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 |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:2000116 | Colorectum | AD | regulation of cysteine-type endopeptidase activity | 79/3918 | 235/18723 | 3.74e-06 | 1.03e-04 | 79 |
GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
GO:0007265 | Colorectum | AD | Ras protein signal transduction | 104/3918 | 337/18723 | 1.01e-05 | 2.35e-04 | 104 |
GO:1901214 | Colorectum | AD | regulation of neuron death | 99/3918 | 319/18723 | 1.26e-05 | 2.76e-04 | 99 |
GO:0045861 | Colorectum | AD | negative regulation of proteolysis | 106/3918 | 351/18723 | 2.33e-05 | 4.57e-04 | 106 |
GO:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
GO:0043154 | Colorectum | AD | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 30/3918 | 78/18723 | 2.95e-04 | 3.59e-03 | 30 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:2000117 | Colorectum | AD | negative regulation of cysteine-type endopeptidase activity | 31/3918 | 86/18723 | 8.67e-04 | 8.45e-03 | 31 |
GO:0061458 | Colorectum | AD | reproductive system development | 116/3918 | 427/18723 | 1.11e-03 | 1.01e-02 | 116 |
GO:0048608 | Colorectum | AD | reproductive structure development | 114/3918 | 424/18723 | 1.78e-03 | 1.47e-02 | 114 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:0008202 | Colorectum | AD | steroid metabolic process | 85/3918 | 319/18723 | 8.07e-03 | 4.75e-02 | 85 |
GO:00069791 | Colorectum | SER | response to oxidative stress | 114/2897 | 446/18723 | 1.75e-08 | 1.28e-06 | 114 |
GO:00525471 | Colorectum | SER | regulation of peptidase activity | 114/2897 | 461/18723 | 1.18e-07 | 7.17e-06 | 114 |
GO:00458611 | Colorectum | SER | negative regulation of proteolysis | 88/2897 | 351/18723 | 1.74e-06 | 7.50e-05 | 88 |
GO:00525481 | Colorectum | SER | regulation of endopeptidase activity | 103/2897 | 432/18723 | 2.86e-06 | 1.16e-04 | 103 |
GO:00432811 | Colorectum | SER | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 57/2897 | 209/18723 | 8.08e-06 | 2.74e-04 | 57 |
GO:20001161 | Colorectum | SER | regulation of cysteine-type endopeptidase activity | 62/2897 | 235/18723 | 1.05e-05 | 3.39e-04 | 62 |
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 |
DHCR24 | SNV | Missense_Mutation | rs760795756 | c.912C>G | p.Phe304Leu | p.F304L | Q15392 | protein_coding | deleterious(0) | possibly_damaging(0.538) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
DHCR24 | SNV | Missense_Mutation | rs150166147 | c.736C>T | p.Arg246Trp | p.R246W | Q15392 | protein_coding | tolerated(0.17) | possibly_damaging(0.613) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DHCR24 | SNV | Missense_Mutation | | c.989N>A | p.Arg330His | p.R330H | Q15392 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-E2-A1B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Adriamycin | SD |
DHCR24 | SNV | Missense_Mutation | rs577722198 | c.947N>A | p.Arg316Gln | p.R316Q | Q15392 | protein_coding | tolerated(0.61) | benign(0) | TCGA-E9-A22H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
DHCR24 | SNV | Missense_Mutation | | c.260N>C | p.Lys87Thr | p.K87T | Q15392 | protein_coding | tolerated(0.06) | possibly_damaging(0.606) | TCGA-EW-A1OZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | SD |
DHCR24 | insertion | Nonsense_Mutation | novel | c.235_236insATTTGTATATGTTAACTCATGCATCACTTTGAG | p.Arg79delinsHisLeuTyrMetLeuThrHisAlaSerLeuTerGly | p.R79delinsHLYMLTHASL*G | Q15392 | protein_coding | | | TCGA-A8-A06T-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
DHCR24 | SNV | Missense_Mutation | rs150166147 | c.736C>T | p.Arg246Trp | p.R246W | Q15392 | protein_coding | tolerated(0.17) | possibly_damaging(0.613) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DHCR24 | SNV | Missense_Mutation | rs387906938 | c.307N>T | p.Arg103Cys | p.R103C | Q15392 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
DHCR24 | SNV | Missense_Mutation | | c.927N>T | p.Glu309Asp | p.E309D | Q15392 | protein_coding | deleterious(0.01) | possibly_damaging(0.787) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
DHCR24 | SNV | Missense_Mutation | novel | c.995N>T | p.Thr332Met | p.T332M | Q15392 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |