Tissue | Expression Dynamics | Abbreviation |
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 |
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:0051646 | Liver | HCC | mitochondrion localization | 34/7958 | 50/18723 | 2.38e-04 | 1.79e-03 | 34 |
GO:005087822 | Liver | HCC | regulation of body fluid levels | 191/7958 | 379/18723 | 1.06e-03 | 6.11e-03 | 191 |
GO:000206422 | Liver | HCC | epithelial cell development | 114/7958 | 220/18723 | 3.19e-03 | 1.47e-02 | 114 |
GO:0048311 | Liver | HCC | mitochondrion distribution | 12/7958 | 16/18723 | 8.74e-03 | 3.40e-02 | 12 |
GO:000206413 | Lung | AIS | epithelial cell development | 48/1849 | 220/18723 | 1.06e-07 | 1.18e-05 | 48 |
GO:00508788 | Lung | AIS | regulation of body fluid levels | 57/1849 | 379/18723 | 8.60e-04 | 1.17e-02 | 57 |
GO:00075894 | Lung | AIS | body fluid secretion | 18/1849 | 93/18723 | 3.99e-03 | 3.65e-02 | 18 |
GO:0002064112 | Thyroid | PTC | epithelial cell development | 101/5968 | 220/18723 | 8.53e-06 | 9.74e-05 | 101 |
GO:00516465 | Thyroid | PTC | mitochondrion localization | 24/5968 | 50/18723 | 1.25e-02 | 4.88e-02 | 24 |
GO:000206428 | Thyroid | ATC | epithelial cell development | 103/6293 | 220/18723 | 3.06e-05 | 2.55e-04 | 103 |
GO:0050878112 | Thyroid | ATC | regulation of body fluid levels | 149/6293 | 379/18723 | 1.08e-02 | 3.90e-02 | 149 |
GO:005164612 | Thyroid | ATC | mitochondrion localization | 25/6293 | 50/18723 | 1.20e-02 | 4.27e-02 | 25 |
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 |
SLC4A5 | SNV | Missense_Mutation | novel | c.2727N>C | p.Glu909Asp | p.E909D | Q9BY07 | protein_coding | deleterious(0) | possibly_damaging(0.896) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
SLC4A5 | SNV | Missense_Mutation | | c.2338G>A | p.Asp780Asn | p.D780N | Q9BY07 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SLC4A5 | SNV | Missense_Mutation | | c.2320N>A | p.Val774Ile | p.V774I | Q9BY07 | protein_coding | tolerated(0.08) | benign(0.009) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
SLC4A5 | SNV | Missense_Mutation | | c.1883N>C | p.Ile628Thr | p.I628T | Q9BY07 | protein_coding | deleterious(0) | possibly_damaging(0.861) | TCGA-D8-A1XJ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
SLC4A5 | SNV | Missense_Mutation | | c.2003N>T | p.Asp668Val | p.D668V | Q9BY07 | protein_coding | tolerated(0.15) | possibly_damaging(0.673) | TCGA-E2-A158-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | arimidex | SD |
SLC4A5 | SNV | Missense_Mutation | rs767096839 | c.2213A>C | p.Lys738Thr | p.K738T | Q9BY07 | protein_coding | tolerated(0.19) | possibly_damaging(0.513) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SLC4A5 | SNV | Missense_Mutation | novel | c.1436C>T | p.Pro479Leu | p.P479L | Q9BY07 | protein_coding | tolerated(0.06) | probably_damaging(0.999) | TCGA-EW-A1J6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
SLC4A5 | SNV | Missense_Mutation | novel | c.1505N>A | p.Ile502Asn | p.I502N | Q9BY07 | protein_coding | deleterious(0) | possibly_damaging(0.88) | TCGA-HN-A2NL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SLC4A5 | insertion | Nonsense_Mutation | novel | c.2783_2784insGCATGGTGGCACGTGCCTGTAATCACAGC | p.Val929HisfsTer7 | p.V929Hfs*7 | Q9BY07 | protein_coding | | | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SLC4A5 | insertion | Frame_Shift_Ins | novel | c.2943_2944insGGGCCAGGAG | p.Ile982GlyfsTer92 | p.I982Gfs*92 | Q9BY07 | protein_coding | | | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |