Tissue | Expression Dynamics | Abbreviation |
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:007259410 | Endometrium | AEH | establishment of protein localization to organelle | 89/2100 | 422/18723 | 2.41e-09 | 1.90e-07 | 89 |
GO:00345049 | Endometrium | AEH | protein localization to nucleus | 57/2100 | 290/18723 | 1.65e-05 | 3.42e-04 | 57 |
GO:000691310 | Endometrium | AEH | nucleocytoplasmic transport | 54/2100 | 301/18723 | 3.24e-04 | 3.62e-03 | 54 |
GO:005116910 | Endometrium | AEH | nuclear transport | 54/2100 | 301/18723 | 3.24e-04 | 3.62e-03 | 54 |
GO:00170389 | Endometrium | AEH | protein import | 37/2100 | 206/18723 | 2.56e-03 | 1.89e-02 | 37 |
GO:007259415 | Endometrium | EEC | establishment of protein localization to organelle | 94/2168 | 422/18723 | 2.22e-10 | 2.51e-08 | 94 |
GO:003450413 | Endometrium | EEC | protein localization to nucleus | 60/2168 | 290/18723 | 5.09e-06 | 1.26e-04 | 60 |
GO:000691314 | Endometrium | EEC | nucleocytoplasmic transport | 59/2168 | 301/18723 | 3.31e-05 | 5.65e-04 | 59 |
GO:005116914 | Endometrium | EEC | nuclear transport | 59/2168 | 301/18723 | 3.31e-05 | 5.65e-04 | 59 |
GO:001703813 | Endometrium | EEC | protein import | 40/2168 | 206/18723 | 6.94e-04 | 6.66e-03 | 40 |
GO:007259420 | Esophagus | HGIN | establishment of protein localization to organelle | 120/2587 | 422/18723 | 1.73e-15 | 4.00e-13 | 120 |
GO:003450417 | Esophagus | HGIN | protein localization to nucleus | 84/2587 | 290/18723 | 1.06e-11 | 1.24e-09 | 84 |
GO:000691319 | Esophagus | HGIN | nucleocytoplasmic transport | 83/2587 | 301/18723 | 2.14e-10 | 1.97e-08 | 83 |
GO:005116919 | Esophagus | HGIN | nuclear transport | 83/2587 | 301/18723 | 2.14e-10 | 1.97e-08 | 83 |
GO:001703817 | Esophagus | HGIN | protein import | 51/2587 | 206/18723 | 1.79e-05 | 4.86e-04 | 51 |
GO:005117010 | Esophagus | HGIN | import into nucleus | 41/2587 | 159/18723 | 4.24e-05 | 1.04e-03 | 41 |
GO:000660610 | Esophagus | HGIN | protein import into nucleus | 39/2587 | 155/18723 | 1.14e-04 | 2.39e-03 | 39 |
GO:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
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 |
RPAIN | SNV | Missense_Mutation | | c.457N>C | p.Val153Leu | p.V153L | | protein_coding | tolerated(0.87) | benign(0.001) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
RPAIN | SNV | Missense_Mutation | rs572268596 | c.637N>A | p.Val213Ile | p.V213I | | protein_coding | tolerated_low_confidence(0.39) | benign(0.003) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RPAIN | SNV | Missense_Mutation | | c.5C>T | p.Ala2Val | p.A2V | | protein_coding | deleterious(0) | possibly_damaging(0.454) | TCGA-AA-A01V-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RPAIN | SNV | Missense_Mutation | rs760113626 | c.131N>G | p.Tyr44Cys | p.Y44C | | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
RPAIN | SNV | Missense_Mutation | | c.101N>T | p.Arg34Ile | p.R34I | | protein_coding | deleterious(0) | possibly_damaging(0.885) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPAIN | SNV | Missense_Mutation | novel | c.562N>A | p.Pro188Thr | p.P188T | | protein_coding | tolerated(0.43) | benign(0.001) | TCGA-AX-A1C4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPAIN | SNV | Missense_Mutation | novel | c.481N>T | p.Pro161Ser | p.P161S | | protein_coding | tolerated(0.58) | benign(0.019) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
RPAIN | SNV | Missense_Mutation | novel | c.464A>G | p.Gln155Arg | p.Q155R | | protein_coding | tolerated(0.15) | possibly_damaging(0.463) | TCGA-BG-A0MK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
RPAIN | SNV | Missense_Mutation | | c.239A>G | p.Glu80Gly | p.E80G | | protein_coding | deleterious(0.04) | possibly_damaging(0.461) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPAIN | SNV | Missense_Mutation | novel | c.352N>C | p.Phe118Leu | p.F118L | | protein_coding | deleterious(0) | benign(0.203) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |