Tissue | Expression Dynamics | Abbreviation |
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 |
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:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:0033157110 | Esophagus | ESCC | regulation of intracellular protein transport | 169/8552 | 229/18723 | 3.31e-18 | 3.23e-16 | 169 |
GO:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
GO:0016049110 | Esophagus | ESCC | cell growth | 289/8552 | 482/18723 | 1.29e-10 | 3.77e-09 | 289 |
GO:000155819 | Esophagus | ESCC | regulation of cell growth | 248/8552 | 414/18723 | 2.97e-09 | 6.45e-08 | 248 |
GO:190547519 | Esophagus | ESCC | regulation of protein localization to membrane | 117/8552 | 175/18723 | 1.14e-08 | 2.26e-07 | 117 |
GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
GO:000726510 | Esophagus | ESCC | Ras protein signal transduction | 201/8552 | 337/18723 | 1.44e-07 | 2.30e-06 | 201 |
GO:190353315 | Esophagus | ESCC | regulation of protein targeting | 57/8552 | 81/18723 | 5.83e-06 | 6.03e-05 | 57 |
GO:003134616 | Esophagus | ESCC | positive regulation of cell projection organization | 201/8552 | 353/18723 | 1.19e-05 | 1.11e-04 | 201 |
GO:001072010 | Esophagus | ESCC | positive regulation of cell development | 172/8552 | 298/18723 | 1.74e-05 | 1.55e-04 | 172 |
GO:19038289 | Esophagus | ESCC | negative regulation of cellular protein localization | 76/8552 | 117/18723 | 1.97e-05 | 1.72e-04 | 76 |
GO:00066124 | Esophagus | ESCC | protein targeting to membrane | 83/8552 | 131/18723 | 3.31e-05 | 2.73e-04 | 83 |
GO:001003827 | Esophagus | ESCC | response to metal ion | 208/8552 | 373/18723 | 5.02e-05 | 3.90e-04 | 208 |
GO:005076710 | Esophagus | ESCC | regulation of neurogenesis | 203/8552 | 364/18723 | 6.10e-05 | 4.68e-04 | 203 |
GO:00507697 | Esophagus | ESCC | positive regulation of neurogenesis | 131/8552 | 225/18723 | 9.71e-05 | 6.90e-04 | 131 |
GO:003030710 | Esophagus | ESCC | positive regulation of cell growth | 100/8552 | 166/18723 | 1.07e-04 | 7.55e-04 | 100 |
GO:00083619 | Esophagus | ESCC | regulation of cell size | 107/8552 | 181/18723 | 1.81e-04 | 1.16e-03 | 107 |
GO:006156415 | Esophagus | ESCC | axon development | 251/8552 | 467/18723 | 2.41e-04 | 1.49e-03 | 251 |
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 |
GDI1 | SNV | Missense_Mutation | | c.991G>A | p.Asp331Asn | p.D331N | P31150 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A8-A08O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | PD |
GDI1 | SNV | Missense_Mutation | | c.478N>C | p.Gly160Arg | p.G160R | P31150 | protein_coding | deleterious(0.01) | possibly_damaging(0.866) | TCGA-AR-A0TW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD |
GDI1 | SNV | Missense_Mutation | rs782575041 | c.517N>T | p.Arg173Trp | p.R173W | P31150 | protein_coding | deleterious(0) | possibly_damaging(0.673) | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
GDI1 | SNV | Missense_Mutation | | c.623N>A | p.Arg208His | p.R208H | P31150 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-C8-A12Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
GDI1 | SNV | Missense_Mutation | novel | c.251N>T | p.Asn84Ile | p.N84I | P31150 | protein_coding | deleterious(0) | probably_damaging(0.919) | TCGA-C8-A3M8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
GDI1 | insertion | Frame_Shift_Ins | novel | c.1123_1124insT | p.Pro375LeufsTer3 | p.P375Lfs*3 | P31150 | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
GDI1 | insertion | Frame_Shift_Ins | novel | c.1125_1126insCTGCCTTACCTCTCTGGAAAAAA | p.Ile376LeufsTer67 | p.I376Lfs*67 | P31150 | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
GDI1 | insertion | In_Frame_Ins | novel | c.151_152insTAAGCCTTTCTTTTCCTCCCTTTCGAGTGTCCTTTGCAGTCC | p.Glu51delinsValSerLeuSerPheProProPheArgValSerPheAlaValGln | p.E51delinsVSLSFPPFRVSFAVQ | P31150 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
GDI1 | deletion | Frame_Shift_Del | novel | c.796delG | p.Val266TrpfsTer3 | p.V266Wfs*3 | P31150 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
GDI1 | SNV | Missense_Mutation | | c.924N>G | p.Ile308Met | p.I308M | P31150 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-DS-A0VM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |