Tissue | Expression Dynamics | Abbreviation |
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:00506707 | Skin | SCCIS | regulation of lymphocyte proliferation | 23/919 | 225/18723 | 7.26e-04 | 1.03e-02 | 23 |
GO:003287319 | Skin | SCCIS | negative regulation of stress-activated MAPK cascade | 9/919 | 51/18723 | 7.53e-04 | 1.03e-02 | 9 |
GO:007030319 | Skin | SCCIS | negative regulation of stress-activated protein kinase signaling cascade | 9/919 | 51/18723 | 7.53e-04 | 1.03e-02 | 9 |
GO:004212916 | Skin | SCCIS | regulation of T cell proliferation | 19/919 | 171/18723 | 7.54e-04 | 1.03e-02 | 19 |
GO:004209818 | Skin | SCCIS | T cell proliferation | 21/919 | 199/18723 | 8.06e-04 | 1.09e-02 | 21 |
GO:004484315 | Skin | SCCIS | cell cycle G1/S phase transition | 24/919 | 241/18723 | 8.16e-04 | 1.10e-02 | 24 |
GO:0032956112 | Skin | SCCIS | regulation of actin cytoskeleton organization | 32/919 | 358/18723 | 8.18e-04 | 1.10e-02 | 32 |
GO:00329446 | Skin | SCCIS | regulation of mononuclear cell proliferation | 23/919 | 227/18723 | 8.20e-04 | 1.10e-02 | 23 |
GO:000008215 | Skin | SCCIS | G1/S transition of mitotic cell cycle | 22/919 | 214/18723 | 8.70e-04 | 1.14e-02 | 22 |
GO:005165619 | Skin | SCCIS | establishment of organelle localization | 34/919 | 390/18723 | 8.85e-04 | 1.15e-02 | 34 |
GO:004255212 | Skin | SCCIS | myelination | 16/919 | 134/18723 | 8.87e-04 | 1.15e-02 | 16 |
GO:007200914 | Skin | SCCIS | nephron epithelium development | 14/919 | 109/18723 | 8.90e-04 | 1.15e-02 | 14 |
GO:00706619 | Skin | SCCIS | leukocyte proliferation | 29/919 | 318/18723 | 1.03e-03 | 1.28e-02 | 29 |
GO:000727212 | Skin | SCCIS | ensheathment of neurons | 16/919 | 136/18723 | 1.04e-03 | 1.28e-02 | 16 |
GO:000836612 | Skin | SCCIS | axon ensheathment | 16/919 | 136/18723 | 1.04e-03 | 1.28e-02 | 16 |
GO:005196013 | Skin | SCCIS | regulation of nervous system development | 37/919 | 443/18723 | 1.18e-03 | 1.40e-02 | 37 |
GO:005068011 | Skin | SCCIS | negative regulation of epithelial cell proliferation | 18/919 | 164/18723 | 1.18e-03 | 1.40e-02 | 18 |
GO:1904375110 | Skin | SCCIS | regulation of protein localization to cell periphery | 15/919 | 125/18723 | 1.21e-03 | 1.42e-02 | 15 |
GO:1902903112 | Skin | SCCIS | regulation of supramolecular fiber organization | 33/919 | 383/18723 | 1.27e-03 | 1.49e-02 | 33 |
GO:000165515 | Skin | SCCIS | urogenital system development | 30/919 | 338/18723 | 1.31e-03 | 1.52e-02 | 30 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516620 | Cervix | CC | Human T-cell leukemia virus 1 infection | 61/1267 | 222/8465 | 8.13e-07 | 7.98e-06 | 4.72e-06 | 61 |
hsa0453020 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa043908 | Cervix | CC | Hippo signaling pathway | 40/1267 | 157/8465 | 3.64e-04 | 1.82e-03 | 1.07e-03 | 40 |
hsa046604 | Cervix | CC | T cell receptor signaling pathway | 25/1267 | 104/8465 | 9.52e-03 | 2.94e-02 | 1.74e-02 | 25 |
hsa05166110 | Cervix | CC | Human T-cell leukemia virus 1 infection | 61/1267 | 222/8465 | 8.13e-07 | 7.98e-06 | 4.72e-06 | 61 |
hsa04530110 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa0439013 | Cervix | CC | Hippo signaling pathway | 40/1267 | 157/8465 | 3.64e-04 | 1.82e-03 | 1.07e-03 | 40 |
hsa0466011 | Cervix | CC | T cell receptor signaling pathway | 25/1267 | 104/8465 | 9.52e-03 | 2.94e-02 | 1.74e-02 | 25 |
hsa04530 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
hsa05166 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
hsa045301 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
hsa051661 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
hsa045302 | Colorectum | SER | Tight junction | 59/1580 | 169/8465 | 3.24e-07 | 5.98e-06 | 4.34e-06 | 59 |
hsa045303 | Colorectum | SER | Tight junction | 59/1580 | 169/8465 | 3.24e-07 | 5.98e-06 | 4.34e-06 | 59 |
hsa045304 | Colorectum | MSS | Tight junction | 66/1875 | 169/8465 | 4.10e-07 | 6.25e-06 | 3.83e-06 | 66 |
hsa051662 | Colorectum | MSS | Human T-cell leukemia virus 1 infection | 68/1875 | 222/8465 | 1.84e-03 | 9.61e-03 | 5.89e-03 | 68 |
hsa04390 | Colorectum | MSS | Hippo signaling pathway | 48/1875 | 157/8465 | 8.32e-03 | 3.10e-02 | 1.90e-02 | 48 |
hsa045305 | Colorectum | MSS | Tight junction | 66/1875 | 169/8465 | 4.10e-07 | 6.25e-06 | 3.83e-06 | 66 |
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 |
DLG1 | SNV | Missense_Mutation | novel | c.301N>A | p.Leu101Ile | p.L101I | Q12959 | protein_coding | tolerated_low_confidence(0.17) | possibly_damaging(0.689) | TCGA-A2-A4S1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DLG1 | SNV | Missense_Mutation | | c.731N>C | p.Asn244Thr | p.N244T | Q12959 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-A8-A083-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DLG1 | SNV | Missense_Mutation | novel | c.1434N>G | p.Phe478Leu | p.F478L | Q12959 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
DLG1 | SNV | Missense_Mutation | | c.16N>G | p.Gln6Glu | p.Q6E | Q12959 | protein_coding | tolerated(0.38) | benign(0) | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
DLG1 | SNV | Missense_Mutation | | c.1186N>T | p.Asp396Tyr | p.D396Y | Q12959 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-BH-A0AZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
DLG1 | SNV | Missense_Mutation | novel | c.2516N>C | p.Arg839Thr | p.R839T | Q12959 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A209-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DLG1 | SNV | Missense_Mutation | | c.2251G>T | p.Asp751Tyr | p.D751Y | Q12959 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DLG1 | SNV | Missense_Mutation | | c.1692G>A | p.Met564Ile | p.M564I | Q12959 | protein_coding | tolerated(0.07) | benign(0.406) | TCGA-D8-A1JJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
DLG1 | SNV | Missense_Mutation | novel | c.2013N>A | p.Phe671Leu | p.F671L | Q12959 | protein_coding | tolerated(0.92) | benign(0) | TCGA-E2-A1LG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
DLG1 | SNV | Missense_Mutation | novel | c.2432N>G | p.Tyr811Cys | p.Y811C | Q12959 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-LL-A740-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |