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
ENST00000596623 [[53418448, 53418575], [53420474, 53420657], [53421111, 53421250], [53426621, 53426723]] None
ENST00000454258 [[53418449, 53418575], [53421111, 53421126]] None
NM_001310127 [[53409145, 53411432], [53418448, 53418575], [53421111, 53421184]] [[53409417, 53411432], [53418448, 53418575], [53421111, 53421126]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I053864 53864030 53873798 2.58 [{'connected_gene': 'MYADM', 'score': 565.22}, {'connected_gene': 'LOC105372457', 'score': 550.77}, {'connected_gene': 'ENSG00000269001', 'score': 23.24}, {'connected_gene': 'ZNF845', 'score': 21.85}, {'connected_gene': 'ZNF765', 'score': 19.63}, {'connected_gene': 'ZNF816', 'score': 17.82}, {'connected_gene': 'LENG8', 'score': 16.99}, {'connected_gene': 'ENSG00000235681', 'score': 16.64}, {'connected_gene': 'ZNF813', 'score': 16.37}, {'connected_gene': 'TPM3P6', 'score': 16.28}, {'connected_gene': 'ZNF160', 'score': 15.96}, {'connected_gene': 'LENG8-AS1', 'score': 15.9}, {'connected_gene': 'ZNF525', 'score': 15.07}, {'connected_gene': 'ZNF761', 'score': 14.63}, {'connected_gene': 'CNOT3', 'score': 14.15}, {'connected_gene': 'ZNF665', 'score': 13.75}, {'connected_gene': 'TPM3P9', 'score': 11.39}, {'connected_gene': 'CDC42EP5', 'score': 10.69}, {'connected_gene': 'PRPF31', 'score': 10.35}, {'connected_gene': 'LENG1', 'score': 10.14}, {'connected_gene': 'ZNF888', 'score': 9.99}, {'connected_gene': 'PRKCG', 'score': 8.58}, {'connected_gene': 'NLRP12', 'score': 3.05}, {'connected_gene': 'MBOAT7', 'score': 2.63}, {'connected_gene': 'VSTM1', 'score': 2.52}, {'connected_gene': 'LILRA5', 'score': 2.13}, {'connected_gene': 'OSCAR', 'score': 2.05}, {'connected_gene': 'TFPT', 'score': 1.7}, {'connected_gene': 'LILRA6', 'score': 1.56}, {'connected_gene': 'LILRB2', 'score': 1.53}, {'connected_gene': 'LILRB3', 'score': 1.21}, {'connected_gene': 'ENSG00000232324', 'score': 0.77}]
chr19 GH19I052137 52137975 52141288 2.28 [{'connected_gene': 'ZNF616', 'score': 585.45}, {'connected_gene': 'ZNF137P', 'score': 55.42}, {'connected_gene': 'ZNF160', 'score': 51.4}, {'connected_gene': 'ZNF808', 'score': 48.96}, {'connected_gene': 'ENSG00000268970', 'score': 44.85}, {'connected_gene': 'ZNF600', 'score': 43.55}, {'connected_gene': 'ZNF350', 'score': 40.57}, {'connected_gene': 'ZNF816', 'score': 40.28}, {'connected_gene': 'ZNF836', 'score': 39.12}, {'connected_gene': 'ZNF577', 'score': 38.22}, {'connected_gene': 'ZNF841', 'score': 37.31}, {'connected_gene': 'ZNF468', 'score': 36.86}, {'connected_gene': 'ZNF766', 'score': 36.36}, {'connected_gene': 'ZNF613', 'score': 33.56}, {'connected_gene': 'ZNF28', 'score': 31.19}, {'connected_gene': 'ENSG00000269825', 'score': 28.24}, {'connected_gene': 'ZNF175', 'score': 24.3}, {'connected_gene': 'ZNF578', 'score': 23.1}, {'connected_gene': 'ENSG00000268316', 'score': 22.87}, {'connected_gene': 'ZNF611', 'score': 20.66}, {'connected_gene': 'SIGLEC17P', 'score': 20.58}, {'connected_gene': 'ENSG00000269535', 'score': 20.37}, {'connected_gene': 'ZNF432', 'score': 12.35}, {'connected_gene': 'SPACA6P-AS', 'score': 11.38}, {'connected_gene': 'ZNF888', 'score': 9.99}, {'connected_gene': 'ZNF649', 'score': 6.35}, {'connected_gene': 'ZNF610', 'score': 2.74}, {'connected_gene': 'ZNF528', 'score': 1.29}, {'connected_gene': 'ENSG00000270248', 'score': 0.31}, {'connected_gene': 'ENSG00000267827', 'score': 0.29}]
chr19 GH19I052904 52904077 52904565 0.38 [{'connected_gene': 'ZNF320', 'score': 6.03}, {'connected_gene': 'ENSG00000269646', 'score': 0.37}, {'connected_gene': 'ZNF888', 'score': 0.37}, {'connected_gene': 'ENSG00000283088', 'score': 0.22}]
chr19 GH19I052934 52934854 52940710 1.4 [{'connected_gene': 'ZNF816', 'score': 7.74}, {'connected_gene': 'ENSG00000268225', 'score': 7.29}, {'connected_gene': 'ZNF83', 'score': 5.88}, {'connected_gene': 'ZNF321P', 'score': 0.77}, {'connected_gene': 'ZNF888', 'score': 0.39}, {'connected_gene': 'ENSG00000283088', 'score': 0.34}, {'connected_gene': 'ZNF816-ZNF321P', 'score': 0.31}]
chr19 GH19I053893 53893107 53893256 0.68 [{'connected_gene': 'ENSG00000269001', 'score': 23.23}, {'connected_gene': 'ZNF845', 'score': 21.85}, {'connected_gene': 'ZNF765', 'score': 17.86}, {'connected_gene': 'ZNF816', 'score': 17.82}, {'connected_gene': 'LENG8', 'score': 16.99}, {'connected_gene': 'ENSG00000235681', 'score': 16.64}, {'connected_gene': 'ZNF813', 'score': 16.33}, {'connected_gene': 'TPM3P6', 'score': 16.27}, {'connected_gene': 'ZNF160', 'score': 15.96}, {'connected_gene': 'LENG8-AS1', 'score': 15.9}, {'connected_gene': 'ZNF525', 'score': 15.07}, {'connected_gene': 'CNOT3', 'score': 14.62}, {'connected_gene': 'ZNF665', 'score': 13.75}, {'connected_gene': 'ZNF761', 'score': 13.17}, {'connected_gene': 'LOC105372457', 'score': 12.46}, {'connected_gene': 'MYADM', 'score': 12.44}, {'connected_gene': 'ENSG00000232324', 'score': 12.44}, {'connected_gene': 'TPM3P9', 'score': 11.39}, {'connected_gene': 'CDC42EP5', 'score': 10.69}, {'connected_gene': 'PRPF31', 'score': 10.36}, {'connected_gene': 'LENG1', 'score': 10.14}, {'connected_gene': 'ZNF888', 'score': 9.99}, {'connected_gene': 'PRKCG', 'score': 0.39}, {'connected_gene': 'CACNG7', 'score': 0.37}]
chr19 GH19I052922 52922051 52925059 1.95 [{'connected_gene': 'ENSG00000269646', 'score': 550.77}, {'connected_gene': 'ZNF888', 'score': 550.77}, {'connected_gene': 'ZNF701', 'score': 16.72}, {'connected_gene': 'ZNF600', 'score': 14.82}, {'connected_gene': 'ZNF808', 'score': 13.88}, {'connected_gene': 'ZNF845', 'score': 12.9}, {'connected_gene': 'ENSG00000268970', 'score': 12.78}, {'connected_gene': 'ENSG00000269001', 'score': 12.55}, {'connected_gene': 'ZNF816', 'score': 11.64}, {'connected_gene': 'ZNF137P', 'score': 11.39}, {'connected_gene': 'ZNF160', 'score': 11.31}, {'connected_gene': 'ZNF468', 'score': 11.29}, {'connected_gene': 'ZNF836', 'score': 11.03}, {'connected_gene': 'ZNF766', 'score': 10.91}, {'connected_gene': 'ZNF350', 'score': 10.42}, {'connected_gene': 'TPM3P6', 'score': 10.22}, {'connected_gene': 'ZNF28', 'score': 10.17}, {'connected_gene': 'ZNF525', 'score': 10.0}, {'connected_gene': 'ZNF841', 'score': 9.97}, {'connected_gene': 'ENSG00000269825', 'score': 9.91}, {'connected_gene': 'ENSG00000269535', 'score': 9.72}, {'connected_gene': 'ZNF320', 'score': 6.65}, {'connected_gene': 'ZNF578', 'score': 5.86}, {'connected_gene': 'ZNF765', 'score': 1.81}, {'connected_gene': 'ERVV-1', 'score': 1.36}, {'connected_gene': 'ZNF321P', 'score': 0.37}, {'connected_gene': 'ENSG00000283088', 'score': 0.28}]