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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 | P75T-E | Human | Esophagus | ESCC | 2.05e-06 | 6.42e-02 | 0.1125 |
6560 | SLC12A4 | P76T-E | Human | Esophagus | ESCC | 7.12e-11 | 1.36e-01 | 0.1207 |
6560 | SLC12A4 | P79T-E | Human | Esophagus | ESCC | 1.47e-12 | 1.71e-01 | 0.1154 |
6560 | SLC12A4 | P83T-E | Human | Esophagus | ESCC | 8.13e-18 | 2.32e-01 | 0.1738 |
6560 | SLC12A4 | P89T-E | Human | Esophagus | ESCC | 2.19e-04 | 2.56e-01 | 0.1752 |
6560 | SLC12A4 | P91T-E | Human | Esophagus | ESCC | 4.88e-08 | 4.85e-01 | 0.1828 |
6560 | SLC12A4 | P107T-E | Human | Esophagus | ESCC | 6.69e-10 | 2.29e-01 | 0.171 |
6560 | SLC12A4 | P126T-E | Human | Esophagus | ESCC | 2.01e-04 | 3.30e-01 | 0.1125 |
6560 | SLC12A4 | P127T-E | Human | Esophagus | ESCC | 2.80e-13 | 1.91e-01 | 0.0826 |
6560 | SLC12A4 | P128T-E | Human | Esophagus | ESCC | 8.37e-05 | 1.49e-01 | 0.1241 |
6560 | SLC12A4 | P130T-E | Human | Esophagus | ESCC | 1.98e-33 | 5.98e-01 | 0.1676 |
6560 | SLC12A4 | C04 | Human | Oral cavity | OSCC | 5.39e-14 | 6.77e-01 | 0.2633 |
6560 | SLC12A4 | C21 | Human | Oral cavity | OSCC | 7.11e-40 | 1.16e+00 | 0.2678 |
6560 | SLC12A4 | C30 | Human | Oral cavity | OSCC | 1.61e-24 | 9.77e-01 | 0.3055 |
6560 | SLC12A4 | C46 | Human | Oral cavity | OSCC | 1.05e-07 | 3.64e-01 | 0.1673 |
6560 | SLC12A4 | C51 | Human | Oral cavity | OSCC | 4.88e-02 | 3.01e-01 | 0.2674 |
6560 | SLC12A4 | C06 | Human | Oral cavity | OSCC | 2.55e-06 | 1.10e+00 | 0.2699 |
6560 | SLC12A4 | C07 | Human | Oral cavity | OSCC | 1.25e-04 | 6.00e-01 | 0.2491 |
6560 | SLC12A4 | C08 | Human | Oral cavity | OSCC | 2.84e-02 | 9.50e-02 | 0.1919 |
6560 | SLC12A4 | C09 | Human | Oral cavity | OSCC | 3.64e-10 | 3.81e-01 | 0.1431 |
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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.1724N>T | p.Ser575Phe | p.S575F | Q9UP95 | protein_coding | deleterious(0.04) | benign(0.288) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
SLC12A4 | SNV | Missense_Mutation | c.245N>G | p.Ser82Trp | p.S82W | Q9UP95 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
SLC12A4 | SNV | Missense_Mutation | rs751840065 | c.719N>T | p.Ser240Leu | p.S240L | Q9UP95 | protein_coding | tolerated(0.06) | benign(0.045) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SLC12A4 | SNV | Missense_Mutation | novel | c.2771C>A | p.Thr924Asn | p.T924N | Q9UP95 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-C8-A3M8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
SLC12A4 | deletion | Frame_Shift_Del | novel | c.1146delG | p.Trp383GlyfsTer24 | p.W383Gfs*24 | Q9UP95 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
SLC12A4 | deletion | Frame_Shift_Del | novel | c.664delG | p.Ala222ProfsTer6 | p.A222Pfs*6 | Q9UP95 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
SLC12A4 | SNV | Missense_Mutation | novel | c.1875G>C | p.Met625Ile | p.M625I | Q9UP95 | protein_coding | deleterious(0.03) | benign(0.242) | TCGA-C5-A2LY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
SLC12A4 | SNV | Missense_Mutation | rs751840065 | c.719N>T | p.Ser240Leu | p.S240L | Q9UP95 | protein_coding | tolerated(0.06) | benign(0.045) | TCGA-DS-A0VM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
SLC12A4 | SNV | Missense_Mutation | c.266N>C | p.Val89Ala | p.V89A | Q9UP95 | protein_coding | tolerated(1) | benign(0.001) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
SLC12A4 | SNV | Missense_Mutation | novel | c.2823N>C | p.Met941Ile | p.M941I | Q9UP95 | protein_coding | tolerated(0.12) | benign(0.406) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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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