GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190165319 | Esophagus | ESCC | cellular response to peptide | 208/8552 | 359/18723 | 1.68e-06 | 2.01e-05 | 208 |
GO:0043434111 | Esophagus | ESCC | response to peptide hormone | 234/8552 | 414/18723 | 4.93e-06 | 5.21e-05 | 234 |
GO:003286918 | Esophagus | ESCC | cellular response to insulin stimulus | 124/8552 | 203/18723 | 6.63e-06 | 6.75e-05 | 124 |
GO:003286818 | Esophagus | ESCC | response to insulin | 156/8552 | 264/18723 | 7.21e-06 | 7.20e-05 | 156 |
GO:00066318 | Esophagus | ESCC | fatty acid metabolic process | 217/8552 | 390/18723 | 4.21e-05 | 3.39e-04 | 217 |
GO:007137516 | Esophagus | ESCC | cellular response to peptide hormone stimulus | 166/8552 | 290/18723 | 4.48e-05 | 3.55e-04 | 166 |
GO:000663112 | Liver | Cirrhotic | fatty acid metabolic process | 165/4634 | 390/18723 | 1.29e-14 | 1.26e-12 | 165 |
GO:004343412 | Liver | Cirrhotic | response to peptide hormone | 149/4634 | 414/18723 | 1.70e-07 | 4.49e-06 | 149 |
GO:007137511 | Liver | Cirrhotic | cellular response to peptide hormone stimulus | 110/4634 | 290/18723 | 3.73e-07 | 8.82e-06 | 110 |
GO:190165311 | Liver | Cirrhotic | cellular response to peptide | 129/4634 | 359/18723 | 1.23e-06 | 2.49e-05 | 129 |
GO:003286911 | Liver | Cirrhotic | cellular response to insulin stimulus | 80/4634 | 203/18723 | 2.55e-06 | 4.63e-05 | 80 |
GO:003286811 | Liver | Cirrhotic | response to insulin | 95/4634 | 264/18723 | 2.77e-05 | 3.54e-04 | 95 |
GO:19000782 | Liver | Cirrhotic | positive regulation of cellular response to insulin stimulus | 15/4634 | 25/18723 | 1.88e-04 | 1.75e-03 | 15 |
GO:19000761 | Liver | Cirrhotic | regulation of cellular response to insulin stimulus | 26/4634 | 64/18723 | 3.69e-03 | 2.03e-02 | 26 |
GO:003286821 | Liver | HCC | response to insulin | 172/7958 | 264/18723 | 7.14e-14 | 4.23e-12 | 172 |
GO:000663122 | Liver | HCC | fatty acid metabolic process | 238/7958 | 390/18723 | 8.24e-14 | 4.84e-12 | 238 |
GO:003286921 | Liver | HCC | cellular response to insulin stimulus | 137/7958 | 203/18723 | 4.69e-13 | 2.44e-11 | 137 |
GO:004343422 | Liver | HCC | response to peptide hormone | 247/7958 | 414/18723 | 9.55e-13 | 4.77e-11 | 247 |
GO:007137521 | Liver | HCC | cellular response to peptide hormone stimulus | 179/7958 | 290/18723 | 2.54e-11 | 9.88e-10 | 179 |
GO:190165321 | Liver | HCC | cellular response to peptide | 211/7958 | 359/18723 | 2.86e-10 | 9.63e-09 | 211 |
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 |
ECHDC3 | SNV | Missense_Mutation | | c.343G>C | p.Glu115Gln | p.E115Q | Q96DC8 | protein_coding | tolerated(0.11) | benign(0.006) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
ECHDC3 | SNV | Missense_Mutation | | c.887N>A | p.Pro296His | p.P296H | Q96DC8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ECHDC3 | SNV | Missense_Mutation | novel | c.202N>G | p.Asn68Asp | p.N68D | Q96DC8 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ECHDC3 | SNV | Missense_Mutation | rs767063336 | c.230N>A | p.Ser77Tyr | p.S77Y | Q96DC8 | protein_coding | deleterious(0.02) | possibly_damaging(0.515) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ECHDC3 | SNV | Missense_Mutation | novel | c.370N>T | p.Val124Leu | p.V124L | Q96DC8 | protein_coding | deleterious(0.02) | benign(0.023) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ECHDC3 | SNV | Missense_Mutation | rs375815859 | c.460N>A | p.Gly154Ser | p.G154S | Q96DC8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ECHDC3 | SNV | Missense_Mutation | novel | c.500G>A | p.Ser167Asn | p.S167N | Q96DC8 | protein_coding | deleterious(0) | possibly_damaging(0.854) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
ECHDC3 | SNV | Missense_Mutation | novel | c.595G>A | p.Ala199Thr | p.A199T | Q96DC8 | protein_coding | deleterious(0) | probably_damaging(0.921) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ECHDC3 | SNV | Missense_Mutation | novel | c.518C>T | p.Ala173Val | p.A173V | Q96DC8 | protein_coding | deleterious(0) | possibly_damaging(0.461) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ECHDC3 | SNV | Missense_Mutation | novel | c.901N>A | p.Glu301Lys | p.E301K | Q96DC8 | protein_coding | tolerated(0.59) | benign(0.062) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |