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
ENST00000343846 [[223394160, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223537401]] [[223395533, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536767]]
ENST00000366878 [[223394162, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536802], [223537398, 223537544]] [[223395533, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536767]]
ENST00000484758 [[223394172, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402736], [223437971, 223438160], [223441843, 223442017], [223536619, 223536802], [223537398, 223537472]] [[223395533, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402736], [223437971, 223438160], [223441843, 223442017], [223536619, 223536767]]
ENST00000494793 [[223394172, 223394422], [223396608, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536802], [223537398, 223537520]] [[223394381, 223394422], [223396608, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536767]]
ENST00000478605 [[223394357, 223395562], [223396590, 223396805], [223438143, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536802], [223537398, 223537425]] None
ENST00000608996 [[223394358, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402736], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536679]] [[223395533, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402736], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536679]]
ENST00000454695 [[223395492, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223462464, 223462619], [223465780, 223465993], [223536619, 223536802], [223537398, 223537469]] [[223395533, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223441898]]
ENST00000483818 [[223395500, 223395562], [223396590, 223396807], [223441843, 223442017], [223465780, 223465993], [223536619, 223536802], [223537398, 223537425]] None
ENST00000344029 [[223408256, 223408442], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536802], [223537398, 223537509]] [[223408293, 223408442], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536767]]
ENST00000484503 [[223400944, 223401080], [223402538, 223402792]] None
ENST00000470249 [[223400956, 223401080], [223402538, 223402730], [223403879, 223404089]] None
ENST00000497669 [[223437748, 223438160], [223441843, 223442017], [223465780, 223465911]] None
ENST00000342943 [[223532166, 223532463], [223533544, 223533653], [223536619, 223536802], [223537059, 223537197]] None
ENST00000366877 [[223532399, 223532463], [223533544, 223533653], [223536619, 223536802], [223537398, 223537544]] [[223532399, 223532463], [223533544, 223533653], [223536619, 223536767]]
NM_017982 [[223394160, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536802], [223537398, 223537544]] [[223395533, 223395562], [223396590, 223396973], [223400935, 223401080], [223402538, 223402730], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536767]]
NM_001037175 [[223408251, 223408442], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536802], [223537398, 223537544]] [[223408293, 223408442], [223437971, 223438160], [223441843, 223442017], [223465780, 223465993], [223536619, 223536767]]
Promoter
Chrom Start End Description
chr1 223537283 223537286 CAGE_peak_6_at_SUSD4_5end
chr1 223537461 223537474 CAGE_peak_2_at_SUSD4_5end
chr1 223537475 223537547 CAGE_peak_1_at_SUSD4_5end
chr1 223537594 223537605 CAGE_peak_3_at_SUSD4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I223085 223085942 223090308 0.74 [{'connected_gene': 'CICP5', 'score': 11.88}, {'connected_gene': 'CICP13', 'score': 11.48}, {'connected_gene': 'ENSG00000272750', 'score': 11.43}, {'connected_gene': 'SUSD4', 'score': 4.54}, {'connected_gene': 'TLR5', 'score': 4.31}, {'connected_gene': 'LOC102724046', 'score': 0.37}, {'connected_gene': 'NDUFB1P2', 'score': 0.11}]
chr1 GH01I223232 223232606 223234560 1.16 [{'connected_gene': 'CICP13', 'score': 20.05}, {'connected_gene': 'CICP5', 'score': 18.97}, {'connected_gene': 'ENSG00000272750', 'score': 16.05}, {'connected_gene': 'TAF1A', 'score': 15.12}, {'connected_gene': 'LOC100287497', 'score': 11.49}, {'connected_gene': 'DISP1', 'score': 10.09}, {'connected_gene': 'MIA3', 'score': 9.8}, {'connected_gene': 'GC01P223191', 'score': 0.26}, {'connected_gene': 'PIR51913', 'score': 0.22}, {'connected_gene': 'SUSD4', 'score': 0.12}]
chr1 GH01I223363 223363800 223364801 1.83 [{'connected_gene': 'SUSD4', 'score': 567.04}, {'connected_gene': 'CICP5', 'score': 19.94}, {'connected_gene': 'CICP13', 'score': 19.13}, {'connected_gene': 'ENSG00000272750', 'score': 14.59}, {'connected_gene': 'NVL', 'score': 13.41}, {'connected_gene': 'LOC100287497', 'score': 12.47}, {'connected_gene': 'CAPN2', 'score': 10.94}, {'connected_gene': 'TAF1A', 'score': 10.16}, {'connected_gene': 'RNU4-57P', 'score': 0.44}]
chr1 GH01I223411 223411005 223412053 0.31 [{'connected_gene': 'SUSD4', 'score': 9.78}, {'connected_gene': 'CCDC185', 'score': 0.37}, {'connected_gene': 'LOC105373034', 'score': 0.16}]
chr1 GH01I223401 223401201 223401400 0.2 [{'connected_gene': 'SUSD4', 'score': 18.62}, {'connected_gene': 'CCDC185', 'score': 0.44}, {'connected_gene': 'LOC105373034', 'score': 0.14}]
chr1 GH01I223364 223364819 223364908 0.8 [{'connected_gene': 'SUSD4', 'score': 550.77}, {'connected_gene': 'RNU4-57P', 'score': 0.44}]
chr1 GH01I223248 223248439 223249464 0.72 [{'connected_gene': 'SUSD4', 'score': 5.49}, {'connected_gene': 'PIR51913', 'score': 0.26}, {'connected_gene': 'GC01P223191', 'score': 0.22}]
chr1 GH01I223343 223343839 223343988 0.38 [{'connected_gene': 'SUSD4', 'score': 0.34}, {'connected_gene': 'PIR51913', 'score': 0.23}]
chr1 GH01I223341 223341133 223341922 0.49 [{'connected_gene': 'SUSD4', 'score': 27.21}, {'connected_gene': 'PIR51913', 'score': 0.25}]
chr1 GH01I223340 223340704 223340788 0.38 [{'connected_gene': 'SUSD4', 'score': 0.34}, {'connected_gene': 'PIR51913', 'score': 0.25}]
chr1 GH01I223228 223228954 223232303 0.79 [{'connected_gene': 'ENSG00000236846', 'score': 11.51}, {'connected_gene': 'TLR5', 'score': 11.51}, {'connected_gene': 'GC01P223191', 'score': 0.28}, {'connected_gene': 'PIR51913', 'score': 0.21}, {'connected_gene': 'SUSD4', 'score': 0.12}]
chr1 GH01I223301 223301439 223301588 0.38 [{'connected_gene': 'PIR51913', 'score': 0.44}, {'connected_gene': 'SUSD4', 'score': 0.21}]
chr1 GH01I223250 223250319 223250608 0.66 [{'connected_gene': 'PIR51913', 'score': 0.26}, {'connected_gene': 'GC01P223191', 'score': 0.22}, {'connected_gene': 'SUSD4', 'score': 0.14}]

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