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
ENST00000300035 [[64657192, 64658274], [64668941, 64669104], [64673156, 64673237], [64673524, 64673709]] [[64658228, 64658274], [64668941, 64669104], [64673156, 64673237], [64673524, 64673570]]
ENST00000380258 [[64657563, 64658274], [64673156, 64673237], [64673524, 64673643]] [[64658203, 64658274], [64673156, 64673237], [64673524, 64673570]]
ENST00000559519 [[64657804, 64658274], [64668941, 64669104], [64673524, 64673640]] [[64658228, 64658274], [64668941, 64669104], [64673524, 64673570]]
ENST00000558008 [[64657932, 64658274], [64665896, 64665963], [64668941, 64669104], [64673156, 64673237], [64673524, 64673637]] [[64665905, 64665963], [64668941, 64669104], [64673156, 64673237], [64673524, 64673570]]
ENST00000558043 [[64657946, 64658274], [64668941, 64669104], [64673156, 64673354]] None
ENST00000560234 [[64658066, 64658274], [64668941, 64669104], [64673156, 64673237], [64679645, 64679883]] None
ENST00000559280 [[64658142, 64658274], [64665354, 64665970]] None
ENST00000558250 [[64674623, 64675189], [64679645, 64679886]] None
NM_014736 [[64657192, 64658274], [64668941, 64669104], [64673156, 64673237], [64673524, 64673709]] [[64658228, 64658274], [64668941, 64669104], [64673156, 64673237], [64673524, 64673570]]
NM_001029989 [[64657192, 64658274], [64673156, 64673237], [64673524, 64673709]] [[64658203, 64658274], [64673156, 64673237], [64673524, 64673570]]
NR_109934 [[64657192, 64658274], [64668941, 64669104], [64673156, 64673237], [64679645, 64679886]] None
Promoter
Chrom Start End Description
chr15 64673206 64673210 CAGE_peak_5_at_KIAA0101_5end
chr15 64673630 64673648 CAGE_peak_1_at_KIAA0101_5end
chr15 64673665 64673676 CAGE_peak_2_at_KIAA0101_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I064386 64386859 64389081 2.15 [{'connected_gene': 'TRIP4', 'score': 597.04}, {'connected_gene': 'PCLAF', 'score': 550.77}, {'connected_gene': 'PARP16', 'score': 40.85}, {'connected_gene': 'CSNK1G1', 'score': 21.28}, {'connected_gene': 'ZNF609', 'score': 20.43}, {'connected_gene': 'USP3', 'score': 19.86}, {'connected_gene': 'SNX1', 'score': 13.79}, {'connected_gene': 'UBAP1L', 'score': 12.19}, {'connected_gene': 'ENSG00000265967', 'score': 10.62}, {'connected_gene': 'CILP', 'score': 9.76}, {'connected_gene': 'ENSG00000264937', 'score': 9.73}, {'connected_gene': 'GC15M064400', 'score': 0.39}, {'connected_gene': 'GC15P069502', 'score': 0.29}, {'connected_gene': 'GC15P069473', 'score': 0.29}, {'connected_gene': 'GC15P069478', 'score': 0.29}, {'connected_gene': 'GC15P069472', 'score': 0.29}, {'connected_gene': 'GC15P069477', 'score': 0.29}]
chr15 GH15I064621 64621514 64625526 1.19 [{'connected_gene': 'TRIP4', 'score': 35.28}, {'connected_gene': 'RBPMS2', 'score': 26.66}, {'connected_gene': 'PCLAF', 'score': 5.17}, {'connected_gene': 'SNX1', 'score': 3.92}, {'connected_gene': 'RPL21P15', 'score': 0.44}, {'connected_gene': 'LOC101930091', 'score': 0.39}, {'connected_gene': 'RPS26P50', 'score': 0.29}, {'connected_gene': 'ZNF609', 'score': 0.1}]
chr15 GH15I064354 64354573 64357467 2.03 [{'connected_gene': 'CSNK1G1', 'score': 566.87}, {'connected_gene': 'GC15P069473', 'score': 550.77}, {'connected_gene': 'TRIP4', 'score': 36.44}, {'connected_gene': 'PCLAF', 'score': 12.77}, {'connected_gene': 'ENSG00000259635', 'score': 11.89}, {'connected_gene': 'ZNF609', 'score': 10.25}, {'connected_gene': 'GC15P069502', 'score': 0.77}, {'connected_gene': 'GC15P069478', 'score': 0.77}, {'connected_gene': 'GC15P069472', 'score': 0.77}, {'connected_gene': 'GC15P069477', 'score': 0.77}, {'connected_gene': 'ENSG00000259316', 'score': 0.31}]
chr15 GH15I064378 64378082 64382404 2.01 [{'connected_gene': 'ENSG00000259316', 'score': 550.77}, {'connected_gene': 'PCLAF', 'score': 550.44}, {'connected_gene': 'TRIP4', 'score': 49.43}, {'connected_gene': 'PARP16', 'score': 23.17}, {'connected_gene': 'CSNK1G1', 'score': 21.58}, {'connected_gene': 'ZNF609', 'score': 18.61}, {'connected_gene': 'ENSG00000259635', 'score': 11.89}, {'connected_gene': 'USP3', 'score': 10.99}, {'connected_gene': 'ENSG00000264937', 'score': 10.84}, {'connected_gene': 'SPG21', 'score': 10.19}, {'connected_gene': 'MTFMT', 'score': 9.95}, {'connected_gene': 'USP3-AS1', 'score': 9.69}, {'connected_gene': 'GC15P069502', 'score': 0.31}, {'connected_gene': 'GC15P069473', 'score': 0.31}, {'connected_gene': 'GC15P069477', 'score': 0.31}, {'connected_gene': 'GC15P069478', 'score': 0.31}, {'connected_gene': 'GC15P069472', 'score': 0.31}]
chr15 GH15I064369 64369222 64369371 0.46 [{'connected_gene': 'ENSG00000252774', 'score': 11.1}, {'connected_gene': 'SNX22', 'score': 9.89}, {'connected_gene': 'RBPMS2', 'score': 9.26}, {'connected_gene': 'ENSG00000259316', 'score': 0.39}, {'connected_gene': 'CSNK1G1', 'score': 0.39}, {'connected_gene': 'GC15P069502', 'score': 0.37}, {'connected_gene': 'GC15P069473', 'score': 0.37}, {'connected_gene': 'GC15P069478', 'score': 0.37}, {'connected_gene': 'GC15P069472', 'score': 0.37}, {'connected_gene': 'GC15P069477', 'score': 0.37}, {'connected_gene': 'PCLAF', 'score': 0.37}]
chr15 GH15I064362 64362408 64362702 0.25 [{'connected_gene': 'ENSG00000252774', 'score': 11.54}, {'connected_gene': 'SNX22', 'score': 10.12}, {'connected_gene': 'RNU6-549P', 'score': 9.92}, {'connected_gene': 'RBPMS2', 'score': 9.5}, {'connected_gene': 'PCLAF', 'score': 4.32}, {'connected_gene': 'PIF1', 'score': 2.23}, {'connected_gene': 'GC15P069502', 'score': 0.44}, {'connected_gene': 'GC15P069473', 'score': 0.44}, {'connected_gene': 'GC15P069478', 'score': 0.44}, {'connected_gene': 'GC15P069472', 'score': 0.44}, {'connected_gene': 'CSNK1G1', 'score': 0.44}, {'connected_gene': 'GC15P069477', 'score': 0.44}, {'connected_gene': 'ENSG00000259316', 'score': 0.37}]
chr15 GH15I064368 64368201 64368400 0.56 [{'connected_gene': 'ENSG00000252774', 'score': 11.52}, {'connected_gene': 'SNX22', 'score': 10.12}, {'connected_gene': 'RNU6-549P', 'score': 9.92}, {'connected_gene': 'RBPMS2', 'score': 9.5}, {'connected_gene': 'GC15P069473', 'score': 0.39}, {'connected_gene': 'ENSG00000259316', 'score': 0.39}, {'connected_gene': 'CSNK1G1', 'score': 0.39}, {'connected_gene': 'GC15P069477', 'score': 0.39}, {'connected_gene': 'GC15P069502', 'score': 0.37}, {'connected_gene': 'GC15P069478', 'score': 0.37}, {'connected_gene': 'GC15P069472', 'score': 0.37}, {'connected_gene': 'PCLAF', 'score': 0.37}]
chr15 GH15I065183 65183239 65186285 2.08 [{'connected_gene': 'GC15P069466', 'score': 550.77}, {'connected_gene': 'GC15P069460', 'score': 550.77}, {'connected_gene': 'GC15P069465', 'score': 550.77}, {'connected_gene': 'PIR37257', 'score': 550.77}, {'connected_gene': 'GC15P069464', 'score': 550.77}, {'connected_gene': 'GC15P069459', 'score': 550.77}, {'connected_gene': 'GC15P069462', 'score': 550.77}, {'connected_gene': 'GC15P069458', 'score': 550.77}, {'connected_gene': 'GC15P069461', 'score': 550.77}, {'connected_gene': 'CLPX', 'score': 550.77}, {'connected_gene': 'PARP16', 'score': 36.14}, {'connected_gene': 'INTS14', 'score': 24.08}, {'connected_gene': 'SPG21', 'score': 14.18}, {'connected_gene': 'TRIP4', 'score': 14.07}, {'connected_gene': 'ZNF609', 'score': 12.91}, {'connected_gene': 'SNORA24B', 'score': 12.34}, {'connected_gene': 'RNU5A-1', 'score': 12.33}, {'connected_gene': 'SLC24A1', 'score': 12.32}, {'connected_gene': 'CILP', 'score': 12.14}, {'connected_gene': 'RNU5B-1', 'score': 11.75}, {'connected_gene': 'PDCD7', 'score': 11.58}, {'connected_gene': 'UBAP1L', 'score': 8.02}, {'connected_gene': 'PCLAF', 'score': 5.05}, {'connected_gene': 'GC15P069470', 'score': 0.37}, {'connected_gene': 'GC15P069467', 'score': 0.37}, {'connected_gene': 'PIR39480', 'score': 0.37}, {'connected_gene': 'GC15P069468', 'score': 0.37}, {'connected_gene': 'GC15P069469', 'score': 0.37}]