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Gene: SMARCA1 |
Gene summary for SMARCA1 |
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Gene information | Species | Human | Gene symbol | SMARCA1 | Gene ID | 6594 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 | |
Gene Alias | ISWI | |
Cytomap | Xq25-q26.1 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | B7ZLQ5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6594 | SMARCA1 | LZE4T | Human | Esophagus | ESCC | 6.11e-07 | 1.64e-01 | 0.0811 |
6594 | SMARCA1 | LZE7T | Human | Esophagus | ESCC | 1.09e-04 | 5.65e-01 | 0.0667 |
6594 | SMARCA1 | LZE24T | Human | Esophagus | ESCC | 6.27e-11 | 3.90e-01 | 0.0596 |
6594 | SMARCA1 | P1T-E | Human | Esophagus | ESCC | 1.32e-04 | 2.43e-01 | 0.0875 |
6594 | SMARCA1 | P2T-E | Human | Esophagus | ESCC | 6.63e-23 | 4.71e-01 | 0.1177 |
6594 | SMARCA1 | P4T-E | Human | Esophagus | ESCC | 3.05e-06 | 1.80e-01 | 0.1323 |
6594 | SMARCA1 | P8T-E | Human | Esophagus | ESCC | 2.50e-09 | 1.22e-01 | 0.0889 |
6594 | SMARCA1 | P9T-E | Human | Esophagus | ESCC | 6.74e-10 | 7.52e-02 | 0.1131 |
6594 | SMARCA1 | P10T-E | Human | Esophagus | ESCC | 2.62e-35 | 6.98e-01 | 0.116 |
6594 | SMARCA1 | P11T-E | Human | Esophagus | ESCC | 2.31e-04 | 2.82e-01 | 0.1426 |
6594 | SMARCA1 | P12T-E | Human | Esophagus | ESCC | 6.72e-04 | 9.98e-02 | 0.1122 |
6594 | SMARCA1 | P15T-E | Human | Esophagus | ESCC | 1.73e-07 | 1.39e-01 | 0.1149 |
6594 | SMARCA1 | P16T-E | Human | Esophagus | ESCC | 2.07e-15 | 1.29e-01 | 0.1153 |
6594 | SMARCA1 | P17T-E | Human | Esophagus | ESCC | 1.03e-03 | 2.15e-01 | 0.1278 |
6594 | SMARCA1 | P21T-E | Human | Esophagus | ESCC | 1.46e-04 | -5.62e-03 | 0.1617 |
6594 | SMARCA1 | P22T-E | Human | Esophagus | ESCC | 8.76e-21 | 4.33e-01 | 0.1236 |
6594 | SMARCA1 | P23T-E | Human | Esophagus | ESCC | 5.48e-12 | 3.60e-01 | 0.108 |
6594 | SMARCA1 | P24T-E | Human | Esophagus | ESCC | 1.28e-03 | 1.70e-02 | 0.1287 |
6594 | SMARCA1 | P26T-E | Human | Esophagus | ESCC | 1.03e-16 | 2.78e-01 | 0.1276 |
6594 | SMARCA1 | P27T-E | Human | Esophagus | ESCC | 1.46e-10 | 4.16e-02 | 0.1055 |
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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:000632517 | Esophagus | ESCC | chromatin organization | 240/8552 | 409/18723 | 6.52e-08 | 1.14e-06 | 240 |
GO:00063255 | Liver | NAFLD | chromatin organization | 64/1882 | 409/18723 | 2.31e-04 | 3.89e-03 | 64 |
GO:000632511 | Liver | HCC | chromatin organization | 206/7958 | 409/18723 | 7.23e-04 | 4.41e-03 | 206 |
GO:000632510 | Oral cavity | OSCC | chromatin organization | 190/7305 | 409/18723 | 1.17e-03 | 5.97e-03 | 190 |
GO:00063259 | Prostate | BPH | chromatin organization | 101/3107 | 409/18723 | 1.52e-05 | 1.94e-04 | 101 |
GO:00063382 | Prostate | BPH | chromatin remodeling | 62/3107 | 255/18723 | 9.47e-04 | 5.97e-03 | 62 |
GO:000632514 | Prostate | Tumor | chromatin organization | 104/3246 | 409/18723 | 2.02e-05 | 2.62e-04 | 104 |
GO:000633811 | Prostate | Tumor | chromatin remodeling | 63/3246 | 255/18723 | 1.73e-03 | 1.02e-02 | 63 |
GO:000632519 | Skin | cSCC | chromatin organization | 147/4864 | 409/18723 | 4.41e-06 | 6.52e-05 | 147 |
GO:000633812 | Skin | cSCC | chromatin remodeling | 94/4864 | 255/18723 | 7.58e-05 | 7.26e-04 | 94 |
GO:000632520 | Thyroid | PTC | chromatin organization | 183/5968 | 409/18723 | 2.55e-08 | 5.70e-07 | 183 |
GO:00063385 | Thyroid | PTC | chromatin remodeling | 106/5968 | 255/18723 | 6.56e-04 | 4.13e-03 | 106 |
GO:0006325110 | Thyroid | ATC | chromatin organization | 189/6293 | 409/18723 | 6.40e-08 | 1.13e-06 | 189 |
GO:000633813 | Thyroid | ATC | chromatin remodeling | 109/6293 | 255/18723 | 1.38e-03 | 7.15e-03 | 109 |
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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 |
SMARCA1 | ISLET | Pancreas | PDAC | OCRL,SSX2IP,DMD, etc. | 1.24e-01 | ![]() |
∗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 |
SMARCA1 | SNV | Missense_Mutation | novel | c.2084G>T | p.Arg695Ile | p.R695I | protein_coding | deleterious(0) | benign(0.261) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SMARCA1 | SNV | Missense_Mutation | novel | c.1592G>A | p.Arg531Gln | p.R531Q | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SMARCA1 | SNV | Missense_Mutation | c.2257N>T | p.Arg753Cys | p.R753C | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response | ||
SMARCA1 | SNV | Missense_Mutation | novel | c.1915N>C | p.Lys639Gln | p.K639Q | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response | |
SMARCA1 | SNV | Missense_Mutation | novel | c.391N>C | p.Lys131Gln | p.K131Q | protein_coding | tolerated(0.12) | benign(0.027) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response | |
SMARCA1 | SNV | Missense_Mutation | novel | c.3111N>C | p.Glu1037Asp | p.E1037D | protein_coding | tolerated(0.26) | probably_damaging(0.977) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
SMARCA1 | SNV | Missense_Mutation | novel | c.2608A>C | p.Lys870Gln | p.K870Q | protein_coding | tolerated(0.11) | possibly_damaging(0.797) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
SMARCA1 | SNV | Missense_Mutation | c.2557C>T | p.Leu853Phe | p.L853F | protein_coding | tolerated(0.15) | probably_damaging(0.988) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | ||
SMARCA1 | SNV | Missense_Mutation | c.2978N>A | p.Arg993Gln | p.R993Q | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
SMARCA1 | SNV | Missense_Mutation | novel | c.900N>A | p.Phe300Leu | p.F300L | protein_coding | tolerated(1) | benign(0.035) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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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