Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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:004573227 | Esophagus | HGIN | positive regulation of protein catabolic process | 69/2587 | 231/18723 | 1.66e-10 | 1.64e-08 | 69 |
GO:200005827 | Esophagus | HGIN | regulation of ubiquitin-dependent protein catabolic process | 53/2587 | 164/18723 | 9.89e-10 | 8.13e-08 | 53 |
GO:190336427 | Esophagus | HGIN | positive regulation of cellular protein catabolic process | 51/2587 | 155/18723 | 1.01e-09 | 8.15e-08 | 51 |
GO:190180020 | Esophagus | HGIN | positive regulation of proteasomal protein catabolic process | 41/2587 | 114/18723 | 2.25e-09 | 1.67e-07 | 41 |
GO:190305219 | Esophagus | HGIN | positive regulation of proteolysis involved in cellular protein catabolic process | 45/2587 | 133/18723 | 3.55e-09 | 2.53e-07 | 45 |
GO:007058520 | Esophagus | HGIN | protein localization to mitochondrion | 43/2587 | 125/18723 | 4.43e-09 | 3.03e-07 | 43 |
GO:003243427 | Esophagus | HGIN | regulation of proteasomal ubiquitin-dependent protein catabolic process | 45/2587 | 134/18723 | 4.64e-09 | 3.12e-07 | 45 |
GO:007265520 | Esophagus | HGIN | establishment of protein localization to mitochondrion | 41/2587 | 120/18723 | 1.26e-08 | 7.96e-07 | 41 |
GO:004328126 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 59/2587 | 209/18723 | 3.39e-08 | 1.97e-06 | 59 |
GO:200124410 | Esophagus | HGIN | positive regulation of intrinsic apoptotic signaling pathway | 25/2587 | 58/18723 | 4.91e-08 | 2.75e-06 | 25 |
GO:190589725 | Esophagus | HGIN | regulation of response to endoplasmic reticulum stress | 31/2587 | 82/18723 | 5.25e-08 | 2.91e-06 | 31 |
GO:200123519 | Esophagus | HGIN | positive regulation of apoptotic signaling pathway | 41/2587 | 126/18723 | 6.06e-08 | 3.22e-06 | 41 |
GO:200011626 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity | 63/2587 | 235/18723 | 9.71e-08 | 5.02e-06 | 63 |
GO:000660525 | Esophagus | HGIN | protein targeting | 78/2587 | 314/18723 | 1.08e-07 | 5.47e-06 | 78 |
GO:003243620 | Esophagus | HGIN | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 32/2587 | 90/18723 | 1.71e-07 | 8.47e-06 | 32 |
GO:00068889 | Esophagus | HGIN | endoplasmic reticulum to Golgi vesicle-mediated transport | 40/2587 | 130/18723 | 4.67e-07 | 2.07e-05 | 40 |
GO:005254726 | Esophagus | HGIN | regulation of peptidase activity | 102/2587 | 461/18723 | 6.29e-07 | 2.72e-05 | 102 |
GO:000662620 | Esophagus | HGIN | protein targeting to mitochondrion | 33/2587 | 100/18723 | 7.99e-07 | 3.35e-05 | 33 |
GO:001095225 | Esophagus | HGIN | positive regulation of peptidase activity | 53/2587 | 197/18723 | 8.70e-07 | 3.59e-05 | 53 |
GO:005254826 | Esophagus | HGIN | regulation of endopeptidase activity | 96/2587 | 432/18723 | 1.09e-06 | 4.30e-05 | 96 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0414118 | Breast | Precancer | Protein processing in endoplasmic reticulum | 33/684 | 174/8465 | 2.78e-06 | 3.83e-05 | 2.94e-05 | 33 |
hsa0414119 | Breast | Precancer | Protein processing in endoplasmic reticulum | 33/684 | 174/8465 | 2.78e-06 | 3.83e-05 | 2.94e-05 | 33 |
hsa0414124 | Breast | IDC | Protein processing in endoplasmic reticulum | 36/867 | 174/8465 | 2.73e-05 | 2.86e-04 | 2.14e-04 | 36 |
hsa0414134 | Breast | IDC | Protein processing in endoplasmic reticulum | 36/867 | 174/8465 | 2.73e-05 | 2.86e-04 | 2.14e-04 | 36 |
hsa0414143 | Breast | DCIS | Protein processing in endoplasmic reticulum | 36/846 | 174/8465 | 1.60e-05 | 1.91e-04 | 1.41e-04 | 36 |
hsa0414153 | Breast | DCIS | Protein processing in endoplasmic reticulum | 36/846 | 174/8465 | 1.60e-05 | 1.91e-04 | 1.41e-04 | 36 |
hsa04141 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa041411 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa041412 | Colorectum | SER | Protein processing in endoplasmic reticulum | 60/1580 | 174/8465 | 4.20e-07 | 7.33e-06 | 5.32e-06 | 60 |
hsa041413 | Colorectum | SER | Protein processing in endoplasmic reticulum | 60/1580 | 174/8465 | 4.20e-07 | 7.33e-06 | 5.32e-06 | 60 |
hsa041414 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa041415 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa041416 | Colorectum | MSI-H | Protein processing in endoplasmic reticulum | 46/797 | 174/8465 | 4.53e-11 | 9.78e-10 | 8.19e-10 | 46 |
hsa041417 | Colorectum | MSI-H | Protein processing in endoplasmic reticulum | 46/797 | 174/8465 | 4.53e-11 | 9.78e-10 | 8.19e-10 | 46 |
hsa0414126 | Endometrium | AEH | Protein processing in endoplasmic reticulum | 62/1197 | 174/8465 | 5.97e-13 | 1.39e-11 | 1.01e-11 | 62 |
hsa04141111 | Endometrium | AEH | Protein processing in endoplasmic reticulum | 62/1197 | 174/8465 | 5.97e-13 | 1.39e-11 | 1.01e-11 | 62 |
hsa0414127 | Endometrium | EEC | Protein processing in endoplasmic reticulum | 64/1237 | 174/8465 | 2.17e-13 | 5.09e-12 | 3.80e-12 | 64 |
hsa0414136 | Endometrium | EEC | Protein processing in endoplasmic reticulum | 64/1237 | 174/8465 | 2.17e-13 | 5.09e-12 | 3.80e-12 | 64 |
hsa0414139 | Esophagus | HGIN | Protein processing in endoplasmic reticulum | 67/1383 | 174/8465 | 1.06e-12 | 2.16e-11 | 1.72e-11 | 67 |
hsa04141114 | Esophagus | HGIN | Protein processing in endoplasmic reticulum | 67/1383 | 174/8465 | 1.06e-12 | 2.16e-11 | 1.72e-11 | 67 |
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 |
BCAP31 | SNV | Missense_Mutation | | c.851A>T | p.Glu284Val | p.E284V | P51572 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
BCAP31 | SNV | Missense_Mutation | novel | c.572N>T | p.Ser191Leu | p.S191L | P51572 | protein_coding | deleterious(0.02) | probably_damaging(0.991) | TCGA-AO-A03P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | PD |
BCAP31 | SNV | Missense_Mutation | | c.833N>T | p.Ala278Val | p.A278V | P51572 | protein_coding | deleterious(0.05) | probably_damaging(0.997) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BCAP31 | SNV | Missense_Mutation | rs782366321 | c.554N>A | p.Arg185His | p.R185H | P51572 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
BCAP31 | SNV | Missense_Mutation | novel | c.364N>T | p.Leu122Phe | p.L122F | P51572 | protein_coding | tolerated(0.22) | benign(0.248) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BCAP31 | SNV | Missense_Mutation | rs782016039 | c.871N>A | p.Asp291Asn | p.D291N | P51572 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BCAP31 | SNV | Missense_Mutation | novel | c.937N>A | p.Glu313Lys | p.E313K | P51572 | protein_coding | deleterious(0.04) | benign(0.023) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
BCAP31 | SNV | Missense_Mutation | | c.421G>A | p.Asp141Asn | p.D141N | P51572 | protein_coding | tolerated(0.16) | possibly_damaging(0.76) | TCGA-C5-A2LX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
BCAP31 | SNV | Missense_Mutation | novel | c.850G>A | p.Glu284Lys | p.E284K | P51572 | protein_coding | tolerated(0.1) | benign(0.233) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BCAP31 | SNV | Missense_Mutation | | c.130N>A | p.Val44Met | p.V44M | P51572 | protein_coding | tolerated_low_confidence(0.34) | benign(0) | TCGA-CM-6680-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |