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
ENST00000396271 [[27484145, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529413], [27529602, 27529744]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529413], [27529602, 27529617]]
ENST00000375901 [[27484145, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27529247, 27529413], [27530987, 27531017]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520724]]
ENST00000375905 [[27484145, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529413], [27530987, 27531059]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529323]]
ENST00000375897 [[27485964, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27529247, 27529725]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27508651, 27508786], [27512266, 27512381], [27520676, 27520724]]
ENST00000375888 [[27486281, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512135, 27512168], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529487]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512135, 27512168], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529422]]
ENST00000476758 [[27493375, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27509301, 27509393], [27512135, 27512168], [27512266, 27512381], [27520676, 27520749], [27529247, 27529511]] None
ENST00000426079 [[27506908, 27507112], [27508651, 27508786], [27512135, 27512168], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529403], [27529602, 27529779]] [[27506908, 27507112], [27508651, 27508786], [27512135, 27512168], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529403], [27529602, 27529648]]
ENST00000412279 [[27506911, 27507112], [27508651, 27508786], [27512135, 27512168], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529413], [27530987, 27531019]] [[27506911, 27507112], [27508651, 27508786], [27512135, 27512168], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529323]]
NM_001271512 [[27484142, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529808]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529422]]
NM_001301252 [[27484142, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27529247, 27529808]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520724]]
NM_001301254 [[27484142, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27529247, 27529808]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27508651, 27508786], [27512266, 27512381], [27520676, 27520724]]
NM_145698 [[27484142, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529413], [27529602, 27529808]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529413], [27529602, 27529617]]
NM_001042473 [[27484142, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529413], [27530987, 27531068]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27524020, 27524141], [27529247, 27529323]]
NM_001301251 [[27484142, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27529247, 27529413], [27530987, 27531068]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520724]]
NM_001301253 [[27484142, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520749], [27529247, 27529403], [27530987, 27531068]] [[27486358, 27486371], [27493368, 27493478], [27494126, 27494177], [27497174, 27497374], [27499742, 27500010], [27504463, 27504570], [27506908, 27507112], [27508651, 27508786], [27512266, 27512381], [27520676, 27520724]]
Promoter
Chrom Start End Description
chr10 27529408 27529427 CAGE_peak_2_at_ACBD5_5end
chr10 27529437 27529461 CAGE_peak_4_at_ACBD5_5end
chr10 27529486 27529497 CAGE_peak_8_at_ACBD5_5end
chr10 27529716 27529756 CAGE_peak_1_at_ACBD5_5end
chr10 27529799 27529822 CAGE_peak_7_at_ACBD5_5end
chr10 27530997 27531065 CAGE_peak_3_at_ACBD5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I027238 27238868 27244124 2.66 [{'connected_gene': 'ACBD5', 'score': 552.07}, {'connected_gene': 'ENSG00000262412', 'score': 550.77}, {'connected_gene': 'MASTL', 'score': 59.12}, {'connected_gene': 'YME1L1', 'score': 14.03}, {'connected_gene': 'ANKRD26', 'score': 10.66}, {'connected_gene': 'ABI1', 'score': 4.32}, {'connected_gene': 'RNU7-12P', 'score': 0.44}]
chr10 GH10I027143 27143832 27143981 0.31 [{'connected_gene': 'ACBD5', 'score': 10.48}, {'connected_gene': 'MASTL', 'score': 0.39}, {'connected_gene': 'YME1L1', 'score': 0.39}, {'connected_gene': 'ANKRD26', 'score': 0.26}]
chr10 GH10I027226 27226909 27227865 0.31 [{'connected_gene': 'MASTL', 'score': 29.57}, {'connected_gene': 'GC10P027231', 'score': 0.77}, {'connected_gene': 'ACBD5', 'score': 0.39}, {'connected_gene': 'GC10P027215', 'score': 0.39}]
chr10 GH10I027225 27225171 27225691 0.4 [{'connected_gene': 'MASTL', 'score': 24.47}, {'connected_gene': 'YME1L1', 'score': 11.71}, {'connected_gene': 'GC10P027231', 'score': 0.44}, {'connected_gene': 'GC10P027215', 'score': 0.44}, {'connected_gene': 'ACBD5', 'score': 0.37}]
chr10 GH10I027227 27224012 27224161 0.54 [{'connected_gene': 'MASTL', 'score': 24.48}, {'connected_gene': 'YME1L1', 'score': 11.72}, {'connected_gene': 'GC10P027231', 'score': 0.44}, {'connected_gene': 'GC10P027215', 'score': 0.44}, {'connected_gene': 'ACBD5', 'score': 0.37}]
chr10 GH10I027234 27234035 27234754 0.79 [{'connected_gene': 'MASTL', 'score': 38.68}, {'connected_gene': 'YME1L1', 'score': 10.7}, {'connected_gene': 'FAM238B', 'score': 5.84}, {'connected_gene': 'GC10P027231', 'score': 0.77}, {'connected_gene': 'RNU7-12P', 'score': 0.77}, {'connected_gene': 'ACBD5', 'score': 0.44}]
chr10 GH10I027224 27224182 27224765 0.54 [{'connected_gene': 'MASTL', 'score': 54.83}, {'connected_gene': 'YME1L1', 'score': 11.72}, {'connected_gene': 'ANKRD26', 'score': 10.79}, {'connected_gene': 'GC10P027231', 'score': 0.44}, {'connected_gene': 'GC10P027215', 'score': 0.44}, {'connected_gene': 'ACBD5', 'score': 0.37}]
chr10 GH10I027525 27525952 27526600 0.98 [{'connected_gene': 'RAB18', 'score': 1.97}, {'connected_gene': 'ACBD5', 'score': 1.88}, {'connected_gene': 'MASTL', 'score': 1.63}, {'connected_gene': 'GC10P027522', 'score': 0.77}, {'connected_gene': 'GC10P027538', 'score': 0.39}, {'connected_gene': 'GC10P027539', 'score': 0.39}]
chr10 GH10I027319 27319078 27320761 0.97 [{'connected_gene': 'LOC101929180', 'score': 15.14}, {'connected_gene': 'MASTL', 'score': 2.52}, {'connected_gene': 'ABI1', 'score': 2.16}, {'connected_gene': 'ACBD5', 'score': 1.57}, {'connected_gene': 'RNU6-666P', 'score': 0.77}, {'connected_gene': 'GC10M027336', 'score': 0.37}, {'connected_gene': 'RNU6-452P', 'score': 0.37}, {'connected_gene': 'ARMC4P1', 'score': 0.21}]
chr10 GH10I027285 27285212 27285361 0.54 [{'connected_gene': 'ARMC4P1', 'score': 13.22}, {'connected_gene': 'ACBD5', 'score': 12.34}, {'connected_gene': 'LOC102724245', 'score': 0.34}, {'connected_gene': 'LRRC37A6P', 'score': 0.31}]
chr10 GH10I027291 27291201 27292000 0.2 [{'connected_gene': 'ARMC4P1', 'score': 13.39}, {'connected_gene': 'RNU7-12P', 'score': 12.12}, {'connected_gene': 'RNU6-452P', 'score': 12.06}, {'connected_gene': 'ACBD5', 'score': 11.45}, {'connected_gene': 'MASTL', 'score': 10.11}, {'connected_gene': 'YME1L1', 'score': 10.11}, {'connected_gene': 'LOC102724245', 'score': 0.37}, {'connected_gene': 'LRRC37A6P', 'score': 0.29}]
chr10 GH10I026778 26778756 26782951 1.43 [{'connected_gene': 'ABI1', 'score': 17.01}, {'connected_gene': 'MASTL', 'score': 7.09}, {'connected_gene': 'PDSS1', 'score': 6.66}, {'connected_gene': 'ACBD5', 'score': 2.73}, {'connected_gene': 'ENSG00000223027', 'score': 0.44}, {'connected_gene': 'GC10P026755', 'score': 0.31}, {'connected_gene': 'GC10M026780', 'score': 0.28}]
chr10 GH10I026856 26856715 26862150 2.57 [{'connected_gene': 'ABI1', 'score': 566.04}, {'connected_gene': 'MASTL', 'score': 17.91}, {'connected_gene': 'RNU6-946P', 'score': 11.7}, {'connected_gene': 'ENSG00000223027', 'score': 11.68}, {'connected_gene': 'PDSS1', 'score': 2.23}, {'connected_gene': 'ACBD5', 'score': 1.82}, {'connected_gene': 'APBB1IP', 'score': 1.18}, {'connected_gene': 'YME1L1', 'score': 1.17}, {'connected_gene': 'GC10P026852', 'score': 0.44}]
chr10 GH10I027199 27199792 27199941 0.68 [{'connected_gene': 'GC10M027179', 'score': 0.77}, {'connected_gene': 'GC10P027215', 'score': 0.37}, {'connected_gene': 'ACBD5', 'score': 0.26}]
chr10 GH10I027229 27229655 27231542 0.8 [{'connected_gene': 'GC10M027240', 'score': 550.77}, {'connected_gene': 'GC10P027231', 'score': 550.77}, {'connected_gene': 'RNU7-12P', 'score': 550.77}, {'connected_gene': 'MASTL', 'score': 29.89}, {'connected_gene': 'ACBD5', 'score': 0.39}, {'connected_gene': 'GC10P027215', 'score': 0.39}]

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