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.4880N>A | p.Pro1627Gln | p.P1627Q | Q96JQ0 | protein_coding | deleterious(0.02) | possibly_damaging(0.882) | TCGA-PG-A917-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DCHS1 | SNV | Missense_Mutation | rs745894081 | c.9553C>T | p.Arg3185Trp | p.R3185W | Q96JQ0 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
DCHS1 | deletion | In_Frame_Del | | c.3616_3618delNNN | p.Asp1206del | p.D1206del | Q96JQ0 | protein_coding | | | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DCHS1 | insertion | Frame_Shift_Ins | novel | c.2810dupG | p.Gly938TrpfsTer28 | p.G938Wfs*28 | Q96JQ0 | protein_coding | | | TCGA-BS-A0TJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DCHS1 | deletion | Frame_Shift_Del | novel | c.1120delN | p.Gln374LysfsTer41 | p.Q374Kfs*41 | Q96JQ0 | protein_coding | | | TCGA-D1-A1O7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DCHS1 | deletion | Frame_Shift_Del | | c.3662delN | p.Gly1221AlafsTer16 | p.G1221Afs*16 | Q96JQ0 | protein_coding | | | TCGA-D1-A2G0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DCHS1 | deletion | Frame_Shift_Del | novel | c.1120delN | p.Gln374LysfsTer41 | p.Q374Kfs*41 | Q96JQ0 | protein_coding | | | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
DCHS1 | SNV | Missense_Mutation | rs367639691 | c.334C>T | p.Arg112Trp | p.R112W | Q96JQ0 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-2Y-A9GT-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
DCHS1 | SNV | Missense_Mutation | novel | c.9784G>C | p.Ala3262Pro | p.A3262P | Q96JQ0 | protein_coding | deleterious(0) | benign(0.141) | TCGA-3K-AAZ8-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | III/IV | Targeted Molecular therapy | sorafenib | PD |
DCHS1 | SNV | Missense_Mutation | | c.8570C>A | p.Pro2857His | p.P2857H | Q96JQ0 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-CC-A7IJ-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |