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Gene: SMARCA5 |
Gene summary for SMARCA5 |
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Gene information | Species | Human | Gene symbol | SMARCA5 | Gene ID | 8467 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 | |
Gene Alias | ISWI | |
Cytomap | 4q31.21 | |
Gene Type | protein-coding | GO ID | GO:0000183 | UniProtAcc | O60264 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
8467 | SMARCA5 | LZE4T | Human | Esophagus | ESCC | 1.11e-15 | 6.04e-01 | 0.0811 |
8467 | SMARCA5 | LZE5T | Human | Esophagus | ESCC | 2.00e-05 | 4.84e-01 | 0.0514 |
8467 | SMARCA5 | LZE7T | Human | Esophagus | ESCC | 1.05e-06 | 4.66e-01 | 0.0667 |
8467 | SMARCA5 | LZE8T | Human | Esophagus | ESCC | 2.74e-10 | 1.63e-01 | 0.067 |
8467 | SMARCA5 | LZE20T | Human | Esophagus | ESCC | 4.08e-03 | 1.38e-01 | 0.0662 |
8467 | SMARCA5 | LZE22D1 | Human | Esophagus | HGIN | 1.72e-02 | -6.99e-02 | 0.0595 |
8467 | SMARCA5 | LZE22T | Human | Esophagus | ESCC | 3.39e-05 | 2.82e-01 | 0.068 |
8467 | SMARCA5 | LZE24T | Human | Esophagus | ESCC | 2.66e-14 | 3.91e-01 | 0.0596 |
8467 | SMARCA5 | LZE21T | Human | Esophagus | ESCC | 7.14e-10 | 2.76e-01 | 0.0655 |
8467 | SMARCA5 | LZE6T | Human | Esophagus | ESCC | 4.32e-04 | 1.64e-01 | 0.0845 |
8467 | SMARCA5 | P1T-E | Human | Esophagus | ESCC | 4.06e-13 | 4.37e-01 | 0.0875 |
8467 | SMARCA5 | P2T-E | Human | Esophagus | ESCC | 7.10e-63 | 1.24e+00 | 0.1177 |
8467 | SMARCA5 | P4T-E | Human | Esophagus | ESCC | 2.45e-33 | 8.01e-01 | 0.1323 |
8467 | SMARCA5 | P5T-E | Human | Esophagus | ESCC | 3.06e-23 | 3.37e-01 | 0.1327 |
8467 | SMARCA5 | P8T-E | Human | Esophagus | ESCC | 2.84e-25 | 5.80e-01 | 0.0889 |
8467 | SMARCA5 | P9T-E | Human | Esophagus | ESCC | 7.93e-16 | 3.45e-01 | 0.1131 |
8467 | SMARCA5 | P10T-E | Human | Esophagus | ESCC | 4.38e-27 | 6.61e-01 | 0.116 |
8467 | SMARCA5 | P11T-E | Human | Esophagus | ESCC | 1.27e-24 | 9.45e-01 | 0.1426 |
8467 | SMARCA5 | P12T-E | Human | Esophagus | ESCC | 3.65e-50 | 1.14e+00 | 0.1122 |
8467 | SMARCA5 | P15T-E | Human | Esophagus | ESCC | 2.56e-33 | 8.48e-01 | 0.1149 |
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∗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:000632516 | Esophagus | HGIN | chromatin organization | 92/2587 | 409/18723 | 1.05e-06 | 4.16e-05 | 92 |
GO:00069975 | Esophagus | HGIN | nucleus organization | 34/2587 | 133/18723 | 2.20e-04 | 4.00e-03 | 34 |
GO:00063523 | Esophagus | HGIN | DNA-templated transcription, initiation | 30/2587 | 130/18723 | 2.86e-03 | 2.79e-02 | 30 |
GO:19908308 | Esophagus | HGIN | cellular response to leukemia inhibitory factor | 23/2587 | 94/18723 | 3.92e-03 | 3.54e-02 | 23 |
GO:19908238 | Esophagus | HGIN | response to leukemia inhibitory factor | 23/2587 | 95/18723 | 4.51e-03 | 3.93e-02 | 23 |
GO:000699713 | Esophagus | ESCC | nucleus organization | 96/8552 | 133/18723 | 4.66e-10 | 1.21e-08 | 96 |
GO:000632517 | Esophagus | ESCC | chromatin organization | 240/8552 | 409/18723 | 6.52e-08 | 1.14e-06 | 240 |
GO:00400295 | Esophagus | ESCC | regulation of gene expression, epigenetic | 74/8552 | 105/18723 | 2.24e-07 | 3.42e-06 | 74 |
GO:000635211 | Esophagus | ESCC | DNA-templated transcription, initiation | 86/8552 | 130/18723 | 1.88e-06 | 2.19e-05 | 86 |
GO:199082316 | Esophagus | ESCC | response to leukemia inhibitory factor | 60/8552 | 95/18723 | 4.41e-04 | 2.48e-03 | 60 |
GO:199083015 | Esophagus | ESCC | cellular response to leukemia inhibitory factor | 59/8552 | 94/18723 | 6.19e-04 | 3.32e-03 | 59 |
GO:00708281 | Esophagus | ESCC | heterochromatin organization | 31/8552 | 46/18723 | 2.42e-03 | 1.06e-02 | 31 |
GO:0045814 | Esophagus | ESCC | negative regulation of gene expression, epigenetic | 32/8552 | 50/18723 | 6.90e-03 | 2.52e-02 | 32 |
GO:0006997 | Liver | Cirrhotic | nucleus organization | 48/4634 | 133/18723 | 2.27e-03 | 1.38e-02 | 48 |
GO:00069971 | Liver | HCC | nucleus organization | 82/7958 | 133/18723 | 6.32e-06 | 7.72e-05 | 82 |
GO:0006352 | Liver | HCC | DNA-templated transcription, initiation | 78/7958 | 130/18723 | 4.19e-05 | 4.11e-04 | 78 |
GO:000632511 | Liver | HCC | chromatin organization | 206/7958 | 409/18723 | 7.23e-04 | 4.41e-03 | 206 |
GO:0040029 | Liver | HCC | regulation of gene expression, epigenetic | 61/7958 | 105/18723 | 9.02e-04 | 5.31e-03 | 61 |
GO:00069974 | Oral cavity | OSCC | nucleus organization | 85/7305 | 133/18723 | 5.12e-09 | 1.12e-07 | 85 |
GO:19908237 | Oral cavity | OSCC | response to leukemia inhibitory factor | 58/7305 | 95/18723 | 1.10e-05 | 1.14e-04 | 58 |
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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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∗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 |
SMARCA5 | SNV | Missense_Mutation | novel | c.1726N>A | p.Leu576Met | p.L576M | O60264 | protein_coding | deleterious(0.04) | possibly_damaging(0.615) | TCGA-NC-A5HI-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | cisplatin | CR |
SMARCA5 | SNV | Missense_Mutation | novel | c.2560A>C | p.Ile854Leu | p.I854L | O60264 | protein_coding | deleterious(0.02) | benign(0.035) | TCGA-NC-A5HR-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
SMARCA5 | insertion | Frame_Shift_Ins | novel | c.899_900insACATCACG | p.Phe300LeufsTer9 | p.F300Lfs*9 | O60264 | protein_coding | TCGA-97-8552-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
SMARCA5 | SNV | Missense_Mutation | novel | c.2588N>G | p.Asp863Gly | p.D863G | O60264 | protein_coding | deleterious(0.04) | benign(0.007) | TCGA-CV-6433-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SMARCA5 | SNV | Missense_Mutation | novel | c.1421N>T | p.Thr474Ile | p.T474I | O60264 | protein_coding | deleterious(0) | benign(0.082) | TCGA-TN-A7HL-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | CR |
SMARCA5 | insertion | Frame_Shift_Ins | novel | c.899_900insACATCACGTAGAAATAAACTACGCA | p.Phe300LeufsTer10 | p.F300Lfs*10 | O60264 | protein_coding | TCGA-CN-A497-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | ||
SMARCA5 | insertion | Frame_Shift_Ins | novel | c.620_621insACAA | p.Met207IlefsTer21 | p.M207Ifs*21 | O60264 | protein_coding | TCGA-HD-8635-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
SMARCA5 | SNV | Missense_Mutation | c.854N>T | p.Thr285Ile | p.T285I | O60264 | protein_coding | deleterious(0.02) | probably_damaging(0.986) | TCGA-EJ-7321-01 | Prostate | prostate adenocarcinoma | Male | <65 | 6 | Unknown | Unknown | SD | |
SMARCA5 | SNV | Missense_Mutation | c.2348A>T | p.Glu783Val | p.E783V | O60264 | protein_coding | tolerated(0.08) | benign(0.254) | TCGA-HC-7210-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 7 | Unknown | Unknown | SD | |
SMARCA5 | SNV | Missense_Mutation | rs778373183 | c.2743N>G | p.Ile915Val | p.I915V | O60264 | protein_coding | tolerated(0.29) | benign(0.062) | TCGA-BR-8589-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | 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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