GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0015931 | Colorectum | AD | nucleobase-containing compound transport | 73/3918 | 222/18723 | 2.02e-05 | 4.10e-04 | 73 |
GO:0060249 | Colorectum | AD | anatomical structure homeostasis | 94/3918 | 314/18723 | 9.37e-05 | 1.42e-03 | 94 |
GO:0001894 | Colorectum | AD | tissue homeostasis | 81/3918 | 268/18723 | 1.96e-04 | 2.62e-03 | 81 |
GO:00018941 | Colorectum | SER | tissue homeostasis | 66/2897 | 268/18723 | 5.87e-05 | 1.37e-03 | 66 |
GO:00602491 | Colorectum | SER | anatomical structure homeostasis | 74/2897 | 314/18723 | 1.01e-04 | 2.13e-03 | 74 |
GO:00159311 | Colorectum | SER | nucleobase-containing compound transport | 54/2897 | 222/18723 | 3.65e-04 | 5.67e-03 | 54 |
GO:00159312 | Colorectum | MSS | nucleobase-containing compound transport | 70/3467 | 222/18723 | 1.92e-06 | 6.01e-05 | 70 |
GO:00602492 | Colorectum | MSS | anatomical structure homeostasis | 84/3467 | 314/18723 | 1.87e-04 | 2.64e-03 | 84 |
GO:00018942 | Colorectum | MSS | tissue homeostasis | 72/3467 | 268/18723 | 4.53e-04 | 5.40e-03 | 72 |
GO:0150104 | Colorectum | MSS | transport across blood-brain barrier | 28/3467 | 87/18723 | 1.54e-03 | 1.41e-02 | 28 |
GO:0010232 | Colorectum | MSS | vascular transport | 28/3467 | 88/18723 | 1.87e-03 | 1.64e-02 | 28 |
GO:00018944 | Colorectum | FAP | tissue homeostasis | 61/2622 | 268/18723 | 6.71e-05 | 1.28e-03 | 61 |
GO:00602494 | Colorectum | FAP | anatomical structure homeostasis | 69/2622 | 314/18723 | 7.51e-05 | 1.37e-03 | 69 |
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 |
GO:0003018 | Colorectum | FAP | vascular process in circulatory system | 56/2622 | 263/18723 | 7.67e-04 | 8.12e-03 | 56 |
GO:00159314 | Colorectum | FAP | nucleobase-containing compound transport | 45/2622 | 222/18723 | 6.22e-03 | 3.90e-02 | 45 |
GO:00602495 | Colorectum | CRC | anatomical structure homeostasis | 57/2078 | 314/18723 | 1.24e-04 | 2.41e-03 | 57 |
GO:00018945 | Colorectum | CRC | tissue homeostasis | 48/2078 | 268/18723 | 5.56e-04 | 7.70e-03 | 48 |
GO:00030181 | Colorectum | CRC | vascular process in circulatory system | 45/2078 | 263/18723 | 2.10e-03 | 2.08e-02 | 45 |
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 |
SLC28A2 | SNV | Missense_Mutation | | c.923G>C | p.Gly308Ala | p.G308A | O43868 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A426-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
SLC28A2 | SNV | Missense_Mutation | rs767103219 | c.1336G>A | p.Glu446Lys | p.E446K | O43868 | protein_coding | tolerated(0.2) | possibly_damaging(0.544) | TCGA-A8-A099-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
SLC28A2 | SNV | Missense_Mutation | novel | c.491N>T | p.Ala164Val | p.A164V | O43868 | protein_coding | tolerated(0.85) | benign(0.007) | TCGA-E2-A14R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
SLC28A2 | SNV | Missense_Mutation | | c.175N>C | p.Ser59Arg | p.S59R | O43868 | protein_coding | tolerated(0.57) | benign(0.001) | TCGA-E2-A150-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SLC28A2 | insertion | Frame_Shift_Ins | novel | c.570_571insAGGGCTAAAAGGAGTAGTTACCCTGTGACTCTTTCTTTGAGGG | p.Ser191ArgfsTer44 | p.S191Rfs*44 | O43868 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC28A2 | deletion | Frame_Shift_Del | novel | c.1735delN | p.Ala579ProfsTer45 | p.A579Pfs*45 | O43868 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
SLC28A2 | SNV | Missense_Mutation | novel | c.1430N>T | p.Cys477Phe | p.C477F | O43868 | protein_coding | deleterious(0.02) | probably_damaging(0.943) | TCGA-EA-A439-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
SLC28A2 | SNV | Missense_Mutation | rs759432504 | c.1170G>C | p.Lys390Asn | p.K390N | O43868 | protein_coding | tolerated(0.09) | possibly_damaging(0.77) | TCGA-MU-A8JM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SLC28A2 | SNV | Missense_Mutation | | c.1368G>T | p.Gln456His | p.Q456H | O43868 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SLC28A2 | SNV | Missense_Mutation | novel | c.895A>T | p.Thr299Ser | p.T299S | O43868 | protein_coding | tolerated(0.99) | benign(0.402) | TCGA-AA-3930-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | capecitabine | PD |