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 |
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:003406314 | Oral cavity | LP | stress granule assembly | 14/4623 | 26/18723 | 1.33e-03 | 1.07e-02 | 14 |
GO:006145818 | Oral cavity | LP | reproductive system development | 128/4623 | 427/18723 | 6.91e-03 | 3.96e-02 | 128 |
GO:004860817 | Oral cavity | LP | reproductive structure development | 127/4623 | 424/18723 | 7.31e-03 | 4.08e-02 | 127 |
GO:001603218 | Prostate | BPH | viral process | 147/3107 | 415/18723 | 4.46e-21 | 5.52e-18 | 147 |
GO:000641718 | Prostate | BPH | regulation of translation | 157/3107 | 468/18723 | 9.09e-20 | 5.63e-17 | 157 |
GO:000641316 | Prostate | BPH | translational initiation | 59/3107 | 118/18723 | 4.78e-17 | 1.14e-14 | 59 |
GO:000640216 | Prostate | BPH | mRNA catabolic process | 84/3107 | 232/18723 | 3.25e-13 | 3.10e-11 | 84 |
GO:006145810 | Prostate | BPH | reproductive system development | 126/3107 | 427/18723 | 1.35e-11 | 9.95e-10 | 126 |
GO:00064468 | Prostate | BPH | regulation of translational initiation | 39/3107 | 79/18723 | 1.57e-11 | 1.13e-09 | 39 |
GO:000640116 | Prostate | BPH | RNA catabolic process | 91/3107 | 278/18723 | 2.37e-11 | 1.60e-09 | 91 |
GO:004860810 | Prostate | BPH | reproductive structure development | 124/3107 | 424/18723 | 3.76e-11 | 2.43e-09 | 124 |
GO:00009569 | Prostate | BPH | nuclear-transcribed mRNA catabolic process | 44/3107 | 112/18723 | 7.85e-09 | 2.72e-07 | 44 |
GO:00190819 | Prostate | BPH | viral translation | 13/3107 | 16/18723 | 2.41e-08 | 7.23e-07 | 13 |
GO:00755228 | Prostate | BPH | IRES-dependent viral translational initiation | 10/3107 | 11/18723 | 1.46e-07 | 3.42e-06 | 10 |
GO:003465515 | Prostate | BPH | nucleobase-containing compound catabolic process | 107/3107 | 407/18723 | 3.79e-07 | 7.89e-06 | 107 |
GO:00340636 | Prostate | BPH | stress granule assembly | 15/3107 | 26/18723 | 2.37e-06 | 3.83e-05 | 15 |
GO:00190809 | Prostate | BPH | viral gene expression | 34/3107 | 94/18723 | 3.51e-06 | 5.48e-05 | 34 |
GO:004670010 | Prostate | BPH | heterocycle catabolic process | 111/3107 | 445/18723 | 3.58e-06 | 5.54e-05 | 111 |
GO:004427014 | Prostate | BPH | cellular nitrogen compound catabolic process | 112/3107 | 451/18723 | 4.04e-06 | 6.12e-05 | 112 |
GO:001943910 | Prostate | BPH | aromatic compound catabolic process | 113/3107 | 467/18723 | 1.30e-05 | 1.72e-04 | 113 |
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 |
CSDE1 | SNV | Missense_Mutation | novel | c.1489N>C | p.Glu497Gln | p.E497Q | O75534 | protein_coding | tolerated(0.06) | benign(0.136) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
CSDE1 | SNV | Missense_Mutation | | c.772N>T | p.His258Tyr | p.H258Y | O75534 | protein_coding | deleterious(0) | probably_damaging(0.922) | TCGA-C8-A12T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CSDE1 | SNV | Missense_Mutation | | c.114G>C | p.Lys38Asn | p.K38N | O75534 | protein_coding | tolerated_low_confidence(0.13) | probably_damaging(0.991) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSDE1 | SNV | Missense_Mutation | | c.151N>G | p.Pro51Ala | p.P51A | O75534 | protein_coding | tolerated(0.08) | probably_damaging(0.994) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSDE1 | SNV | Missense_Mutation | novel | c.2281G>A | p.Asp761Asn | p.D761N | O75534 | protein_coding | deleterious(0.03) | possibly_damaging(0.794) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
CSDE1 | insertion | In_Frame_Ins | novel | c.1798_1799insGATATAGTCCAAAGCAAGGGTTTTATTTAGGCATCTCTAAGC | p.Asp600delinsGlyTyrSerProLysGlnGlyPheTyrLeuGlyIleSerLysHis | p.D600delinsGYSPKQGFYLGISKH | O75534 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
CSDE1 | SNV | Missense_Mutation | novel | c.272N>A | p.Arg91His | p.R91H | O75534 | protein_coding | deleterious(0) | benign(0.072) | TCGA-PN-A8MA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
CSDE1 | SNV | Missense_Mutation | novel | c.95N>T | p.Ser32Phe | p.S32F | O75534 | protein_coding | tolerated_low_confidence(0.18) | possibly_damaging(0.663) | TCGA-VS-A8EC-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
CSDE1 | SNV | Missense_Mutation | novel | c.2356G>A | p.Glu786Lys | p.E786K | O75534 | protein_coding | tolerated(0.09) | benign(0.007) | TCGA-VS-A8EJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
CSDE1 | SNV | Missense_Mutation | | c.681N>T | p.Lys227Asn | p.K227N | O75534 | protein_coding | deleterious(0.02) | probably_damaging(0.978) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |