GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007265921 | Liver | HCC | protein localization to plasma membrane | 177/7958 | 284/18723 | 1.02e-11 | 4.18e-10 | 177 |
GO:199077821 | Liver | HCC | protein localization to cell periphery | 200/7958 | 333/18723 | 6.07e-11 | 2.23e-09 | 200 |
GO:004521622 | Liver | HCC | cell-cell junction organization | 107/7958 | 200/18723 | 1.06e-03 | 6.11e-03 | 107 |
GO:00016553 | Liver | HCC | urogenital system development | 170/7958 | 338/18723 | 2.15e-03 | 1.08e-02 | 170 |
GO:00219154 | Liver | HCC | neural tube development | 82/7958 | 152/18723 | 2.83e-03 | 1.33e-02 | 82 |
GO:00018222 | Liver | HCC | kidney development | 148/7958 | 293/18723 | 3.25e-03 | 1.49e-02 | 148 |
GO:00720012 | Liver | HCC | renal system development | 152/7958 | 302/18723 | 3.45e-03 | 1.56e-02 | 152 |
GO:003433211 | Liver | HCC | adherens junction organization | 30/7958 | 49/18723 | 6.31e-03 | 2.57e-02 | 30 |
GO:000704312 | Liver | HCC | cell-cell junction assembly | 76/7958 | 146/18723 | 1.23e-02 | 4.47e-02 | 76 |
GO:007265928 | Thyroid | ATC | protein localization to plasma membrane | 161/6293 | 284/18723 | 8.45e-16 | 6.52e-14 | 161 |
GO:199077826 | Thyroid | ATC | protein localization to cell periphery | 181/6293 | 333/18723 | 3.72e-15 | 2.56e-13 | 181 |
GO:000150332 | Thyroid | ATC | ossification | 206/6293 | 408/18723 | 9.23e-13 | 3.95e-11 | 206 |
GO:000182222 | Thyroid | ATC | kidney development | 146/6293 | 293/18723 | 5.81e-09 | 1.28e-07 | 146 |
GO:000165522 | Thyroid | ATC | urogenital system development | 164/6293 | 338/18723 | 7.92e-09 | 1.70e-07 | 164 |
GO:007200122 | Thyroid | ATC | renal system development | 149/6293 | 302/18723 | 9.48e-09 | 1.99e-07 | 149 |
GO:006056222 | Thyroid | ATC | epithelial tube morphogenesis | 156/6293 | 325/18723 | 4.48e-08 | 8.14e-07 | 156 |
GO:002191515 | Thyroid | ATC | neural tube development | 80/6293 | 152/18723 | 9.87e-07 | 1.29e-05 | 80 |
GO:006034813 | Thyroid | ATC | bone development | 102/6293 | 205/18723 | 1.18e-06 | 1.52e-05 | 102 |
GO:003432924 | Thyroid | ATC | cell junction assembly | 187/6293 | 420/18723 | 1.71e-06 | 2.08e-05 | 187 |
GO:006048521 | Thyroid | ATC | mesenchyme development | 136/6293 | 291/18723 | 2.04e-06 | 2.43e-05 | 136 |
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 |
DCHS1 | SNV | Missense_Mutation | novel | c.3877G>T | p.Ala1293Ser | p.A1293S | Q96JQ0 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
DCHS1 | SNV | Missense_Mutation | rs572329375 | c.976C>T | p.Arg326Trp | p.R326W | Q96JQ0 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
DCHS1 | SNV | Missense_Mutation | | c.6725A>G | p.Glu2242Gly | p.E2242G | Q96JQ0 | protein_coding | tolerated(0.07) | possibly_damaging(0.721) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DCHS1 | SNV | Missense_Mutation | | c.748G>T | p.Asp250Tyr | p.D250Y | Q96JQ0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DCHS1 | SNV | Missense_Mutation | | c.5243C>T | p.Ala1748Val | p.A1748V | Q96JQ0 | protein_coding | deleterious(0.01) | benign(0.06) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DCHS1 | SNV | Missense_Mutation | novel | c.1510N>G | p.Thr504Ala | p.T504A | Q96JQ0 | protein_coding | tolerated(0.5) | benign(0.02) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |
DCHS1 | SNV | Missense_Mutation | novel | c.6898N>T | p.Gly2300Trp | p.G2300W | Q96JQ0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
DCHS1 | SNV | Missense_Mutation | novel | c.2246N>T | p.Ala749Val | p.A749V | Q96JQ0 | protein_coding | tolerated(0.48) | benign(0.192) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
DCHS1 | SNV | Missense_Mutation | novel | c.6257N>T | p.Pro2086Leu | p.P2086L | Q96JQ0 | protein_coding | tolerated(0.47) | benign(0) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DCHS1 | SNV | Missense_Mutation | rs753184200 | c.5363N>A | p.Arg1788His | p.R1788H | Q96JQ0 | protein_coding | tolerated(0.1) | benign(0.007) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |