GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00070158 | Lung | IAC | actin filament organization | 92/2061 | 442/18723 | 1.01e-09 | 1.93e-07 | 92 |
GO:00329708 | Lung | IAC | regulation of actin filament-based process | 77/2061 | 397/18723 | 4.85e-07 | 3.10e-05 | 77 |
GO:00329568 | Lung | IAC | regulation of actin cytoskeleton organization | 70/2061 | 358/18723 | 1.17e-06 | 6.20e-05 | 70 |
GO:00106398 | Lung | IAC | negative regulation of organelle organization | 68/2061 | 348/18723 | 1.69e-06 | 8.24e-05 | 68 |
GO:19029038 | Lung | IAC | regulation of supramolecular fiber organization | 73/2061 | 383/18723 | 1.87e-06 | 8.87e-05 | 73 |
GO:00514947 | Lung | IAC | negative regulation of cytoskeleton organization | 38/2061 | 163/18723 | 5.35e-06 | 2.08e-04 | 38 |
GO:01100538 | Lung | IAC | regulation of actin filament organization | 54/2061 | 278/18723 | 2.27e-05 | 6.28e-04 | 54 |
GO:19029047 | Lung | IAC | negative regulation of supramolecular fiber organization | 37/2061 | 167/18723 | 2.38e-05 | 6.50e-04 | 37 |
GO:00325357 | Lung | IAC | regulation of cellular component size | 65/2061 | 383/18723 | 2.56e-04 | 4.26e-03 | 65 |
GO:00432422 | Lung | IAC | negative regulation of protein-containing complex disassembly | 19/2061 | 82/18723 | 1.23e-03 | 1.42e-02 | 19 |
GO:00224118 | Lung | IAC | cellular component disassembly | 68/2061 | 443/18723 | 2.89e-03 | 2.60e-02 | 68 |
GO:00081548 | Lung | IAC | actin polymerization or depolymerization | 37/2061 | 218/18723 | 4.96e-03 | 3.79e-02 | 37 |
GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
GO:1902903113 | Thyroid | PTC | regulation of supramolecular fiber organization | 202/5968 | 383/18723 | 1.16e-17 | 1.15e-15 | 202 |
GO:0007015112 | Thyroid | PTC | actin filament organization | 225/5968 | 442/18723 | 3.76e-17 | 3.44e-15 | 225 |
GO:0032956113 | Thyroid | PTC | regulation of actin cytoskeleton organization | 182/5968 | 358/18723 | 4.64e-14 | 2.79e-12 | 182 |
GO:0032970113 | Thyroid | PTC | regulation of actin filament-based process | 197/5968 | 397/18723 | 8.91e-14 | 4.89e-12 | 197 |
GO:0110053112 | Thyroid | PTC | regulation of actin filament organization | 146/5968 | 278/18723 | 5.87e-13 | 2.85e-11 | 146 |
GO:000815426 | Thyroid | PTC | actin polymerization or depolymerization | 117/5968 | 218/18723 | 1.85e-11 | 7.21e-10 | 117 |
GO:0032535112 | Thyroid | PTC | regulation of cellular component size | 181/5968 | 383/18723 | 1.70e-10 | 5.64e-09 | 181 |
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 |
PLEKHH2 | insertion | Frame_Shift_Ins | novel | c.2624_2625insAATCCTCTTAATTGGCTTTAATAATATTTATCTTA | p.Ser876IlefsTer37 | p.S876Ifs*37 | Q8IVE3 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PLEKHH2 | insertion | In_Frame_Ins | novel | c.3210_3211insTTCTCAAAACTATTACTTGTATTTCAAGGAATGAGTAAATAC | p.Asn1070_Ala1071insPheSerLysLeuLeuLeuValPheGlnGlyMetSerLysTyr | p.N1070_A1071insFSKLLLVFQGMSKY | Q8IVE3 | protein_coding | | | TCGA-A2-A0ER-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PLEKHH2 | insertion | Frame_Shift_Ins | novel | c.3540_3541insAA | p.Gln1181AsnfsTer34 | p.Q1181Nfs*34 | Q8IVE3 | protein_coding | | | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PLEKHH2 | SNV | Missense_Mutation | | c.298N>A | p.Asp100Asn | p.D100N | Q8IVE3 | protein_coding | deleterious(0.03) | benign(0.136) | TCGA-C5-A1BJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PLEKHH2 | SNV | Missense_Mutation | | c.2885N>A | p.Ser962Tyr | p.S962Y | Q8IVE3 | protein_coding | deleterious(0.04) | benign(0.017) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
PLEKHH2 | SNV | Missense_Mutation | novel | c.593N>G | p.Ser198Cys | p.S198C | Q8IVE3 | protein_coding | tolerated(0.19) | benign(0.19) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PLEKHH2 | SNV | Missense_Mutation | novel | c.1434N>A | p.Met478Ile | p.M478I | Q8IVE3 | protein_coding | tolerated(0.07) | benign(0.039) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PLEKHH2 | SNV | Missense_Mutation | novel | c.1037N>T | p.Pro346Leu | p.P346L | Q8IVE3 | protein_coding | tolerated_low_confidence(0.21) | benign(0) | TCGA-VS-A9V4-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
PLEKHH2 | SNV | Missense_Mutation | | c.415A>G | p.Asn139Asp | p.N139D | Q8IVE3 | protein_coding | tolerated(0.22) | benign(0.015) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |
PLEKHH2 | SNV | Missense_Mutation | | c.3020T>C | p.Leu1007Ser | p.L1007S | Q8IVE3 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-AA-3506-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |