GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045921 | Colorectum | AD | positive regulation of exocytosis | 33/3918 | 86/18723 | 1.58e-04 | 2.20e-03 | 33 |
GO:0051047 | Colorectum | AD | positive regulation of secretion | 90/3918 | 310/18723 | 4.11e-04 | 4.66e-03 | 90 |
GO:0030004 | Colorectum | AD | cellular monovalent inorganic cation homeostasis | 36/3918 | 103/18723 | 6.80e-04 | 6.95e-03 | 36 |
GO:1903532 | Colorectum | AD | positive regulation of secretion by cell | 82/3918 | 282/18723 | 6.85e-04 | 7.00e-03 | 82 |
GO:0030641 | Colorectum | AD | regulation of cellular pH | 29/3918 | 81/18723 | 1.42e-03 | 1.22e-02 | 29 |
GO:0006887 | Colorectum | AD | exocytosis | 96/3918 | 352/18723 | 2.48e-03 | 1.90e-02 | 96 |
GO:0017157 | Colorectum | AD | regulation of exocytosis | 59/3918 | 202/18723 | 3.20e-03 | 2.36e-02 | 59 |
GO:0051453 | Colorectum | AD | regulation of intracellular pH | 26/3918 | 75/18723 | 4.04e-03 | 2.82e-02 | 26 |
GO:0006885 | Colorectum | AD | regulation of pH | 30/3918 | 91/18723 | 4.95e-03 | 3.32e-02 | 30 |
GO:0055067 | Colorectum | AD | monovalent inorganic cation homeostasis | 45/3918 | 151/18723 | 6.19e-03 | 3.88e-02 | 45 |
GO:0099003 | Colorectum | AD | vesicle-mediated transport in synapse | 57/3918 | 200/18723 | 6.53e-03 | 4.06e-02 | 57 |
GO:0015698 | Colorectum | AD | inorganic anion transport | 52/3918 | 180/18723 | 6.83e-03 | 4.22e-02 | 52 |
GO:00990032 | Colorectum | FAP | vesicle-mediated transport in synapse | 51/2622 | 200/18723 | 1.09e-05 | 3.08e-04 | 51 |
GO:00995041 | Colorectum | FAP | synaptic vesicle cycle | 45/2622 | 181/18723 | 6.73e-05 | 1.28e-03 | 45 |
GO:0035725 | Colorectum | FAP | sodium ion transmembrane transport | 44/2622 | 178/18723 | 9.31e-05 | 1.60e-03 | 44 |
GO:0023061 | Colorectum | FAP | signal release | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
GO:00510473 | Colorectum | FAP | positive regulation of secretion | 67/2622 | 310/18723 | 1.59e-04 | 2.43e-03 | 67 |
GO:19035322 | Colorectum | FAP | positive regulation of secretion by cell | 62/2622 | 282/18723 | 1.67e-04 | 2.52e-03 | 62 |
GO:01501041 | Colorectum | FAP | transport across blood-brain barrier | 25/2622 | 87/18723 | 2.63e-04 | 3.59e-03 | 25 |
GO:00102321 | Colorectum | FAP | vascular transport | 25/2622 | 88/18723 | 3.19e-04 | 4.12e-03 | 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 |
SLC4A8 | SNV | Missense_Mutation | novel | c.2866N>C | p.Thr956Pro | p.T956P | Q2Y0W8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
SLC4A8 | SNV | Missense_Mutation | novel | c.1780G>A | p.Glu594Lys | p.E594K | Q2Y0W8 | protein_coding | deleterious(0.02) | benign(0.167) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SLC4A8 | SNV | Missense_Mutation | | c.681N>T | p.Lys227Asn | p.K227N | Q2Y0W8 | protein_coding | deleterious(0.03) | benign(0.168) | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC4A8 | SNV | Missense_Mutation | | c.1331N>T | p.Glu444Val | p.E444V | Q2Y0W8 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC4A8 | SNV | Missense_Mutation | | c.796N>G | p.Thr266Ala | p.T266A | Q2Y0W8 | protein_coding | tolerated(0.72) | benign(0.003) | TCGA-E2-A1IG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SLC4A8 | SNV | Missense_Mutation | novel | c.2866N>C | p.Thr956Pro | p.T956P | Q2Y0W8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A22A-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
SLC4A8 | insertion | Nonsense_Mutation | novel | c.1518_1519insCATTTATAGTTATACCATCCATATGAGCCTCAGATCTTTCCC | p.Gly506_Arg507insHisLeuTerLeuTyrHisProTyrGluProGlnIlePhePro | p.G506_R507insHL*LYHPYEPQIFP | Q2Y0W8 | protein_coding | | | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
SLC4A8 | insertion | Nonsense_Mutation | novel | c.1203_1204insTGTGAATGTCTTGACTAGTCTGTACCAAAACAACCA | p.Trp401_Asp402insCysGluCysLeuAspTerSerValProLysGlnPro | p.W401_D402insCECLD*SVPKQP | Q2Y0W8 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
SLC4A8 | insertion | Nonsense_Mutation | novel | c.1610_1611insCCTTAAGTTGGTTTTGCACATTTCCTCCTAACAGCTCAGAAT | p.Ser537_Thr538insLeuLysLeuValLeuHisIleSerSerTerGlnLeuArgIle | p.S537_T538insLKLVLHISS*QLRI | Q2Y0W8 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC4A8 | insertion | Frame_Shift_Ins | novel | c.1611_1612insC | p.Thr538HisfsTer8 | p.T538Hfs*8 | Q2Y0W8 | protein_coding | | | TCGA-B6-A0I5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |