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:1903036 | Stomach | GC | positive regulation of response to wounding | 13/1159 | 72/18723 | 4.25e-04 | 6.35e-03 | 13 |
GO:00310325 | Stomach | GC | actomyosin structure organization | 25/1159 | 196/18723 | 4.72e-04 | 6.84e-03 | 25 |
GO:01201924 | Stomach | GC | tight junction assembly | 13/1159 | 74/18723 | 5.60e-04 | 7.80e-03 | 13 |
GO:00508786 | Stomach | GC | regulation of body fluid levels | 40/1159 | 379/18723 | 6.92e-04 | 9.20e-03 | 40 |
GO:00903034 | Stomach | GC | positive regulation of wound healing | 11/1159 | 59/18723 | 8.75e-04 | 1.09e-02 | 11 |
GO:00341096 | Stomach | GC | homotypic cell-cell adhesion | 14/1159 | 90/18723 | 1.22e-03 | 1.39e-02 | 14 |
GO:01501155 | Stomach | GC | cell-substrate junction organization | 15/1159 | 101/18723 | 1.35e-03 | 1.49e-02 | 15 |
GO:00343295 | Stomach | GC | cell junction assembly | 42/1159 | 420/18723 | 1.50e-03 | 1.62e-02 | 42 |
GO:00070445 | Stomach | GC | cell-substrate junction assembly | 14/1159 | 95/18723 | 2.07e-03 | 2.09e-02 | 14 |
GO:00019525 | Stomach | GC | regulation of cell-matrix adhesion | 17/1159 | 128/18723 | 2.33e-03 | 2.25e-02 | 17 |
GO:01501165 | Stomach | GC | regulation of cell-substrate junction organization | 11/1159 | 71/18723 | 4.07e-03 | 3.41e-02 | 11 |
GO:00356332 | Stomach | GC | maintenance of blood-brain barrier | 7/1159 | 35/18723 | 4.99e-03 | 3.96e-02 | 7 |
GO:00071605 | Stomach | GC | cell-matrix adhesion | 25/1159 | 233/18723 | 5.24e-03 | 4.11e-02 | 25 |
GO:000701511 | Stomach | CAG with IM | actin filament organization | 62/1050 | 442/18723 | 2.23e-11 | 4.96e-09 | 62 |
GO:000189411 | Stomach | CAG with IM | tissue homeostasis | 42/1050 | 268/18723 | 1.40e-09 | 1.74e-07 | 42 |
GO:006024911 | Stomach | CAG with IM | anatomical structure homeostasis | 46/1050 | 314/18723 | 2.18e-09 | 2.64e-07 | 46 |
GO:003297011 | Stomach | CAG with IM | regulation of actin filament-based process | 53/1050 | 397/18723 | 3.83e-09 | 3.86e-07 | 53 |
GO:190290311 | Stomach | CAG with IM | regulation of supramolecular fiber organization | 51/1050 | 383/18723 | 8.25e-09 | 7.45e-07 | 51 |
GO:011005311 | Stomach | CAG with IM | regulation of actin filament organization | 40/1050 | 278/18723 | 4.04e-08 | 3.21e-06 | 40 |
GO:003295611 | Stomach | CAG with IM | regulation of actin cytoskeleton organization | 47/1050 | 358/18723 | 4.93e-08 | 3.70e-06 | 47 |
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 |
ACTG1 | SNV | Missense_Mutation | novel | c.83G>T | p.Arg28Leu | p.R28L | P63261 | protein_coding | deleterious_low_confidence(0.01) | benign(0) | TCGA-AC-A2BK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
ACTG1 | SNV | Missense_Mutation | novel | c.356N>C | p.Met119Thr | p.M119T | P63261 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.969) | TCGA-AC-A3QP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
ACTG1 | SNV | Missense_Mutation | novel | c.242N>G | p.Asp81Gly | p.D81G | P63261 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.998) | TCGA-C8-A3M8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
ACTG1 | SNV | Missense_Mutation | | c.727C>G | p.Pro243Ala | p.P243A | P63261 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.951) | TCGA-D8-A146-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACTG1 | SNV | Missense_Mutation | | c.614N>G | p.Glu205Gly | p.E205G | P63261 | protein_coding | deleterious_low_confidence(0.01) | benign(0.201) | TCGA-E2-A1LS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cyclophosphamide | SD |
ACTG1 | insertion | Nonsense_Mutation | novel | c.170_171insTGCACACACCTCATGCTAGCCTCACGAAACT | p.Glu57AspfsTer7 | p.E57Dfs*7 | P63261 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACTG1 | insertion | Frame_Shift_Ins | novel | c.379_380insCCCCCACGCCATCCTGCGTCTG | p.Phe127SerfsTer76 | p.F127Sfs*76 | P63261 | protein_coding | | | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ACTG1 | insertion | Frame_Shift_Ins | novel | c.983_984insCGTGCTTGTGGAAGACAAGTCTGTGGCTT | p.Lys328AsnfsTer11 | p.K328Nfs*11 | P63261 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ACTG1 | SNV | Missense_Mutation | novel | c.965N>T | p.Pro322Leu | p.P322L | P63261 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.466) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACTG1 | SNV | Missense_Mutation | | c.757N>A | p.Glu253Lys | p.E253K | P63261 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.999) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |