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 |
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:002260410 | Cervix | CC | regulation of cell morphogenesis | 84/2311 | 309/18723 | 1.00e-12 | 4.29e-10 | 84 |
GO:00083608 | Cervix | CC | regulation of cell shape | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:00605375 | Cervix | CC | muscle tissue development | 76/2311 | 403/18723 | 9.76e-05 | 1.27e-03 | 76 |
GO:00310329 | Cervix | CC | actomyosin structure organization | 43/2311 | 196/18723 | 1.11e-04 | 1.40e-03 | 43 |
GO:00147064 | Cervix | CC | striated muscle tissue development | 72/2311 | 384/18723 | 1.76e-04 | 2.07e-03 | 72 |
GO:00300487 | Cervix | CC | actin filament-based movement | 29/2311 | 127/18723 | 6.91e-04 | 6.33e-03 | 29 |
GO:00075173 | Cervix | CC | muscle organ development | 58/2311 | 327/18723 | 2.73e-03 | 1.85e-02 | 58 |
GO:00075192 | Cervix | CC | skeletal muscle tissue development | 30/2311 | 155/18723 | 7.97e-03 | 4.18e-02 | 30 |
GO:00075191 | Cervix | HSIL_HPV | skeletal muscle tissue development | 16/737 | 155/18723 | 4.13e-04 | 6.25e-03 | 16 |
GO:002260414 | Cervix | HSIL_HPV | regulation of cell morphogenesis | 25/737 | 309/18723 | 5.58e-04 | 7.93e-03 | 25 |
GO:00605381 | Cervix | HSIL_HPV | skeletal muscle organ development | 16/737 | 166/18723 | 8.78e-04 | 1.13e-02 | 16 |
GO:001470611 | Cervix | HSIL_HPV | striated muscle tissue development | 28/737 | 384/18723 | 1.35e-03 | 1.55e-02 | 28 |
GO:000751711 | Cervix | HSIL_HPV | muscle organ development | 24/737 | 327/18723 | 2.65e-03 | 2.55e-02 | 24 |
GO:006053712 | Cervix | HSIL_HPV | muscle tissue development | 28/737 | 403/18723 | 2.72e-03 | 2.59e-02 | 28 |
GO:003004813 | Cervix | HSIL_HPV | actin filament-based movement | 12/737 | 127/18723 | 4.37e-03 | 3.68e-02 | 12 |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:0008360 | Colorectum | AD | regulation of cell shape | 56/3918 | 154/18723 | 7.01e-06 | 1.73e-04 | 56 |
GO:0031032 | Colorectum | AD | actomyosin structure organization | 65/3918 | 196/18723 | 4.17e-05 | 7.37e-04 | 65 |
GO:0030048 | Colorectum | AD | actin filament-based movement | 44/3918 | 127/18723 | 2.31e-04 | 2.99e-03 | 44 |
GO:0070584 | Colorectum | AD | mitochondrion morphogenesis | 12/3918 | 21/18723 | 3.02e-04 | 3.62e-03 | 12 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0513020 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa0481016 | Cervix | CC | Regulation of actin cytoskeleton | 64/1267 | 229/8465 | 2.24e-07 | 2.59e-06 | 1.53e-06 | 64 |
hsa0453020 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa05130110 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa0481017 | Cervix | CC | Regulation of actin cytoskeleton | 64/1267 | 229/8465 | 2.24e-07 | 2.59e-06 | 1.53e-06 | 64 |
hsa04530110 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa0513025 | Cervix | HSIL_HPV | Pathogenic Escherichia coli infection | 28/459 | 197/8465 | 2.36e-06 | 4.61e-05 | 3.73e-05 | 28 |
hsa0513035 | Cervix | HSIL_HPV | Pathogenic Escherichia coli infection | 28/459 | 197/8465 | 2.36e-06 | 4.61e-05 | 3.73e-05 | 28 |
hsa04530 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
hsa05130 | Colorectum | AD | Pathogenic Escherichia coli infection | 79/2092 | 197/8465 | 1.05e-06 | 1.36e-05 | 8.65e-06 | 79 |
hsa04810 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa045301 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
hsa051301 | Colorectum | AD | Pathogenic Escherichia coli infection | 79/2092 | 197/8465 | 1.05e-06 | 1.36e-05 | 8.65e-06 | 79 |
hsa048101 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa045302 | Colorectum | SER | Tight junction | 59/1580 | 169/8465 | 3.24e-07 | 5.98e-06 | 4.34e-06 | 59 |
hsa051302 | Colorectum | SER | Pathogenic Escherichia coli infection | 60/1580 | 197/8465 | 3.63e-05 | 4.31e-04 | 3.13e-04 | 60 |
hsa048102 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa045303 | Colorectum | SER | Tight junction | 59/1580 | 169/8465 | 3.24e-07 | 5.98e-06 | 4.34e-06 | 59 |
hsa051303 | Colorectum | SER | Pathogenic Escherichia coli infection | 60/1580 | 197/8465 | 3.63e-05 | 4.31e-04 | 3.13e-04 | 60 |
hsa048103 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
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 |
MYH14 | SNV | Missense_Mutation | rs755751190 | c.1582C>T | p.Arg528Cys | p.R528C | Q7Z406 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-BH-A203-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MYH14 | SNV | Missense_Mutation | rs201746408 | c.3098N>T | p.Thr1033Met | p.T1033M | Q7Z406 | protein_coding | deleterious(0) | possibly_damaging(0.49) | TCGA-BH-AB28-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
MYH14 | SNV | Missense_Mutation | | c.2989C>T | p.Arg997Cys | p.R997C | Q7Z406 | protein_coding | deleterious(0.01) | probably_damaging(0.925) | TCGA-C8-A138-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MYH14 | SNV | Missense_Mutation | rs371272700 | c.1006N>T | p.Arg336Trp | p.R336W | Q7Z406 | protein_coding | deleterious(0) | probably_damaging(0.944) | TCGA-E9-A1NF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
MYH14 | SNV | Missense_Mutation | novel | c.5500N>A | p.Glu1834Lys | p.E1834K | Q7Z406 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-GM-A3NY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MYH14 | insertion | Frame_Shift_Ins | novel | c.637_638insA | p.Tyr214ValfsTer28 | p.Y214Vfs*28 | Q7Z406 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
MYH14 | insertion | Frame_Shift_Ins | novel | c.639_640insACCCAAGCTTTTCCTTACTCCCTGGGAA | p.Tyr214ThrfsTer37 | p.Y214Tfs*37 | Q7Z406 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
MYH14 | insertion | Frame_Shift_Ins | novel | c.4852_4853insGGTGCATGCATACATAC | p.Asp1618GlyfsTer14 | p.D1618Gfs*14 | Q7Z406 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYH14 | insertion | Nonsense_Mutation | novel | c.3767_3768insCTGAAATTCCCATCCTCTCTCCTTTCCCCCAATAAAGGTCCAA | p.Arg1256SerfsTer2 | p.R1256Sfs*2 | Q7Z406 | protein_coding | | | TCGA-BH-A0H9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MYH14 | deletion | Frame_Shift_Del | novel | c.2534delN | p.Asp846ThrfsTer29 | p.D846Tfs*29 | Q7Z406 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |