Tissue | Expression Dynamics | Abbreviation |
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 |
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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00324121 | Colorectum | FAP | regulation of ion transmembrane transporter activity | 60/2622 | 267/18723 | 1.12e-04 | 1.84e-03 | 60 |
GO:00324092 | Colorectum | FAP | regulation of transporter activity | 67/2622 | 310/18723 | 1.59e-04 | 2.43e-03 | 67 |
GO:01100203 | Colorectum | FAP | regulation of actomyosin structure organization | 28/2622 | 100/18723 | 1.88e-04 | 2.76e-03 | 28 |
GO:19026004 | Colorectum | FAP | proton transmembrane transport | 39/2622 | 157/18723 | 2.03e-04 | 2.92e-03 | 39 |
GO:0010959 | Colorectum | FAP | regulation of metal ion transport | 83/2622 | 406/18723 | 2.06e-04 | 2.96e-03 | 83 |
GO:00860031 | Colorectum | FAP | cardiac muscle cell contraction | 22/2622 | 73/18723 | 2.88e-04 | 3.77e-03 | 22 |
GO:00300043 | Colorectum | FAP | cellular monovalent inorganic cation homeostasis | 28/2622 | 103/18723 | 3.23e-04 | 4.15e-03 | 28 |
GO:19018882 | Colorectum | FAP | regulation of cell junction assembly | 47/2622 | 204/18723 | 3.25e-04 | 4.16e-03 | 47 |
GO:0001508 | Colorectum | FAP | action potential | 34/2622 | 134/18723 | 3.30e-04 | 4.22e-03 | 34 |
GO:0036294 | Colorectum | FAP | cellular response to decreased oxygen levels | 39/2622 | 161/18723 | 3.52e-04 | 4.47e-03 | 39 |
GO:0071456 | Colorectum | FAP | cellular response to hypoxia | 37/2622 | 151/18723 | 3.88e-04 | 4.75e-03 | 37 |
GO:0006814 | Colorectum | FAP | sodium ion transport | 54/2622 | 245/18723 | 3.98e-04 | 4.85e-03 | 54 |
GO:00514532 | Colorectum | FAP | regulation of intracellular pH | 22/2622 | 75/18723 | 4.38e-04 | 5.21e-03 | 22 |
GO:00030122 | Colorectum | FAP | muscle system process | 89/2622 | 452/18723 | 4.63e-04 | 5.39e-03 | 89 |
GO:00514922 | Colorectum | FAP | regulation of stress fiber assembly | 25/2622 | 91/18723 | 5.55e-04 | 6.22e-03 | 25 |
GO:00068394 | Colorectum | FAP | mitochondrial transport | 55/2622 | 254/18723 | 5.58e-04 | 6.24e-03 | 55 |
GO:00435022 | Colorectum | FAP | regulation of muscle adaptation | 26/2622 | 98/18723 | 7.75e-04 | 8.17e-03 | 26 |
GO:0043270 | Colorectum | FAP | positive regulation of ion transport | 58/2622 | 275/18723 | 7.98e-04 | 8.36e-03 | 58 |
GO:0032414 | Colorectum | FAP | positive regulation of ion transmembrane transporter activity | 28/2622 | 109/18723 | 8.64e-04 | 8.87e-03 | 28 |
GO:00306413 | Colorectum | FAP | regulation of cellular pH | 22/2622 | 81/18723 | 1.37e-03 | 1.24e-02 | 22 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04919 | Colorectum | AD | Thyroid hormone signaling pathway | 51/2092 | 121/8465 | 1.71e-05 | 1.73e-04 | 1.10e-04 | 51 |
hsa05205 | Colorectum | AD | Proteoglycans in cancer | 70/2092 | 205/8465 | 1.37e-03 | 8.46e-03 | 5.39e-03 | 70 |
hsa04810 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa04971 | Colorectum | AD | Gastric acid secretion | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa04260 | Colorectum | AD | Cardiac muscle contraction | 32/2092 | 87/8465 | 7.92e-03 | 3.13e-02 | 2.00e-02 | 32 |
hsa04972 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa049191 | Colorectum | AD | Thyroid hormone signaling pathway | 51/2092 | 121/8465 | 1.71e-05 | 1.73e-04 | 1.10e-04 | 51 |
hsa052051 | Colorectum | AD | Proteoglycans in cancer | 70/2092 | 205/8465 | 1.37e-03 | 8.46e-03 | 5.39e-03 | 70 |
hsa048101 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa049711 | Colorectum | AD | Gastric acid secretion | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa042601 | Colorectum | AD | Cardiac muscle contraction | 32/2092 | 87/8465 | 7.92e-03 | 3.13e-02 | 2.00e-02 | 32 |
hsa049721 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa049192 | Colorectum | SER | Thyroid hormone signaling pathway | 40/1580 | 121/8465 | 1.02e-04 | 1.06e-03 | 7.67e-04 | 40 |
hsa042602 | Colorectum | SER | Cardiac muscle contraction | 31/1580 | 87/8465 | 1.30e-04 | 1.30e-03 | 9.47e-04 | 31 |
hsa049712 | Colorectum | SER | Gastric acid secretion | 27/1580 | 76/8465 | 3.65e-04 | 3.27e-03 | 2.38e-03 | 27 |
hsa052052 | Colorectum | SER | Proteoglycans in cancer | 58/1580 | 205/8465 | 4.37e-04 | 3.82e-03 | 2.77e-03 | 58 |
hsa048102 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa049722 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa049193 | Colorectum | SER | Thyroid hormone signaling pathway | 40/1580 | 121/8465 | 1.02e-04 | 1.06e-03 | 7.67e-04 | 40 |
hsa042603 | Colorectum | SER | Cardiac muscle contraction | 31/1580 | 87/8465 | 1.30e-04 | 1.30e-03 | 9.47e-04 | 31 |
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 |
SLC9A1 | SNV | Missense_Mutation | | c.17N>A | p.Gly6Asp | p.G6D | P19634 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.672) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SLC9A1 | SNV | Missense_Mutation | novel | c.1710G>T | p.Glu570Asp | p.E570D | P19634 | protein_coding | deleterious(0.02) | benign(0.119) | TCGA-C8-A1HK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC9A1 | SNV | Missense_Mutation | | c.2054N>A | p.Thr685Lys | p.T685K | P19634 | protein_coding | deleterious(0.01) | benign(0.042) | TCGA-E2-A1IK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SLC9A1 | insertion | In_Frame_Ins | novel | c.984_985insTTTGGGAGG | p.Val328_Ile329insPheGlyArg | p.V328_I329insFGR | P19634 | protein_coding | | | TCGA-AN-A0AL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SLC9A1 | insertion | Frame_Shift_Ins | novel | c.983_984insGGCTCACGCCTGTAATCCCAGCA | p.Ile329AlafsTer37 | p.I329Afs*37 | P19634 | protein_coding | | | TCGA-AN-A0AL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SLC9A1 | deletion | Frame_Shift_Del | | c.431delN | p.Gly144AlafsTer2 | p.G144Afs*2 | P19634 | protein_coding | | | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC9A1 | SNV | Missense_Mutation | novel | c.134C>T | p.Thr45Ile | p.T45I | P19634 | protein_coding | deleterious_low_confidence(0.03) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SLC9A1 | SNV | Missense_Mutation | rs556347900 | c.2342N>T | p.Ala781Val | p.A781V | P19634 | protein_coding | deleterious(0.03) | benign(0.03) | TCGA-BI-A0VS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SLC9A1 | SNV | Missense_Mutation | novel | c.294N>A | p.His98Gln | p.H98Q | P19634 | protein_coding | deleterious(0.01) | possibly_damaging(0.612) | TCGA-C5-A8YT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
SLC9A1 | SNV | Missense_Mutation | | c.487N>T | p.Leu163Phe | p.L163F | P19634 | protein_coding | deleterious(0.03) | benign(0.12) | TCGA-EX-A69M-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |