GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0051052 | Colorectum | AD | regulation of DNA metabolic process | 116/3918 | 359/18723 | 2.47e-07 | 1.00e-05 | 116 |
GO:2000278 | Colorectum | AD | regulation of DNA biosynthetic process | 41/3918 | 106/18723 | 2.17e-05 | 4.33e-04 | 41 |
GO:0071897 | Colorectum | AD | DNA biosynthetic process | 55/3918 | 180/18723 | 1.46e-03 | 1.24e-02 | 55 |
GO:20002781 | Colorectum | SER | regulation of DNA biosynthetic process | 33/2897 | 106/18723 | 3.83e-05 | 9.82e-04 | 33 |
GO:00510521 | Colorectum | SER | regulation of DNA metabolic process | 83/2897 | 359/18723 | 8.03e-05 | 1.77e-03 | 83 |
GO:00718971 | Colorectum | SER | DNA biosynthetic process | 43/2897 | 180/18723 | 1.99e-03 | 1.98e-02 | 43 |
GO:00510522 | Colorectum | MSS | regulation of DNA metabolic process | 108/3467 | 359/18723 | 5.86e-08 | 3.10e-06 | 108 |
GO:20002782 | Colorectum | MSS | regulation of DNA biosynthetic process | 37/3467 | 106/18723 | 4.48e-05 | 8.28e-04 | 37 |
GO:00718972 | Colorectum | MSS | DNA biosynthetic process | 50/3467 | 180/18723 | 1.45e-03 | 1.35e-02 | 50 |
GO:00510523 | Colorectum | MSI-H | regulation of DNA metabolic process | 45/1319 | 359/18723 | 1.20e-04 | 3.56e-03 | 45 |
GO:20002783 | Colorectum | MSI-H | regulation of DNA biosynthetic process | 19/1319 | 106/18723 | 1.40e-04 | 4.11e-03 | 19 |
GO:00718973 | Colorectum | MSI-H | DNA biosynthetic process | 26/1319 | 180/18723 | 3.73e-04 | 8.56e-03 | 26 |
GO:0006260 | Colorectum | MSI-H | DNA replication | 31/1319 | 260/18723 | 2.83e-03 | 3.63e-02 | 31 |
GO:00510524 | Colorectum | FAP | regulation of DNA metabolic process | 84/2622 | 359/18723 | 9.80e-07 | 4.38e-05 | 84 |
GO:20002784 | Colorectum | FAP | regulation of DNA biosynthetic process | 33/2622 | 106/18723 | 4.62e-06 | 1.54e-04 | 33 |
GO:00510525 | Colorectum | CRC | regulation of DNA metabolic process | 70/2078 | 359/18723 | 1.75e-06 | 8.92e-05 | 70 |
GO:20002785 | Colorectum | CRC | regulation of DNA biosynthetic process | 27/2078 | 106/18723 | 2.59e-05 | 7.16e-04 | 27 |
GO:0006275 | Colorectum | CRC | regulation of DNA replication | 21/2078 | 107/18723 | 6.56e-03 | 4.70e-02 | 21 |
GO:00303364 | Endometrium | AEH | negative regulation of cell migration | 65/2100 | 344/18723 | 1.65e-05 | 3.42e-04 | 65 |
GO:20001464 | Endometrium | AEH | negative regulation of cell motility | 67/2100 | 359/18723 | 1.86e-05 | 3.77e-04 | 67 |
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 |
DACH1 | SNV | Missense_Mutation | novel | c.1993N>A | p.Asp665Asn | p.D665N | Q9UI36 | protein_coding | deleterious_low_confidence(0.04) | benign(0.433) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
DACH1 | SNV | Missense_Mutation | novel | c.1430N>T | p.Arg477Ile | p.R477I | Q9UI36 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.967) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DACH1 | SNV | Missense_Mutation | novel | c.1174N>G | p.Ser392Gly | p.S392G | Q9UI36 | protein_coding | tolerated_low_confidence(0.27) | benign(0.006) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DACH1 | SNV | Missense_Mutation | novel | c.1304N>A | p.Arg435His | p.R435H | Q9UI36 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-D8-A141-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
DACH1 | deletion | Frame_Shift_Del | novel | c.1605delN | p.Asp535GlufsTer8 | p.D535Efs*8 | Q9UI36 | protein_coding | | | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DACH1 | SNV | Missense_Mutation | novel | c.1544A>G | p.Glu515Gly | p.E515G | Q9UI36 | protein_coding | deleterious_low_confidence(0.04) | benign(0.121) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DACH1 | SNV | Missense_Mutation | novel | c.1126G>A | p.Gly376Arg | p.G376R | Q9UI36 | protein_coding | deleterious_low_confidence(0) | benign(0.071) | TCGA-C5-A7CL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
DACH1 | SNV | Missense_Mutation | novel | c.113N>T | p.Ser38Leu | p.S38L | Q9UI36 | protein_coding | deleterious_low_confidence(0) | benign(0.217) | TCGA-C5-A7UH-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DACH1 | SNV | Missense_Mutation | rs867054570 | c.1907N>T | p.Ala636Val | p.A636V | Q9UI36 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.98) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
DACH1 | SNV | Missense_Mutation | novel | c.1933N>C | p.Glu645Gln | p.E645Q | Q9UI36 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.999) | TCGA-EA-A3QD-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |