GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004873216 | Endometrium | AEH | gland development | 83/2100 | 436/18723 | 8.62e-07 | 3.11e-05 | 83 |
GO:00447065 | Endometrium | AEH | multi-multicellular organism process | 45/2100 | 220/18723 | 4.55e-05 | 7.61e-04 | 45 |
GO:00097558 | Endometrium | AEH | hormone-mediated signaling pathway | 37/2100 | 190/18723 | 5.64e-04 | 5.62e-03 | 37 |
GO:0061448 | Endometrium | AEH | connective tissue development | 44/2100 | 252/18723 | 1.92e-03 | 1.51e-02 | 44 |
GO:00605414 | Endometrium | AEH | respiratory system development | 37/2100 | 203/18723 | 1.97e-03 | 1.54e-02 | 37 |
GO:00303246 | Endometrium | AEH | lung development | 33/2100 | 177/18723 | 2.30e-03 | 1.74e-02 | 33 |
GO:00303236 | Endometrium | AEH | respiratory tube development | 33/2100 | 181/18723 | 3.33e-03 | 2.32e-02 | 33 |
GO:00308798 | Endometrium | AEH | mammary gland development | 26/2100 | 137/18723 | 4.97e-03 | 3.13e-02 | 26 |
GO:004873217 | Endometrium | EEC | gland development | 83/2168 | 436/18723 | 3.08e-06 | 8.48e-05 | 83 |
GO:004470612 | Endometrium | EEC | multi-multicellular organism process | 45/2168 | 220/18723 | 9.73e-05 | 1.35e-03 | 45 |
GO:000975513 | Endometrium | EEC | hormone-mediated signaling pathway | 38/2168 | 190/18723 | 5.18e-04 | 5.21e-03 | 38 |
GO:00614481 | Endometrium | EEC | connective tissue development | 44/2168 | 252/18723 | 3.51e-03 | 2.36e-02 | 44 |
GO:006054112 | Endometrium | EEC | respiratory system development | 36/2168 | 203/18723 | 6.02e-03 | 3.57e-02 | 36 |
GO:003032414 | Endometrium | EEC | lung development | 32/2168 | 177/18723 | 6.93e-03 | 3.98e-02 | 32 |
GO:003087912 | Endometrium | EEC | mammary gland development | 26/2168 | 137/18723 | 7.50e-03 | 4.20e-02 | 26 |
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 |
RXFP1 | SNV | Missense_Mutation | novel | c.469G>A | p.Ala157Thr | p.A157T | | protein_coding | tolerated(0.19) | benign(0.009) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
RXFP1 | SNV | Missense_Mutation | | c.749N>A | p.Ser250Tyr | p.S250Y | | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | | c.1831N>G | p.Phe611Val | p.F611V | | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.878N>A | p.Thr293Asn | p.T293N | | protein_coding | deleterious(0.02) | possibly_damaging(0.855) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | rs781413042 | c.1967N>A | p.Arg656His | p.R656H | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
RXFP1 | SNV | Missense_Mutation | rs867646965 | c.1370N>A | p.Arg457Gln | p.R457Q | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
RXFP1 | SNV | Missense_Mutation | | c.1114N>T | p.Leu372Phe | p.L372F | | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.1019T>G | p.Leu340Arg | p.L340R | | protein_coding | tolerated(0.34) | benign(0.009) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.1964A>G | p.Lys655Arg | p.K655R | | protein_coding | deleterious(0.01) | probably_damaging(0.969) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.1516N>G | p.Trp506Gly | p.W506G | | protein_coding | deleterious(0.01) | possibly_damaging(0.766) | TCGA-BG-A0M3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | agonist | 135652435 | RELAXIN | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | antagonist | 178101185 | | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | | GNF-PF-574 | CHEMBL582737 | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | agonist | 135652434 | RELAXIN | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | | COLFORSIN | COLFORSIN | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | | 2-CHLOROADENOSINE | CHEMBL285819 | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | | NSC-675972 | CHEMBL1379243 | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | | DNDI1416917 | CHEMBL1335833 | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | | IB-MECA | IB-MECA | |
59350 | RXFP1 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, KINASE | agonist | 135651880 | RELAXIN | |