Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000301061 [[49359122, 49360336], [49361728, 49362102], [49363871, 49364134], [49364238, 49364352], [49365237, 49365546]] [[49359877, 49360336], [49361728, 49362102], [49363871, 49364134], [49364238, 49364312]]
ENST00000407467 [[49359187, 49360336], [49361728, 49361789], [49361931, 49362102], [49363871, 49364134], [49364238, 49364352], [49365237, 49365281]] [[49360329, 49360336], [49361728, 49361789], [49361931, 49362102], [49363871, 49364134], [49364238, 49364312]]
ENST00000403957 [[49359338, 49360336], [49361728, 49361789], [49361985, 49362102], [49363871, 49364134], [49364238, 49364352], [49365237, 49365501]] [[49360329, 49360336], [49361728, 49361789], [49361985, 49362102], [49363871, 49364134], [49364238, 49364312]]
ENST00000413630 [[49362078, 49362102], [49362892, 49362927], [49363871, 49364134], [49364238, 49364539]] [[49362078, 49362102], [49362892, 49362927], [49363871, 49364134], [49364238, 49364312]]
ENST00000475740 [[49363902, 49364134], [49364238, 49364435]] None
ENST00000420388 [[49363902, 49364134], [49364238, 49364352], [49364459, 49364672]] [[49363902, 49364134], [49364238, 49364312]]
NM_003394 [[49359122, 49360336], [49361728, 49362102], [49363871, 49364134], [49364238, 49364352], [49365237, 49365641]] [[49359877, 49360336], [49361728, 49362102], [49363871, 49364134], [49364238, 49364312]]
Promoter
Chrom Start End Description
chr12 49365510 49365525 CAGE_peak_2_at_WNT10B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I048917 48917297 48919211 0.58 [{'connected_gene': 'CCDC65', 'score': 14.82}, {'connected_gene': 'WNT10B', 'score': 6.92}, {'connected_gene': 'FKBP11', 'score': 0.44}, {'connected_gene': 'ENSG00000272822', 'score': 0.28}]
chr12 GH12I048965 48965050 48965751 0.56 [{'connected_gene': 'CCDC65', 'score': 14.5}, {'connected_gene': 'GC12P048969', 'score': 0.77}, {'connected_gene': 'ARF3', 'score': 0.44}, {'connected_gene': 'WNT10B', 'score': 0.44}]
chr12 GH12I048903 48903058 48904665 1.9 [{'connected_gene': 'CCDC65', 'score': 565.07}, {'connected_gene': 'RPL32P27', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 49.22}, {'connected_gene': 'KMT2D', 'score': 43.69}, {'connected_gene': 'LMBR1L', 'score': 43.38}, {'connected_gene': 'BCDIN3D', 'score': 38.92}, {'connected_gene': 'SENP1', 'score': 38.76}, {'connected_gene': 'KANSL2', 'score': 36.56}, {'connected_gene': 'LOC390314', 'score': 35.81}, {'connected_gene': 'CCNT1', 'score': 34.87}, {'connected_gene': 'PRPF40B', 'score': 31.39}, {'connected_gene': 'BCDIN3D-AS1', 'score': 24.54}, {'connected_gene': 'CCDC184', 'score': 23.54}, {'connected_gene': 'ENSG00000257964', 'score': 21.18}, {'connected_gene': 'LOC100422296', 'score': 18.54}, {'connected_gene': 'LOC101927267', 'score': 18.23}, {'connected_gene': 'FAM186B', 'score': 15.8}, {'connected_gene': 'LOC105369760', 'score': 11.81}, {'connected_gene': 'LOC102725258', 'score': 11.2}, {'connected_gene': 'RPL37P19', 'score': 11.11}, {'connected_gene': 'FKBP11', 'score': 10.5}, {'connected_gene': 'DHH', 'score': 9.79}, {'connected_gene': 'OR8T1P', 'score': 9.78}, {'connected_gene': 'WNT10B', 'score': 6.88}, {'connected_gene': 'ENSG00000272822', 'score': 0.23}]
chr12 GH12I048932 48932329 48935750 0.49 [{'connected_gene': 'WNT10B', 'score': 18.52}, {'connected_gene': 'CCDC65', 'score': 14.63}, {'connected_gene': 'ARF3', 'score': 12.01}, {'connected_gene': 'WNT1', 'score': 11.61}, {'connected_gene': 'RNU6-940P', 'score': 11.61}, {'connected_gene': 'FKBP11', 'score': 10.96}, {'connected_gene': 'GC12M048929', 'score': 0.44}, {'connected_gene': 'ENSG00000255863', 'score': 0.44}, {'connected_gene': 'ENSG00000272822', 'score': 0.34}]
chr12 GH12I048967 48967940 48972130 1.6 [{'connected_gene': 'WNT10B', 'score': 550.77}, {'connected_gene': 'GC12P048969', 'score': 550.77}, {'connected_gene': 'FKBP11', 'score': 26.33}, {'connected_gene': 'CCDC65', 'score': 10.65}]
chr12 GH12I048955 48955058 48955207 0.38 [{'connected_gene': 'WNT10B', 'score': 10.5}, {'connected_gene': 'ARF3', 'score': 0.77}, {'connected_gene': 'ENSG00000272822', 'score': 0.77}, {'connected_gene': 'ENSG00000255863', 'score': 0.37}]
chr12 GH12I048977 48977196 48982261 1.6 [{'connected_gene': 'WNT1', 'score': 550.77}, {'connected_gene': 'ARF3', 'score': 12.51}, {'connected_gene': 'FKBP11', 'score': 11.21}, {'connected_gene': 'ENSG00000255863', 'score': 10.63}, {'connected_gene': 'WNT10B', 'score': 7.27}, {'connected_gene': 'GC12P049011', 'score': 0.44}]
chr12 GH12I048926 48926595 48928468 0.31 [{'connected_gene': 'FKBP11', 'score': 550.77}, {'connected_gene': 'GC12M048929', 'score': 550.77}, {'connected_gene': 'CCDC65', 'score': 15.46}, {'connected_gene': 'WNT10B', 'score': 7.29}, {'connected_gene': 'ENSG00000255863', 'score': 0.39}, {'connected_gene': 'ENSG00000272822', 'score': 0.31}]
chr12 GH12I048881 48881825 48884565 1.33 [{'connected_gene': 'FKBP11', 'score': 23.92}, {'connected_gene': 'ARF3', 'score': 11.6}, {'connected_gene': 'ENSG00000255863', 'score': 11.27}, {'connected_gene': 'WNT10B', 'score': 6.73}, {'connected_gene': 'CCDC65', 'score': 6.62}, {'connected_gene': 'RND1', 'score': 1.48}, {'connected_gene': 'OR8S1', 'score': 1.32}, {'connected_gene': 'RNU6-600P', 'score': 0.44}, {'connected_gene': 'GC12M048893', 'score': 0.44}]
chr12 GH12I048956 48955330 48958306 2.07 [{'connected_gene': 'ARF3', 'score': 559.87}, {'connected_gene': 'ENSG00000272822', 'score': 550.77}, {'connected_gene': 'CCNT1', 'score': 36.4}, {'connected_gene': 'KANSL2', 'score': 36.12}, {'connected_gene': 'LMBR1L', 'score': 34.73}, {'connected_gene': 'LOC390314', 'score': 34.45}, {'connected_gene': 'DDX23', 'score': 28.49}, {'connected_gene': 'KMT2D', 'score': 27.87}, {'connected_gene': 'SENP1', 'score': 24.27}, {'connected_gene': 'PRPF40B', 'score': 20.2}, {'connected_gene': 'LOC101927267', 'score': 19.09}, {'connected_gene': 'CCDC65', 'score': 15.35}, {'connected_gene': 'BCDIN3D-AS1', 'score': 15.07}, {'connected_gene': 'OR5BK1P', 'score': 13.53}, {'connected_gene': 'ADCY6', 'score': 13.14}, {'connected_gene': 'CCDC184', 'score': 12.84}, {'connected_gene': 'PRPH', 'score': 12.22}, {'connected_gene': 'LOC100422296', 'score': 11.63}, {'connected_gene': 'FAIM2', 'score': 11.37}, {'connected_gene': 'DHH', 'score': 10.69}, {'connected_gene': 'FAM186B', 'score': 10.53}, {'connected_gene': 'FKBP11', 'score': 10.46}, {'connected_gene': 'ENSG00000257964', 'score': 10.03}, {'connected_gene': 'LOC105369760', 'score': 10.02}, {'connected_gene': 'OR8T1P', 'score': 9.77}, {'connected_gene': 'BCDIN3D', 'score': 9.72}, {'connected_gene': 'WNT10B', 'score': 7.06}, {'connected_gene': 'ENSG00000255863', 'score': 0.37}]
chr12 GH12I048865 48865133 48867327 2.08 [{'connected_gene': 'RND1', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 164.12}, {'connected_gene': 'KMT2D', 'score': 146.41}, {'connected_gene': 'KANSL2', 'score': 142.56}, {'connected_gene': 'LOC390314', 'score': 121.33}, {'connected_gene': 'CCNT1', 'score': 121.06}, {'connected_gene': 'LMBR1L', 'score': 113.34}, {'connected_gene': 'SENP1', 'score': 104.52}, {'connected_gene': 'BCDIN3D', 'score': 96.04}, {'connected_gene': 'PRPF40B', 'score': 89.13}, {'connected_gene': 'LOC100422296', 'score': 75.39}, {'connected_gene': 'ENSG00000257964', 'score': 69.85}, {'connected_gene': 'FAM186B', 'score': 39.25}, {'connected_gene': 'OR5BK1P', 'score': 38.63}, {'connected_gene': 'ADCY6', 'score': 37.78}, {'connected_gene': 'LOC101927267', 'score': 37.47}, {'connected_gene': 'BCDIN3D-AS1', 'score': 24.54}, {'connected_gene': 'CCDC184', 'score': 23.55}, {'connected_gene': 'LOC102725258', 'score': 21.39}, {'connected_gene': 'RPL37P19', 'score': 21.14}, {'connected_gene': 'LOC105369760', 'score': 11.8}, {'connected_gene': 'PRPH', 'score': 11.06}, {'connected_gene': 'C12orf54', 'score': 10.54}, {'connected_gene': 'DHH', 'score': 9.78}, {'connected_gene': 'ZNF641', 'score': 9.75}, {'connected_gene': 'CCDC65', 'score': 9.56}, {'connected_gene': 'WNT10B', 'score': 5.19}, {'connected_gene': 'RNU6-600P', 'score': 0.31}, {'connected_gene': 'GC12M048893', 'score': 0.31}]
chr12 GH12I048974 48974198 48974347 0.59 [{'connected_gene': 'RNU6-940P', 'score': 550.77}, {'connected_gene': 'GC12P049016', 'score': 550.77}, {'connected_gene': 'WNT10B', 'score': 0.77}]