GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190547513 | Breast | IDC | regulation of protein localization to membrane | 28/1434 | 175/18723 | 1.56e-04 | 2.71e-03 | 28 |
GO:001095913 | Breast | IDC | regulation of metal ion transport | 52/1434 | 406/18723 | 1.76e-04 | 2.97e-03 | 52 |
GO:003241111 | Breast | IDC | positive regulation of transporter activity | 20/1434 | 120/18723 | 7.64e-04 | 9.27e-03 | 20 |
GO:190547713 | Breast | IDC | positive regulation of protein localization to membrane | 18/1434 | 106/18723 | 1.10e-03 | 1.21e-02 | 18 |
GO:00432703 | Breast | IDC | positive regulation of ion transport | 36/1434 | 275/18723 | 1.11e-03 | 1.22e-02 | 36 |
GO:190382914 | Breast | IDC | positive regulation of cellular protein localization | 36/1434 | 276/18723 | 1.19e-03 | 1.28e-02 | 36 |
GO:002289812 | Breast | IDC | regulation of transmembrane transporter activity | 36/1434 | 278/18723 | 1.35e-03 | 1.40e-02 | 36 |
GO:003241411 | Breast | IDC | positive regulation of ion transmembrane transporter activity | 18/1434 | 109/18723 | 1.53e-03 | 1.53e-02 | 18 |
GO:003476711 | Breast | IDC | positive regulation of ion transmembrane transport | 24/1434 | 167/18723 | 2.07e-03 | 1.95e-02 | 24 |
GO:190307613 | Breast | IDC | regulation of protein localization to plasma membrane | 17/1434 | 104/18723 | 2.28e-03 | 2.09e-02 | 17 |
GO:190437513 | Breast | IDC | regulation of protein localization to cell periphery | 19/1434 | 125/18723 | 3.06e-03 | 2.60e-02 | 19 |
GO:0051924 | Breast | IDC | regulation of calcium ion transport | 32/1434 | 255/18723 | 3.94e-03 | 3.22e-02 | 32 |
GO:00324125 | Breast | IDC | regulation of ion transmembrane transporter activity | 33/1434 | 267/18723 | 4.38e-03 | 3.40e-02 | 33 |
GO:00324096 | Breast | IDC | regulation of transporter activity | 37/1434 | 310/18723 | 4.77e-03 | 3.66e-02 | 37 |
GO:00347644 | Breast | IDC | positive regulation of transmembrane transport | 28/1434 | 219/18723 | 5.19e-03 | 3.86e-02 | 28 |
GO:0051928 | Breast | IDC | positive regulation of calcium ion transport | 18/1434 | 122/18723 | 5.35e-03 | 3.95e-02 | 18 |
GO:00030125 | Breast | IDC | muscle system process | 50/1434 | 452/18723 | 5.52e-03 | 4.05e-02 | 50 |
GO:00726599 | Breast | IDC | protein localization to plasma membrane | 34/1434 | 284/18723 | 6.33e-03 | 4.47e-02 | 34 |
GO:001095921 | Breast | DCIS | regulation of metal ion transport | 50/1390 | 406/18723 | 2.86e-04 | 4.22e-03 | 50 |
GO:190382924 | Breast | DCIS | positive regulation of cellular protein localization | 37/1390 | 276/18723 | 3.40e-04 | 4.87e-03 | 37 |
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 |
STAC2 | SNV | Missense_Mutation | novel | c.365N>C | p.Ser122Thr | p.S122T | Q6ZMT1 | protein_coding | tolerated(1) | benign(0.082) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
STAC2 | SNV | Missense_Mutation | novel | c.1077C>G | p.Cys359Trp | p.C359W | Q6ZMT1 | protein_coding | deleterious(0.01) | possibly_damaging(0.787) | TCGA-AO-A124-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
STAC2 | SNV | Missense_Mutation | | c.811N>A | p.Pro271Thr | p.P271T | Q6ZMT1 | protein_coding | tolerated(0.59) | benign(0) | TCGA-D8-A140-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin+cyclophosphamid | SD |
STAC2 | deletion | Frame_Shift_Del | | c.1006_1012delNNNNNNN | p.Asp336LeufsTer12 | p.D336Lfs*12 | Q6ZMT1 | protein_coding | | | TCGA-E9-A1R2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | CR |
STAC2 | SNV | Missense_Mutation | novel | c.734N>A | p.Gly245Asp | p.G245D | Q6ZMT1 | protein_coding | tolerated(0.1) | benign(0.12) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
STAC2 | SNV | Missense_Mutation | | c.1003G>T | p.Gly335Cys | p.G335C | Q6ZMT1 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-DS-A7WF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
STAC2 | SNV | Missense_Mutation | | c.666C>A | p.Phe222Leu | p.F222L | Q6ZMT1 | protein_coding | tolerated(0.3) | benign(0) | TCGA-EA-A43B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
STAC2 | SNV | Missense_Mutation | | c.1216N>C | p.Asp406His | p.D406H | Q6ZMT1 | protein_coding | deleterious(0) | possibly_damaging(0.463) | TCGA-EK-A2H0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
STAC2 | SNV | Missense_Mutation | novel | c.1113G>A | p.Met371Ile | p.M371I | Q6ZMT1 | protein_coding | tolerated(0.57) | benign(0.009) | TCGA-ZJ-AAXT-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
STAC2 | SNV | Missense_Mutation | novel | c.935C>T | p.Ala312Val | p.A312V | Q6ZMT1 | protein_coding | deleterious(0.01) | possibly_damaging(0.5) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |