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Gene: SEM1 |
Gene summary for SEM1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | SEM1 | Gene ID | 7979 |
Gene name | SEM1 26S proteasome subunit | |
Gene Alias | C7orf76 | |
Cytomap | 7q21.3 | |
Gene Type | protein-coding | GO ID | NA | UniProtAcc | P60896 |
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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 |
7979 | SEM1 | GSM4909281 | Human | Breast | IDC | 1.67e-61 | 9.74e-01 | 0.21 |
7979 | SEM1 | GSM4909282 | Human | Breast | IDC | 5.42e-70 | 1.00e+00 | -0.0288 |
7979 | SEM1 | GSM4909285 | Human | Breast | IDC | 4.10e-21 | 5.98e-01 | 0.21 |
7979 | SEM1 | GSM4909286 | Human | Breast | IDC | 5.12e-36 | 7.34e-01 | 0.1081 |
7979 | SEM1 | GSM4909287 | Human | Breast | IDC | 2.34e-08 | 4.44e-01 | 0.2057 |
7979 | SEM1 | GSM4909288 | Human | Breast | IDC | 9.00e-12 | 6.98e-01 | 0.0988 |
7979 | SEM1 | GSM4909289 | Human | Breast | IDC | 6.82e-03 | 5.19e-01 | 0.1064 |
7979 | SEM1 | GSM4909290 | Human | Breast | IDC | 7.47e-15 | 6.02e-01 | 0.2096 |
7979 | SEM1 | GSM4909293 | Human | Breast | IDC | 7.18e-22 | 5.85e-01 | 0.1581 |
7979 | SEM1 | GSM4909294 | Human | Breast | IDC | 3.33e-29 | 6.21e-01 | 0.2022 |
7979 | SEM1 | GSM4909295 | Human | Breast | IDC | 5.98e-10 | 6.07e-01 | 0.0898 |
7979 | SEM1 | GSM4909296 | Human | Breast | IDC | 4.13e-34 | 6.91e-01 | 0.1524 |
7979 | SEM1 | GSM4909297 | Human | Breast | IDC | 9.74e-07 | 4.50e-02 | 0.1517 |
7979 | SEM1 | GSM4909298 | Human | Breast | IDC | 1.34e-19 | 5.15e-01 | 0.1551 |
7979 | SEM1 | GSM4909299 | Human | Breast | IDC | 1.99e-07 | 4.34e-01 | 0.035 |
7979 | SEM1 | GSM4909301 | Human | Breast | IDC | 1.84e-08 | 4.61e-01 | 0.1577 |
7979 | SEM1 | GSM4909302 | Human | Breast | IDC | 5.56e-22 | 6.55e-01 | 0.1545 |
7979 | SEM1 | GSM4909304 | Human | Breast | IDC | 1.17e-12 | 4.63e-01 | 0.1636 |
7979 | SEM1 | GSM4909305 | Human | Breast | IDC | 5.23e-07 | 3.10e-01 | 0.0436 |
7979 | SEM1 | GSM4909306 | Human | Breast | IDC | 7.92e-39 | 7.97e-01 | 0.1564 |
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Transcriptomic changes along malignancy continuum. |
∗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 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa050121 | Colorectum | AD | Parkinson disease | 147/2092 | 266/8465 | 2.53e-27 | 8.48e-25 | 5.41e-25 | 147 |
hsa050101 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050161 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
hsa050201 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa050141 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa030501 | Colorectum | AD | Proteasome | 29/2092 | 46/8465 | 3.87e-08 | 6.18e-07 | 3.94e-07 | 29 |
hsa050171 | Colorectum | AD | Spinocerebellar ataxia | 60/2092 | 143/8465 | 3.78e-06 | 4.35e-05 | 2.78e-05 | 60 |
hsa050122 | Colorectum | SER | Parkinson disease | 132/1580 | 266/8465 | 2.72e-31 | 9.03e-29 | 6.55e-29 | 132 |
hsa050202 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa050162 | Colorectum | SER | Huntington disease | 127/1580 | 306/8465 | 3.29e-21 | 1.37e-19 | 9.92e-20 | 127 |
hsa050102 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050222 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa050142 | Colorectum | SER | Amyotrophic lateral sclerosis | 138/1580 | 364/8465 | 9.89e-19 | 2.99e-17 | 2.17e-17 | 138 |
