3.05e-06 | 1.49e-01 | 0.1704 |
1731 | SEPT1 | C46 | Human | Oral cavity | OSCC | 4.54e-14 | 4.08e-01 | 0.1673 |
1731 | SEPT1 | C08 | Human | Oral cavity | OSCC | 2.29e-10 | 2.19e-01 | 0.1919 |
1731 | SEPT1 | C09 | Human | Oral cavity | OSCC | 3.58e-12 | 3.86e-01 | 0.1431 |
1731 | SEPT1 | LN46 | Human | Oral cavity | OSCC | 2.47e-04 | 2.82e-01 | 0.1666 |
1731 | SEPT1 | LP15 | Human | Oral cavity | LP | 2.94e-04 | 6.89e-01 | 0.2174 |
1731 | SEPT1 | SYSMH2 | Human | Oral cavity | OSCC | 4.84e-03 | 7.83e-02 | 0.2326 |
1731 | SEPT1 | SYSMH3 | Human | Oral cavity | OSCC | 8.52e-07 | 2.33e-01 | 0.2442 |
1731 | SEPT1 | SYSMH4 | Human | Oral cavity | OSCC | 1.12e-06 | 1.24e-01 | 0.1226 |
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Tissue | Expression Dynamics | Abbreviation |
Oral Cavity | ![]() | EOLP: Erosive Oral lichen planus |
LP: leukoplakia | ||
NEOLP: Non-erosive oral lichen planus | ||
OSCC: Oral squamous cell carcinoma |
∗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 |
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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 |
SEPT1 | SNV | Missense_Mutation | c.214N>C | p.Asp72His | p.D72H | protein_coding | deleterious(0.01) | probably_damaging(0.923) | TCGA-B6-A0RV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
SEPT1 | SNV | Missense_Mutation | novel | c.869G>C | p.Arg290Thr | p.R290T | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A4Z1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
SEPT1 | SNV | Missense_Mutation | c.415N>A | p.Gly139Ser | p.G139S | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-EW-A1PA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | ||
SEPT1 | insertion | Nonsense_Mutation | novel | c.441_442insCCATTCTCAATGTGTTAACAATACCAGATGTCTAAGCAAACA | p.Ser147_Asp148insProPheSerMetCysTerGlnTyrGlnMetSerLysGlnThr | p.S147_D148insPFSMC*QYQMSKQT | protein_coding | TCGA-B6-A0RI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |||
SEPT1 | SNV | Missense_Mutation | rs747998291 | c.518N>A | p.Arg173Gln | p.R173Q | protein_coding | deleterious(0) | possibly_damaging(0.648) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SEPT1 | SNV | Missense_Mutation | c.580N>T | p.Gly194Trp | p.G194W | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
SEPT1 | SNV | Missense_Mutation | c.257C>G | p.Ser86Cys | p.S86C | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-AA-3968-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
SEPT1 | SNV | Missense_Mutation | rs746174841 | c.302N>A | p.Arg101His | p.R101H | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
SEPT1 | SNV | Missense_Mutation | rs767169336 | c.1127N>T | p.Thr376Ile | p.T376I | protein_coding | deleterious(0.03) | possibly_damaging(0.448) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SEPT1 | SNV | Missense_Mutation | novel | c.983C>T | p.Thr328Met | p.T328M | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-AP-A1DH-01 | Endometrium | uterine corpus endometrioid carcinoma | 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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