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 |
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 |
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:000170113 | Breast | IDC | in utero embryonic development | 42/1434 | 367/18723 | 5.85e-03 | 4.24e-02 | 42 |
GO:000170122 | Breast | DCIS | in utero embryonic development | 41/1390 | 367/18723 | 5.74e-03 | 4.13e-02 | 41 |
GO:00017018 | Cervix | CC | in utero embryonic development | 71/2311 | 367/18723 | 7.21e-05 | 1.00e-03 | 71 |
GO:0001701 | Colorectum | AD | in utero embryonic development | 110/3918 | 367/18723 | 2.36e-05 | 4.62e-04 | 110 |
GO:00017011 | Colorectum | SER | in utero embryonic development | 77/2897 | 367/18723 | 2.77e-03 | 2.48e-02 | 77 |
GO:00017012 | Colorectum | MSS | in utero embryonic development | 99/3467 | 367/18723 | 3.71e-05 | 7.10e-04 | 99 |
GO:00017013 | Colorectum | FAP | in utero embryonic development | 81/2622 | 367/18723 | 1.58e-05 | 4.10e-04 | 81 |
GO:00017019 | Endometrium | AEH | in utero embryonic development | 73/2100 | 367/18723 | 7.18e-07 | 2.63e-05 | 73 |
GO:000170114 | Endometrium | EEC | in utero embryonic development | 75/2168 | 367/18723 | 5.86e-07 | 2.16e-05 | 75 |
GO:000170118 | Esophagus | HGIN | in utero embryonic development | 77/2587 | 367/18723 | 9.56e-05 | 2.05e-03 | 77 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
GO:000170111 | Liver | HCC | in utero embryonic development | 204/7958 | 367/18723 | 2.44e-07 | 4.30e-06 | 204 |
GO:00017016 | Lung | IAC | in utero embryonic development | 68/2061 | 367/18723 | 1.12e-05 | 3.45e-04 | 68 |
GO:000170112 | Lung | AIS | in utero embryonic development | 59/1849 | 367/18723 | 1.20e-04 | 2.75e-03 | 59 |
GO:000170131 | Lung | MIAC | in utero embryonic development | 33/967 | 367/18723 | 1.44e-03 | 2.54e-02 | 33 |
GO:000170116 | Oral cavity | OSCC | in utero embryonic development | 207/7305 | 367/18723 | 7.92e-12 | 2.95e-10 | 207 |
GO:000170117 | Oral cavity | LP | in utero embryonic development | 142/4623 | 367/18723 | 1.48e-09 | 6.75e-08 | 142 |
GO:000170123 | Oral cavity | EOLP | in utero embryonic development | 72/2218 | 367/18723 | 1.02e-05 | 1.83e-04 | 72 |
GO:000170132 | Oral cavity | NEOLP | in utero embryonic development | 76/2005 | 367/18723 | 1.11e-08 | 5.44e-07 | 76 |
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 |
BTF3 | SNV | Missense_Mutation | novel | c.215N>C | p.Arg72Thr | p.R72T | P20290 | protein_coding | deleterious(0) | possibly_damaging(0.642) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
BTF3 | SNV | Missense_Mutation | rs750408507 | c.179N>A | p.Ala60Glu | p.A60E | P20290 | protein_coding | tolerated(0.05) | benign(0.015) | TCGA-E9-A295-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
BTF3 | SNV | Missense_Mutation | novel | c.473N>C | p.Ser158Thr | p.S158T | P20290 | protein_coding | tolerated(0.1) | possibly_damaging(0.448) | TCGA-EW-A3U0-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
BTF3 | SNV | Missense_Mutation | | c.415N>C | p.Glu139Gln | p.E139Q | P20290 | protein_coding | tolerated(0.2) | possibly_damaging(0.669) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
BTF3 | deletion | Frame_Shift_Del | novel | c.355delN | p.Asn119ThrfsTer25 | p.N119Tfs*25 | P20290 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
BTF3 | SNV | Missense_Mutation | novel | c.41G>A | p.Gly14Glu | p.G14E | P20290 | protein_coding | deleterious_low_confidence(0.02) | benign(0.022) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BTF3 | SNV | Missense_Mutation | | c.286G>C | p.Gly96Arg | p.G96R | P20290 | protein_coding | deleterious(0.04) | benign(0.125) | TCGA-A6-2681-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
BTF3 | SNV | Missense_Mutation | | c.597N>C | p.Glu199Asp | p.E199D | P20290 | protein_coding | tolerated(0.06) | benign(0.059) | TCGA-AA-3979-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BTF3 | SNV | Missense_Mutation | novel | c.614N>G | p.Ala205Gly | p.A205G | P20290 | protein_coding | deleterious(0.04) | benign(0.037) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BTF3 | SNV | Missense_Mutation | | c.343N>T | p.Val115Leu | p.V115L | P20290 | protein_coding | deleterious(0) | possibly_damaging(0.553) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |