Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
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:007265910 | Cervix | CC | protein localization to plasma membrane | 73/2311 | 284/18723 | 4.95e-10 | 6.73e-08 | 73 |
GO:19907788 | Cervix | CC | protein localization to cell periphery | 78/2311 | 333/18723 | 1.22e-08 | 9.73e-07 | 78 |
GO:007265914 | Endometrium | AEH | protein localization to plasma membrane | 63/2100 | 284/18723 | 7.58e-08 | 3.92e-06 | 63 |
GO:19907789 | Endometrium | AEH | protein localization to cell periphery | 68/2100 | 333/18723 | 6.38e-07 | 2.38e-05 | 68 |
GO:007265915 | Endometrium | EEC | protein localization to plasma membrane | 64/2168 | 284/18723 | 1.05e-07 | 5.05e-06 | 64 |
GO:199077814 | Endometrium | EEC | protein localization to cell periphery | 69/2168 | 333/18723 | 9.71e-07 | 3.31e-05 | 69 |
GO:0072659110 | Esophagus | ESCC | protein localization to plasma membrane | 193/8552 | 284/18723 | 1.95e-14 | 1.03e-12 | 193 |
GO:199077819 | Esophagus | ESCC | protein localization to cell periphery | 217/8552 | 333/18723 | 4.08e-13 | 1.88e-11 | 217 |
GO:00340676 | Esophagus | ESCC | protein localization to Golgi apparatus | 23/8552 | 29/18723 | 2.25e-04 | 1.40e-03 | 23 |
GO:007265921 | Liver | HCC | protein localization to plasma membrane | 177/7958 | 284/18723 | 1.02e-11 | 4.18e-10 | 177 |
GO:199077821 | Liver | HCC | protein localization to cell periphery | 200/7958 | 333/18723 | 6.07e-11 | 2.23e-09 | 200 |
GO:003406721 | Liver | HCC | protein localization to Golgi apparatus | 23/7958 | 29/18723 | 5.86e-05 | 5.38e-04 | 23 |
GO:00726598 | Lung | IAC | protein localization to plasma membrane | 60/2061 | 284/18723 | 4.74e-07 | 3.10e-05 | 60 |
GO:19907787 | Lung | IAC | protein localization to cell periphery | 66/2061 | 333/18723 | 1.44e-06 | 7.22e-05 | 66 |
GO:007265912 | Lung | AIS | protein localization to plasma membrane | 58/1849 | 284/18723 | 6.25e-08 | 7.14e-06 | 58 |
GO:199077812 | Lung | AIS | protein localization to cell periphery | 64/1849 | 333/18723 | 1.42e-07 | 1.48e-05 | 64 |
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:00340675 | Oral cavity | OSCC | protein localization to Golgi apparatus | 21/7305 | 29/18723 | 2.73e-04 | 1.73e-03 | 21 |
GO:007265919 | Oral cavity | LP | protein localization to plasma membrane | 119/4623 | 284/18723 | 1.11e-10 | 6.44e-09 | 119 |
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 |
PACS1 | SNV | Missense_Mutation | | c.2369G>A | p.Arg790Gln | p.R790Q | Q6VY07 | protein_coding | tolerated(0.07) | benign(0.024) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PACS1 | SNV | Missense_Mutation | rs398123009 | c.607N>T | p.Arg203Trp | p.R203W | Q6VY07 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-AC-A3QP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
PACS1 | SNV | Missense_Mutation | | c.1591N>T | p.Ser531Cys | p.S531C | Q6VY07 | protein_coding | deleterious(0.04) | possibly_damaging(0.887) | TCGA-AN-A0AL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PACS1 | SNV | Missense_Mutation | | c.2538G>C | p.Lys846Asn | p.K846N | Q6VY07 | protein_coding | tolerated(0.07) | probably_damaging(0.998) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
PACS1 | SNV | Missense_Mutation | | c.1936N>A | p.Leu646Met | p.L646M | Q6VY07 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PACS1 | SNV | Missense_Mutation | novel | c.1619N>A | p.Ser540Asn | p.S540N | Q6VY07 | protein_coding | tolerated(0.38) | benign(0.056) | TCGA-E9-A5FL-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PACS1 | insertion | Frame_Shift_Ins | novel | c.2183_2184insTCTCTGTGCACAGCCCCTCCACTCTGCCAGTTTT | p.Met729LeufsTer18 | p.M729Lfs*18 | Q6VY07 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
PACS1 | deletion | Frame_Shift_Del | novel | c.2175delN | p.Ala726ProfsTer5 | p.A726Pfs*5 | Q6VY07 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PACS1 | SNV | Missense_Mutation | novel | c.1601N>T | p.Ser534Phe | p.S534F | Q6VY07 | protein_coding | deleterious(0.04) | probably_damaging(0.994) | TCGA-C5-A7XC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PACS1 | SNV | Missense_Mutation | | c.725C>G | p.Ser242Cys | p.S242C | Q6VY07 | protein_coding | deleterious(0) | possibly_damaging(0.707) | TCGA-EK-A2RC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |