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:00508789 | Breast | Precancer | regulation of body fluid levels | 40/1080 | 379/18723 | 1.68e-04 | 2.77e-03 | 40 |
GO:00705278 | Breast | Precancer | platelet aggregation | 12/1080 | 67/18723 | 4.02e-04 | 5.43e-03 | 12 |
GO:00075995 | Breast | Precancer | hemostasis | 24/1080 | 222/18723 | 2.31e-03 | 2.15e-02 | 24 |
GO:00075965 | Breast | Precancer | blood coagulation | 23/1080 | 217/18723 | 3.61e-03 | 2.98e-02 | 23 |
GO:00508175 | Breast | Precancer | coagulation | 23/1080 | 222/18723 | 4.78e-03 | 3.64e-02 | 23 |
GO:0030168 | Breast | Precancer | platelet activation | 15/1080 | 123/18723 | 4.80e-03 | 3.64e-02 | 15 |
GO:00226049 | Breast | Precancer | regulation of cell morphogenesis | 29/1080 | 309/18723 | 6.88e-03 | 4.67e-02 | 29 |
GO:003410913 | Breast | IDC | homotypic cell-cell adhesion | 20/1434 | 90/18723 | 1.20e-05 | 3.17e-04 | 20 |
GO:004206014 | Breast | IDC | wound healing | 55/1434 | 422/18723 | 7.27e-05 | 1.45e-03 | 55 |
GO:005087813 | Breast | IDC | regulation of body fluid levels | 50/1434 | 379/18723 | 1.12e-04 | 2.10e-03 | 50 |
GO:007052713 | Breast | IDC | platelet aggregation | 12/1434 | 67/18723 | 4.53e-03 | 3.49e-02 | 12 |
GO:00726599 | Breast | IDC | protein localization to plasma membrane | 34/1434 | 284/18723 | 6.33e-03 | 4.47e-02 | 34 |
GO:005087823 | Breast | DCIS | regulation of body fluid levels | 50/1390 | 379/18723 | 5.17e-05 | 1.06e-03 | 50 |
GO:004206024 | Breast | DCIS | wound healing | 54/1390 | 422/18723 | 6.09e-05 | 1.22e-03 | 54 |
GO:003410923 | Breast | DCIS | homotypic cell-cell adhesion | 18/1390 | 90/18723 | 9.33e-05 | 1.71e-03 | 18 |
GO:004206010 | Cervix | CC | wound healing | 109/2311 | 422/18723 | 1.84e-14 | 1.57e-11 | 109 |
GO:002260410 | Cervix | CC | regulation of cell morphogenesis | 84/2311 | 309/18723 | 1.00e-12 | 4.29e-10 | 84 |
GO:007265910 | Cervix | CC | protein localization to plasma membrane | 73/2311 | 284/18723 | 4.95e-10 | 6.73e-08 | 73 |
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 |
MYL12A | SNV | Missense_Mutation | | c.529N>A | p.Asp177Asn | p.D177N | | protein_coding | tolerated(0.06) | benign(0.058) | TCGA-BH-A0DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
MYL12A | SNV | Missense_Mutation | | c.101C>T | p.Ser34Leu | p.S34L | | protein_coding | deleterious(0) | possibly_damaging(0.868) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MYL12A | SNV | Missense_Mutation | | c.362N>A | p.Gly121Asp | p.G121D | | protein_coding | deleterious(0.01) | possibly_damaging(0.478) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MYL12A | SNV | Missense_Mutation | | c.214N>A | p.Asp72Asn | p.D72N | | protein_coding | tolerated(0.49) | benign(0.009) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
MYL12A | insertion | Frame_Shift_Ins | novel | c.77_78insGATTACT | p.Asn26LysfsTer9 | p.N26Kfs*9 | | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | novel | c.171A>C | p.Glu57Asp | p.E57D | | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | rs764366847 | c.55C>T | p.Arg19Cys | p.R19C | | protein_coding | deleterious(0.05) | probably_damaging(0.993) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MYL12A | SNV | Missense_Mutation | rs199590891 | c.64C>T | p.Arg22Cys | p.R22C | | protein_coding | tolerated(0.15) | benign(0) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | novel | c.270G>A | p.Met90Ile | p.M90I | | protein_coding | tolerated(0.09) | benign(0.001) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | rs11539726 | c.133A>G | p.Met45Val | p.M45V | | protein_coding | tolerated(0.29) | benign(0.003) | TCGA-AX-A1C4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |