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 |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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:0052548112 | Skin | SCCIS | regulation of endopeptidase activity | 43/919 | 432/18723 | 8.92e-06 | 3.22e-04 | 43 |
GO:0051098112 | Skin | SCCIS | regulation of binding | 38/919 | 363/18723 | 9.41e-06 | 3.35e-04 | 38 |
GO:007167413 | Skin | SCCIS | mononuclear cell migration | 25/919 | 196/18723 | 1.19e-05 | 4.10e-04 | 25 |
GO:007167515 | Skin | SCCIS | regulation of mononuclear cell migration | 18/919 | 115/18723 | 1.22e-05 | 4.13e-04 | 18 |
GO:005080814 | Skin | SCCIS | synapse organization | 42/919 | 426/18723 | 1.43e-05 | 4.70e-04 | 42 |
GO:007037114 | Skin | SCCIS | ERK1 and ERK2 cascade | 35/919 | 330/18723 | 1.59e-05 | 4.98e-04 | 35 |
GO:007267811 | Skin | SCCIS | T cell migration | 13/919 | 66/18723 | 1.60e-05 | 4.98e-04 | 13 |
GO:0051346111 | Skin | SCCIS | negative regulation of hydrolase activity | 38/919 | 379/18723 | 2.49e-05 | 6.97e-04 | 38 |
GO:004632815 | Skin | SCCIS | regulation of JNK cascade | 19/919 | 133/18723 | 2.68e-05 | 7.41e-04 | 19 |
GO:0031331112 | Skin | SCCIS | positive regulation of cellular catabolic process | 41/919 | 427/18723 | 3.33e-05 | 8.88e-04 | 41 |
GO:00301985 | Skin | SCCIS | extracellular matrix organization | 32/919 | 301/18723 | 3.46e-05 | 9.17e-04 | 32 |
GO:00430625 | Skin | SCCIS | extracellular structure organization | 32/919 | 302/18723 | 3.69e-05 | 9.65e-04 | 32 |
GO:00452295 | Skin | SCCIS | external encapsulating structure organization | 32/919 | 304/18723 | 4.20e-05 | 1.06e-03 | 32 |
GO:0010951110 | Skin | SCCIS | negative regulation of endopeptidase activity | 28/919 | 252/18723 | 4.82e-05 | 1.18e-03 | 28 |
GO:007167713 | Skin | SCCIS | positive regulation of mononuclear cell migration | 12/919 | 65/18723 | 6.61e-05 | 1.58e-03 | 12 |
GO:007055512 | Skin | SCCIS | response to interleukin-1 | 19/919 | 143/18723 | 7.39e-05 | 1.71e-03 | 19 |
GO:006056017 | Skin | SCCIS | developmental growth involved in morphogenesis | 26/919 | 234/18723 | 8.85e-05 | 2.01e-03 | 26 |
GO:0010466110 | Skin | SCCIS | negative regulation of peptidase activity | 28/919 | 262/18723 | 9.55e-05 | 2.12e-03 | 28 |
GO:006109711 | Skin | SCCIS | regulation of protein tyrosine kinase activity | 14/919 | 90/18723 | 1.19e-04 | 2.49e-03 | 14 |
GO:00703725 | Skin | SCCIS | regulation of ERK1 and ERK2 cascade | 31/919 | 309/18723 | 1.34e-04 | 2.77e-03 | 31 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501016 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0501017 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
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 |
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 |
hsa0501044 | Cervix | N_HPV | Alzheimer disease | 41/349 | 384/8465 | 1.50e-08 | 3.13e-07 | 2.45e-07 | 41 |
hsa0501054 | Cervix | N_HPV | Alzheimer disease | 41/349 | 384/8465 | 1.50e-08 | 3.13e-07 | 2.45e-07 | 41 |
hsa05010 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa050101 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa050102 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050222 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa050103 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050223 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
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 |
APP | SNV | Missense_Mutation | novel | c.1701G>C | p.Gln567His | p.Q567H | P05067 | protein_coding | tolerated(0.1) | possibly_damaging(0.906) | TCGA-A2-A0CR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
APP | SNV | Missense_Mutation | rs201093867 | c.710N>G | p.Val237Gly | p.V237G | P05067 | protein_coding | tolerated(0.37) | benign(0.018) | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD |
APP | SNV | Missense_Mutation | | c.533A>G | p.Lys178Arg | p.K178R | P05067 | protein_coding | tolerated(1) | benign(0.007) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APP | SNV | Missense_Mutation | | c.853G>C | p.Glu285Gln | p.E285Q | P05067 | protein_coding | tolerated(0.17) | benign(0.403) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
APP | SNV | Missense_Mutation | rs199549173 | c.1406N>A | p.Arg469His | p.R469H | P05067 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AC-A6IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APP | SNV | Missense_Mutation | rs760615902 | c.1666N>A | p.Glu556Lys | p.E556K | P05067 | protein_coding | deleterious(0.01) | benign(0.132) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APP | SNV | Missense_Mutation | rs200521782 | c.1690G>C | p.Glu564Gln | p.E564Q | P05067 | protein_coding | deleterious(0.01) | possibly_damaging(0.757) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
APP | SNV | Missense_Mutation | rs201093867 | c.710T>G | p.Val237Gly | p.V237G | P05067 | protein_coding | tolerated(0.37) | benign(0.018) | TCGA-B6-A0I5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APP | SNV | Missense_Mutation | | c.124N>C | p.Asn42His | p.N42H | P05067 | protein_coding | deleterious(0) | possibly_damaging(0.899) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APP | SNV | Missense_Mutation | rs201093867 | c.710T>G | p.Val237Gly | p.V237G | P05067 | protein_coding | tolerated(0.37) | benign(0.018) | TCGA-BH-A1F2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | GENTIAN VIOLET | GENTIAN VIOLET | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | ALZ-801 | | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | Affitope AD-01 | | 22506132 |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | AAB-003/PF-05236812 | | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | CHEMBL2109300 | GSK933776 | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | MABT5102A | CRENEZUMAB | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | MER-5101 | | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | AAB-002 | | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | Gantenerumab | GANTENERUMAB | |
351 | APP | DRUGGABLE GENOME, PROTEASE INHIBITOR, CELL SURFACE | | Systebryl | | |