Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00509006 | Breast | Precancer | leukocyte migration | 47/1080 | 369/18723 | 2.82e-07 | 1.39e-05 | 47 |
GO:00100389 | Breast | Precancer | response to metal ion | 47/1080 | 373/18723 | 3.88e-07 | 1.79e-05 | 47 |
GO:00305956 | Breast | Precancer | leukocyte chemotaxis | 34/1080 | 230/18723 | 4.16e-07 | 1.89e-05 | 34 |
GO:00603266 | Breast | Precancer | cell chemotaxis | 41/1080 | 310/18723 | 5.99e-07 | 2.55e-05 | 41 |
GO:00420609 | Breast | Precancer | wound healing | 48/1080 | 422/18723 | 5.48e-06 | 1.63e-04 | 48 |
GO:00075688 | Breast | Precancer | aging | 41/1080 | 339/18723 | 5.95e-06 | 1.71e-04 | 41 |
GO:00716744 | Breast | Precancer | mononuclear cell migration | 24/1080 | 196/18723 | 4.03e-04 | 5.44e-03 | 24 |
GO:00712488 | Breast | Precancer | cellular response to metal ion | 24/1080 | 197/18723 | 4.35e-04 | 5.79e-03 | 24 |
GO:00712418 | Breast | Precancer | cellular response to inorganic substance | 26/1080 | 226/18723 | 6.23e-04 | 7.78e-03 | 26 |
GO:00356335 | Breast | Precancer | maintenance of blood-brain barrier | 8/1080 | 35/18723 | 6.95e-04 | 8.43e-03 | 8 |
GO:0045765 | Breast | Precancer | regulation of angiogenesis | 35/1080 | 342/18723 | 7.35e-04 | 8.80e-03 | 35 |
GO:0030007 | Breast | Precancer | cellular potassium ion homeostasis | 5/1080 | 14/18723 | 8.17e-04 | 9.55e-03 | 5 |
GO:1901342 | Breast | Precancer | regulation of vasculature development | 35/1080 | 348/18723 | 1.00e-03 | 1.12e-02 | 35 |
GO:00507086 | Breast | Precancer | regulation of protein secretion | 28/1080 | 268/18723 | 1.76e-03 | 1.74e-02 | 28 |
GO:00018948 | Breast | Precancer | tissue homeostasis | 27/1080 | 268/18723 | 3.49e-03 | 2.90e-02 | 27 |
GO:19030348 | Breast | Precancer | regulation of response to wounding | 19/1080 | 167/18723 | 3.60e-03 | 2.98e-02 | 19 |
GO:00716926 | Breast | Precancer | protein localization to extracellular region | 34/1080 | 368/18723 | 4.65e-03 | 3.58e-02 | 34 |
GO:00093067 | Breast | Precancer | protein secretion | 33/1080 | 359/18723 | 5.65e-03 | 4.08e-02 | 33 |
GO:00355927 | Breast | Precancer | establishment of protein localization to extracellular region | 33/1080 | 360/18723 | 5.89e-03 | 4.21e-02 | 33 |
GO:00300046 | Breast | Precancer | cellular monovalent inorganic cation homeostasis | 13/1080 | 103/18723 | 6.26e-03 | 4.40e-02 | 13 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0511014 | Breast | Precancer | Vibrio cholerae infection | 14/684 | 50/8465 | 2.67e-05 | 2.64e-04 | 2.02e-04 | 14 |
hsa0511015 | Breast | Precancer | Vibrio cholerae infection | 14/684 | 50/8465 | 2.67e-05 | 2.64e-04 | 2.02e-04 | 14 |
hsa0511022 | Breast | IDC | Vibrio cholerae infection | 17/867 | 50/8465 | 4.82e-06 | 6.82e-05 | 5.10e-05 | 17 |
hsa049704 | Breast | IDC | Salivary secretion | 18/867 | 93/8465 | 5.69e-03 | 3.13e-02 | 2.34e-02 | 18 |
hsa0511032 | Breast | IDC | Vibrio cholerae infection | 17/867 | 50/8465 | 4.82e-06 | 6.82e-05 | 5.10e-05 | 17 |
hsa0497011 | Breast | IDC | Salivary secretion | 18/867 | 93/8465 | 5.69e-03 | 3.13e-02 | 2.34e-02 | 18 |
hsa0511041 | Breast | DCIS | Vibrio cholerae infection | 17/846 | 50/8465 | 3.45e-06 | 4.45e-05 | 3.28e-05 | 17 |
hsa0511051 | Breast | DCIS | Vibrio cholerae infection | 17/846 | 50/8465 | 3.45e-06 | 4.45e-05 | 3.28e-05 | 17 |
hsa05110 | Colorectum | AD | Vibrio cholerae infection | 29/2092 | 50/8465 | 5.10e-07 | 7.12e-06 | 4.54e-06 | 29 |
hsa04972 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa051101 | Colorectum | AD | Vibrio cholerae infection | 29/2092 | 50/8465 | 5.10e-07 | 7.12e-06 | 4.54e-06 | 29 |
hsa049721 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa051102 | Colorectum | SER | Vibrio cholerae infection | 24/1580 | 50/8465 | 2.17e-06 | 3.13e-05 | 2.28e-05 | 24 |
hsa049722 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa051103 | Colorectum | SER | Vibrio cholerae infection | 24/1580 | 50/8465 | 2.17e-06 | 3.13e-05 | 2.28e-05 | 24 |
hsa049723 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa051104 | Colorectum | MSS | Vibrio cholerae infection | 27/1875 | 50/8465 | 8.58e-07 | 1.20e-05 | 7.34e-06 | 27 |
hsa049724 | Colorectum | MSS | Pancreatic secretion | 33/1875 | 102/8465 | 1.09e-02 | 3.75e-02 | 2.30e-02 | 33 |
hsa051105 | Colorectum | MSS | Vibrio cholerae infection | 27/1875 | 50/8465 | 8.58e-07 | 1.20e-05 | 7.34e-06 | 27 |
hsa049725 | Colorectum | MSS | Pancreatic secretion | 33/1875 | 102/8465 | 1.09e-02 | 3.75e-02 | 2.30e-02 | 33 |
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 |
SLC12A2 | SNV | Missense_Mutation | | c.2921N>T | p.Thr974Ile | p.T974I | P55011 | protein_coding | tolerated(0.35) | benign(0) | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
SLC12A2 | SNV | Missense_Mutation | | c.2813T>C | p.Leu938Ser | p.L938S | P55011 | protein_coding | tolerated(0.28) | benign(0.115) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC12A2 | SNV | Missense_Mutation | rs772305204 | c.1461N>G | p.Phe487Leu | p.F487L | P55011 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-BH-A0B5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR |
SLC12A2 | SNV | Missense_Mutation | | c.985N>A | p.Val329Ile | p.V329I | P55011 | protein_coding | tolerated(0.06) | probably_damaging(0.99) | TCGA-BH-A0HL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SLC12A2 | SNV | Missense_Mutation | rs111986207 | c.2739A>G | p.Ile913Met | p.I913M | P55011 | protein_coding | tolerated(0.27) | benign(0.097) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC12A2 | SNV | Missense_Mutation | | c.1593N>T | p.Leu531Phe | p.L531F | P55011 | protein_coding | tolerated(0.06) | benign(0.401) | TCGA-E9-A1RH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | SD |
SLC12A2 | SNV | Missense_Mutation | | c.1594N>A | p.Val532Ile | p.V532I | P55011 | protein_coding | tolerated(0.24) | possibly_damaging(0.728) | TCGA-E9-A1RH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | SD |
SLC12A2 | SNV | Missense_Mutation | novel | c.1070C>T | p.Ser357Phe | p.S357F | P55011 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-XX-A89A-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC12A2 | insertion | In_Frame_Ins | novel | c.1124_1125insAGATTTTATTTACTCTTTTTCCAGTTT | p.Ala375_Asn376insAspPheIleTyrSerPheSerSerPhe | p.A375_N376insDFIYSFSSF | P55011 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
SLC12A2 | SNV | Missense_Mutation | | c.1129G>A | p.Ala377Thr | p.A377T | P55011 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
6558 | SLC12A2 | DRUGGABLE GENOME, TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE | | BUMETANIDE | BUMETANIDE | |
6558 | SLC12A2 | DRUGGABLE GENOME, TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE | | BUMETANIDE | BUMETANIDE | |
6558 | SLC12A2 | DRUGGABLE GENOME, TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178101453 | PIRETANIDE | |
6558 | SLC12A2 | DRUGGABLE GENOME, TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178101539 | BUMETANIDE | |
6558 | SLC12A2 | DRUGGABLE GENOME, TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178101541 | FUROSEMIDE | |