Tissue | Expression Dynamics | Abbreviation |
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 |
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:000734613 | Prostate | Tumor | regulation of mitotic cell cycle | 113/3246 | 457/18723 | 3.37e-05 | 3.96e-04 | 113 |
GO:004477214 | Prostate | Tumor | mitotic cell cycle phase transition | 106/3246 | 424/18723 | 3.61e-05 | 4.21e-04 | 106 |
GO:00000791 | Prostate | Tumor | regulation of cyclin-dependent protein serine/threonine kinase activity | 32/3246 | 94/18723 | 6.75e-05 | 7.21e-04 | 32 |
GO:003530318 | Prostate | Tumor | regulation of dephosphorylation | 39/3246 | 128/18723 | 1.82e-04 | 1.60e-03 | 39 |
GO:004277012 | Prostate | Tumor | signal transduction in response to DNA damage | 49/3246 | 172/18723 | 1.87e-04 | 1.65e-03 | 49 |
GO:005109014 | Prostate | Tumor | regulation of DNA-binding transcription factor activity | 105/3246 | 440/18723 | 2.69e-04 | 2.23e-03 | 105 |
GO:001092113 | Prostate | Tumor | regulation of phosphatase activity | 28/3246 | 84/18723 | 2.80e-04 | 2.28e-03 | 28 |
GO:004578611 | Prostate | Tumor | negative regulation of cell cycle | 93/3246 | 385/18723 | 3.79e-04 | 2.95e-03 | 93 |
GO:001631113 | Prostate | Tumor | dephosphorylation | 98/3246 | 417/18723 | 7.31e-04 | 5.08e-03 | 98 |
GO:00456641 | Prostate | Tumor | regulation of neuron differentiation | 52/3246 | 196/18723 | 7.90e-04 | 5.38e-03 | 52 |
GO:00719011 | Prostate | Tumor | negative regulation of protein serine/threonine kinase activity | 35/3246 | 120/18723 | 9.20e-04 | 6.08e-03 | 35 |
GO:004593011 | Prostate | Tumor | negative regulation of mitotic cell cycle | 60/3246 | 235/18723 | 9.42e-04 | 6.18e-03 | 60 |
GO:190199011 | Prostate | Tumor | regulation of mitotic cell cycle phase transition | 73/3246 | 299/18723 | 1.12e-03 | 7.14e-03 | 73 |
GO:190199111 | Prostate | Tumor | negative regulation of mitotic cell cycle phase transition | 45/3246 | 179/18723 | 5.17e-03 | 2.49e-02 | 45 |
GO:004217629 | Skin | cSCC | regulation of protein catabolic process | 198/4864 | 391/18723 | 6.03e-26 | 1.89e-23 | 198 |
GO:190336229 | Skin | cSCC | regulation of cellular protein catabolic process | 139/4864 | 255/18723 | 2.06e-22 | 4.17e-20 | 139 |
GO:0022411112 | Skin | cSCC | cellular component disassembly | 201/4864 | 443/18723 | 4.09e-19 | 5.69e-17 | 201 |
GO:0034504110 | Skin | cSCC | protein localization to nucleus | 143/4864 | 290/18723 | 8.98e-18 | 1.02e-15 | 143 |
GO:190332029 | Skin | cSCC | regulation of protein modification by small protein conjugation or removal | 125/4864 | 242/18723 | 9.50e-18 | 1.05e-15 | 125 |
GO:0034976112 | Skin | cSCC | response to endoplasmic reticulum stress | 128/4864 | 256/18723 | 1.16e-16 | 1.17e-14 | 128 |
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 |
CDK5RAP3 | SNV | Missense_Mutation | novel | c.814N>T | p.Pro272Ser | p.P272S | Q96JB5 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
CDK5RAP3 | SNV | Missense_Mutation | novel | c.1164C>A | p.Phe388Leu | p.F388L | Q96JB5 | protein_coding | deleterious(0.03) | probably_damaging(0.997) | TCGA-A2-A3XT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | PR |
CDK5RAP3 | SNV | Missense_Mutation | novel | c.371N>G | p.Glu124Gly | p.E124G | Q96JB5 | protein_coding | deleterious(0) | possibly_damaging(0.894) | TCGA-C8-A273-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CDK5RAP3 | SNV | Missense_Mutation | novel | c.371N>G | p.Glu124Gly | p.E124G | Q96JB5 | protein_coding | deleterious(0) | possibly_damaging(0.894) | TCGA-E9-A1NF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
CDK5RAP3 | insertion | Frame_Shift_Ins | novel | c.354_355insGGCCC | p.Met119GlyfsTer3 | p.M119Gfs*3 | Q96JB5 | protein_coding | | | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
CDK5RAP3 | insertion | Nonsense_Mutation | novel | c.355_356insGACTTTGAGAGGTCAGTCCCAT | p.Met119ArgfsTer3 | p.M119Rfs*3 | Q96JB5 | protein_coding | | | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
CDK5RAP3 | deletion | Frame_Shift_Del | novel | c.528delN | p.Ala177GlnfsTer32 | p.A177Qfs*32 | Q96JB5 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CDK5RAP3 | SNV | Missense_Mutation | | c.832C>T | p.Pro278Ser | p.P278S | Q96JB5 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-C5-A7CO-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
CDK5RAP3 | SNV | Missense_Mutation | | c.530N>A | p.Ala177Glu | p.A177E | Q96JB5 | protein_coding | tolerated(0.94) | benign(0.148) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
CDK5RAP3 | SNV | Missense_Mutation | | c.450G>T | p.Glu150Asp | p.E150D | Q96JB5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |