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:004860814 | Endometrium | EEC | reproductive structure development | 90/2168 | 424/18723 | 6.77e-09 | 4.41e-07 | 90 |
GO:000165512 | Endometrium | EEC | urogenital system development | 69/2168 | 338/18723 | 1.70e-06 | 5.18e-05 | 69 |
GO:004873217 | Endometrium | EEC | gland development | 83/2168 | 436/18723 | 3.08e-06 | 8.48e-05 | 83 |
GO:001050613 | Endometrium | EEC | regulation of autophagy | 55/2168 | 317/18723 | 1.40e-03 | 1.14e-02 | 55 |
GO:001921613 | Endometrium | EEC | regulation of lipid metabolic process | 54/2168 | 331/18723 | 5.82e-03 | 3.49e-02 | 54 |
GO:000703413 | Endometrium | EEC | vacuolar transport | 29/2168 | 157/18723 | 7.29e-03 | 4.15e-02 | 29 |
GO:00352651 | Endometrium | EEC | organ growth | 32/2168 | 178/18723 | 7.54e-03 | 4.22e-02 | 32 |
GO:001050616 | Esophagus | HGIN | regulation of autophagy | 84/2587 | 317/18723 | 1.39e-09 | 1.08e-07 | 84 |
GO:004873225 | Esophagus | HGIN | gland development | 88/2587 | 436/18723 | 1.34e-04 | 2.71e-03 | 88 |
GO:000703416 | Esophagus | HGIN | vacuolar transport | 35/2587 | 157/18723 | 2.52e-03 | 2.51e-02 | 35 |
GO:006145819 | Esophagus | HGIN | reproductive system development | 78/2587 | 427/18723 | 5.53e-03 | 4.52e-02 | 78 |
GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
GO:000703417 | Esophagus | ESCC | vacuolar transport | 119/8552 | 157/18723 | 1.16e-14 | 6.30e-13 | 119 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:00070419 | Esophagus | ESCC | lysosomal transport | 83/8552 | 114/18723 | 3.52e-09 | 7.41e-08 | 83 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0019693111 | Esophagus | ESCC | ribose phosphate metabolic process | 234/8552 | 396/18723 | 4.24e-08 | 7.76e-07 | 234 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:00066433 | Esophagus | ESCC | membrane lipid metabolic process | 130/8552 | 203/18723 | 9.29e-08 | 1.54e-06 | 130 |
GO:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
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 |
PSAP | insertion | Nonsense_Mutation | novel | c.449_450insGTAGGGCGTTCAGACAACATCCTTCTCTTTTTTC | p.His150GlnfsTer2 | p.H150Qfs*2 | P07602 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
PSAP | insertion | Nonsense_Mutation | novel | c.169_170insGGTGAGC | p.Thr57ArgfsTer2 | p.T57Rfs*2 | P07602 | protein_coding | | | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
PSAP | insertion | Frame_Shift_Ins | novel | c.1474_1475insTGGCCACGTGTTCCCTGTTTTTAAGTGAGATCCTGTCCTGGGT | p.Thr492MetfsTer16 | p.T492Mfs*16 | P07602 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
PSAP | insertion | Nonsense_Mutation | novel | c.604_605insGCTGAGGGTTTCTCTCTGACTTTCC | p.Ile202SerfsTer2 | p.I202Sfs*2 | P07602 | protein_coding | | | TCGA-BH-A0BR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PSAP | insertion | Frame_Shift_Ins | novel | c.1480_1481insTTTCTGTGTCCTTTATTGT | p.Lys494IlefsTer62 | p.K494Ifs*62 | P07602 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PSAP | insertion | Frame_Shift_Ins | novel | c.921_922insGGACACCCCCAGAGCTGGACCTGTGT | p.Pro308GlyfsTer24 | p.P308Gfs*24 | P07602 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PSAP | SNV | Missense_Mutation | | c.916N>A | p.Glu306Lys | p.E306K | P07602 | protein_coding | tolerated(0.88) | benign(0.003) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PSAP | SNV | Missense_Mutation | rs753606836 | c.415N>A | p.Glu139Lys | p.E139K | P07602 | protein_coding | tolerated(0.5) | benign(0.046) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PSAP | SNV | Missense_Mutation | rs756281426 | c.926C>T | p.Ala309Val | p.A309V | P07602 | protein_coding | tolerated(0.42) | benign(0.009) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PSAP | SNV | Missense_Mutation | rs545627914 | c.1559N>A | p.Arg520His | p.R520H | P07602 | protein_coding | tolerated(0.06) | possibly_damaging(0.88) | TCGA-D5-6531-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |