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
ENST00000535300 [[76251878, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76255836, 76255959], [76256130, 76256202], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260350]] [[76257199, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260335]]
ENST00000496055 [[76251881, 76251959], [76253181, 76256202], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260518]] None
ENST00000319942 [[76251885, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260764]] [[76251956, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260335]]
ENST00000473406 [[76251912, 76251959], [76252384, 76252482], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76256969, 76257022], [76257145, 76257256]] None
ENST00000485459 [[76251912, 76251959], [76253181, 76253289], [76255636, 76255959], [76256130, 76256202], [76256969, 76257022], [76257145, 76257256], [76257865, 76257939]] None
ENST00000370826 [[76251915, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255798]] [[76251956, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255786]]
ENST00000497648 [[76251927, 76251959], [76253181, 76254468]] None
ENST00000462042 [[76252383, 76252601], [76253181, 76253289], [76254843, 76255041], [76255636, 76255681]] None
ENST00000470201 [[76252384, 76252550], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76256969, 76257022], [76257145, 76257256], [76257865, 76257971]] None
ENST00000471759 [[76252385, 76253289], [76254843, 76255041], [76255636, 76255742], [76255836, 76255959], [76256130, 76256202], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260488]] None
ENST00000491266 [[76252387, 76252650], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76256969, 76257022], [76257145, 76257256], [76257865, 76257987]] None
ENST00000461653 [[76253180, 76253289], [76254843, 76256202], [76256969, 76257022], [76257145, 76257256], [76257865, 76257935]] None
ENST00000489450 [[76253207, 76253289], [76254843, 76255041], [76255836, 76255959], [76256130, 76256202], [76256969, 76257022], [76257145, 76257203]] None
ENST00000467748 [[76256953, 76257022], [76257145, 76257544]] None
ENST00000459697 [[76259066, 76259918], [76260194, 76260519]] None
NM_004582 [[76251878, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260775]] [[76251956, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260335]]
NR_073562 [[76251878, 76251959], [76253181, 76253289], [76254843, 76255041], [76255636, 76255742], [76255836, 76255959], [76256130, 76256202], [76256969, 76257022], [76257145, 76257256], [76257865, 76257991], [76259768, 76259918], [76260194, 76260775]] None
Promoter
Chrom Start End Description
chr1 76251888 76251909 CAGE_peak_2_at_RABGGTB_5end
chr1 76251912 76251921 CAGE_peak_3_at_RABGGTB_5end
chr1 76251931 76251956 CAGE_peak_1_at_RABGGTB_5end
chr1 76252364 76252383 CAGE_peak_5_at_RABGGTB_5end
chr1 76253161 76253185 CAGE_peak_4_at_RABGGTB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I075784 75784084 75791804 2.35 [{'connected_gene': 'RABGGTB', 'score': 559.18}, {'connected_gene': 'SNORD45B', 'score': 550.77}, {'connected_gene': 'GC01P075797', 'score': 550.77}, {'connected_gene': 'GC01P075800', 'score': 550.77}, {'connected_gene': 'GC01P075799', 'score': 550.77}, {'connected_gene': 'SNORD45C', 'score': 550.77}, {'connected_gene': 'SNORD45A', 'score': 550.77}, {'connected_gene': 'MSH4', 'score': 22.49}, {'connected_gene': 'DLSTP1', 'score': 10.1}, {'connected_gene': 'ACADM', 'score': 7.46}]
chr1 GH01I075765 75765070 75766712 0.66 [{'connected_gene': 'MSH4', 'score': 11.63}, {'connected_gene': 'ACADM', 'score': 9.78}, {'connected_gene': 'RABGGTB', 'score': 7.22}, {'connected_gene': 'DLSTP1', 'score': 0.34}]
chr1 GH01I075722 75722101 75728122 2.29 [{'connected_gene': 'ACADM', 'score': 568.97}, {'connected_gene': 'SLC44A5', 'score': 550.77}, {'connected_gene': 'ENSG00000178193', 'score': 550.77}, {'connected_gene': 'RABGGTB', 'score': 18.63}, {'connected_gene': 'SNORD45C', 'score': 12.18}, {'connected_gene': 'SNORD45A', 'score': 12.18}, {'connected_gene': 'MSH4', 'score': 11.61}, {'connected_gene': 'PIR54256', 'score': 0.37}]