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
ENST00000322989 [[18792616, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800440], [18801565, 18801656]] [[18794330, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800435]]
ENST00000572008 [[18793312, 18793541], [18794185, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800440], [18801631, 18801656]] [[18794330, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800435]]
ENST00000563390 [[18794277, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800440], [18801631, 18801705]] [[18794330, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800435]]
ENST00000574723 [[18794283, 18794424], [18796059, 18796145], [18800302, 18800440], [18801631, 18801684]] [[18796119, 18796145], [18800302, 18800435]]
ENST00000575669 [[18794289, 18798117]] None
ENST00000576436 [[18794289, 18796145], [18797561, 18797658], [18799384, 18799464], [18800302, 18800459]] [[18796119, 18796145], [18797561, 18797658], [18799384, 18799464], [18800302, 18800435]]
ENST00000562935 [[18794289, 18794424], [18796059, 18796145], [18799384, 18799427], [18800302, 18800440], [18801631, 18801656]] [[18799407, 18799427], [18800302, 18800435]]
ENST00000569365 [[18794289, 18794424], [18796059, 18796145], [18799384, 18799481], [18800302, 18800440], [18801631, 18801656]] [[18799464, 18799481], [18800302, 18800435]]
ENST00000576008 [[18794289, 18794424], [18796059, 18796145], [18797561, 18797658], [18799384, 18799464], [18800302, 18800440], [18801631, 18801684]] [[18796119, 18796145], [18797561, 18797658], [18799384, 18799464], [18800302, 18800435]]
ENST00000565420 [[18794290, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800440], [18801218, 18801582]] [[18794330, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800435]]
ENST00000563579 [[18794302, 18794424], [18794962, 18795036], [18796059, 18796147]] [[18794410, 18794424], [18794962, 18795036], [18796059, 18796147]]
ENST00000569083 [[18795342, 18796145], [18799384, 18799464], [18800302, 18800441]] [[18796055, 18796145], [18799384, 18799464], [18800302, 18800435]]
ENST00000573554 [[18799865, 18800440], [18801631, 18801662]] None
NM_001019 [[18794276, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800440], [18801565, 18801656]] [[18794330, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800435]]
NM_001030009 [[18794276, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800440], [18801631, 18801656]] [[18794330, 18794424], [18796059, 18796145], [18799384, 18799464], [18800302, 18800435]]
Promoter
Chrom Start End Description
chr16 18801619 18801630 CAGE_peak_2_at_RPS15A_5end
chr16 18801643 18801662 CAGE_peak_1_at_RPS15A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I018961 18961610 18963188 0.43 [{'connected_gene': 'RPS15A', 'score': 4.94}, {'connected_gene': 'TMC7', 'score': 0.34}, {'connected_gene': 'ENSG00000260352', 'score': 0.28}]
chr16 GH16I018958 18958896 18960195 0.84 [{'connected_gene': 'RPS15A', 'score': 4.81}, {'connected_gene': 'TMC7', 'score': 0.34}, {'connected_gene': 'ENSG00000260352', 'score': 0.29}]
chr16 GH16I019679 19679649 19682807 0.72 [{'connected_gene': 'RPS15A', 'score': 21.16}, {'connected_gene': 'C16orf62', 'score': 16.57}, {'connected_gene': 'KNOP1', 'score': 13.74}, {'connected_gene': 'IQCK', 'score': 10.3}, {'connected_gene': 'CCP110', 'score': 10.22}, {'connected_gene': 'SYT17', 'score': 4.17}, {'connected_gene': 'GC16M019688', 'score': 0.44}, {'connected_gene': 'GC16M019687', 'score': 0.44}]
chr16 GH16I018786 18786475 18791478 2.51 [{'connected_gene': 'RPS15A', 'score': 563.31}, {'connected_gene': 'ARL6IP1', 'score': 13.67}, {'connected_gene': 'CCP110', 'score': 12.66}, {'connected_gene': 'COQ7', 'score': 9.72}, {'connected_gene': 'ENSG00000205746', 'score': 4.97}, {'connected_gene': 'GC16M018782', 'score': 0.77}, {'connected_gene': 'ENSG00000260342', 'score': 0.39}]
chr16 GH16I019091 19091587 19093326 1.19 [{'connected_gene': 'RPS15A', 'score': 13.61}, {'connected_gene': 'COQ7', 'score': 6.92}, {'connected_gene': 'ENSG00000260430', 'score': 0.44}, {'connected_gene': 'GC16P019109', 'score': 0.37}]
chr16 GH16I019554 19554337 19556914 2.09 [{'connected_gene': 'C16orf62', 'score': 560.92}, {'connected_gene': 'RPS15A', 'score': 22.6}, {'connected_gene': 'CCP110', 'score': 19.09}, {'connected_gene': 'COQ7', 'score': 10.09}, {'connected_gene': 'TMC5', 'score': 7.67}, {'connected_gene': 'KNOP1', 'score': 6.91}, {'connected_gene': 'GDE1', 'score': 5.0}, {'connected_gene': 'GC16M019688', 'score': 0.12}, {'connected_gene': 'GC16M019687', 'score': 0.12}]
chr16 GH16I019715 19715699 19719658 2.26 [{'connected_gene': 'KNOP1', 'score': 593.97}, {'connected_gene': 'IQCK', 'score': 555.93}, {'connected_gene': 'RPS15A', 'score': 13.58}]
chr16 GH16I018818 18818940 18820280 0.2 [{'connected_gene': 'ARL6IP1', 'score': 14.38}, {'connected_gene': 'RPS15A', 'score': 12.05}, {'connected_gene': 'COQ7', 'score': 10.03}, {'connected_gene': 'GC16M018804', 'score': 0.39}, {'connected_gene': 'LOC100996247', 'score': 0.22}, {'connected_gene': 'SMG1', 'score': 0.14}]
chr16 GH16I018780 18780124 18782389 0.43 [{'connected_gene': 'ARL6IP1', 'score': 9.19}, {'connected_gene': 'ENSG00000205746', 'score': 4.94}, {'connected_gene': 'RPS15A', 'score': 0.44}, {'connected_gene': 'GC16M018782', 'score': 0.44}, {'connected_gene': 'PIR49143', 'score': 0.12}]
chr16 GH16I018784 18783844 18784289 0.69 [{'connected_gene': 'ARL6IP1', 'score': 13.28}, {'connected_gene': 'GC16M018782', 'score': 0.77}, {'connected_gene': 'RPS15A', 'score': 0.44}, {'connected_gene': 'PIR49143', 'score': 0.11}]
chr16 GH16I019005 19005202 19006873 1.16 [{'connected_gene': 'COQ7', 'score': 14.43}, {'connected_gene': 'RPS15A', 'score': 10.65}, {'connected_gene': 'TMC7', 'score': 8.1}, {'connected_gene': 'GC16P019012', 'score': 0.44}]
chr16 GH16I018793 18793179 18793328 0.46 [{'connected_gene': 'COQ7', 'score': 9.34}, {'connected_gene': 'RPS15A', 'score': 0.77}, {'connected_gene': 'ENSG00000260342', 'score': 0.44}, {'connected_gene': 'ARL6IP1', 'score': 0.44}]
chr16 GH16I018796 18796539 18796688 0.31 [{'connected_gene': 'ENSG00000260342', 'score': 0.77}, {'connected_gene': 'RPS15A', 'score': 0.44}, {'connected_gene': 'ARL6IP1', 'score': 0.44}]
chr16 GH16I018783 18783119 18783268 0.43 [{'connected_gene': 'GC16M018782', 'score': 0.77}, {'connected_gene': 'RPS15A', 'score': 0.44}, {'connected_gene': 'PIR49143', 'score': 0.11}]
chr16 GH16I018785 18785619 18785768 0.58 [{'connected_gene': 'GC16M018782', 'score': 550.77}, {'connected_gene': 'RPS15A', 'score': 0.77}, {'connected_gene': 'PIR49143', 'score': 0.11}]
chr16 GH16I019487 19487201 19489422 1.15 [{'connected_gene': 'ENSG00000260592', 'score': 550.77}, {'connected_gene': 'COQ7', 'score': 20.4}, {'connected_gene': 'SMG1', 'score': 13.02}, {'connected_gene': 'RPS15A', 'score': 10.59}, {'connected_gene': 'SYT17', 'score': 10.4}, {'connected_gene': 'KNOP1', 'score': 7.69}, {'connected_gene': 'CCP110', 'score': 6.76}, {'connected_gene': 'TMC5', 'score': 5.64}, {'connected_gene': 'GDE1', 'score': 4.61}, {'connected_gene': 'GC16P019498', 'score': 0.39}]