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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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:00519733 | Colorectum | FAP | positive regulation of telomerase activity | 15/2622 | 34/18723 | 1.99e-05 | 4.90e-04 | 15 |
GO:20012524 | Colorectum | FAP | positive regulation of chromosome organization | 26/2622 | 82/18723 | 3.21e-05 | 7.20e-04 | 26 |
GO:00610142 | Colorectum | FAP | positive regulation of mRNA catabolic process | 27/2622 | 87/18723 | 3.50e-05 | 7.69e-04 | 27 |
GO:19013614 | Colorectum | FAP | organic cyclic compound catabolic process | 101/2622 | 495/18723 | 4.87e-05 | 9.93e-04 | 101 |
GO:20005734 | Colorectum | FAP | positive regulation of DNA biosynthetic process | 22/2622 | 66/18723 | 5.46e-05 | 1.09e-03 | 22 |
GO:00330442 | Colorectum | FAP | regulation of chromosome organization | 46/2622 | 187/18723 | 7.41e-05 | 1.36e-03 | 46 |
GO:00105861 | Colorectum | FAP | miRNA metabolic process | 12/2622 | 27/18723 | 1.24e-04 | 2.01e-03 | 12 |
GO:00434893 | Colorectum | FAP | RNA stabilization | 21/2622 | 65/18723 | 1.33e-04 | 2.13e-03 | 21 |
GO:00611572 | Colorectum | FAP | mRNA destabilization | 25/2622 | 84/18723 | 1.43e-04 | 2.24e-03 | 25 |
GO:00064034 | Colorectum | FAP | RNA localization | 47/2622 | 201/18723 | 2.27e-04 | 3.22e-03 | 47 |
GO:19043584 | Colorectum | FAP | positive regulation of telomere maintenance via telomere lengthening | 14/2622 | 37/18723 | 2.75e-04 | 3.67e-03 | 14 |
GO:00002892 | Colorectum | FAP | nuclear-transcribed mRNA poly(A) tail shortening | 12/2622 | 29/18723 | 2.83e-04 | 3.76e-03 | 12 |
GO:00507792 | Colorectum | FAP | RNA destabilization | 25/2622 | 88/18723 | 3.19e-04 | 4.12e-03 | 25 |
GO:00070043 | Colorectum | FAP | telomere maintenance via telomerase | 21/2622 | 69/18723 | 3.38e-04 | 4.30e-03 | 21 |
GO:00322124 | Colorectum | FAP | positive regulation of telomere maintenance via telomerase | 13/2622 | 34/18723 | 4.02e-04 | 4.86e-03 | 13 |
GO:00322044 | Colorectum | FAP | regulation of telomere maintenance | 23/2622 | 80/18723 | 4.51e-04 | 5.32e-03 | 23 |
GO:00322064 | Colorectum | FAP | positive regulation of telomere maintenance | 17/2622 | 52/18723 | 4.84e-04 | 5.59e-03 | 17 |
GO:00322101 | Colorectum | FAP | regulation of telomere maintenance via telomerase | 17/2622 | 53/18723 | 6.20e-04 | 6.82e-03 | 17 |
GO:00062783 | Colorectum | FAP | RNA-dependent DNA biosynthetic process | 21/2622 | 75/18723 | 1.14e-03 | 1.09e-02 | 21 |
GO:19043564 | Colorectum | FAP | regulation of telomere maintenance via telomere lengthening | 18/2622 | 61/18723 | 1.30e-03 | 1.20e-02 | 18 |
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 |
PARN | SNV | Missense_Mutation | rs766730789 | c.1416N>C | p.Gln472His | p.Q472H | O95453 | protein_coding | tolerated(0.31) | benign(0.001) | TCGA-C8-A12K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PARN | insertion | Frame_Shift_Ins | novel | c.244_245insGGTTT | p.Lys82ArgfsTer5 | p.K82Rfs*5 | O95453 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
PARN | insertion | Nonsense_Mutation | novel | c.243_244insGAGACAGACAGACAGATATGAGAACATG | p.Lys82GlufsTer7 | p.K82Efs*7 | O95453 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
PARN | SNV | Missense_Mutation | | c.1805N>T | p.Ser602Leu | p.S602L | O95453 | protein_coding | tolerated_low_confidence(0.25) | benign(0) | TCGA-BI-A0VR-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
PARN | SNV | Missense_Mutation | novel | c.82N>C | p.Asp28His | p.D28H | O95453 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
PARN | SNV | Missense_Mutation | novel | c.1504N>C | p.Glu502Gln | p.E502Q | O95453 | protein_coding | tolerated(0.07) | possibly_damaging(0.645) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
PARN | insertion | Frame_Shift_Ins | novel | c.195_196insAGGAT | p.Leu66ArgfsTer21 | p.L66Rfs*21 | O95453 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
PARN | SNV | Missense_Mutation | | c.1423N>C | p.Trp475Arg | p.W475R | O95453 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PARN | SNV | Missense_Mutation | novel | c.211N>A | p.Leu71Ile | p.L71I | O95453 | protein_coding | deleterious(0.01) | possibly_damaging(0.716) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PARN | SNV | Missense_Mutation | | c.1557G>T | p.Glu519Asp | p.E519D | O95453 | protein_coding | tolerated(0.24) | benign(0.006) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |