Tissue | Expression Dynamics | Abbreviation |
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:199077821 | Liver | HCC | protein localization to cell periphery | 200/7958 | 333/18723 | 6.07e-11 | 2.23e-09 | 200 |
GO:190547511 | Liver | HCC | regulation of protein localization to membrane | 113/7958 | 175/18723 | 2.90e-09 | 7.78e-08 | 113 |
GO:190437521 | Liver | HCC | regulation of protein localization to cell periphery | 83/7958 | 125/18723 | 5.60e-08 | 1.19e-06 | 83 |
GO:007097212 | Liver | HCC | protein localization to endoplasmic reticulum | 54/7958 | 74/18723 | 1.01e-07 | 1.98e-06 | 54 |
GO:005123521 | Liver | HCC | maintenance of location | 185/7958 | 327/18723 | 1.70e-07 | 3.12e-06 | 185 |
GO:190307621 | Liver | HCC | regulation of protein localization to plasma membrane | 69/7958 | 104/18723 | 7.58e-07 | 1.17e-05 | 69 |
GO:190547711 | Liver | HCC | positive regulation of protein localization to membrane | 68/7958 | 106/18723 | 5.50e-06 | 6.82e-05 | 68 |
GO:004518512 | Liver | HCC | maintenance of protein location | 61/7958 | 94/18723 | 9.61e-06 | 1.12e-04 | 61 |
GO:005165112 | Liver | HCC | maintenance of location in cell | 119/7958 | 214/18723 | 7.11e-05 | 6.39e-04 | 119 |
GO:000689011 | Liver | HCC | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 36/7958 | 52/18723 | 8.79e-05 | 7.66e-04 | 36 |
GO:003250712 | Liver | HCC | maintenance of protein location in cell | 43/7958 | 65/18723 | 9.99e-05 | 8.60e-04 | 43 |
GO:190437712 | Liver | HCC | positive regulation of protein localization to cell periphery | 45/7958 | 69/18723 | 1.16e-04 | 9.80e-04 | 45 |
GO:190307812 | Liver | HCC | positive regulation of protein localization to plasma membrane | 40/7958 | 62/18723 | 3.84e-04 | 2.62e-03 | 40 |
GO:007259511 | Liver | HCC | maintenance of protein localization in organelle | 28/7958 | 42/18723 | 1.35e-03 | 7.26e-03 | 28 |
GO:004819315 | Oral cavity | OSCC | Golgi vesicle transport | 209/7305 | 296/18723 | 1.39e-28 | 6.30e-26 | 209 |
GO:190382920 | Oral cavity | OSCC | positive regulation of cellular protein localization | 179/7305 | 276/18723 | 2.20e-18 | 2.41e-16 | 179 |
GO:007265918 | Oral cavity | OSCC | protein localization to plasma membrane | 169/7305 | 284/18723 | 1.69e-12 | 7.21e-11 | 169 |
GO:199077816 | Oral cavity | OSCC | protein localization to cell periphery | 190/7305 | 333/18723 | 1.46e-11 | 5.13e-10 | 190 |
GO:005123518 | Oral cavity | OSCC | maintenance of location | 182/7305 | 327/18723 | 6.16e-10 | 1.58e-08 | 182 |
GO:003250710 | Oral cavity | OSCC | maintenance of protein location in cell | 49/7305 | 65/18723 | 2.61e-09 | 6.03e-08 | 49 |
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 |
RER1 | SNV | Missense_Mutation | novel | c.58A>G | p.Arg20Gly | p.R20G | O15258 | protein_coding | deleterious(0.04) | benign(0.122) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
RER1 | insertion | Nonsense_Mutation | novel | c.359_360insCTG | p.Lys120delinsAsnTer | p.K120delinsN* | O15258 | protein_coding | | | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RER1 | insertion | Frame_Shift_Ins | novel | c.361_362insGGTTGCTCTGCCTTACAGATGACGGTCC | p.Phe121TrpfsTer60 | p.F121Wfs*60 | O15258 | protein_coding | | | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RER1 | deletion | Frame_Shift_Del | novel | c.348_349delNN | p.Pro117ArgfsTer3 | p.P117Rfs*3 | O15258 | protein_coding | | | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
RER1 | SNV | Missense_Mutation | novel | c.464T>C | p.Ile155Thr | p.I155T | O15258 | protein_coding | deleterious(0) | probably_damaging(0.915) | TCGA-CK-5913-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | rs746542852 | c.47C>T | p.Ser16Leu | p.S16L | O15258 | protein_coding | tolerated(0.2) | probably_damaging(0.915) | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD |
RER1 | SNV | Missense_Mutation | novel | c.434N>C | p.Val145Ala | p.V145A | O15258 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | novel | c.520T>C | p.Tyr174His | p.Y174H | O15258 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | rs567205815 | c.583G>A | p.Ala195Thr | p.A195T | O15258 | protein_coding | tolerated(0.15) | benign(0.001) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | | c.418G>A | p.Ala140Thr | p.A140T | O15258 | protein_coding | deleterious(0.05) | benign(0.196) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |