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 |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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:00309019 | Cervix | CC | midbrain development | 26/2311 | 90/18723 | 2.12e-05 | 3.82e-04 | 26 |
GO:002176210 | Cervix | CC | substantia nigra development | 16/2311 | 44/18723 | 3.81e-05 | 5.99e-04 | 16 |
GO:00488579 | Cervix | CC | neural nucleus development | 18/2311 | 64/18723 | 5.42e-04 | 5.23e-03 | 18 |
GO:0021762 | Colorectum | AD | substantia nigra development | 21/3918 | 44/18723 | 6.60e-05 | 1.07e-03 | 21 |
GO:0048857 | Colorectum | AD | neural nucleus development | 27/3918 | 64/18723 | 9.57e-05 | 1.45e-03 | 27 |
GO:0071539 | Colorectum | AD | protein localization to centrosome | 16/3918 | 33/18723 | 3.86e-04 | 4.41e-03 | 16 |
GO:1905508 | Colorectum | AD | protein localization to microtubule organizing center | 16/3918 | 35/18723 | 8.76e-04 | 8.51e-03 | 16 |
GO:0030901 | Colorectum | AD | midbrain development | 32/3918 | 90/18723 | 9.45e-04 | 8.95e-03 | 32 |
GO:00217621 | Colorectum | SER | substantia nigra development | 21/2897 | 44/18723 | 4.77e-07 | 2.40e-05 | 21 |
GO:00488571 | Colorectum | SER | neural nucleus development | 26/2897 | 64/18723 | 1.09e-06 | 5.11e-05 | 26 |
GO:00309011 | Colorectum | SER | midbrain development | 29/2897 | 90/18723 | 5.50e-05 | 1.30e-03 | 29 |
GO:00217622 | Colorectum | MSS | substantia nigra development | 21/3467 | 44/18723 | 9.54e-06 | 2.33e-04 | 21 |
GO:00488572 | Colorectum | MSS | neural nucleus development | 26/3467 | 64/18723 | 3.19e-05 | 6.30e-04 | 26 |
GO:00715391 | Colorectum | MSS | protein localization to centrosome | 16/3467 | 33/18723 | 8.66e-05 | 1.40e-03 | 16 |
GO:19055081 | Colorectum | MSS | protein localization to microtubule organizing center | 16/3467 | 35/18723 | 2.07e-04 | 2.89e-03 | 16 |
GO:00309012 | Colorectum | MSS | midbrain development | 31/3467 | 90/18723 | 2.36e-04 | 3.24e-03 | 31 |
GO:0044380 | Colorectum | MSS | protein localization to cytoskeleton | 19/3467 | 58/18723 | 6.69e-03 | 4.38e-02 | 19 |
GO:0072698 | Colorectum | MSS | protein localization to microtubule cytoskeleton | 18/3467 | 54/18723 | 6.70e-03 | 4.38e-02 | 18 |
GO:00715392 | Colorectum | FAP | protein localization to centrosome | 14/2622 | 33/18723 | 6.39e-05 | 1.23e-03 | 14 |
GO:19055082 | Colorectum | FAP | protein localization to microtubule organizing center | 14/2622 | 35/18723 | 1.38e-04 | 2.18e-03 | 14 |
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 |
CCDC14 | SNV | Missense_Mutation | | c.1394G>C | p.Arg465Thr | p.R465T | Q49A88 | protein_coding | deleterious(0.01) | benign(0.096) | TCGA-A2-A0CL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
CCDC14 | SNV | Missense_Mutation | rs372947520 | c.2045N>G | p.Thr682Ser | p.T682S | Q49A88 | protein_coding | tolerated(0.53) | benign(0) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CCDC14 | SNV | Missense_Mutation | | c.116N>G | p.Ser39Trp | p.S39W | Q49A88 | protein_coding | tolerated_low_confidence(0.2) | benign(0.001) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CCDC14 | SNV | Missense_Mutation | novel | c.806N>C | p.Gly269Ala | p.G269A | Q49A88 | protein_coding | tolerated(0.24) | benign(0.027) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
CCDC14 | SNV | Missense_Mutation | | c.679N>T | p.Pro227Ser | p.P227S | Q49A88 | protein_coding | tolerated(0.81) | benign(0.046) | TCGA-B6-A0WV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC14 | SNV | Missense_Mutation | | c.1682N>C | p.Leu561Pro | p.L561P | Q49A88 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC14 | SNV | Missense_Mutation | | c.2129N>T | p.Ser710Phe | p.S710F | Q49A88 | protein_coding | tolerated(0.62) | benign(0.146) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
CCDC14 | SNV | Missense_Mutation | | c.1269N>G | p.Ile423Met | p.I423M | Q49A88 | protein_coding | deleterious(0.02) | possibly_damaging(0.882) | TCGA-E9-A1RA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CCDC14 | deletion | Frame_Shift_Del | | c.228delA | p.Ala77ArgfsTer4 | p.A77Rfs*4 | Q49A88 | protein_coding | | | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CCDC14 | insertion | Frame_Shift_Ins | novel | c.1883_1884insGTCTCTCCCTCCTCTAATCCTTCCTATTTACT | p.Leu631ProfsTer12 | p.L631Pfs*12 | Q49A88 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |