Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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:000189010 | Prostate | BPH | placenta development | 50/3107 | 144/18723 | 8.97e-08 | 2.20e-06 | 50 |
GO:000940815 | Prostate | BPH | response to heat | 40/3107 | 110/18723 | 4.27e-07 | 8.77e-06 | 40 |
GO:000926610 | Prostate | BPH | response to temperature stimulus | 56/3107 | 178/18723 | 6.74e-07 | 1.30e-05 | 56 |
GO:000189210 | Prostate | BPH | embryonic placenta development | 32/3107 | 82/18723 | 9.93e-07 | 1.80e-05 | 32 |
GO:00607138 | Prostate | BPH | labyrinthine layer morphogenesis | 13/3107 | 22/18723 | 7.91e-06 | 1.12e-04 | 13 |
GO:200011716 | Prostate | BPH | negative regulation of cysteine-type endopeptidase activity | 31/3107 | 86/18723 | 1.01e-05 | 1.40e-04 | 31 |
GO:19000342 | Prostate | BPH | regulation of cellular response to heat | 11/3107 | 17/18723 | 1.20e-05 | 1.61e-04 | 11 |
GO:00606698 | Prostate | BPH | embryonic placenta morphogenesis | 14/3107 | 26/18723 | 1.53e-05 | 1.95e-04 | 14 |
GO:005134616 | Prostate | BPH | negative regulation of hydrolase activity | 94/3107 | 379/18723 | 2.46e-05 | 2.94e-04 | 94 |
GO:004315415 | Prostate | BPH | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 28/3107 | 78/18723 | 2.91e-05 | 3.34e-04 | 28 |
GO:00607063 | Prostate | BPH | cell differentiation involved in embryonic placenta development | 13/3107 | 25/18723 | 5.04e-05 | 5.21e-04 | 13 |
GO:001095115 | Prostate | BPH | negative regulation of endopeptidase activity | 66/3107 | 252/18723 | 6.87e-05 | 6.78e-04 | 66 |
GO:001046616 | Prostate | BPH | negative regulation of peptidase activity | 68/3107 | 262/18723 | 7.28e-05 | 7.13e-04 | 68 |
GO:00607117 | Prostate | BPH | labyrinthine layer development | 17/3107 | 44/18723 | 3.88e-04 | 2.84e-03 | 17 |
GO:007084110 | Prostate | BPH | inclusion body assembly | 11/3107 | 24/18723 | 7.76e-04 | 5.10e-03 | 11 |
GO:00900839 | Prostate | BPH | regulation of inclusion body assembly | 8/3107 | 17/18723 | 3.36e-03 | 1.73e-02 | 8 |
GO:00900849 | Prostate | BPH | negative regulation of inclusion body assembly | 6/3107 | 11/18723 | 4.49e-03 | 2.19e-02 | 6 |
GO:00430621 | Prostate | BPH | extracellular structure organization | 67/3107 | 302/18723 | 6.67e-03 | 3.00e-02 | 67 |
GO:00301981 | Prostate | BPH | extracellular matrix organization | 66/3107 | 301/18723 | 9.20e-03 | 3.92e-02 | 66 |
GO:00452291 | Prostate | BPH | external encapsulating structure organization | 66/3107 | 304/18723 | 1.15e-02 | 4.66e-02 | 66 |
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 |
DNAJB6 | SNV | Missense_Mutation | | c.626N>C | p.Val209Ala | p.V209A | O75190 | protein_coding | deleterious(0) | benign(0.079) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
DNAJB6 | insertion | Nonsense_Mutation | novel | c.216_217insAACATGGTCATTGTTCTTGCCATGGCACTGGCTACCTGAAACTGC | p.Gly72_Leu73insAsnMetValIleValLeuAlaMetAlaLeuAlaThrTerAsnCys | p.G72_L73insNMVIVLAMALAT*NC | O75190 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
DNAJB6 | deletion | Frame_Shift_Del | novel | c.418delN | p.Phe141SerfsTer27 | p.F141Sfs*27 | O75190 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
DNAJB6 | SNV | Missense_Mutation | | c.337G>C | p.Asp113His | p.D113H | O75190 | protein_coding | tolerated(0.37) | possibly_damaging(0.65) | TCGA-C5-A1MK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
DNAJB6 | SNV | Missense_Mutation | novel | c.954N>C | p.Lys318Asn | p.K318N | O75190 | protein_coding | deleterious(0.01) | possibly_damaging(0.666) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJB6 | SNV | Missense_Mutation | novel | c.479N>A | p.Gly160Glu | p.G160E | O75190 | protein_coding | tolerated(0.05) | probably_damaging(0.999) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
DNAJB6 | SNV | Missense_Mutation | | c.569N>T | p.Ser190Leu | p.S190L | O75190 | protein_coding | deleterious(0.02) | probably_damaging(0.992) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
DNAJB6 | SNV | Missense_Mutation | | c.70N>T | p.Arg24Trp | p.R24W | O75190 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-CK-4947-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Other, specify in notes | folinic | SD |
DNAJB6 | SNV | Missense_Mutation | | c.851N>T | p.Asp284Val | p.D284V | O75190 | protein_coding | deleterious(0.02) | benign(0.044) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
DNAJB6 | SNV | Missense_Mutation | novel | c.567A>C | p.Lys189Asn | p.K189N | O75190 | protein_coding | tolerated(0.09) | possibly_damaging(0.558) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |