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
ENST00000270458 [[54466293, 54466679], [54481399, 54481483], [54483120, 54483261], [54485333, 54493469]] [[54466396, 54466679], [54481399, 54481483], [54483120, 54483261], [54485333, 54486103]]
NM_031895 [[54466289, 54466679], [54481399, 54481483], [54483120, 54483261], [54485333, 54493469]] [[54466396, 54466679], [54481399, 54481483], [54483120, 54483261], [54485333, 54486103]]
Promoter
Chrom Start End Description
chr19 54466179 54466202 CAGE_peak_1_at_CACNG8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I053956 53956635 53960676 0.89 [{'connected_gene': 'ZNF347', 'score': 19.22}, {'connected_gene': 'PRPF31', 'score': 16.71}, {'connected_gene': 'LENG8-AS1', 'score': 13.33}, {'connected_gene': 'LENG8', 'score': 13.14}, {'connected_gene': 'ZNF665', 'score': 12.64}, {'connected_gene': 'MIR935', 'score': 12.53}, {'connected_gene': 'CACNG6', 'score': 12.48}, {'connected_gene': 'ZNF525', 'score': 12.19}, {'connected_gene': 'ZNF160', 'score': 11.75}, {'connected_gene': 'ZNF677', 'score': 11.26}, {'connected_gene': 'ZNF702P', 'score': 11.23}, {'connected_gene': 'ZNF761', 'score': 10.91}, {'connected_gene': 'ENSG00000235681', 'score': 10.8}, {'connected_gene': 'ENSG00000267838', 'score': 10.23}, {'connected_gene': 'CACNG8', 'score': 7.6}, {'connected_gene': 'PIR36356', 'score': 0.28}]
chr19 GH19I054018 54017723 54024511 1.42 [{'connected_gene': 'LILRB3', 'score': 15.41}, {'connected_gene': 'ENSG00000269288', 'score': 12.99}, {'connected_gene': 'ZNF415', 'score': 12.74}, {'connected_gene': 'VSTM1', 'score': 12.18}, {'connected_gene': 'LILRA5', 'score': 11.74}, {'connected_gene': 'OSCAR', 'score': 11.72}, {'connected_gene': 'VN1R103P', 'score': 11.64}, {'connected_gene': 'MYADM', 'score': 11.07}, {'connected_gene': 'LILRB2', 'score': 10.86}, {'connected_gene': 'NLRP12', 'score': 10.34}, {'connected_gene': 'LAIR1', 'score': 8.92}, {'connected_gene': 'CACNG8', 'score': 8.78}, {'connected_gene': 'LILRA6', 'score': 3.55}, {'connected_gene': 'MBOAT7', 'score': 1.92}, {'connected_gene': 'LAIR2', 'score': 1.8}, {'connected_gene': 'ZNF331', 'score': 1.77}, {'connected_gene': 'LENG8', 'score': 1.58}, {'connected_gene': 'RPS9', 'score': 1.4}, {'connected_gene': 'TARM1', 'score': 1.29}, {'connected_gene': 'ENSG00000276206', 'score': 0.39}, {'connected_gene': 'CACNG6', 'score': 0.31}]
chr19 GH19I053989 53989307 53992616 1.43 [{'connected_gene': 'CACNG6', 'score': 580.26}, {'connected_gene': 'CACNG8', 'score': 15.92}, {'connected_gene': 'GC19P053989', 'score': 0.77}]
chr19 GH19I053907 53907984 53910590 1.28 [{'connected_gene': 'CACNG7', 'score': 560.47}, {'connected_gene': 'PRKCG', 'score': 18.8}, {'connected_gene': 'ENSG00000232220', 'score': 12.51}, {'connected_gene': 'LOC105372457', 'score': 12.5}, {'connected_gene': 'MYADM', 'score': 6.77}, {'connected_gene': 'CACNG8', 'score': 3.42}]
chr19 GH19I053961 53961989 53962240 1.11 [{'connected_gene': 'CACNG8', 'score': 555.12}, {'connected_gene': 'ZNF347', 'score': 13.4}, {'connected_gene': 'ZNF702P', 'score': 10.89}, {'connected_gene': 'ENSG00000267838', 'score': 10.32}, {'connected_gene': 'ZNF665', 'score': 10.29}, {'connected_gene': 'TFPT', 'score': 3.36}, {'connected_gene': 'NDUFA3', 'score': 1.74}, {'connected_gene': 'CACNG7', 'score': 1.44}, {'connected_gene': 'MYADM', 'score': 1.31}, {'connected_gene': 'PRPF31', 'score': 1.21}, {'connected_gene': 'PIR36356', 'score': 0.26}]
chr19 GH19I054007 54007698 54009685 0.85 [{'connected_gene': 'CACNG8', 'score': 9.34}, {'connected_gene': 'CACNG6', 'score': 6.84}, {'connected_gene': 'ENSG00000276206', 'score': 0.34}]
chr19 GH19I054011 54011601 54011800 0.63 [{'connected_gene': 'CACNG8', 'score': 10.93}, {'connected_gene': 'ENSG00000276206', 'score': 0.37}, {'connected_gene': 'CACNG6', 'score': 0.34}]
chr19 GH19I053942 53942267 53942636 0.56 [{'connected_gene': 'CACNG8', 'score': 12.42}, {'connected_gene': 'LOC105372457', 'score': 11.76}, {'connected_gene': 'PRKCG', 'score': 11.07}, {'connected_gene': 'ENSG00000232220', 'score': 11.07}, {'connected_gene': 'PIR36356', 'score': 0.34}, {'connected_gene': 'CACNG7', 'score': 0.29}]
chr19 GH19I053971 53971601 53972200 0.46 [{'connected_gene': 'CACNG8', 'score': 0.44}, {'connected_gene': 'MIR935', 'score': 0.39}]
chr19 GH19I053962 53962876 53963625 0.81 [{'connected_gene': 'CACNG8', 'score': 550.77}, {'connected_gene': 'MIR935', 'score': 0.37}]
chr19 GH19I053960 53960967 53961116 0.31 [{'connected_gene': 'CACNG8', 'score': 550.77}, {'connected_gene': 'PIR36356', 'score': 0.26}]
chr19 GH19I053977 53977087 53982836 1.72 [{'connected_gene': 'PRPF31', 'score': 51.05}, {'connected_gene': 'ZNF525', 'score': 43.88}, {'connected_gene': 'LENG8-AS1', 'score': 43.78}, {'connected_gene': 'ZNF160', 'score': 42.25}, {'connected_gene': 'ZNF845', 'score': 40.66}, {'connected_gene': 'ZNF665', 'score': 39.88}, {'connected_gene': 'ZNF761', 'score': 38.89}, {'connected_gene': 'ZNF347', 'score': 37.55}, {'connected_gene': 'LENG8', 'score': 36.05}, {'connected_gene': 'ENSG00000235681', 'score': 31.21}, {'connected_gene': 'CNOT3', 'score': 26.13}, {'connected_gene': 'ENSG00000269001', 'score': 23.45}, {'connected_gene': 'ENSG00000267838', 'score': 20.88}, {'connected_gene': 'CACNG8', 'score': 18.5}, {'connected_gene': 'TPM3P9', 'score': 13.34}, {'connected_gene': 'TPM3P6', 'score': 12.46}, {'connected_gene': 'ZNF765', 'score': 11.11}, {'connected_gene': 'ZNF677', 'score': 11.09}, {'connected_gene': 'ZNF702P', 'score': 10.89}, {'connected_gene': 'ENSG00000269288', 'score': 10.15}, {'connected_gene': 'ENSG00000269873', 'score': 9.88}, {'connected_gene': 'CACNG6', 'score': 6.91}, {'connected_gene': 'MIR935', 'score': 0.77}]
chr19 GH19I053943 53942896 53943616 0.43 [{'connected_gene': 'LOC105372457', 'score': 11.76}, {'connected_gene': 'PRKCG', 'score': 11.07}, {'connected_gene': 'ENSG00000232220', 'score': 11.07}, {'connected_gene': 'CACNG8', 'score': 0.37}, {'connected_gene': 'PIR36356', 'score': 0.34}, {'connected_gene': 'CACNG7', 'score': 0.29}]
chr19 GH19I053945 53945483 53945883 0.66 [{'connected_gene': 'MIR935', 'score': 12.35}, {'connected_gene': 'CACNG6', 'score': 12.32}, {'connected_gene': 'PRKCG', 'score': 11.82}, {'connected_gene': 'ENSG00000232220', 'score': 11.82}, {'connected_gene': 'LOC105372457', 'score': 11.8}, {'connected_gene': 'ENSG00000269873', 'score': 9.88}, {'connected_gene': 'RNU6-698P', 'score': 9.82}, {'connected_gene': 'CACNG8', 'score': 0.37}, {'connected_gene': 'PIR36356', 'score': 0.31}]
chr19 GH19I053947 53947767 53947916 0.46 [{'connected_gene': 'MIR935', 'score': 12.36}, {'connected_gene': 'CACNG6', 'score': 12.33}, {'connected_gene': 'PRKCG', 'score': 11.82}, {'connected_gene': 'ENSG00000232220', 'score': 11.81}, {'connected_gene': 'LOC105372457', 'score': 11.8}, {'connected_gene': 'RNU6-698P', 'score': 9.82}, {'connected_gene': 'CACNG8', 'score': 0.37}, {'connected_gene': 'PIR36356', 'score': 0.31}]
chr19 GH19I053930 53930071 53930166 0.23 [{'connected_gene': 'MIR935', 'score': 11.58}, {'connected_gene': 'CACNG6', 'score': 11.55}, {'connected_gene': 'LOC105372457', 'score': 11.39}, {'connected_gene': 'ENSG00000232220', 'score': 10.99}, {'connected_gene': 'PRKCG', 'score': 10.99}, {'connected_gene': 'RNU6-1041P', 'score': 10.28}, {'connected_gene': 'MIR516A2', 'score': 10.28}, {'connected_gene': 'MIR519A1', 'score': 10.28}, {'connected_gene': 'MIR527', 'score': 10.28}, {'connected_gene': 'MIR1283-2', 'score': 10.28}, {'connected_gene': 'MIR516A1', 'score': 10.28}, {'connected_gene': 'RNU6-751P', 'score': 10.27}, {'connected_gene': 'MIR521-1', 'score': 10.27}, {'connected_gene': 'MIR517C', 'score': 10.27}, {'connected_gene': 'MIR520H', 'score': 10.27}, {'connected_gene': 'RNU6-982P', 'score': 10.27}, {'connected_gene': 'MIR518A2', 'score': 10.27}, {'connected_gene': 'MIR516B1', 'score': 10.27}, {'connected_gene': 'RNU6-980P', 'score': 10.27}, {'connected_gene': 'MIR518A1', 'score': 10.27}, {'connected_gene': 'MIR518E', 'score': 10.27}, {'connected_gene': 'MIR516B2', 'score': 10.27}, {'connected_gene': 'MIR526A2', 'score': 10.27}, {'connected_gene': 'MIR520G', 'score': 10.26}, {'connected_gene': 'MIR517B', 'score': 10.26}, {'connected_gene': 'MIR519D', 'score': 10.26}, {'connected_gene': 'MIR517A', 'score': 10.26}, {'connected_gene': 'MIR521-2', 'score': 10.26}, {'connected_gene': 'RNU6-803P', 'score': 10.26}, {'connected_gene': 'MIR520D', 'score': 10.26}, {'connected_gene': 'MIR518B', 'score': 10.26}, {'connected_gene': 'MIR520B', 'score': 10.26}, {'connected_gene': 'MIR526A1', 'score': 10.26}, {'connected_gene': 'MIR520C', 'score': 10.26}, {'connected_gene': 'MIR519B', 'score': 10.26}, {'connected_gene': 'MIR525', 'score': 10.26}, {'connected_gene': 'MIR518F', 'score': 10.26}, {'connected_gene': 'MIR520A', 'score': 10.25}, {'connected_gene': 'MIR526B', 'score': 10.25}, {'connected_gene': 'CACNG7', 'score': 2.07}, {'connected_gene': 'DPRX', 'score': 1.63}, {'connected_gene': 'ZNF813', 'score': 1.27}, {'connected_gene': 'TARM1', 'score': 1.24}, {'connected_gene': 'PIR36356', 'score': 0.39}, {'connected_gene': 'CACNG8', 'score': 0.29}]
chr19 GH19I053927 53927847 53928016 0.72 [{'connected_gene': 'MIR935', 'score': 11.58}, {'connected_gene': 'CACNG6', 'score': 11.55}, {'connected_gene': 'LOC105372457', 'score': 11.41}, {'connected_gene': 'PRKCG', 'score': 11.01}, {'connected_gene': 'ENSG00000232220', 'score': 10.99}, {'connected_gene': 'RNU6-1041P', 'score': 10.28}, {'connected_gene': 'MIR1283-2', 'score': 10.28}, {'connected_gene': 'MIR516A2', 'score': 10.28}, {'connected_gene': 'RNU6-751P', 'score': 10.28}, {'connected_gene': 'MIR519A1', 'score': 10.28}, {'connected_gene': 'MIR521-1', 'score': 10.28}, {'connected_gene': 'MIR516A1', 'score': 10.28}, {'connected_gene': 'MIR527', 'score': 10.28}, {'connected_gene': 'RNU6-982P', 'score': 10.27}, {'connected_gene': 'MIR518A2', 'score': 10.27}, {'connected_gene': 'MIR517C', 'score': 10.27}, {'connected_gene': 'MIR520H', 'score': 10.27}, {'connected_gene': 'RNU6-980P', 'score': 10.27}, {'connected_gene': 'MIR516B1', 'score': 10.27}, {'connected_gene': 'MIR518E', 'score': 10.27}, {'connected_gene': 'MIR518A1', 'score': 10.27}, {'connected_gene': 'MIR516B2', 'score': 10.27}, {'connected_gene': 'MIR526A2', 'score': 10.27}, {'connected_gene': 'MIR520G', 'score': 10.26}, {'connected_gene': 'MIR517B', 'score': 10.26}, {'connected_gene': 'RNU6-803P', 'score': 10.26}, {'connected_gene': 'MIR520D', 'score': 10.26}, {'connected_gene': 'MIR517A', 'score': 10.26}, {'connected_gene': 'MIR519D', 'score': 10.26}, {'connected_gene': 'MIR521-2', 'score': 10.26}, {'connected_gene': 'MIR518B', 'score': 10.26}, {'connected_gene': 'MIR520B', 'score': 10.26}, {'connected_gene': 'MIR518F', 'score': 10.26}, {'connected_gene': 'MIR526A1', 'score': 10.26}, {'connected_gene': 'MIR520C', 'score': 10.26}, {'connected_gene': 'MIR519B', 'score': 10.26}, {'connected_gene': 'MIR526B', 'score': 10.26}, {'connected_gene': 'MIR525', 'score': 10.26}, {'connected_gene': 'MIR520A', 'score': 10.25}, {'connected_gene': 'PIR36356', 'score': 0.44}, {'connected_gene': 'CACNG7', 'score': 0.37}, {'connected_gene': 'CACNG8', 'score': 0.28}]

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