GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001003814 | Breast | IDC | response to metal ion | 65/1434 | 373/18723 | 2.95e-10 | 3.42e-08 | 65 |
GO:005507613 | Breast | IDC | transition metal ion homeostasis | 23/1434 | 138/18723 | 3.20e-04 | 4.79e-03 | 23 |
GO:004691612 | Breast | IDC | cellular transition metal ion homeostasis | 20/1434 | 115/18723 | 4.35e-04 | 5.90e-03 | 20 |
GO:0010039 | Breast | IDC | response to iron ion | 8/1434 | 32/18723 | 2.32e-03 | 2.10e-02 | 8 |
GO:000682611 | Breast | IDC | iron ion transport | 11/1434 | 58/18723 | 4.10e-03 | 3.25e-02 | 11 |
GO:005507212 | Breast | IDC | iron ion homeostasis | 14/1434 | 85/18723 | 4.98e-03 | 3.77e-02 | 14 |
GO:001003824 | Breast | DCIS | response to metal ion | 65/1390 | 373/18723 | 8.03e-11 | 9.88e-09 | 65 |
GO:005507622 | Breast | DCIS | transition metal ion homeostasis | 23/1390 | 138/18723 | 2.04e-04 | 3.27e-03 | 23 |
GO:004691621 | Breast | DCIS | cellular transition metal ion homeostasis | 20/1390 | 115/18723 | 2.91e-04 | 4.27e-03 | 20 |
GO:00100391 | Breast | DCIS | response to iron ion | 8/1390 | 32/18723 | 1.90e-03 | 1.81e-02 | 8 |
GO:000682621 | Breast | DCIS | iron ion transport | 11/1390 | 58/18723 | 3.23e-03 | 2.73e-02 | 11 |
GO:005507221 | Breast | DCIS | iron ion homeostasis | 14/1390 | 85/18723 | 3.78e-03 | 3.03e-02 | 14 |
GO:0043112 | Colorectum | AD | receptor metabolic process | 62/3918 | 166/18723 | 8.18e-07 | 2.85e-05 | 62 |
GO:0072583 | Colorectum | AD | clathrin-dependent endocytosis | 24/3918 | 47/18723 | 4.60e-06 | 1.22e-04 | 24 |
GO:0006898 | Colorectum | AD | receptor-mediated endocytosis | 76/3918 | 244/18723 | 1.07e-04 | 1.59e-03 | 76 |
GO:0072665 | Colorectum | AD | protein localization to vacuole | 27/3918 | 67/18723 | 2.40e-04 | 3.04e-03 | 27 |
GO:0061462 | Colorectum | AD | protein localization to lysosome | 19/3918 | 46/18723 | 1.36e-03 | 1.19e-02 | 19 |
GO:0007369 | Colorectum | AD | gastrulation | 53/3918 | 185/18723 | 7.60e-03 | 4.60e-02 | 53 |
GO:0031623 | Colorectum | AD | receptor internalization | 35/3918 | 113/18723 | 7.72e-03 | 4.66e-02 | 35 |
GO:00431121 | Colorectum | MSS | receptor metabolic process | 57/3467 | 166/18723 | 8.47e-07 | 2.97e-05 | 57 |
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 |
BRD1 | SNV | Missense_Mutation | | c.808G>A | p.Asp270Asn | p.D270N | O95696 | protein_coding | deleterious(0.03) | benign(0.062) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BRD1 | SNV | Missense_Mutation | | c.1426N>A | p.Ala476Thr | p.A476T | O95696 | protein_coding | deleterious(0.01) | benign(0.234) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
BRD1 | SNV | Missense_Mutation | | c.928N>A | p.Glu310Lys | p.E310K | O95696 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A28Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BRD1 | deletion | Frame_Shift_Del | novel | c.1587delG | p.His530ThrfsTer9 | p.H530Tfs*9 | O95696 | protein_coding | | | TCGA-E2-A1LK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
BRD1 | SNV | Missense_Mutation | rs773212689 | c.3526N>T | p.Arg1176Cys | p.R1176C | O95696 | protein_coding | deleterious(0) | possibly_damaging(0.812) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BRD1 | SNV | Missense_Mutation | | c.643N>A | p.Ala215Thr | p.A215T | O95696 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BRD1 | SNV | Missense_Mutation | novel | c.28N>T | p.Gly10Cys | p.G10C | O95696 | protein_coding | tolerated(0.08) | possibly_damaging(0.497) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BRD1 | SNV | Missense_Mutation | | c.2020N>A | p.Gly674Ser | p.G674S | O95696 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-C5-A1MI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
BRD1 | SNV | Missense_Mutation | | c.964N>T | p.Arg322Trp | p.R322W | O95696 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A1MJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BRD1 | SNV | Missense_Mutation | | c.646N>A | p.Val216Met | p.V216M | O95696 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |