GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190290322 | Liver | HCC | regulation of supramolecular fiber organization | 224/7958 | 383/18723 | 1.54e-10 | 5.33e-09 | 224 |
GO:000701522 | Liver | HCC | actin filament organization | 252/7958 | 442/18723 | 3.83e-10 | 1.25e-08 | 252 |
GO:001063912 | Liver | HCC | negative regulation of organelle organization | 204/7958 | 348/18723 | 7.67e-10 | 2.37e-08 | 204 |
GO:003253522 | Liver | HCC | regulation of cellular component size | 217/7958 | 383/18723 | 1.28e-08 | 3.14e-07 | 217 |
GO:003297022 | Liver | HCC | regulation of actin filament-based process | 222/7958 | 397/18723 | 3.81e-08 | 8.30e-07 | 222 |
GO:003295622 | Liver | HCC | regulation of actin cytoskeleton organization | 202/7958 | 358/18723 | 6.18e-08 | 1.29e-06 | 202 |
GO:011005322 | Liver | HCC | regulation of actin filament organization | 158/7958 | 278/18723 | 9.01e-07 | 1.37e-05 | 158 |
GO:005101722 | Liver | HCC | actin filament bundle assembly | 96/7958 | 157/18723 | 1.81e-06 | 2.52e-05 | 96 |
GO:006157222 | Liver | HCC | actin filament bundle organization | 97/7958 | 161/18723 | 4.04e-06 | 5.22e-05 | 97 |
GO:001072011 | Liver | HCC | positive regulation of cell development | 155/7958 | 298/18723 | 5.39e-04 | 3.48e-03 | 155 |
GO:001097511 | Liver | HCC | regulation of neuron projection development | 220/7958 | 445/18723 | 1.68e-03 | 8.78e-03 | 220 |
GO:190290412 | Liver | HCC | negative regulation of supramolecular fiber organization | 90/7958 | 167/18723 | 1.90e-03 | 9.69e-03 | 90 |
GO:00096124 | Liver | HCC | response to mechanical stimulus | 113/7958 | 216/18723 | 2.20e-03 | 1.10e-02 | 113 |
GO:00507674 | Liver | HCC | regulation of neurogenesis | 181/7958 | 364/18723 | 3.00e-03 | 1.40e-02 | 181 |
GO:0060999 | Liver | HCC | positive regulation of dendritic spine development | 27/7958 | 42/18723 | 3.60e-03 | 1.60e-02 | 27 |
GO:00507693 | Liver | HCC | positive regulation of neurogenesis | 116/7958 | 225/18723 | 3.67e-03 | 1.63e-02 | 116 |
GO:00083614 | Liver | HCC | regulation of cell size | 95/7958 | 181/18723 | 4.15e-03 | 1.81e-02 | 95 |
GO:003223122 | Liver | HCC | regulation of actin filament bundle assembly | 57/7958 | 105/18723 | 9.73e-03 | 3.66e-02 | 57 |
GO:006099611 | Liver | HCC | dendritic spine development | 54/7958 | 99/18723 | 1.03e-02 | 3.86e-02 | 54 |
GO:00514946 | Liver | HCC | negative regulation of cytoskeleton organization | 84/7958 | 163/18723 | 1.22e-02 | 4.43e-02 | 84 |
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 |
SHANK3 | SNV | Missense_Mutation | novel | c.1266T>G | p.Ser422Arg | p.S422R | | protein_coding | tolerated(0.61) | benign(0.162) | TCGA-A1-A0SP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
SHANK3 | SNV | Missense_Mutation | rs758053583 | c.899N>A | p.Arg300His | p.R300H | | protein_coding | deleterious(0) | possibly_damaging(0.689) | TCGA-A2-A1G0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
SHANK3 | SNV | Missense_Mutation | | c.1604N>A | p.Arg535Gln | p.R535Q | | protein_coding | tolerated(0.26) | benign(0.23) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SHANK3 | SNV | Missense_Mutation | | c.4091N>G | p.Ser1364Cys | p.S1364C | | protein_coding | deleterious(0.01) | possibly_damaging(0.571) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SHANK3 | SNV | Missense_Mutation | | c.1783N>A | p.Glu595Lys | p.E595K | | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-C8-A138-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SHANK3 | deletion | Frame_Shift_Del | novel | c.4014delG | p.Lys1339SerfsTer46 | p.K1339Sfs*46 | | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
SHANK3 | SNV | Missense_Mutation | rs770978141 | c.4382G>A | p.Arg1461His | p.R1461H | | protein_coding | deleterious(0.02) | probably_damaging(0.991) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SHANK3 | insertion | Nonsense_Mutation | novel | c.2018_2019insATGAGGAA | p.Arg674Ter | p.R674* | | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
SHANK3 | deletion | Frame_Shift_Del | novel | c.4184delN | p.His1395ProfsTer32 | p.H1395Pfs*32 | | protein_coding | | | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SHANK3 | SNV | Missense_Mutation | novel | c.4967N>A | p.Arg1656His | p.R1656H | | protein_coding | tolerated(0.12) | possibly_damaging(0.646) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |