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
ENST00000431666 [[54677106, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692200], [54692286, 54692365], [54693188, 54693733]] [[54677737, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692184]]
ENST00000437868 [[54677108, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692200], [54692286, 54692365], [54693188, 54693294]] [[54687556, 54687563], [54692070, 54692200], [54692286, 54692362]]
ENST00000338624 [[54677108, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692200], [54693188, 54693419]] [[54677737, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692184]]
ENST00000245615 [[54677108, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692365], [54693188, 54693666]] [[54677737, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692362]]
ENST00000494142 [[54677112, 54678125], [54682481, 54684507]] None
ENST00000449249 [[54677767, 54678125], [54687403, 54687563], [54691042, 54691169], [54692070, 54692132]] [[54678102, 54678125], [54687403, 54687563], [54691042, 54691169], [54692070, 54692132]]
ENST00000391754 [[54682053, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692365], [54693188, 54693523]] [[54682477, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692362]]
ENST00000495279 [[54683379, 54684850], [54687403, 54687517]] [[54684419, 54684850], [54687403, 54687517]]
ENST00000414665 [[54684575, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692365], [54693041, 54693146]] [[54684575, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692362]]
ENST00000453320 [[54684832, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692365], [54693152, 54693195]] [[54684832, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692362]]
ENST00000464098 [[54684840, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692266]] None
ENST00000474910 [[54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54693188, 54693400]] None
ENST00000491216 [[54690837, 54691169], [54692070, 54692200], [54692286, 54692365], [54693188, 54693211]] None
ENST00000495968 [[54691167, 54691191], [54692070, 54692200], [54692286, 54692365], [54693188, 54693420]] None
NM_024298 [[54677105, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692365], [54693188, 54693733]] [[54677737, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692362]]
NM_001146083 [[54677105, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692200], [54692286, 54692365], [54693188, 54693733]] [[54677737, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692184]]
NM_001146056 [[54677105, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692200], [54693188, 54693733]] [[54677737, 54678125], [54682481, 54682658], [54684489, 54684850], [54687403, 54687563], [54692070, 54692184]]
NM_001146082 [[54681991, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692365], [54693188, 54693733]] [[54682477, 54682658], [54684489, 54684850], [54687403, 54687563], [54691042, 54691169], [54692070, 54692200], [54692286, 54692362]]
Promoter
Chrom Start End Description
chr19 54684630 54684697 CAGE_peak_6_at_MBOAT7_5end
chr19 54684836 54684853 CAGE_peak_11_at_MBOAT7_5end
chr19 54692194 54692234 CAGE_peak_5_at_MBOAT7_5end
chr19 54693212 54693249 CAGE_peak_2_at_MBOAT7_5end
chr19 54693250 54693261 CAGE_peak_4_at_MBOAT7_5end
chr19 54693401 54693491 CAGE_peak_1_at_MBOAT7_5end
chr19 54693521 54693539 CAGE_peak_3_at_MBOAT7_5end
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 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 GH19I054186 54186204 54193039 2.29 [{'connected_gene': 'TSEN34', 'score': 559.63}, {'connected_gene': 'MBOAT7', 'score': 550.77}, {'connected_gene': 'PRPF31', 'score': 35.67}, {'connected_gene': 'ZNF845', 'score': 21.82}, {'connected_gene': 'ZNF665', 'score': 21.48}, {'connected_gene': 'ENSG00000269001', 'score': 19.65}, {'connected_gene': 'ZNF677', 'score': 19.36}, {'connected_gene': 'LENG8', 'score': 14.85}, {'connected_gene': 'CNOT3', 'score': 14.84}, {'connected_gene': 'ENSG00000269288', 'score': 12.98}, {'connected_gene': 'ENSG00000267838', 'score': 12.35}, {'connected_gene': 'LENG8-AS1', 'score': 12.24}, {'connected_gene': 'ZNF525', 'score': 12.04}, {'connected_gene': 'ENSG00000235681', 'score': 11.99}, {'connected_gene': 'LILRB3', 'score': 11.65}, {'connected_gene': 'VN1R103P', 'score': 11.63}, {'connected_gene': 'LILRA6', 'score': 11.59}, {'connected_gene': 'ENSG00000249189', 'score': 11.58}, {'connected_gene': 'LILRB5', 'score': 11.56}, {'connected_gene': 'ZNF761', 'score': 10.51}]
chr19 GH19I054199 54199643 54211777 2.67 [{'connected_gene': 'RPS9', 'score': 576.98}, {'connected_gene': 'PRPF31', 'score': 83.39}, {'connected_gene': 'LENG8', 'score': 76.91}, {'connected_gene': 'LENG8-AS1', 'score': 70.73}, {'connected_gene': 'CNOT3', 'score': 67.81}, {'connected_gene': 'ZNF525', 'score': 63.2}, {'connected_gene': 'ZNF845', 'score': 52.51}, {'connected_gene': 'ENSG00000235681', 'score': 52.44}, {'connected_gene': 'LILRB5', 'score': 41.54}, {'connected_gene': 'ZNF765', 'score': 41.36}, {'connected_gene': 'ZNF761', 'score': 40.82}, {'connected_gene': 'TPM3P6', 'score': 32.66}, {'connected_gene': 'LILRB3', 'score': 22.38}, {'connected_gene': 'LILRA6', 'score': 22.37}, {'connected_gene': 'TPM3P9', 'score': 21.81}, {'connected_gene': 'ZNF677', 'score': 21.27}, {'connected_gene': 'LENG1', 'score': 21.09}, {'connected_gene': 'LILRA2', 'score': 19.95}, {'connected_gene': 'ENSG00000267838', 'score': 18.98}, {'connected_gene': 'MYADM', 'score': 16.9}, {'connected_gene': 'LILRA4', 'score': 15.14}, {'connected_gene': 'VSTM1', 'score': 13.45}, {'connected_gene': 'LILRA5', 'score': 12.73}, {'connected_gene': 'ENSG00000249189', 'score': 12.34}, {'connected_gene': 'TMC4', 'score': 12.22}, {'connected_gene': 'TSEN34', 'score': 12.14}, {'connected_gene': 'ZNF813', 'score': 10.04}, {'connected_gene': 'NLRP12', 'score': 9.94}, {'connected_gene': 'LOC105372457', 'score': 9.83}, {'connected_gene': 'PPP1R12C', 'score': 9.65}, {'connected_gene': 'LILRA1', 'score': 9.52}, {'connected_gene': 'MBOAT7', 'score': 9.27}, {'connected_gene': 'LILRP1', 'score': 8.68}, {'connected_gene': 'LILRB2', 'score': 8.22}, {'connected_gene': 'OSCAR', 'score': 8.08}, {'connected_gene': 'LILRB1', 'score': 6.16}, {'connected_gene': 'LAIR1', 'score': 3.17}, {'connected_gene': 'LILRB4', 'score': 2.67}, {'connected_gene': 'TARM1', 'score': 1.32}, {'connected_gene': 'ENSG00000224579', 'score': 0.77}, {'connected_gene': 'ENSG00000223660', 'score': 0.44}]
chr19 GH19I054172 54172076 54173836 1.49 [{'connected_gene': 'TMC4', 'score': 603.65}, {'connected_gene': 'LENG1', 'score': 0.39}, {'connected_gene': 'MBOAT7', 'score': 0.37}]
chr19 GH19I054178 54178624 54178773 0.76 [{'connected_gene': 'TMC4', 'score': 0.44}, {'connected_gene': 'TSEN34', 'score': 0.39}, {'connected_gene': 'MBOAT7', 'score': 0.39}]
chr19 GH19I054179 54179210 54181067 0.95 [{'connected_gene': 'TMC4', 'score': 9.36}, {'connected_gene': 'TSEN34', 'score': 0.44}, {'connected_gene': 'MBOAT7', 'score': 0.44}]
chr19 GH19I053851 53851281 53852400 1.04 [{'connected_gene': 'ENSG00000232220', 'score': 12.37}, {'connected_gene': 'PRKCG', 'score': 12.35}, {'connected_gene': 'CACNG6', 'score': 11.23}, {'connected_gene': 'MIR935', 'score': 11.23}, {'connected_gene': 'MYADM', 'score': 9.45}, {'connected_gene': 'VSTM1', 'score': 9.28}, {'connected_gene': 'LILRA5', 'score': 8.95}, {'connected_gene': 'OSCAR', 'score': 7.74}, {'connected_gene': 'NLRP12', 'score': 6.62}, {'connected_gene': 'LILRB2', 'score': 5.38}, {'connected_gene': 'LILRB3', 'score': 5.16}, {'connected_gene': 'LILRA6', 'score': 4.34}, {'connected_gene': 'ZNF331', 'score': 2.87}, {'connected_gene': 'MBOAT7', 'score': 1.45}, {'connected_gene': 'GC19P054003', 'score': 0.44}]

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