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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
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:007138511 | Liver | Cirrhotic | cellular response to glucocorticoid stimulus | 30/4634 | 56/18723 | 3.46e-06 | 5.97e-05 | 30 |
GO:007138411 | Liver | Cirrhotic | cellular response to corticosteroid stimulus | 31/4634 | 61/18723 | 1.01e-05 | 1.45e-04 | 31 |
GO:007121411 | Liver | Cirrhotic | cellular response to abiotic stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:010400411 | Liver | Cirrhotic | cellular response to environmental stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:003286811 | Liver | Cirrhotic | response to insulin | 95/4634 | 264/18723 | 2.77e-05 | 3.54e-04 | 95 |
GO:19016551 | Liver | Cirrhotic | cellular response to ketone | 42/4634 | 96/18723 | 3.55e-05 | 4.32e-04 | 42 |
GO:000193312 | Liver | Cirrhotic | negative regulation of protein phosphorylation | 117/4634 | 342/18723 | 4.84e-05 | 5.59e-04 | 117 |
GO:00708495 | Liver | Cirrhotic | response to epidermal growth factor | 25/4634 | 49/18723 | 6.57e-05 | 7.47e-04 | 25 |
GO:00715481 | Liver | Cirrhotic | response to dexamethasone | 21/4634 | 39/18723 | 9.13e-05 | 9.74e-04 | 21 |
GO:005134812 | Liver | Cirrhotic | negative regulation of transferase activity | 93/4634 | 268/18723 | 1.55e-04 | 1.47e-03 | 93 |
GO:00303242 | Liver | Cirrhotic | lung development | 65/4634 | 177/18723 | 2.49e-04 | 2.25e-03 | 65 |
GO:004205912 | Liver | Cirrhotic | negative regulation of epidermal growth factor receptor signaling pathway | 16/4634 | 28/18723 | 2.53e-04 | 2.27e-03 | 16 |
GO:00303232 | Liver | Cirrhotic | respiratory tube development | 66/4634 | 181/18723 | 2.82e-04 | 2.49e-03 | 66 |
GO:00713645 | Liver | Cirrhotic | cellular response to epidermal growth factor stimulus | 22/4634 | 45/18723 | 3.90e-04 | 3.23e-03 | 22 |
GO:00715491 | Liver | Cirrhotic | cellular response to dexamethasone stimulus | 16/4634 | 29/18723 | 4.36e-04 | 3.55e-03 | 16 |
GO:190118511 | Liver | Cirrhotic | negative regulation of ERBB signaling pathway | 17/4634 | 32/18723 | 5.24e-04 | 4.14e-03 | 17 |
GO:003812711 | Liver | Cirrhotic | ERBB signaling pathway | 46/4634 | 121/18723 | 8.08e-04 | 5.93e-03 | 46 |
GO:000697011 | Liver | Cirrhotic | response to osmotic stress | 34/4634 | 84/18723 | 1.06e-03 | 7.40e-03 | 34 |
GO:003367312 | Liver | Cirrhotic | negative regulation of kinase activity | 78/4634 | 237/18723 | 2.73e-03 | 1.59e-02 | 78 |
GO:00605411 | Liver | Cirrhotic | respiratory system development | 67/4634 | 203/18723 | 4.81e-03 | 2.52e-02 | 67 |
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 |
ERRFI1 | SNV | Missense_Mutation | rs750025751 | c.777N>C | p.Lys259Asn | p.K259N | Q9UJM3 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-D8-A1X6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
ERRFI1 | insertion | Frame_Shift_Ins | novel | c.86dupT | p.Met29IlefsTer11 | p.M29Ifs*11 | Q9UJM3 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
ERRFI1 | insertion | Frame_Shift_Ins | novel | c.84_85insCCTCCTCCACCTCAGACCCACCGAAGATTAAGAAGGTCTC | p.Met29ProfsTer24 | p.M29Pfs*24 | Q9UJM3 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
ERRFI1 | insertion | Frame_Shift_Ins | novel | c.147_148insTTCTA | p.Ile50PhefsTer2 | p.I50Ffs*2 | Q9UJM3 | protein_coding | | | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ERRFI1 | insertion | Nonsense_Mutation | novel | c.146_147insTTTTCCCCTGTGCCCCTCTTTGTGAACGGG | p.Pro49_Ile50insPheProLeuCysProSerLeuTerThrGly | p.P49_I50insFPLCPSL*TG | Q9UJM3 | protein_coding | | | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ERRFI1 | SNV | Missense_Mutation | novel | c.1291G>A | p.Gly431Ser | p.G431S | Q9UJM3 | protein_coding | tolerated_low_confidence(0.56) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ERRFI1 | SNV | Missense_Mutation | rs781338553 | c.1358G>A | p.Arg453His | p.R453H | Q9UJM3 | protein_coding | deleterious_low_confidence(0) | benign(0.054) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ERRFI1 | SNV | Missense_Mutation | rs746056102 | c.731N>A | p.Arg244Gln | p.R244Q | Q9UJM3 | protein_coding | deleterious(0.01) | benign(0.081) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERRFI1 | SNV | Missense_Mutation | novel | c.763N>C | p.Gly255Arg | p.G255R | Q9UJM3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A02W-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ERRFI1 | SNV | Missense_Mutation | rs779337445 | c.1227N>T | p.Lys409Asn | p.K409N | Q9UJM3 | protein_coding | deleterious(0) | possibly_damaging(0.796) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |