GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003297026 | Oral cavity | EOLP | regulation of actin filament-based process | 93/2218 | 397/18723 | 5.39e-11 | 7.03e-09 | 93 |
GO:003295626 | Oral cavity | EOLP | regulation of actin cytoskeleton organization | 84/2218 | 358/18723 | 4.24e-10 | 3.65e-08 | 84 |
GO:190290525 | Oral cavity | EOLP | positive regulation of supramolecular fiber organization | 57/2218 | 209/18723 | 8.27e-10 | 6.12e-08 | 57 |
GO:005123525 | Oral cavity | EOLP | maintenance of location | 75/2218 | 327/18723 | 1.04e-08 | 4.98e-07 | 75 |
GO:005165125 | Oral cavity | EOLP | maintenance of location in cell | 54/2218 | 214/18723 | 4.26e-08 | 1.64e-06 | 54 |
GO:011005326 | Oral cavity | EOLP | regulation of actin filament organization | 65/2218 | 278/18723 | 4.55e-08 | 1.72e-06 | 65 |
GO:009758122 | Oral cavity | EOLP | lamellipodium organization | 30/2218 | 90/18723 | 6.89e-08 | 2.49e-06 | 30 |
GO:005149524 | Oral cavity | EOLP | positive regulation of cytoskeleton organization | 55/2218 | 226/18723 | 1.19e-07 | 3.99e-06 | 55 |
GO:190382925 | Oral cavity | EOLP | positive regulation of cellular protein localization | 63/2218 | 276/18723 | 1.84e-07 | 5.87e-06 | 63 |
GO:003003214 | Oral cavity | EOLP | lamellipodium assembly | 25/2218 | 72/18723 | 3.46e-07 | 1.01e-05 | 25 |
GO:003134621 | Oral cavity | EOLP | positive regulation of cell projection organization | 74/2218 | 353/18723 | 6.00e-07 | 1.56e-05 | 74 |
GO:004518522 | Oral cavity | EOLP | maintenance of protein location | 28/2218 | 94/18723 | 2.44e-06 | 5.45e-05 | 28 |
GO:001097515 | Oral cavity | EOLP | regulation of neuron projection development | 86/2218 | 445/18723 | 2.75e-06 | 6.05e-05 | 86 |
GO:003250724 | Oral cavity | EOLP | maintenance of protein location in cell | 22/2218 | 65/18723 | 2.82e-06 | 6.18e-05 | 22 |
GO:190211712 | Oral cavity | EOLP | positive regulation of organelle assembly | 22/2218 | 67/18723 | 4.97e-06 | 1.02e-04 | 22 |
GO:007265924 | Oral cavity | EOLP | protein localization to plasma membrane | 59/2218 | 284/18723 | 1.07e-05 | 1.91e-04 | 59 |
GO:190211521 | Oral cavity | EOLP | regulation of organelle assembly | 43/2218 | 186/18723 | 1.11e-05 | 1.94e-04 | 43 |
GO:004586017 | Oral cavity | EOLP | positive regulation of protein kinase activity | 74/2218 | 386/18723 | 1.78e-05 | 2.89e-04 | 74 |
GO:003812723 | Oral cavity | EOLP | ERBB signaling pathway | 31/2218 | 121/18723 | 2.21e-05 | 3.37e-04 | 31 |
GO:199077823 | Oral cavity | EOLP | protein localization to cell periphery | 65/2218 | 333/18723 | 3.17e-05 | 4.48e-04 | 65 |
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 |
CCDC8 | SNV | Missense_Mutation | | c.704N>T | p.Gly235Val | p.G235V | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.571) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC8 | SNV | Missense_Mutation | rs752421136 | c.1234G>A | p.Val412Ile | p.V412I | Q9H0W5 | protein_coding | tolerated_low_confidence(0.48) | benign(0) | TCGA-BH-A1FH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
CCDC8 | SNV | Missense_Mutation | | c.1463G>T | p.Trp488Leu | p.W488L | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-C8-A275-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC8 | SNV | Missense_Mutation | rs764873641 | c.112N>T | p.Arg38Trp | p.R38W | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | benign(0.095) | TCGA-C5-A1ML-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
CCDC8 | SNV | Missense_Mutation | | c.583N>T | p.Arg195Trp | p.R195W | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.995) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC8 | SNV | Missense_Mutation | | c.290N>G | p.Tyr97Cys | p.Y97C | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.973) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC8 | SNV | Missense_Mutation | rs754734333 | c.1373N>T | p.Ala458Val | p.A458V | Q9H0W5 | protein_coding | tolerated_low_confidence(0.06) | benign(0.007) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
CCDC8 | SNV | Missense_Mutation | | c.292N>A | p.Asp98Asn | p.D98N | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CCDC8 | SNV | Missense_Mutation | | c.960N>T | p.Arg320Ser | p.R320S | Q9H0W5 | protein_coding | deleterious_low_confidence(0.01) | benign(0.33) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC8 | SNV | Missense_Mutation | | c.1577N>C | p.Arg526Thr | p.R526T | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.719) | TCGA-AA-3819-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |