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Gene: SMARCD3 |
Gene summary for SMARCD3 |
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Gene information | Species | Human | Gene symbol | SMARCD3 | Gene ID | 6604 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 | |
Gene Alias | BAF60C | |
Cytomap | 7q36.1 | |
Gene Type | protein-coding | GO ID | GO:0000086 | UniProtAcc | Q6STE5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6604 | SMARCD3 | P2T-E | Human | Esophagus | ESCC | 4.12e-11 | 1.66e-01 | 0.1177 |
6604 | SMARCD3 | P4T-E | Human | Esophagus | ESCC | 3.44e-07 | 2.09e-01 | 0.1323 |
6604 | SMARCD3 | P8T-E | Human | Esophagus | ESCC | 3.75e-03 | 1.21e-01 | 0.0889 |
6604 | SMARCD3 | P9T-E | Human | Esophagus | ESCC | 2.93e-04 | 1.48e-01 | 0.1131 |
6604 | SMARCD3 | P10T-E | Human | Esophagus | ESCC | 1.67e-63 | 1.14e+00 | 0.116 |
6604 | SMARCD3 | P12T-E | Human | Esophagus | ESCC | 7.31e-14 | 2.82e-01 | 0.1122 |
6604 | SMARCD3 | P15T-E | Human | Esophagus | ESCC | 2.13e-14 | 4.46e-01 | 0.1149 |
6604 | SMARCD3 | P16T-E | Human | Esophagus | ESCC | 4.40e-09 | 2.00e-01 | 0.1153 |
6604 | SMARCD3 | P22T-E | Human | Esophagus | ESCC | 4.16e-22 | 4.00e-01 | 0.1236 |
6604 | SMARCD3 | P26T-E | Human | Esophagus | ESCC | 9.67e-18 | 3.10e-01 | 0.1276 |
6604 | SMARCD3 | P27T-E | Human | Esophagus | ESCC | 1.96e-05 | 1.23e-01 | 0.1055 |
6604 | SMARCD3 | P28T-E | Human | Esophagus | ESCC | 4.40e-09 | 1.98e-01 | 0.1149 |
6604 | SMARCD3 | P31T-E | Human | Esophagus | ESCC | 4.17e-05 | 1.21e-01 | 0.1251 |
6604 | SMARCD3 | P32T-E | Human | Esophagus | ESCC | 9.44e-07 | 1.43e-01 | 0.1666 |
6604 | SMARCD3 | P37T-E | Human | Esophagus | ESCC | 2.48e-04 | 1.01e-01 | 0.1371 |
6604 | SMARCD3 | P40T-E | Human | Esophagus | ESCC | 4.54e-05 | 1.45e-01 | 0.109 |
6604 | SMARCD3 | P47T-E | Human | Esophagus | ESCC | 1.78e-03 | 8.78e-02 | 0.1067 |
6604 | SMARCD3 | P49T-E | Human | Esophagus | ESCC | 2.20e-09 | 8.92e-01 | 0.1768 |
6604 | SMARCD3 | P52T-E | Human | Esophagus | ESCC | 3.75e-03 | 7.35e-02 | 0.1555 |
6604 | SMARCD3 | P57T-E | Human | Esophagus | ESCC | 8.84e-05 | 1.38e-01 | 0.0926 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000633711 | Liver | HCC | nucleosome disassembly | 13/7958 | 18/18723 | 1.05e-02 | 3.89e-02 | 13 |
GO:19019921 | Liver | HCC | positive regulation of mitotic cell cycle phase transition | 51/7958 | 93/18723 | 1.09e-02 | 4.04e-02 | 51 |
GO:00314983 | Liver | HCC | chromatin disassembly | 14/7958 | 20/18723 | 1.21e-02 | 4.41e-02 | 14 |
GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
GO:0051098113 | Thyroid | PTC | regulation of binding | 195/5968 | 363/18723 | 3.21e-18 | 3.37e-16 | 195 |
GO:000734619 | Thyroid | PTC | regulation of mitotic cell cycle | 212/5968 | 457/18723 | 4.03e-11 | 1.44e-09 | 212 |
GO:004477218 | Thyroid | PTC | mitotic cell cycle phase transition | 196/5968 | 424/18723 | 3.17e-10 | 1.02e-08 | 196 |
GO:0043393111 | Thyroid | PTC | regulation of protein binding | 103/5968 | 196/18723 | 1.39e-09 | 3.96e-08 | 103 |
GO:0032984110 | Thyroid | PTC | protein-containing complex disassembly | 114/5968 | 224/18723 | 2.26e-09 | 6.33e-08 | 114 |
GO:000632520 | Thyroid | PTC | chromatin organization | 183/5968 | 409/18723 | 2.55e-08 | 5.70e-07 | 183 |
GO:004578718 | Thyroid | PTC | positive regulation of cell cycle | 144/5968 | 313/18723 | 9.93e-08 | 1.99e-06 | 144 |
GO:001072018 | Thyroid | PTC | positive regulation of cell development | 138/5968 | 298/18723 | 1.13e-07 | 2.22e-06 | 138 |
GO:19019908 | Thyroid | PTC | regulation of mitotic cell cycle phase transition | 138/5968 | 299/18723 | 1.44e-07 | 2.78e-06 | 138 |
GO:004593119 | Thyroid | PTC | positive regulation of mitotic cell cycle | 65/5968 | 121/18723 | 5.08e-07 | 8.26e-06 | 65 |
GO:005076914 | Thyroid | PTC | positive regulation of neurogenesis | 105/5968 | 225/18723 | 2.28e-06 | 3.05e-05 | 105 |
GO:19019878 | Thyroid | PTC | regulation of cell cycle phase transition | 167/5968 | 390/18723 | 2.97e-06 | 3.87e-05 | 167 |
GO:005076716 | Thyroid | PTC | regulation of neurogenesis | 156/5968 | 364/18723 | 5.86e-06 | 7.05e-05 | 156 |
GO:005196214 | Thyroid | PTC | positive regulation of nervous system development | 117/5968 | 272/18723 | 6.72e-05 | 5.89e-04 | 117 |
GO:009006816 | Thyroid | PTC | positive regulation of cell cycle process | 103/5968 | 236/18723 | 9.03e-05 | 7.50e-04 | 103 |
GO:00519608 | Thyroid | PTC | regulation of nervous system development | 177/5968 | 443/18723 | 1.72e-04 | 1.32e-03 | 177 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0522518 | Esophagus | ESCC | Hepatocellular carcinoma | 109/4205 | 168/8465 | 4.27e-05 | 1.88e-04 | 9.64e-05 | 109 |
hsa0522519 | Esophagus | ESCC | Hepatocellular carcinoma | 109/4205 | 168/8465 | 4.27e-05 | 1.88e-04 | 9.64e-05 | 109 |
hsa0471414 | Liver | Cirrhotic | Thermogenesis | 121/2530 | 232/8465 | 5.70e-13 | 1.36e-11 | 8.36e-12 | 121 |
hsa0471415 | Liver | Cirrhotic | Thermogenesis | 121/2530 | 232/8465 | 5.70e-13 | 1.36e-11 | 8.36e-12 | 121 |
hsa0471422 | Liver | HCC | Thermogenesis | 170/4020 | 232/8465 | 5.36e-16 | 2.25e-14 | 1.25e-14 | 170 |
hsa052258 | Liver | HCC | Hepatocellular carcinoma | 106/4020 | 168/8465 | 2.87e-05 | 1.85e-04 | 1.03e-04 | 106 |
hsa0471432 | Liver | HCC | Thermogenesis | 170/4020 | 232/8465 | 5.36e-16 | 2.25e-14 | 1.25e-14 | 170 |
hsa0522511 | Liver | HCC | Hepatocellular carcinoma | 106/4020 | 168/8465 | 2.87e-05 | 1.85e-04 | 1.03e-04 | 106 |
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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 |
SMARCD3 | SNV | Missense_Mutation | rs374935911 | c.746G>A | p.Arg249His | p.R249H | Q6STE5 | protein_coding | tolerated(0.11) | possibly_damaging(0.608) | TCGA-A2-A3XZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
SMARCD3 | SNV | Missense_Mutation | c.971A>G | p.Glu324Gly | p.E324G | Q6STE5 | protein_coding | deleterious(0) | possibly_damaging(0.593) | TCGA-BH-A18U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
SMARCD3 | SNV | Missense_Mutation | rs758051223 | c.946G>T | p.Asp316Tyr | p.D316Y | Q6STE5 | protein_coding | deleterious(0.01) | possibly_damaging(0.793) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
SMARCD3 | SNV | Missense_Mutation | c.1169N>A | p.Ser390Asn | p.S390N | Q6STE5 | protein_coding | tolerated(1) | benign(0) | TCGA-E2-A1B0-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD | |
SMARCD3 | insertion | Frame_Shift_Ins | novel | c.413_414insTCCCTGTTGCTCTCCCACAGCCCAGCAAACA | p.Lys139ProfsTer38 | p.K139Pfs*38 | Q6STE5 | protein_coding | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
SMARCD3 | deletion | Frame_Shift_Del | novel | c.1281delN | p.Ser428AlafsTer6 | p.S428Afs*6 | Q6STE5 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
SMARCD3 | SNV | Missense_Mutation | novel | c.397G>A | p.Asp133Asn | p.D133N | Q6STE5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SMARCD3 | SNV | Missense_Mutation | c.1035C>G | p.Ile345Met | p.I345M | Q6STE5 | protein_coding | deleterious(0.02) | probably_damaging(0.929) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD | |
SMARCD3 | SNV | Missense_Mutation | c.779C>T | p.Pro260Leu | p.P260L | Q6STE5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A6-6648-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | PD | |
SMARCD3 | SNV | Missense_Mutation | c.709G>A | p.Gly237Ser | p.G237S | Q6STE5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=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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