GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:0002262111 | Esophagus | ESCC | myeloid cell homeostasis | 104/8552 | 157/18723 | 1.49e-07 | 2.36e-06 | 104 |
GO:0034101111 | Esophagus | ESCC | erythrocyte homeostasis | 88/8552 | 129/18723 | 1.81e-07 | 2.84e-06 | 88 |
GO:0048872111 | Esophagus | ESCC | homeostasis of number of cells | 163/8552 | 272/18723 | 1.40e-06 | 1.69e-05 | 163 |
GO:0030218111 | Esophagus | ESCC | erythrocyte differentiation | 80/8552 | 120/18723 | 2.69e-06 | 3.08e-05 | 80 |
GO:1903706110 | Esophagus | ESCC | regulation of hemopoiesis | 201/8552 | 367/18723 | 2.60e-04 | 1.58e-03 | 201 |
GO:004563918 | Esophagus | ESCC | positive regulation of myeloid cell differentiation | 64/8552 | 103/18723 | 5.54e-04 | 3.03e-03 | 64 |
GO:0045637111 | Esophagus | ESCC | regulation of myeloid cell differentiation | 118/8552 | 210/18723 | 1.35e-03 | 6.43e-03 | 118 |
GO:004564619 | Esophagus | ESCC | regulation of erythrocyte differentiation | 32/8552 | 47/18723 | 1.59e-03 | 7.43e-03 | 32 |
GO:000691322 | Liver | HCC | nucleocytoplasmic transport | 208/7958 | 301/18723 | 5.51e-21 | 8.12e-19 | 208 |
GO:005116922 | Liver | HCC | nuclear transport | 208/7958 | 301/18723 | 5.51e-21 | 8.12e-19 | 208 |
GO:003410122 | Liver | HCC | erythrocyte homeostasis | 79/7958 | 129/18723 | 1.32e-05 | 1.47e-04 | 79 |
GO:000226222 | Liver | HCC | myeloid cell homeostasis | 93/7958 | 157/18723 | 1.67e-05 | 1.81e-04 | 93 |
GO:003021812 | Liver | HCC | erythrocyte differentiation | 73/7958 | 120/18723 | 3.82e-05 | 3.80e-04 | 73 |
GO:003009922 | Liver | HCC | myeloid cell differentiation | 200/7958 | 381/18723 | 4.64e-05 | 4.49e-04 | 200 |
GO:004887222 | Liver | HCC | homeostasis of number of cells | 147/7958 | 272/18723 | 7.48e-05 | 6.70e-04 | 147 |
GO:00456465 | Liver | HCC | regulation of erythrocyte differentiation | 28/7958 | 47/18723 | 1.36e-02 | 4.83e-02 | 28 |
GO:000691317 | Oral cavity | OSCC | nucleocytoplasmic transport | 204/7305 | 301/18723 | 2.65e-24 | 6.98e-22 | 204 |
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 |
ANKRD54 | insertion | Frame_Shift_Ins | novel | c.334_335insCATTTACTTTTTGT | p.Lys112ThrfsTer8 | p.K112Tfs*8 | Q6NXT1 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
ANKRD54 | insertion | Nonsense_Mutation | novel | c.712_713insCTTCAAAGCCTCCGTTCACTTCCTTTGAAGTTGCCAGTGGCTAGT | p.Val238delinsAlaSerLysProProPheThrSerPheGluValAlaSerGlyTerLeu | p.V238delinsASKPPFTSFEVASG*L | Q6NXT1 | protein_coding | | | TCGA-A8-A0A1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ANKRD54 | SNV | Missense_Mutation | novel | c.729N>G | p.His243Gln | p.H243Q | Q6NXT1 | protein_coding | tolerated(1) | benign(0.001) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ANKRD54 | SNV | Missense_Mutation | rs776362092 | c.847N>G | p.Leu283Val | p.L283V | Q6NXT1 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ANKRD54 | SNV | Missense_Mutation | novel | c.485N>C | p.Leu162Pro | p.L162P | Q6NXT1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EI-6511-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatinum+5-fu | SD |
ANKRD54 | SNV | Missense_Mutation | novel | c.626N>A | p.Gly209Asp | p.G209D | Q6NXT1 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKRD54 | SNV | Missense_Mutation | novel | c.341N>C | p.Leu114Pro | p.L114P | Q6NXT1 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANKRD54 | SNV | Missense_Mutation | novel | c.403N>T | p.Asp135Tyr | p.D135Y | Q6NXT1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKRD54 | SNV | Missense_Mutation | rs763605893 | c.620N>A | p.Arg207Gln | p.R207Q | Q6NXT1 | protein_coding | deleterious(0.04) | possibly_damaging(0.876) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANKRD54 | SNV | Missense_Mutation | novel | c.745N>A | p.Leu249Met | p.L249M | Q6NXT1 | protein_coding | tolerated(0.05) | probably_damaging(0.974) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |