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
ENST00000356300 [[24037243, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046833], [24047388, 24048009]] [[24038842, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046662]]
ENST00000397118 [[24037246, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046833], [24047077, 24047203], [24047388, 24047994]] [[24038842, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046662]]
ENST00000544177 [[24038623, 24038926], [24040136, 24040669], [24041010, 24041129], [24042041, 24042210]] [[24038842, 24038926], [24040136, 24040669], [24041010, 24041129], [24042041, 24042187]]
ENST00000553505 [[24044159, 24045665], [24046283, 24046833], [24047388, 24047779]] None
NM_032452 [[24037243, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046833], [24047077, 24047203], [24047388, 24048009]] [[24038842, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046662]]
NM_001146028 [[24037243, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046833], [24047388, 24048009]] [[24038842, 24038926], [24040136, 24040669], [24041010, 24041129], [24044893, 24045665], [24046283, 24046662]]
Promoter
Chrom Start End Description
chr14 24042111 24042131 CAGE_peak_17_at_JPH4_5end
chr14 24042158 24042170 CAGE_peak_18_at_JPH4_5end
chr14 24042184 24042215 CAGE_peak_15_at_JPH4_5end
chr14 24046704 24046780 CAGE_peak_8_at_JPH4_5end
chr14 24047434 24047457 CAGE_peak_3_at_JPH4_5end
chr14 24047629 24047664 CAGE_peak_2_at_JPH4_5end
chr14 24047743 24047754 CAGE_peak_12_at_JPH4_5end
chr14 24047772 24047790 CAGE_peak_6_at_JPH4_5end
chr14 24047796 24047818 CAGE_peak_10_at_JPH4_5end
chr14 24047886 24047897 CAGE_peak_14_at_JPH4_5end
chr14 24047898 24047908 CAGE_peak_9_at_JPH4_5end
chr14 24047923 24047944 CAGE_peak_4_at_JPH4_5end
chr14 24047965 24048079 CAGE_peak_1_at_JPH4_5end
chr14 24048083 24048094 CAGE_peak_13_at_JPH4_5end
chr14 24048366 24048387 CAGE_peak_5_at_JPH4_5end
chr14 24048392 24048405 CAGE_peak_7_at_JPH4_5end
chr14 24048412 24048428 CAGE_peak_11_at_JPH4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023562 23562572 23564122 0.75 [{'connected_gene': 'AP1G2', 'score': 23.94}, {'connected_gene': 'JPH4', 'score': 4.6}, {'connected_gene': 'LOC102724814', 'score': 0.77}]
chr14 GH14I023536 23536306 23540137 1.42 [{'connected_gene': 'AP1G2', 'score': 24.46}, {'connected_gene': 'THTPA', 'score': 11.78}, {'connected_gene': 'MYH6', 'score': 10.17}, {'connected_gene': 'ZFHX2', 'score': 5.62}, {'connected_gene': 'JPH4', 'score': 3.65}, {'connected_gene': 'CMTM5', 'score': 2.93}, {'connected_gene': 'SLC22A17', 'score': 2.23}, {'connected_gene': 'DHRS4L2', 'score': 1.54}, {'connected_gene': 'ENSG00000273618', 'score': 0.44}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.31}]
chr14 GH14I023566 23566485 23570161 2.27 [{'connected_gene': 'AP1G2', 'score': 570.42}, {'connected_gene': 'KHNYN', 'score': 33.65}, {'connected_gene': 'RNA5SP383', 'score': 33.57}, {'connected_gene': 'ACIN1', 'score': 29.78}, {'connected_gene': 'NGDN', 'score': 24.11}, {'connected_gene': 'TM9SF1', 'score': 22.54}, {'connected_gene': 'MMP14', 'score': 21.95}, {'connected_gene': 'TINF2', 'score': 21.08}, {'connected_gene': 'PRMT5', 'score': 20.86}, {'connected_gene': 'C14orf93', 'score': 20.61}, {'connected_gene': 'ENSG00000259321', 'score': 19.13}, {'connected_gene': 'RNF31', 'score': 14.02}, {'connected_gene': 'LOC102724814', 'score': 13.36}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'NYNRIN', 'score': 12.32}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'NFATC4', 'score': 11.87}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'SDR39U1', 'score': 10.61}, {'connected_gene': 'PSME1', 'score': 9.84}, {'connected_gene': 'JPH4', 'score': 0.39}]
chr14 GH14I023546 23546582 23546634 0.22 [{'connected_gene': 'ZFHX2', 'score': 2.94}, {'connected_gene': 'JPH4', 'score': 1.97}, {'connected_gene': 'SLC22A17', 'score': 1.31}, {'connected_gene': 'ENSG00000273618', 'score': 0.37}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.29}, {'connected_gene': 'THTPA', 'score': 0.29}]
chr14 GH14I023588 23588632 23589784 1.21 [{'connected_gene': 'ZFHX2', 'score': 11.61}, {'connected_gene': 'ZFHX2-AS1', 'score': 11.5}, {'connected_gene': 'JPH4', 'score': 0.39}, {'connected_gene': 'ENSG00000274002', 'score': 0.31}]
chr14 GH14I023581 23581212 23581341 0.67 [{'connected_gene': 'ZFHX2', 'score': 11.34}, {'connected_gene': 'ZFHX2-AS1', 'score': 11.24}, {'connected_gene': 'JPH4', 'score': 0.77}, {'connected_gene': 'ENSG00000274002', 'score': 0.28}]
chr14 GH14I023601 23601734 23603288 0.89 [{'connected_gene': 'ZFHX2', 'score': 10.68}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.6}, {'connected_gene': 'MIR208B', 'score': 9.78}, {'connected_gene': 'ENSG00000274002', 'score': 0.37}, {'connected_gene': 'JPH4', 'score': 0.34}]
chr14 GH14I022976 22976101 22983710 2.7 [{'connected_gene': 'AJUBA', 'score': 559.71}, {'connected_gene': 'ACIN1', 'score': 200.69}, {'connected_gene': 'NGDN', 'score': 160.15}, {'connected_gene': 'PRMT5', 'score': 113.21}, {'connected_gene': 'C14orf93', 'score': 102.87}, {'connected_gene': 'HAUS4', 'score': 99.95}, {'connected_gene': 'RBM23', 'score': 96.86}, {'connected_gene': 'LOC102724814', 'score': 66.99}, {'connected_gene': 'PABPN1', 'score': 57.08}, {'connected_gene': 'MMP14', 'score': 56.15}, {'connected_gene': 'SLC22A17', 'score': 39.22}, {'connected_gene': 'C14orf119', 'score': 31.52}, {'connected_gene': 'CDH24', 'score': 31.24}, {'connected_gene': 'HOMEZ', 'score': 26.97}, {'connected_gene': 'ABHD4', 'score': 19.32}, {'connected_gene': 'PSMB5', 'score': 15.09}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'ENSG00000258458', 'score': 11.41}, {'connected_gene': 'PSMB11', 'score': 11.06}, {'connected_gene': 'ZFHX2', 'score': 10.73}, {'connected_gene': 'THTPA', 'score': 10.69}, {'connected_gene': 'ENSG00000258457', 'score': 10.44}, {'connected_gene': 'PRMT5-AS1', 'score': 10.07}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.04}, {'connected_gene': 'BCL2L2', 'score': 10.02}, {'connected_gene': 'MRPL52', 'score': 4.28}, {'connected_gene': 'ENSG00000259132', 'score': 0.77}]
chr14 GH14I023579 23577392 23577541 0.38 [{'connected_gene': 'JPH4', 'score': 550.77}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023578 23577092 23577261 0.43 [{'connected_gene': 'JPH4', 'score': 550.77}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023576 23576312 23576461 0.46 [{'connected_gene': 'JPH4', 'score': 0.77}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023577 23577706 23579866 1.17 [{'connected_gene': 'JPH4', 'score': 555.48}, {'connected_gene': 'ZFHX2', 'score': 11.37}, {'connected_gene': 'ZFHX2-AS1', 'score': 11.24}, {'connected_gene': 'DHRS4-AS1', 'score': 4.96}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023608 23608392 23615122 1.15 [{'connected_gene': 'JPH4', 'score': 11.39}, {'connected_gene': 'ZFHX2', 'score': 10.8}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.73}, {'connected_gene': 'DHRS4-AS1', 'score': 4.99}, {'connected_gene': 'SDR39U1', 'score': 4.9}, {'connected_gene': 'HAUS4', 'score': 4.36}, {'connected_gene': 'ENSG00000274002', 'score': 0.44}]
chr14 GH14I023606 23606138 23606483 0.78 [{'connected_gene': 'JPH4', 'score': 11.41}, {'connected_gene': 'HAUS4', 'score': 4.38}, {'connected_gene': 'ENSG00000274002', 'score': 0.39}]
chr14 GH14I024187 24187003 24189616 1.83 [{'connected_gene': 'IPO4', 'score': 569.28}, {'connected_gene': 'NGDN', 'score': 66.93}, {'connected_gene': 'RNA5SP383', 'score': 43.21}, {'connected_gene': 'KHNYN', 'score': 41.17}, {'connected_gene': 'RNF31', 'score': 39.97}, {'connected_gene': 'NFATC4', 'score': 36.33}, {'connected_gene': 'LOC102724814', 'score': 33.71}, {'connected_gene': 'ENSG00000259321', 'score': 23.33}, {'connected_gene': 'SDR39U1', 'score': 21.94}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'NYNRIN', 'score': 20.91}, {'connected_gene': 'CIDEB', 'score': 19.83}, {'connected_gene': 'NOP9', 'score': 19.01}, {'connected_gene': 'EFS', 'score': 17.98}, {'connected_gene': 'TM9SF1', 'score': 12.94}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'TSSK4', 'score': 11.95}, {'connected_gene': 'TINF2', 'score': 11.77}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'RABGGTA', 'score': 10.18}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'DHRS4L2', 'score': 5.43}, {'connected_gene': 'EMC9', 'score': 5.16}, {'connected_gene': 'ENSG00000259522', 'score': 0.77}, {'connected_gene': 'PIR48221', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.31}]
chr14 GH14I023056 23056110 23059083 2.1 [{'connected_gene': 'CDH24', 'score': 558.74}, {'connected_gene': 'LOC105370705', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 75.23}, {'connected_gene': 'NGDN', 'score': 72.91}, {'connected_gene': 'RBM23', 'score': 33.99}, {'connected_gene': 'PRMT5', 'score': 29.91}, {'connected_gene': 'PABPN1', 'score': 22.38}, {'connected_gene': 'MMP14', 'score': 22.0}, {'connected_gene': 'SLC22A17', 'score': 21.65}, {'connected_gene': 'LOC102724814', 'score': 20.93}, {'connected_gene': 'C14orf93', 'score': 20.82}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'HAUS4', 'score': 11.94}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.87}, {'connected_gene': 'OXA1L', 'score': 10.49}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'SLC7A8', 'score': 10.23}, {'connected_gene': 'BCL2L2', 'score': 10.03}, {'connected_gene': 'HOMEZ', 'score': 9.9}, {'connected_gene': 'LRP10', 'score': 9.77}]
chr14 GH14I024364 24364968 24371044 2.27 [{'connected_gene': 'NFATC4', 'score': 550.77}, {'connected_gene': 'ADCY4', 'score': 20.94}, {'connected_gene': 'SDR39U1', 'score': 16.94}, {'connected_gene': 'RIPK3', 'score': 14.77}, {'connected_gene': 'NYNRIN', 'score': 12.77}, {'connected_gene': 'JPH4', 'score': 12.71}, {'connected_gene': 'CBLN3', 'score': 11.94}, {'connected_gene': 'KHNYN', 'score': 11.92}, {'connected_gene': 'TGM1', 'score': 10.16}, {'connected_gene': 'LTB4R', 'score': 9.68}, {'connected_gene': 'DHRS1', 'score': 8.94}]
chr14 GH14I023572 23572001 23573272 0.84 [{'connected_gene': 'KHNYN', 'score': 21.83}, {'connected_gene': 'ACIN1', 'score': 19.31}, {'connected_gene': 'RNA5SP383', 'score': 15.82}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'RNF31', 'score': 14.03}, {'connected_gene': 'LOC102724814', 'score': 13.32}, {'connected_gene': 'TINF2', 'score': 13.18}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'PRMT5', 'score': 12.26}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.18}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'AP1G2', 'score': 0.77}, {'connected_gene': 'JPH4', 'score': 0.44}]
chr14 GH14I022996 22996886 22997130 1.09 [{'connected_gene': 'ACIN1', 'score': 36.8}, {'connected_gene': 'NGDN', 'score': 26.21}, {'connected_gene': 'CDH24', 'score': 25.02}, {'connected_gene': 'SLC22A17', 'score': 21.64}, {'connected_gene': 'PABPN1', 'score': 21.18}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'RBM23', 'score': 12.04}, {'connected_gene': 'PSMB5', 'score': 11.95}, {'connected_gene': 'PSMB11', 'score': 11.92}, {'connected_gene': 'PRMT5', 'score': 10.87}, {'connected_gene': 'BCL2L2', 'score': 10.02}, {'connected_gene': 'C14orf119', 'score': 9.8}, {'connected_gene': 'CEBPE', 'score': 8.95}, {'connected_gene': 'GC14P024213', 'score': 0.39}, {'connected_gene': 'C14orf93', 'score': 0.39}, {'connected_gene': 'ENSG00000280129', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}]
chr14 GH14I023544 23544279 23546314 1.41 [{'connected_gene': 'ACIN1', 'score': 32.53}, {'connected_gene': 'KHNYN', 'score': 29.6}, {'connected_gene': 'NGDN', 'score': 27.39}, {'connected_gene': 'RNF31', 'score': 24.66}, {'connected_gene': 'RNA5SP383', 'score': 24.26}, {'connected_gene': 'PRMT5', 'score': 22.28}, {'connected_gene': 'RBM23', 'score': 20.62}, {'connected_gene': 'PRMT5-AS1', 'score': 17.6}, {'connected_gene': 'TSSK4', 'score': 14.36}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'NYNRIN', 'score': 13.33}, {'connected_gene': 'LOC102724814', 'score': 13.29}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'SLC7A8', 'score': 11.86}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'SDR39U1', 'score': 10.87}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'PABPN1', 'score': 10.42}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'NOP9', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.96}, {'connected_gene': 'IPO4', 'score': 9.77}, {'connected_gene': 'AP1G2', 'score': 9.57}, {'connected_gene': 'JPH4', 'score': 7.13}, {'connected_gene': 'ZFHX2', 'score': 5.8}, {'connected_gene': 'SLC22A17', 'score': 5.0}, {'connected_gene': 'CMTM5', 'score': 2.48}, {'connected_gene': 'DHRS4L2', 'score': 2.16}, {'connected_gene': 'BCL2L2', 'score': 1.71}, {'connected_gene': 'THTPA', 'score': 1.45}, {'connected_gene': 'ENSG00000273618', 'score': 0.39}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.29}]
chr14 GH14I023953 23953089 23955119 2.06 [{'connected_gene': 'DHRS4', 'score': 582.01}, {'connected_gene': 'ACIN1', 'score': 62.69}, {'connected_gene': 'SDR39U1', 'score': 40.64}, {'connected_gene': 'NGDN', 'score': 39.52}, {'connected_gene': 'RNA5SP383', 'score': 38.71}, {'connected_gene': 'RNF31', 'score': 36.86}, {'connected_gene': 'KHNYN', 'score': 36.84}, {'connected_gene': 'TSSK4', 'score': 36.15}, {'connected_gene': 'DHRS4-AS1', 'score': 31.17}, {'connected_gene': 'PABPN1', 'score': 30.43}, {'connected_gene': 'LOC102724814', 'score': 23.84}, {'connected_gene': 'ENSG00000259321', 'score': 21.99}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'IPO4', 'score': 18.34}, {'connected_gene': 'NOP9', 'score': 18.14}, {'connected_gene': 'C14orf93', 'score': 16.3}, {'connected_gene': 'NYNRIN', 'score': 13.35}, {'connected_gene': 'JPH4', 'score': 12.74}, {'connected_gene': 'TM9SF1', 'score': 12.57}, {'connected_gene': 'SLC7A8', 'score': 11.84}, {'connected_gene': 'CIDEB', 'score': 11.75}, {'connected_gene': 'TINF2', 'score': 11.6}, {'connected_gene': 'HAUS4', 'score': 11.58}, {'connected_gene': 'MDP1', 'score': 11.15}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.98}, {'connected_gene': 'HOMEZ', 'score': 9.86}, {'connected_gene': 'DHRS4L2', 'score': 0.37}]
chr14 GH14I024194 24194150 24197603 2.09 [{'connected_gene': 'TM9SF1', 'score': 566.24}, {'connected_gene': 'PIR45873', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.57}, {'connected_gene': 'TINF2', 'score': 25.35}, {'connected_gene': 'MDP1', 'score': 22.41}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'PSME2', 'score': 20.64}, {'connected_gene': 'KHNYN', 'score': 17.19}, {'connected_gene': 'RNA5SP383', 'score': 14.59}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'LOC102724814', 'score': 12.4}, {'connected_gene': 'CIDEB', 'score': 12.29}, {'connected_gene': 'SDR39U1', 'score': 11.85}, {'connected_gene': 'REC8', 'score': 11.71}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.47}, {'connected_gene': 'NEDD8', 'score': 11.47}, {'connected_gene': 'PABPN1', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.57}, {'connected_gene': 'ENSG00000259321', 'score': 10.47}, {'connected_gene': 'TGM1', 'score': 10.3}, {'connected_gene': 'NFATC4', 'score': 10.14}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 5.62}, {'connected_gene': 'DHRS4', 'score': 4.29}, {'connected_gene': 'ENSG00000276698', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.37}]
chr14 GH14I022927 22927991 22931223 2.34 [{'connected_gene': 'PRMT5', 'score': 577.08}, {'connected_gene': 'LOC101926933', 'score': 550.77}, {'connected_gene': 'TRR-ACG1-3', 'score': 550.77}, {'connected_gene': 'HAUS4', 'score': 62.99}, {'connected_gene': 'NGDN', 'score': 61.55}, {'connected_gene': 'ACIN1', 'score': 44.74}, {'connected_gene': 'RBM23', 'score': 24.96}, {'connected_gene': 'LOC102724814', 'score': 24.7}, {'connected_gene': 'PABPN1', 'score': 24.44}, {'connected_gene': 'SLC7A8', 'score': 22.47}, {'connected_gene': 'SLC22A17', 'score': 21.63}, {'connected_gene': 'PPP1R3E', 'score': 20.32}, {'connected_gene': 'BCL2L2', 'score': 18.83}, {'connected_gene': 'C14orf93', 'score': 16.45}, {'connected_gene': 'ENSG00000258458', 'score': 14.83}, {'connected_gene': 'AJUBA', 'score': 12.9}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'MMP14', 'score': 11.49}, {'connected_gene': 'H3F3AP2', 'score': 10.75}, {'connected_gene': 'CDH24', 'score': 10.5}, {'connected_gene': 'PRMT5-AS1', 'score': 10.25}, {'connected_gene': 'EFS', 'score': 10.1}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.03}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.0}, {'connected_gene': 'ENSG00000258457', 'score': 9.9}]
chr14 GH14I023618 23618381 23619052 0.68 [{'connected_gene': 'ENSG00000274002', 'score': 550.77}, {'connected_gene': 'JPH4', 'score': 0.28}]

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