hsa030502 | Colorectum | SER | Proteasome | 24/1580 | 46/8465 | 3.05e-07 | 5.96e-06 | 4.33e-06 | 24 |
hsa050172 | Colorectum | SER | Spinocerebellar ataxia | 46/1580 | 143/8465 | 6.78e-05 | 7.51e-04 | 5.45e-04 | 46 |
hsa050123 | Colorectum | SER | Parkinson disease | 132/1580 | 266/8465 | 2.72e-31 | 9.03e-29 | 6.55e-29 | 132 |
hsa050203 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa050163 | Colorectum | SER | Huntington disease | 127/1580 | 306/8465 | 3.29e-21 | 1.37e-19 | 9.92e-20 | 127 |
hsa050103 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
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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 |
SEM1 | SNV | Missense_Mutation | novel | c.95N>A | p.Ser32Asn | p.S32N | protein_coding | deleterious_low_confidence(0.05) | benign(0.007) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
SEM1 | SNV | Missense_Mutation | c.133N>A | p.Asp45Asn | p.D45N | P60896 | protein_coding | deleterious(0) | possibly_damaging(0.822) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
SEM1 | SNV | Missense_Mutation | c.347G>T | p.Arg116Ile | p.R116I | protein_coding | deleterious_low_confidence(0.02) | benign(0.166) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
SEM1 | SNV | Missense_Mutation | c.125N>C | p.Asn42Thr | p.N42T | P60896 | protein_coding | deleterious(0) | possibly_damaging(0.728) | TCGA-CC-5264-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
SEM1 | SNV | Missense_Mutation | novel | c.152N>T | p.Asp51Val | p.D51V | P60896 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-CC-A8HU-01 | Liver | liver hepatocellular carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
SEM1 | SNV | Missense_Mutation | c.193G>C | p.Glu65Gln | p.E65Q | protein_coding | deleterious_low_confidence(0) | unknown(0) | TCGA-69-7979-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
SEM1 | SNV | Missense_Mutation | novel | c.177N>C | p.Glu59Asp | p.E59D | protein_coding | deleterious(0.01) | possibly_damaging(0.848) | TCGA-MN-A4N5-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
SEM1 | SNV | Missense_Mutation | rs543465507 | c.189G>A | p.Met63Ile | p.M63I | protein_coding | tolerated_low_confidence(0.41) | benign(0) | TCGA-58-8390-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
SEM1 | SNV | Missense_Mutation | novel | c.250N>T | p.Ser84Cys | p.S84C | protein_coding | deleterious_low_confidence(0) | benign(0.062) | TCGA-CN-6021-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
SEM1 | SNV | Missense_Mutation | novel | c.198G>C | p.Lys66Asn | p.K66N | P60896 | protein_coding | deleterious(0.01) | possibly_damaging(0.775) | TCGA-CR-7388-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
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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 |
7979 | SEM1 | NA | inhibitor | CHEMBL3545432 | IXAZOMIB CITRATE | |
7979 | SEM1 | NA | inhibitor | CHEMBL2103884 | OPROZOMIB | |
7979 | SEM1 | NA | inhibitor | CHEMBL451887 | CARFILZOMIB | |
7979 | SEM1 | NA | CARFILZOMIB | CARFILZOMIB | 24524217 | |
7979 | SEM1 | NA | BORTEZOMIB | BORTEZOMIB | 24524217 | |
7979 | SEM1 | NA | inhibitor | CHEMBL325041 | BORTEZOMIB |
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