GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00097913 | Colorectum | FAP | post-embryonic development | 23/2622 | 80/18723 | 4.51e-04 | 5.32e-03 | 23 |
GO:00306413 | Colorectum | FAP | regulation of cellular pH | 22/2622 | 81/18723 | 1.37e-03 | 1.24e-02 | 22 |
GO:00550672 | Colorectum | FAP | monovalent inorganic cation homeostasis | 35/2622 | 151/18723 | 1.58e-03 | 1.40e-02 | 35 |
GO:00218601 | Colorectum | FAP | pyramidal neuron development | 6/2622 | 11/18723 | 1.84e-03 | 1.57e-02 | 6 |
GO:00352641 | Colorectum | FAP | multicellular organism growth | 31/2622 | 132/18723 | 2.28e-03 | 1.84e-02 | 31 |
GO:00068852 | Colorectum | FAP | regulation of pH | 23/2622 | 91/18723 | 3.00e-03 | 2.27e-02 | 23 |
GO:00218591 | Colorectum | FAP | pyramidal neuron differentiation | 6/2622 | 13/18723 | 5.32e-03 | 3.49e-02 | 6 |
GO:00156981 | Colorectum | FAP | inorganic anion transport | 38/2622 | 180/18723 | 5.73e-03 | 3.67e-02 | 38 |
GO:0030900 | Colorectum | FAP | forebrain development | 70/2622 | 379/18723 | 8.64e-03 | 4.98e-02 | 70 |
GO:00357251 | Colorectum | CRC | sodium ion transmembrane transport | 39/2078 | 178/18723 | 2.30e-05 | 6.60e-04 | 39 |
GO:00068141 | Colorectum | CRC | sodium ion transport | 49/2078 | 245/18723 | 3.01e-05 | 7.86e-04 | 49 |
GO:00309001 | Colorectum | CRC | forebrain development | 66/2078 | 379/18723 | 1.36e-04 | 2.57e-03 | 66 |
GO:00097914 | Colorectum | CRC | post-embryonic development | 20/2078 | 80/18723 | 3.62e-04 | 5.45e-03 | 20 |
GO:00218602 | Colorectum | CRC | pyramidal neuron development | 6/2078 | 11/18723 | 5.22e-04 | 7.33e-03 | 6 |
GO:0050804 | Colorectum | CRC | modulation of chemical synaptic transmission | 70/2078 | 439/18723 | 1.15e-03 | 1.33e-02 | 70 |
GO:0099177 | Colorectum | CRC | regulation of trans-synaptic signaling | 70/2078 | 440/18723 | 1.23e-03 | 1.38e-02 | 70 |
GO:0021879 | Colorectum | CRC | forebrain neuron differentiation | 12/2078 | 42/18723 | 1.55e-03 | 1.63e-02 | 12 |
GO:00218592 | Colorectum | CRC | pyramidal neuron differentiation | 6/2078 | 13/18723 | 1.59e-03 | 1.68e-02 | 6 |
GO:00514533 | Colorectum | CRC | regulation of intracellular pH | 17/2078 | 75/18723 | 3.04e-03 | 2.71e-02 | 17 |
GO:0021872 | Colorectum | CRC | forebrain generation of neurons | 13/2078 | 51/18723 | 3.09e-03 | 2.73e-02 | 13 |
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 |
SLC4A1 | SNV | Missense_Mutation | rs28931585 | c.2608N>T | p.Arg870Trp | p.R870W | P02730 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A3KC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SLC4A1 | SNV | Missense_Mutation | | c.2722N>A | p.Ala908Thr | p.A908T | P02730 | protein_coding | tolerated(0.63) | benign(0) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC4A1 | SNV | Missense_Mutation | rs775748758 | c.2185G>A | p.Val729Met | p.V729M | P02730 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C8-A12L-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC4A1 | SNV | Missense_Mutation | | c.2147N>A | p.Ala716Asp | p.A716D | P02730 | protein_coding | deleterious(0.01) | possibly_damaging(0.454) | TCGA-E2-A15R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SLC4A1 | SNV | Missense_Mutation | | c.1232N>C | p.Phe411Ser | p.F411S | P02730 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-E2-A1L7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
SLC4A1 | SNV | Missense_Mutation | | c.1778N>G | p.Asn593Ser | p.N593S | P02730 | protein_coding | deleterious(0.02) | possibly_damaging(0.733) | TCGA-GM-A2DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | CR |
SLC4A1 | insertion | Frame_Shift_Ins | novel | c.2536_2537insGGGGAAATGA | p.Val846GlyfsTer47 | p.V846Gfs*47 | P02730 | protein_coding | | | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD |
SLC4A1 | insertion | Frame_Shift_Ins | novel | c.2534_2535insTGTGTCTTCATTTTGCTCACCTGTAA | p.Leu847SerfsTer13 | p.L847Sfs*13 | P02730 | protein_coding | | | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD |
SLC4A1 | SNV | Missense_Mutation | novel | c.1735N>A | p.Ala579Thr | p.A579T | P02730 | protein_coding | tolerated(0.09) | benign(0.103) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SLC4A1 | SNV | Missense_Mutation | novel | c.856N>T | p.Ala286Ser | p.A286S | P02730 | protein_coding | tolerated(1) | possibly_damaging(0.469) | TCGA-C5-A1ME-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |