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Gene: SEZ6 |
Gene summary for SEZ6 |
Gene summary. |
Gene information | Species | Human | Gene symbol | SEZ6 | Gene ID | 124925 |
Gene name | seizure related 6 homolog | |
Gene Alias | BSRPC | |
Cytomap | 17q11.2 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q53EL9 |
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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 |
124925 | SEZ6 | S014 | Human | Liver | HCC | 4.58e-05 | 2.50e-01 | 0.2254 |
124925 | SEZ6 | S015 | Human | Liver | HCC | 1.83e-15 | 9.74e-01 | 0.2375 |
124925 | SEZ6 | S016 | Human | Liver | HCC | 1.64e-18 | 6.32e-01 | 0.2243 |
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Transcriptomic changes along malignancy continuum. |
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 |
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:001097511 | Liver | HCC | regulation of neuron projection development | 220/7958 | 445/18723 | 1.68e-03 | 8.78e-03 | 220 |
GO:001635811 | Liver | HCC | dendrite development | 121/7958 | 243/18723 | 1.26e-02 | 4.56e-02 | 121 |
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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. |
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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 |
SEZ6 | SNV | Missense_Mutation | c.2354N>T | p.Ser785Phe | p.S785F | Q53EL9 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SEZ6 | SNV | Missense_Mutation | novel | c.685A>G | p.Thr229Ala | p.T229A | Q53EL9 | protein_coding | deleterious(0.04) | benign(0.001) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SEZ6 | SNV | Missense_Mutation | rs749730590 | c.1261N>T | p.Arg421Cys | p.R421C | Q53EL9 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SEZ6 | SNV | Missense_Mutation | c.1515N>A | p.Phe505Leu | p.F505L | Q53EL9 | protein_coding | tolerated(1) | benign(0.037) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
SEZ6 | SNV | Missense_Mutation | c.2720N>A | p.Arg907His | p.R907H | Q53EL9 | protein_coding | tolerated(0.25) | benign(0.003) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD | |
SEZ6 | deletion | Frame_Shift_Del | c.2675delC | p.Pro892HisfsTer50 | p.P892Hfs*50 | Q53EL9 | protein_coding | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |||
SEZ6 | SNV | Missense_Mutation | rs754875655 | c.1567N>T | p.Arg523Cys | p.R523C | Q53EL9 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SEZ6 | SNV | Missense_Mutation | novel | c.1888N>T | p.Arg630Cys | p.R630C | Q53EL9 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SEZ6 | SNV | Missense_Mutation | rs776212951 | c.1249N>A | p.Gly417Ser | p.G417S | Q53EL9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SEZ6 | SNV | Missense_Mutation | novel | c.787N>C | p.Ser263Pro | p.S263P | Q53EL9 | protein_coding | tolerated(0.31) | benign(0.003) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid 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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