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 |
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 |
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:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:0043484111 | Esophagus | ESCC | regulation of RNA splicing | 116/8552 | 148/18723 | 3.18e-16 | 2.38e-14 | 116 |
GO:000635414 | Esophagus | ESCC | DNA-templated transcription, elongation | 76/8552 | 91/18723 | 8.35e-14 | 4.11e-12 | 76 |
GO:003278412 | Esophagus | ESCC | regulation of DNA-templated transcription, elongation | 45/8552 | 53/18723 | 3.64e-09 | 7.61e-08 | 45 |
GO:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
GO:004348422 | Liver | HCC | regulation of RNA splicing | 113/7958 | 148/18723 | 4.32e-17 | 4.15e-15 | 113 |
GO:000635411 | Liver | HCC | DNA-templated transcription, elongation | 64/7958 | 91/18723 | 7.00e-08 | 1.44e-06 | 64 |
GO:0032784 | Liver | HCC | regulation of DNA-templated transcription, elongation | 39/7958 | 53/18723 | 4.34e-06 | 5.53e-05 | 39 |
GO:00434848 | Lung | IAC | regulation of RNA splicing | 49/2061 | 148/18723 | 4.76e-13 | 7.06e-10 | 49 |
GO:00083808 | Lung | IAC | RNA splicing | 75/2061 | 434/18723 | 4.89e-05 | 1.12e-03 | 75 |
GO:004348413 | Lung | AIS | regulation of RNA splicing | 45/1849 | 148/18723 | 2.75e-12 | 2.67e-09 | 45 |
GO:000838013 | Lung | AIS | RNA splicing | 68/1849 | 434/18723 | 8.50e-05 | 2.11e-03 | 68 |
GO:000838020 | Oral cavity | OSCC | RNA splicing | 308/7305 | 434/18723 | 2.43e-42 | 7.70e-39 | 308 |
GO:004348420 | Oral cavity | OSCC | regulation of RNA splicing | 108/7305 | 148/18723 | 4.25e-17 | 3.69e-15 | 108 |
GO:00063547 | Oral cavity | OSCC | DNA-templated transcription, elongation | 63/7305 | 91/18723 | 4.86e-09 | 1.07e-07 | 63 |
GO:00327843 | Oral cavity | OSCC | regulation of DNA-templated transcription, elongation | 36/7305 | 53/18723 | 1.89e-05 | 1.83e-04 | 36 |
GO:000838027 | Skin | AK | RNA splicing | 111/1910 | 434/18723 | 1.85e-20 | 5.49e-17 | 111 |
GO:004348428 | Skin | AK | regulation of RNA splicing | 54/1910 | 148/18723 | 9.66e-18 | 9.53e-15 | 54 |
GO:00063549 | Skin | AK | DNA-templated transcription, elongation | 25/1910 | 91/18723 | 2.82e-06 | 7.60e-05 | 25 |
GO:00327845 | Skin | AK | regulation of DNA-templated transcription, elongation | 16/1910 | 53/18723 | 4.87e-05 | 7.59e-04 | 16 |
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 |
ZNF326 | deletion | Frame_Shift_Del | | c.1325_1358delNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | p.Arg443IlefsTer4 | p.R443Ifs*4 | Q5BKZ1 | protein_coding | | | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
ZNF326 | insertion | Frame_Shift_Ins | novel | c.573_574insATCTTTTATGTTTTATCTGTTTATCCTTCTA | p.Ala192IlefsTer28 | p.A192Ifs*28 | Q5BKZ1 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
ZNF326 | insertion | In_Frame_Ins | novel | c.864_865insATC | p.Ala288_Arg289insIle | p.A288_R289insI | Q5BKZ1 | protein_coding | | | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
ZNF326 | insertion | Frame_Shift_Ins | novel | c.1602_1603insGTAAAAGATGTGGTGACATTATTCACAGAACAGGTAA | p.Ile535ValfsTer51 | p.I535Vfs*51 | Q5BKZ1 | protein_coding | | | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ZNF326 | SNV | Missense_Mutation | novel | c.1566G>T | p.Glu522Asp | p.E522D | Q5BKZ1 | protein_coding | tolerated_low_confidence(0.6) | benign(0.222) | TCGA-MU-A5YI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
ZNF326 | SNV | Missense_Mutation | | c.1001C>G | p.Ser334Cys | p.S334C | Q5BKZ1 | protein_coding | deleterious(0.03) | possibly_damaging(0.526) | TCGA-Q1-A73P-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF326 | SNV | Missense_Mutation | rs773591916 | c.407N>G | p.Tyr136Cys | p.Y136C | Q5BKZ1 | protein_coding | deleterious(0.01) | probably_damaging(0.956) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF326 | SNV | Missense_Mutation | | c.873G>T | p.Glu291Asp | p.E291D | Q5BKZ1 | protein_coding | tolerated(0.22) | probably_damaging(0.978) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ZNF326 | SNV | Missense_Mutation | rs201031234 | c.329G>A | p.Arg110Gln | p.R110Q | Q5BKZ1 | protein_coding | tolerated(0.14) | possibly_damaging(0.704) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF326 | SNV | Missense_Mutation | | c.1680N>T | p.Glu560Asp | p.E560D | Q5BKZ1 | protein_coding | tolerated_low_confidence(0.52) | benign(0.003) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |