GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006605 | Colorectum | AD | protein targeting | 105/3918 | 314/18723 | 1.39e-07 | 6.44e-06 | 105 |
GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
GO:0001558 | Colorectum | AD | regulation of cell growth | 124/3918 | 414/18723 | 7.67e-06 | 1.86e-04 | 124 |
GO:0030307 | Colorectum | AD | positive regulation of cell growth | 54/3918 | 166/18723 | 3.08e-04 | 3.69e-03 | 54 |
GO:0045927 | Colorectum | AD | positive regulation of growth | 77/3918 | 259/18723 | 4.82e-04 | 5.27e-03 | 77 |
GO:0090257 | Colorectum | AD | regulation of muscle system process | 73/3918 | 252/18723 | 1.46e-03 | 1.24e-02 | 73 |
GO:0048638 | Colorectum | AD | regulation of developmental growth | 92/3918 | 330/18723 | 1.48e-03 | 1.25e-02 | 92 |
GO:0048588 | Colorectum | AD | developmental cell growth | 67/3918 | 234/18723 | 3.03e-03 | 2.25e-02 | 67 |
GO:0048639 | Colorectum | AD | positive regulation of developmental growth | 52/3918 | 174/18723 | 3.24e-03 | 2.38e-02 | 52 |
GO:0051591 | Colorectum | AD | response to cAMP | 31/3918 | 93/18723 | 3.59e-03 | 2.58e-02 | 31 |
GO:0071320 | Colorectum | AD | cellular response to cAMP | 20/3918 | 53/18723 | 3.71e-03 | 2.62e-02 | 20 |
GO:0051651 | Colorectum | AD | maintenance of location in cell | 61/3918 | 214/18723 | 5.02e-03 | 3.37e-02 | 61 |
GO:0032411 | Colorectum | AD | positive regulation of transporter activity | 37/3918 | 120/18723 | 6.82e-03 | 4.22e-02 | 37 |
GO:0043502 | Colorectum | AD | regulation of muscle adaptation | 31/3918 | 98/18723 | 8.45e-03 | 4.94e-02 | 31 |
GO:00066051 | Colorectum | SER | protein targeting | 76/2897 | 314/18723 | 3.19e-05 | 8.47e-04 | 76 |
GO:00902571 | Colorectum | SER | regulation of muscle system process | 60/2897 | 252/18723 | 3.28e-04 | 5.22e-03 | 60 |
GO:00015581 | Colorectum | SER | regulation of cell growth | 90/2897 | 414/18723 | 4.00e-04 | 6.02e-03 | 90 |
GO:00160491 | Colorectum | SER | cell growth | 100/2897 | 482/18723 | 1.07e-03 | 1.24e-02 | 100 |
GO:00435021 | Colorectum | SER | regulation of muscle adaptation | 27/2897 | 98/18723 | 1.54e-03 | 1.65e-02 | 27 |
GO:00324111 | Colorectum | SER | positive regulation of transporter activity | 31/2897 | 120/18723 | 2.25e-03 | 2.16e-02 | 31 |
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 |
AKAP6 | SNV | Missense_Mutation | rs764623922 | c.3208G>T | p.Asp1070Tyr | p.D1070Y | Q13023 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | novel | c.895C>T | p.Leu299Phe | p.L299F | Q13023 | protein_coding | tolerated(0.08) | benign(0.34) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | novel | c.1043C>T | p.Ser348Phe | p.S348F | Q13023 | protein_coding | tolerated(0.68) | possibly_damaging(0.556) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | novel | c.3372G>T | p.Lys1124Asn | p.K1124N | Q13023 | protein_coding | deleterious(0.01) | benign(0.154) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | rs201188217 | c.5627G>A | p.Arg1876His | p.R1876H | Q13023 | protein_coding | deleterious(0.03) | benign(0.132) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | rs745838442 | c.2008N>A | p.Glu670Lys | p.E670K | Q13023 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | novel | c.1256C>A | p.Pro419His | p.P419H | Q13023 | protein_coding | tolerated(0.06) | possibly_damaging(0.635) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | novel | c.3776C>A | p.Pro1259His | p.P1259H | Q13023 | protein_coding | tolerated(0.06) | benign(0.436) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | novel | c.4423G>T | p.Gly1475Cys | p.G1475C | Q13023 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AKAP6 | SNV | Missense_Mutation | novel | c.3363A>C | p.Gln1121His | p.Q1121H | Q13023 | protein_coding | tolerated(0.08) | possibly_damaging(0.818) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |