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Gene: SEZ6 |
Gene summary for SEZ6 |
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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 |
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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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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: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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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 |
SEZ6 | SNV | Missense_Mutation | novel | c.245N>T | p.Glu82Val | p.E82V | Q53EL9 | protein_coding | tolerated_low_confidence(0.32) | benign(0.335) | TCGA-A8-A08O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | PD |
SEZ6 | SNV | Missense_Mutation | c.948N>A | p.Phe316Leu | p.F316L | Q53EL9 | protein_coding | tolerated(1) | benign(0.005) | TCGA-AC-A62X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SEZ6 | SNV | Missense_Mutation | novel | c.1120N>T | p.His374Tyr | p.H374Y | Q53EL9 | protein_coding | deleterious(0.01) | probably_damaging(0.982) | TCGA-DS-A7WH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SEZ6 | SNV | Missense_Mutation | c.382N>A | p.Ala128Thr | p.A128T | Q53EL9 | protein_coding | tolerated_low_confidence(0.3) | benign(0.024) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
SEZ6 | SNV | Missense_Mutation | c.2825G>C | p.Gly942Ala | p.G942A | Q53EL9 | protein_coding | tolerated(0.34) | benign(0.085) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
SEZ6 | SNV | Missense_Mutation | c.864N>C | p.Gln288His | p.Q288H | Q53EL9 | protein_coding | tolerated(0.1) | benign(0.235) | TCGA-ZJ-AAXB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
SEZ6 | SNV | Missense_Mutation | novel | c.1453N>G | p.Tyr485Asp | p.Y485D | Q53EL9 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-AA-3872-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
SEZ6 | SNV | Missense_Mutation | rs766990341 | c.2345N>A | p.Arg782His | p.R782H | Q53EL9 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SEZ6 | SNV | Missense_Mutation | c.2513N>T | p.Cys838Phe | p.C838F | Q53EL9 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AZ-6605-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folfox | SD | |
SEZ6 | SNV | Missense_Mutation | c.1353G>T | p.Glu451Asp | p.E451D | Q53EL9 | protein_coding | deleterious(0.05) | benign(0.111) | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=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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