GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005101717 | Endometrium | EEC | actin filament bundle assembly | 37/2168 | 157/18723 | 1.71e-05 | 3.26e-04 | 37 |
GO:005067814 | Endometrium | EEC | regulation of epithelial cell proliferation | 72/2168 | 381/18723 | 1.76e-05 | 3.33e-04 | 72 |
GO:007156014 | Endometrium | EEC | cellular response to transforming growth factor beta stimulus | 52/2168 | 250/18723 | 1.81e-05 | 3.41e-04 | 52 |
GO:004308712 | Endometrium | EEC | regulation of GTPase activity | 67/2168 | 348/18723 | 1.84e-05 | 3.43e-04 | 67 |
GO:003017713 | Endometrium | EEC | positive regulation of Wnt signaling pathway | 34/2168 | 140/18723 | 1.89e-05 | 3.50e-04 | 34 |
GO:000717814 | Endometrium | EEC | transmembrane receptor protein serine/threonine kinase signaling pathway | 68/2168 | 355/18723 | 1.90e-05 | 3.50e-04 | 68 |
GO:006113812 | Endometrium | EEC | morphogenesis of a branching epithelium | 41/2168 | 182/18723 | 1.96e-05 | 3.57e-04 | 41 |
GO:004348713 | Endometrium | EEC | regulation of RNA stability | 39/2168 | 170/18723 | 1.99e-05 | 3.60e-04 | 39 |
GO:003235514 | Endometrium | EEC | response to estradiol | 34/2168 | 141/18723 | 2.22e-05 | 3.98e-04 | 34 |
GO:002261212 | Endometrium | EEC | gland morphogenesis | 30/2168 | 118/18723 | 2.25e-05 | 4.02e-04 | 30 |
GO:003462016 | Endometrium | EEC | cellular response to unfolded protein | 26/2168 | 96/18723 | 2.38e-05 | 4.23e-04 | 26 |
GO:000176313 | Endometrium | EEC | morphogenesis of a branching structure | 43/2168 | 196/18723 | 2.47e-05 | 4.37e-04 | 43 |
GO:006157217 | Endometrium | EEC | actin filament bundle organization | 37/2168 | 161/18723 | 3.09e-05 | 5.34e-04 | 37 |
GO:190331217 | Endometrium | EEC | negative regulation of mRNA metabolic process | 25/2168 | 92/18723 | 3.19e-05 | 5.51e-04 | 25 |
GO:003596717 | Endometrium | EEC | cellular response to topologically incorrect protein | 29/2168 | 116/18723 | 4.28e-05 | 7.09e-04 | 29 |
GO:001943913 | Endometrium | EEC | aromatic compound catabolic process | 83/2168 | 467/18723 | 4.32e-05 | 7.10e-04 | 83 |
GO:009015015 | Endometrium | EEC | establishment of protein localization to membrane | 52/2168 | 260/18723 | 5.46e-05 | 8.64e-04 | 52 |
GO:003003816 | Endometrium | EEC | contractile actin filament bundle assembly | 27/2168 | 106/18723 | 5.47e-05 | 8.64e-04 | 27 |
GO:004314916 | Endometrium | EEC | stress fiber assembly | 27/2168 | 106/18723 | 5.47e-05 | 8.64e-04 | 27 |
GO:000989516 | Endometrium | EEC | negative regulation of catabolic process | 61/2168 | 320/18723 | 5.76e-05 | 8.97e-04 | 61 |
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 |
RP1 | SNV | Missense_Mutation | novel | c.81G>C | p.Leu27Phe | p.L27F | P56715 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RP1 | SNV | Missense_Mutation | rs747714373 | c.2978C>G | p.Ser993Cys | p.S993C | P56715 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RP1 | SNV | Missense_Mutation | | c.4362C>A | p.Ser1454Arg | p.S1454R | P56715 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
RP1 | SNV | Missense_Mutation | novel | c.1138N>T | p.Pro380Ser | p.P380S | | protein_coding | deleterious(0.04) | probably_damaging(0.923) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | novel | c.983N>G | p.Lys328Arg | p.K328R | | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | | c.2516N>C | p.Gln839Pro | p.Q839P | P56715 | protein_coding | deleterious(0.03) | possibly_damaging(0.641) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RP1 | SNV | Missense_Mutation | novel | c.4466C>T | p.Ala1489Val | p.A1489V | P56715 | protein_coding | tolerated(0.22) | benign(0.01) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
RP1 | SNV | Missense_Mutation | | c.2675N>T | p.Ala892Val | p.A892V | P56715 | protein_coding | tolerated(0.14) | benign(0.039) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RP1 | SNV | Missense_Mutation | | c.1895N>T | p.Ser632Leu | p.S632L | P56715 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RP1 | SNV | Missense_Mutation | | c.4027N>A | p.Asp1343Asn | p.D1343N | P56715 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |