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
ENST00000425263 [[44543419, 44543583], [44546144, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44587813]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000426481 [[44544748, 44545528], [44546144, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44587813]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000541738 [[44544749, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44588662, 44589001]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573481]]
ENST00000409411 [[44545901, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44588518, 44588685]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573481]]
ENST00000409957 [[44545901, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44588555, 44588700]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573481]]
ENST00000409936 [[44545904, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44587177], [44588518, 44588633]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000260648 [[44547965, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44587813]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000409272 [[44547965, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586889], [44588662, 44588944]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000410081 [[44548060, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586889], [44588518, 44588945]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000378520 [[44548206, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586888]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000378511 [[44548211, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586888]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000444696 [[44547404, 44547782], [44549869, 44549993], [44550400, 44550481]] [[44547774, 44547782], [44549869, 44549993], [44550400, 44550481]]
ENST00000420756 [[44548602, 44549039], [44549869, 44549993], [44550400, 44550441]] [[44548842, 44549039], [44549869, 44549993], [44550400, 44550441]]
ENST00000540817 [[44570943, 44571090], [44573406, 44573529], [44588662, 44588952]] None
ENST00000438314 [[44571046, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586889], [44587757, 44587815], [44588518, 44588632]] [[44571046, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
ENST00000477410 [[44573437, 44573529], [44574348, 44574462], [44583369, 44583507], [44588518, 44588685]] None
NM_001042386 [[44544745, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586888]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
NM_001042385 [[44544745, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586888]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
NM_006036 [[44544745, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44587813]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
NM_001171606 [[44544745, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44587177], [44588518, 44588700]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
NM_001171613 [[44544745, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44588518, 44588700]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573481]]
NM_001171603 [[44544745, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586889], [44588662, 44589001]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44586635, 44586854]]
NM_001171617 [[44544745, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573529], [44588662, 44589001]] [[44548494, 44548584], [44548965, 44549039], [44549869, 44549993], [44550400, 44550550], [44553850, 44554067], [44556075, 44556251], [44559597, 44559795], [44565489, 44565675], [44566285, 44566502], [44569555, 44569691], [44570883, 44571090], [44571658, 44571725], [44573406, 44573481]]
Promoter
Chrom Start End Description
chr2 44550471 44550475 CAGE_peak_7_at_PREPL_5end
chr2 44588624 44588640 CAGE_peak_1_at_PREPL_5end
chr2 44588649 44588667 CAGE_peak_3_at_PREPL_5end
chr2 44588679 44588693 CAGE_peak_2_at_PREPL_5end
chr2 44588694 44588707 CAGE_peak_5_at_PREPL_5end
chr2 44588709 44588720 CAGE_peak_6_at_PREPL_5end
chr2 44588893 44588960 CAGE_peak_4_at_PREPL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I044360 44360541 44363225 2.08 [{'connected_gene': 'PREPL', 'score': 550.77}, {'connected_gene': 'CAMKMT', 'score': 550.77}, {'connected_gene': 'THADA', 'score': 12.71}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044350 44350801 44352001 0.4 [{'connected_gene': 'PREPL', 'score': 0.39}, {'connected_gene': 'SLC3A1', 'score': 0.18}, {'connected_gene': 'GC02M044085', 'score': 0.06}]
chr2 GH02I044358 44358600 44359400 0.84 [{'connected_gene': 'PREPL', 'score': 0.77}, {'connected_gene': 'SLC3A1', 'score': 0.18}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044359 44359695 44359754 0.5 [{'connected_gene': 'PREPL', 'score': 550.77}, {'connected_gene': 'SLC3A1', 'score': 0.18}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044348 44348522 44348671 0.2 [{'connected_gene': 'PREPL', 'score': 0.39}, {'connected_gene': 'SLC3A1', 'score': 0.19}, {'connected_gene': 'GC02M044085', 'score': 0.06}]
chr2 GH02I044267 44267323 44268889 0.8 [{'connected_gene': 'PREPL', 'score': 4.47}, {'connected_gene': 'RPL12P19', 'score': 0.77}, {'connected_gene': 'LOC102723904', 'score': 0.15}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044434 44434800 44435746 0.2 [{'connected_gene': 'CAMKMT', 'score': 4.84}, {'connected_gene': 'PREPL', 'score': 4.66}, {'connected_gene': 'GC02P044396', 'score': 0.28}, {'connected_gene': 'GC02P044580', 'score': 0.11}, {'connected_gene': 'GC02M044085', 'score': 0.07}]
chr2 GH02I044286 44286982 44287131 0.67 [{'connected_gene': 'SLC3A1', 'score': 0.39}, {'connected_gene': 'PREPL', 'score': 0.19}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044315 44315651 44315957 0.43 [{'connected_gene': 'SLC3A1', 'score': 2.21}, {'connected_gene': 'PREPL', 'score': 0.25}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044275 44275070 44279555 1.02 [{'connected_gene': 'SLC3A1', 'score': 558.18}, {'connected_gene': 'PREPL', 'score': 5.97}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044295 44295190 44295436 0.62 [{'connected_gene': 'SLC3A1', 'score': 0.37}, {'connected_gene': 'PREPL', 'score': 0.2}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044325 44325002 44325151 0.67 [{'connected_gene': 'RNU6-566P', 'score': 10.41}, {'connected_gene': 'PREPL', 'score': 0.28}, {'connected_gene': 'SLC3A1', 'score': 0.25}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044289 44289979 44293136 1.08 [{'connected_gene': 'LOC100421122', 'score': 4.29}, {'connected_gene': 'SLC3A1', 'score': 0.37}, {'connected_gene': 'PREPL', 'score': 0.19}, {'connected_gene': 'GC02M044085', 'score': 0.05}]

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