Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
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 |
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:00217629 | Breast | Precancer | substantia nigra development | 15/1080 | 44/18723 | 1.12e-08 | 7.98e-07 | 15 |
GO:00309018 | Breast | Precancer | midbrain development | 20/1080 | 90/18723 | 1.50e-07 | 7.93e-06 | 20 |
GO:00100389 | Breast | Precancer | response to metal ion | 47/1080 | 373/18723 | 3.88e-07 | 1.79e-05 | 47 |
GO:00488578 | Breast | Precancer | neural nucleus development | 16/1080 | 64/18723 | 4.76e-07 | 2.11e-05 | 16 |
GO:00511019 | Breast | Precancer | regulation of DNA binding | 22/1080 | 118/18723 | 9.28e-07 | 3.71e-05 | 22 |
GO:00433887 | Breast | Precancer | positive regulation of DNA binding | 14/1080 | 56/18723 | 2.46e-06 | 8.35e-05 | 14 |
GO:00510989 | Breast | Precancer | regulation of binding | 44/1080 | 363/18723 | 2.59e-06 | 8.65e-05 | 44 |
GO:00512358 | Breast | Precancer | maintenance of location | 40/1080 | 327/18723 | 5.85e-06 | 1.71e-04 | 40 |
GO:00516519 | Breast | Precancer | maintenance of location in cell | 30/1080 | 214/18723 | 5.91e-06 | 1.71e-04 | 30 |
GO:00510999 | Breast | Precancer | positive regulation of binding | 23/1080 | 173/18723 | 1.58e-04 | 2.68e-03 | 23 |
GO:19018445 | Breast | Precancer | regulation of cell communication by electrical coupling involved in cardiac conduction | 5/1080 | 11/18723 | 2.18e-04 | 3.35e-03 | 5 |
GO:00860643 | Breast | Precancer | cell communication by electrical coupling involved in cardiac conduction | 7/1080 | 25/18723 | 4.00e-04 | 5.42e-03 | 7 |
GO:00353049 | Breast | Precancer | regulation of protein dephosphorylation | 14/1080 | 90/18723 | 6.16e-04 | 7.72e-03 | 14 |
GO:00324116 | Breast | Precancer | positive regulation of transporter activity | 16/1080 | 120/18723 | 1.46e-03 | 1.51e-02 | 16 |
GO:00106493 | Breast | Precancer | regulation of cell communication by electrical coupling | 5/1080 | 16/18723 | 1.62e-03 | 1.64e-02 | 5 |
GO:00513423 | Breast | Precancer | regulation of cyclic-nucleotide phosphodiesterase activity | 4/1080 | 10/18723 | 1.75e-03 | 1.74e-02 | 4 |
GO:00106443 | Breast | Precancer | cell communication by electrical coupling | 7/1080 | 32/18723 | 1.97e-03 | 1.89e-02 | 7 |
GO:00515925 | Breast | Precancer | response to calcium ion | 18/1080 | 149/18723 | 2.37e-03 | 2.19e-02 | 18 |
GO:00603153 | Breast | Precancer | negative regulation of ryanodine-sensitive calcium-release channel activity | 4/1080 | 11/18723 | 2.62e-03 | 2.34e-02 | 4 |
GO:00336749 | Breast | Precancer | positive regulation of kinase activity | 42/1080 | 467/18723 | 2.94e-03 | 2.54e-02 | 42 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501224 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0501023 | Breast | IDC | Alzheimer disease | 107/867 | 384/8465 | 1.70e-23 | 7.88e-22 | 5.90e-22 | 107 |
hsa0502223 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0541824 | Breast | IDC | Fluid shear stress and atherosclerosis | 34/867 | 139/8465 | 9.41e-07 | 1.61e-05 | 1.20e-05 | 34 |
hsa0497122 | Breast | IDC | Gastric acid secretion | 16/867 | 76/8465 | 3.80e-03 | 2.33e-02 | 1.74e-02 | 16 |
hsa049704 | Breast | IDC | Salivary secretion | 18/867 | 93/8465 | 5.69e-03 | 3.13e-02 | 2.34e-02 | 18 |
hsa0517014 | Breast | IDC | Human immunodeficiency virus 1 infection | 33/867 | 212/8465 | 9.28e-03 | 4.37e-02 | 3.27e-02 | 33 |
hsa0501234 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0501033 | Breast | IDC | Alzheimer disease | 107/867 | 384/8465 | 1.70e-23 | 7.88e-22 | 5.90e-22 | 107 |
hsa0502233 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0541834 | Breast | IDC | Fluid shear stress and atherosclerosis | 34/867 | 139/8465 | 9.41e-07 | 1.61e-05 | 1.20e-05 | 34 |
hsa0497132 | Breast | IDC | Gastric acid secretion | 16/867 | 76/8465 | 3.80e-03 | 2.33e-02 | 1.74e-02 | 16 |
hsa0497011 | Breast | IDC | Salivary secretion | 18/867 | 93/8465 | 5.69e-03 | 3.13e-02 | 2.34e-02 | 18 |
hsa0517015 | Breast | IDC | Human immunodeficiency virus 1 infection | 33/867 | 212/8465 | 9.28e-03 | 4.37e-02 | 3.27e-02 | 33 |
hsa0501243 | Breast | DCIS | Parkinson disease | 106/846 | 266/8465 | 1.64e-39 | 5.29e-37 | 3.90e-37 | 106 |
hsa0501043 | Breast | DCIS | Alzheimer disease | 105/846 | 384/8465 | 3.23e-23 | 1.49e-21 | 1.10e-21 | 105 |
hsa0502243 | Breast | DCIS | Pathways of neurodegeneration - multiple diseases | 114/846 | 476/8465 | 4.74e-20 | 1.53e-18 | 1.13e-18 | 114 |
hsa0491542 | Breast | DCIS | Estrogen signaling pathway | 35/846 | 138/8465 | 1.40e-07 | 2.51e-06 | 1.85e-06 | 35 |
hsa0541844 | Breast | DCIS | Fluid shear stress and atherosclerosis | 34/846 | 139/8465 | 5.31e-07 | 9.03e-06 | 6.65e-06 | 34 |
hsa0421844 | Breast | DCIS | Cellular senescence | 34/846 | 156/8465 | 8.53e-06 | 1.06e-04 | 7.80e-05 | 34 |
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 |
CALM2 | SNV | Missense_Mutation | | c.39C>G | p.Phe13Leu | p.F13L | P62158 | protein_coding | deleterious_low_confidence(0.03) | benign(0.206) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CALM2 | SNV | Missense_Mutation | | c.193G>C | p.Asp65His | p.D65H | P62158 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.845) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
CALM2 | SNV | Missense_Mutation | | c.319N>T | p.Arg107Cys | p.R107C | P62158 | protein_coding | tolerated_low_confidence(0.07) | benign(0.015) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
CALM2 | SNV | Missense_Mutation | | c.77N>A | p.Gly26Glu | p.G26E | P62158 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.903) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CALM2 | SNV | Missense_Mutation | novel | c.334A>G | p.Asn112Asp | p.N112D | P62158 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.623) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CALM2 | SNV | Missense_Mutation | | c.319N>T | p.Arg107Cys | p.R107C | P62158 | protein_coding | tolerated_low_confidence(0.07) | benign(0.015) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
CALM2 | SNV | Missense_Mutation | | c.185G>A | p.Gly62Asp | p.G62D | P62158 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.89) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CALM2 | SNV | Missense_Mutation | | c.343N>A | p.Glu115Lys | p.E115K | P62158 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.851) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
CALM2 | SNV | Missense_Mutation | novel | c.345N>T | p.Glu115Asp | p.E115D | P62158 | protein_coding | deleterious_low_confidence(0.02) | benign(0.337) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CALM2 | SNV | Missense_Mutation | | c.185N>A | p.Gly62Asp | p.G62D | P62158 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.89) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |