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 | rs771240923 | c.652N>T | p.Pro218Ser | p.P218S | | protein_coding | deleterious(0.04) | benign(0.303) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.1681N>T | p.Leu561Phe | p.L561F | | protein_coding | tolerated(0.64) | benign(0.013) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.128A>G | p.Gln43Arg | p.Q43R | | protein_coding | tolerated(0.29) | benign(0.405) | TCGA-AJ-A23O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.2207N>A | p.Gly736Asp | p.G736D | | protein_coding | tolerated(0.68) | benign(0.001) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RXFP1 | SNV | Missense_Mutation | novel | c.1259C>A | p.Thr420Asn | p.T420N | | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | | c.1285N>A | p.Leu429Ile | p.L429I | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | | c.749N>A | p.Ser250Tyr | p.S250Y | | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | | c.596N>A | p.Gly199Glu | p.G199E | | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-AP-A0LP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Hormone Therapy | megace | SD |
RXFP1 | SNV | Missense_Mutation | novel | c.2105N>A | p.Ala702Asp | p.A702D | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RXFP1 | SNV | Missense_Mutation | | c.749N>A | p.Ser250Tyr | p.S250Y | | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | 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 | |