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
ENST00000369085 [[121410881, 121411367], [121429362, 121429689], [121431766, 121432168], [121435975, 121437331]] [[121411187, 121411367], [121429362, 121429689], [121431766, 121432168], [121435975, 121436794]]
ENST00000450186 [[121416121, 121416188], [121416971, 121417080], [121429362, 121429689], [121431766, 121432168], [121435978, 121436219]] [[121417074, 121417080], [121429362, 121429689], [121431766, 121432168], [121435978, 121436219]]
NM_004281 [[121410881, 121411367], [121429362, 121429689], [121431766, 121432168], [121435975, 121437331]] [[121411187, 121411367], [121429362, 121429689], [121431766, 121432168], [121435975, 121436794]]
Promoter
Chrom Start End Description
chr10 121410884 121410902 CAGE_peak_1_at_BAG3_5end
chr10 121410918 121410941 CAGE_peak_3_at_BAG3_5end
chr10 121410963 121410976 CAGE_peak_4_at_BAG3_5end
chr10 121411047 121411059 CAGE_peak_5_at_BAG3_5end
chr10 121411071 121411091 CAGE_peak_2_at_BAG3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I119663 119663065 119665050 1.17 [{'connected_gene': 'BAG3', 'score': 10.68}, {'connected_gene': 'TXNP1', 'score': 0.37}]
chr10 GH10I119674 119674847 119676712 0.51 [{'connected_gene': 'BAG3', 'score': 11.03}, {'connected_gene': 'TXNP1', 'score': 0.44}]
chr10 GH10I119661 119661051 119662265 0.31 [{'connected_gene': 'BAG3', 'score': 9.58}, {'connected_gene': 'TXNP1', 'score': 0.34}]
chr10 GH10I119675 119673349 119673498 0.51 [{'connected_gene': 'BAG3', 'score': 4.48}, {'connected_gene': 'TXNP1', 'score': 0.39}]
chr10 GH10I119673 119673799 119674616 0.31 [{'connected_gene': 'BAG3', 'score': 15.08}, {'connected_gene': 'TXNP1', 'score': 0.44}]
chr10 GH10I119686 119686036 119689798 1.43 [{'connected_gene': 'BAG3', 'score': 23.35}, {'connected_gene': 'TIAL1', 'score': 17.07}, {'connected_gene': 'SEC23IP', 'score': 16.98}, {'connected_gene': 'RPL17P36', 'score': 16.11}, {'connected_gene': 'RPL21P16', 'score': 10.47}, {'connected_gene': 'TXNP1', 'score': 8.62}, {'connected_gene': 'INPP5F', 'score': 8.18}]
chr10 GH10I119650 119650584 119660678 2.72 [{'connected_gene': 'BAG3', 'score': 568.34}, {'connected_gene': 'TIAL1', 'score': 21.86}, {'connected_gene': 'SEC23IP', 'score': 20.53}, {'connected_gene': 'INPP5F', 'score': 11.7}, {'connected_gene': 'MCMBP', 'score': 10.82}, {'connected_gene': 'GRK5', 'score': 1.18}, {'connected_gene': 'TXNP1', 'score': 0.31}]
chr10 GH10I119665 119665440 119671883 1.34 [{'connected_gene': 'BAG3', 'score': 14.94}, {'connected_gene': 'INPP5F', 'score': 7.83}, {'connected_gene': 'TXNP1', 'score': 0.37}]
chr10 GH10I119643 119643989 119644138 0.46 [{'connected_gene': 'TIAL1', 'score': 11.56}, {'connected_gene': 'BAG3', 'score': 0.44}, {'connected_gene': 'RPS8P4', 'score': 0.44}]
chr10 GH10I119642 119642649 119642798 0.51 [{'connected_gene': 'TIAL1', 'score': 11.56}, {'connected_gene': 'RPS8P4', 'score': 0.77}, {'connected_gene': 'BAG3', 'score': 0.44}]
chr10 GH10I119640 119640549 119641554 0.63 [{'connected_gene': 'TIAL1', 'score': 11.57}, {'connected_gene': 'INPP5F', 'score': 6.5}, {'connected_gene': 'RPS8P4', 'score': 0.77}, {'connected_gene': 'BAG3', 'score': 0.39}]
chr10 GH10I119703 119703518 119707638 1.35 [{'connected_gene': 'INPP5F', 'score': 550.77}, {'connected_gene': 'BAG3', 'score': 6.42}, {'connected_gene': 'GC10P119719', 'score': 0.39}]
chr10 GH10I119723 119723701 119727213 2.22 [{'connected_gene': 'INPP5F', 'score': 562.33}, {'connected_gene': 'TXNP1', 'score': 6.11}, {'connected_gene': 'BAG3', 'score': 6.01}, {'connected_gene': 'GC10P119719', 'score': 0.44}, {'connected_gene': 'GC10P119759', 'score': 0.29}]
chr10 GH10I119848 119848125 119851265 0.38 [{'connected_gene': 'INPP5F', 'score': 20.17}, {'connected_gene': 'MCMBP', 'score': 17.99}, {'connected_gene': 'SEC23IP', 'score': 10.92}, {'connected_gene': 'BAG3', 'score': 10.5}, {'connected_gene': 'EIF3A', 'score': 9.16}, {'connected_gene': 'ENSG00000222588', 'score': 9.16}, {'connected_gene': 'SNORA19', 'score': 9.16}, {'connected_gene': 'ENSG00000282413', 'score': 0.29}]
chr10 GH10I119677 119677923 119683217 1.26 [{'connected_gene': 'INPP5F', 'score': 18.97}, {'connected_gene': 'TIAL1', 'score': 17.51}, {'connected_gene': 'SEC23IP', 'score': 15.95}, {'connected_gene': 'MCMBP', 'score': 13.03}, {'connected_gene': 'RPL17P36', 'score': 10.74}, {'connected_gene': 'TXNP1', 'score': 8.67}, {'connected_gene': 'BAG3', 'score': 7.94}]
chr10 GH10I119859 119859509 119859658 0.59 [{'connected_gene': 'SEC23IP', 'score': 11.54}, {'connected_gene': 'INPP5F', 'score': 10.98}, {'connected_gene': 'BAG3', 'score': 10.37}, {'connected_gene': 'MCMBP', 'score': 0.29}, {'connected_gene': 'ENSG00000282413', 'score': 0.26}]
chr10 GH10I119618 119618469 119621164 0.84 [{'connected_gene': 'RAD1P1', 'score': 550.77}, {'connected_gene': 'GC10P119622', 'score': 550.77}, {'connected_gene': 'INPP5F', 'score': 18.57}, {'connected_gene': 'BAG3', 'score': 17.51}, {'connected_gene': 'TIAL1', 'score': 12.45}, {'connected_gene': 'GC10P119612', 'score': 0.44}]