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Gene: SLC12A4 |
Gene summary for SLC12A4 |
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Gene information | Species | Human | Gene symbol | SLC12A4 | Gene ID | 6560 |
Gene name | solute carrier family 12 member 4 | |
Gene Alias | CTC-479C5.17 | |
Cytomap | 16q22.1 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | B4DF30 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6560 | SLC12A4 | LZE4T | Human | Esophagus | ESCC | 6.46e-03 | 4.45e-02 | 0.0811 |
6560 | SLC12A4 | LZE24T | Human | Esophagus | ESCC | 8.17e-09 | 9.81e-02 | 0.0596 |
6560 | SLC12A4 | P1T-E | Human | Esophagus | ESCC | 1.08e-04 | 3.33e-01 | 0.0875 |
6560 | SLC12A4 | P2T-E | Human | Esophagus | ESCC | 2.02e-11 | 1.56e-01 | 0.1177 |
6560 | SLC12A4 | P4T-E | Human | Esophagus | ESCC | 7.12e-05 | 7.04e-02 | 0.1323 |
6560 | SLC12A4 | P5T-E | Human | Esophagus | ESCC | 2.40e-15 | 1.41e-01 | 0.1327 |
6560 | SLC12A4 | P8T-E | Human | Esophagus | ESCC | 5.74e-10 | 1.20e-01 | 0.0889 |
6560 | SLC12A4 | P9T-E | Human | Esophagus | ESCC | 2.33e-06 | 4.23e-02 | 0.1131 |
6560 | SLC12A4 | P10T-E | Human | Esophagus | ESCC | 4.33e-09 | 7.86e-02 | 0.116 |
6560 | SLC12A4 | P11T-E | Human | Esophagus | ESCC | 2.10e-13 | 4.12e-01 | 0.1426 |
6560 | SLC12A4 | P12T-E | Human | Esophagus | ESCC | 2.55e-09 | 7.31e-02 | 0.1122 |
6560 | SLC12A4 | P15T-E | Human | Esophagus | ESCC | 5.31e-11 | 1.15e-01 | 0.1149 |
6560 | SLC12A4 | P16T-E | Human | Esophagus | ESCC | 7.23e-05 | 6.36e-02 | 0.1153 |
6560 | SLC12A4 | P17T-E | Human | Esophagus | ESCC | 7.20e-07 | 2.19e-01 | 0.1278 |
6560 | SLC12A4 | P19T-E | Human | Esophagus | ESCC | 1.44e-04 | 5.83e-01 | 0.1662 |
6560 | SLC12A4 | P20T-E | Human | Esophagus | ESCC | 1.76e-03 | 9.36e-03 | 0.1124 |
6560 | SLC12A4 | P21T-E | Human | Esophagus | ESCC | 1.60e-14 | 2.84e-01 | 0.1617 |
6560 | SLC12A4 | P22T-E | Human | Esophagus | ESCC | 7.91e-05 | 5.79e-02 | 0.1236 |
6560 | SLC12A4 | P23T-E | Human | Esophagus | ESCC | 2.21e-07 | 1.90e-01 | 0.108 |
6560 | SLC12A4 | P24T-E | Human | Esophagus | ESCC | 4.88e-07 | 1.03e-01 | 0.1287 |
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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:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
GO:00083619 | Esophagus | ESCC | regulation of cell size | 107/8552 | 181/18723 | 1.81e-04 | 1.16e-03 | 107 |
GO:003253519 | Oral cavity | OSCC | regulation of cellular component size | 201/7305 | 383/18723 | 4.80e-08 | 8.88e-07 | 201 |
GO:00083618 | Oral cavity | OSCC | regulation of cell size | 92/7305 | 181/18723 | 7.86e-04 | 4.26e-03 | 92 |
GO:0032535110 | Oral cavity | LP | regulation of cellular component size | 128/4623 | 383/18723 | 6.56e-05 | 8.80e-04 | 128 |
GO:0032535111 | Skin | cSCC | regulation of cellular component size | 131/4864 | 383/18723 | 1.89e-04 | 1.59e-03 | 131 |
GO:0032535112 | Thyroid | PTC | regulation of cellular component size | 181/5968 | 383/18723 | 1.70e-10 | 5.64e-09 | 181 |
GO:000836115 | Thyroid | PTC | regulation of cell size | 83/5968 | 181/18723 | 5.45e-05 | 4.84e-04 | 83 |
GO:003253526 | Thyroid | ATC | regulation of cellular component size | 191/6293 | 383/18723 | 2.51e-11 | 8.69e-10 | 191 |
GO:000836122 | Thyroid | ATC | regulation of cell size | 89/6293 | 181/18723 | 1.01e-05 | 1.00e-04 | 89 |
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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 |
SLC12A4 | SNV | Missense_Mutation | novel | c.2287N>G | p.Phe763Val | p.F763V | Q9UP95 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC12A4 | SNV | Missense_Mutation | novel | c.506N>T | p.Thr169Met | p.T169M | Q9UP95 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A5-A7WJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC12A4 | SNV | Missense_Mutation | rs766407665 | c.2149N>A | p.Ala717Thr | p.A717T | Q9UP95 | protein_coding | tolerated(0.63) | possibly_damaging(0.527) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
SLC12A4 | SNV | Missense_Mutation | c.1772N>G | p.Tyr591Cys | p.Y591C | Q9UP95 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD | |
SLC12A4 | SNV | Missense_Mutation | rs769702101 | c.1528N>A | p.Val510Ile | p.V510I | Q9UP95 | protein_coding | tolerated(0.16) | benign(0.325) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC12A4 | SNV | Missense_Mutation | rs373763017 | c.1057N>A | p.Asp353Asn | p.D353N | Q9UP95 | protein_coding | tolerated(0.49) | benign(0.066) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC12A4 | SNV | Missense_Mutation | c.772N>T | p.Thr258Ser | p.T258S | Q9UP95 | protein_coding | tolerated(0.28) | benign(0.06) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SLC12A4 | SNV | Missense_Mutation | c.3038C>T | p.Pro1013Leu | p.P1013L | Q9UP95 | protein_coding | deleterious(0.02) | probably_damaging(0.993) | TCGA-AP-A0LG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
SLC12A4 | SNV | Missense_Mutation | rs759888969 | c.737N>T | p.Ser246Leu | p.S246L | Q9UP95 | protein_coding | tolerated(0.12) | benign(0.027) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
SLC12A4 | SNV | Missense_Mutation | novel | c.2645C>T | p.Thr882Ile | p.T882I | Q9UP95 | protein_coding | deleterious(0) | possibly_damaging(0.828) | TCGA-AP-A1DH-01 | Endometrium | uterine corpus endometrioid carcinoma | 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 |
6560 | SLC12A4 | EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME, TRANSPORTER | inhibitor | 178101310 | ||
6560 | SLC12A4 | EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME, TRANSPORTER | BUMETANIDE | BUMETANIDE | ||
6560 | SLC12A4 | EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME, TRANSPORTER | BUMETANIDE | BUMETANIDE |
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