GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00614589 | Endometrium | AEH | reproductive system development | 88/2100 | 427/18723 | 9.50e-09 | 6.41e-07 | 88 |
GO:00486089 | Endometrium | AEH | reproductive structure development | 87/2100 | 424/18723 | 1.43e-08 | 9.12e-07 | 87 |
GO:00605376 | Endometrium | AEH | muscle tissue development | 83/2100 | 403/18723 | 2.57e-08 | 1.50e-06 | 83 |
GO:00017019 | Endometrium | AEH | in utero embryonic development | 73/2100 | 367/18723 | 7.18e-07 | 2.63e-05 | 73 |
GO:00147065 | Endometrium | AEH | striated muscle tissue development | 75/2100 | 384/18723 | 1.06e-06 | 3.62e-05 | 75 |
GO:00330022 | Endometrium | AEH | muscle cell proliferation | 51/2100 | 248/18723 | 1.26e-05 | 2.77e-04 | 51 |
GO:00075174 | Endometrium | AEH | muscle organ development | 60/2100 | 327/18723 | 8.19e-05 | 1.22e-03 | 60 |
GO:00604853 | Endometrium | AEH | mesenchyme development | 54/2100 | 291/18723 | 1.34e-04 | 1.83e-03 | 54 |
GO:00465452 | Endometrium | AEH | development of primary female sexual characteristics | 24/2100 | 100/18723 | 2.27e-04 | 2.75e-03 | 24 |
GO:00085852 | Endometrium | AEH | female gonad development | 23/2100 | 95/18723 | 2.65e-04 | 3.09e-03 | 23 |
GO:00486387 | Endometrium | AEH | regulation of developmental growth | 58/2100 | 330/18723 | 3.45e-04 | 3.80e-03 | 58 |
GO:00030072 | Endometrium | AEH | heart morphogenesis | 45/2100 | 246/18723 | 6.41e-04 | 6.23e-03 | 45 |
GO:00466602 | Endometrium | AEH | female sex differentiation | 25/2100 | 114/18723 | 7.30e-04 | 6.99e-03 | 25 |
GO:0048738 | Endometrium | AEH | cardiac muscle tissue development | 43/2100 | 236/18723 | 9.06e-04 | 8.30e-03 | 43 |
GO:00486396 | Endometrium | AEH | positive regulation of developmental growth | 33/2100 | 174/18723 | 1.72e-03 | 1.38e-02 | 33 |
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:0035265 | Endometrium | AEH | organ growth | 33/2100 | 178/18723 | 2.53e-03 | 1.87e-02 | 33 |
GO:00459278 | Endometrium | AEH | positive regulation of growth | 44/2100 | 259/18723 | 3.28e-03 | 2.30e-02 | 44 |
GO:00303236 | Endometrium | AEH | respiratory tube development | 33/2100 | 181/18723 | 3.33e-03 | 2.32e-02 | 33 |
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 |
ZFPM2 | SNV | Missense_Mutation | | c.2973N>G | p.Asp991Glu | p.D991E | Q8WW38 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZFPM2 | SNV | Missense_Mutation | | c.2576G>A | p.Cys859Tyr | p.C859Y | Q8WW38 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ZFPM2 | SNV | Missense_Mutation | novel | c.2915N>C | p.Ile972Thr | p.I972T | Q8WW38 | protein_coding | tolerated(0.06) | benign(0.054) | TCGA-EO-A1Y7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | portec3-radiation | SD |
ZFPM2 | SNV | Missense_Mutation | novel | c.421N>C | p.Lys141Gln | p.K141Q | Q8WW38 | protein_coding | tolerated(0.19) | probably_damaging(0.987) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZFPM2 | SNV | Missense_Mutation | novel | c.1261N>T | p.Pro421Ser | p.P421S | Q8WW38 | protein_coding | tolerated(0.73) | benign(0) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
ZFPM2 | SNV | Missense_Mutation | | c.1576C>T | p.Arg526Trp | p.R526W | Q8WW38 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
ZFPM2 | SNV | Missense_Mutation | rs774419461 | c.2405C>A | p.Ser802Tyr | p.S802Y | Q8WW38 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
ZFPM2 | SNV | Missense_Mutation | | c.1861N>A | p.Leu621Ile | p.L621I | Q8WW38 | protein_coding | tolerated(0.24) | benign(0.116) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
ZFPM2 | SNV | Missense_Mutation | rs781567366 | c.2200N>T | p.Arg734Cys | p.R734C | Q8WW38 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
ZFPM2 | SNV | Missense_Mutation | | c.1505C>A | p.Ser502Tyr | p.S502Y | Q8WW38 | protein_coding | deleterious(0.02) | benign(0.015) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |