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:00341099 | Breast | Precancer | homotypic cell-cell adhesion | 18/1080 | 90/18723 | 3.15e-06 | 1.03e-04 | 18 |
GO:00420609 | Breast | Precancer | wound healing | 48/1080 | 422/18723 | 5.48e-06 | 1.63e-04 | 48 |
GO:19029039 | Breast | Precancer | regulation of supramolecular fiber organization | 42/1080 | 383/18723 | 4.92e-05 | 1.04e-03 | 42 |
GO:00329709 | Breast | Precancer | regulation of actin filament-based process | 42/1080 | 397/18723 | 1.11e-04 | 2.01e-03 | 42 |
GO:00508789 | Breast | Precancer | regulation of body fluid levels | 40/1080 | 379/18723 | 1.68e-04 | 2.77e-03 | 40 |
GO:00070159 | Breast | Precancer | actin filament organization | 44/1080 | 442/18723 | 3.02e-04 | 4.35e-03 | 44 |
GO:00705278 | Breast | Precancer | platelet aggregation | 12/1080 | 67/18723 | 4.02e-04 | 5.43e-03 | 12 |
GO:00356335 | Breast | Precancer | maintenance of blood-brain barrier | 8/1080 | 35/18723 | 6.95e-04 | 8.43e-03 | 8 |
GO:19030367 | Breast | Precancer | positive regulation of response to wounding | 12/1080 | 72/18723 | 7.90e-04 | 9.30e-03 | 12 |
GO:00329569 | Breast | Precancer | regulation of actin cytoskeleton organization | 36/1080 | 358/18723 | 8.56e-04 | 9.88e-03 | 36 |
GO:01100539 | Breast | Precancer | regulation of actin filament organization | 29/1080 | 278/18723 | 1.50e-03 | 1.55e-02 | 29 |
GO:00018956 | Breast | Precancer | retina homeostasis | 12/1080 | 79/18723 | 1.82e-03 | 1.79e-02 | 12 |
GO:00903036 | Breast | Precancer | positive regulation of wound healing | 10/1080 | 59/18723 | 1.86e-03 | 1.81e-02 | 10 |
GO:00514929 | Breast | Precancer | regulation of stress fiber assembly | 13/1080 | 91/18723 | 2.11e-03 | 2.00e-02 | 13 |
GO:00075995 | Breast | Precancer | hemostasis | 24/1080 | 222/18723 | 2.31e-03 | 2.15e-02 | 24 |
GO:00300389 | Breast | Precancer | contractile actin filament bundle assembly | 14/1080 | 106/18723 | 3.07e-03 | 2.62e-02 | 14 |
GO:00431499 | Breast | Precancer | stress fiber assembly | 14/1080 | 106/18723 | 3.07e-03 | 2.62e-02 | 14 |
GO:00018948 | Breast | Precancer | tissue homeostasis | 27/1080 | 268/18723 | 3.49e-03 | 2.90e-02 | 27 |
GO:19030348 | Breast | Precancer | regulation of response to wounding | 19/1080 | 167/18723 | 3.60e-03 | 2.98e-02 | 19 |
GO:00075965 | Breast | Precancer | blood coagulation | 23/1080 | 217/18723 | 3.61e-03 | 2.98e-02 | 23 |
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 |