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
ENST00000037502 [[171604556, 171605849], [171607736, 171607862], [171621147, 171621823]] [[171605064, 171605849], [171607736, 171607862], [171621147, 171621751]]
NM_000261 [[171604556, 171605849], [171607736, 171607862], [171621147, 171621773]] [[171605064, 171605849], [171607736, 171607862], [171621147, 171621751]]
Promoter
Chrom Start End Description
chr1 171621815 171621835 CAGE_peak_1_at_MYOC_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I171738 171738353 171744505 2.65 [{'connected_gene': 'VAMP4', 'score': 559.28}, {'connected_gene': 'PRRC2C', 'score': 46.48}, {'connected_gene': 'METTL13', 'score': 45.97}, {'connected_gene': 'PIGC', 'score': 25.34}, {'connected_gene': 'FMO4', 'score': 11.19}, {'connected_gene': 'SUCO', 'score': 9.98}, {'connected_gene': 'MYOC', 'score': 9.56}, {'connected_gene': 'PIR43253', 'score': 0.22}]
chr1 GH01I171662 171662792 171664458 0.51 [{'connected_gene': 'PFN1P1', 'score': 0.44}, {'connected_gene': 'MYOC', 'score': 0.39}, {'connected_gene': 'GC01P171514', 'score': 0.11}]
chr1 GH01I171779 171779939 171782860 2.08 [{'connected_gene': 'METTL13', 'score': 606.02}, {'connected_gene': 'PRRC2C', 'score': 49.01}, {'connected_gene': 'PIGC', 'score': 28.13}, {'connected_gene': 'MYOC', 'score': 10.7}, {'connected_gene': 'DNM3', 'score': 5.38}, {'connected_gene': 'LOC105371614', 'score': 0.44}]
chr1 GH01I171652 171652221 171657852 1.68 [{'connected_gene': 'MYOC', 'score': 559.96}, {'connected_gene': 'VAMP4', 'score': 5.19}, {'connected_gene': 'PFN1P1', 'score': 0.37}, {'connected_gene': 'GC01P171514', 'score': 0.11}]
chr1 GH01I171744 171744801 171745446 0.79 [{'connected_gene': 'MYOC', 'score': 14.7}, {'connected_gene': 'METTL13', 'score': 11.63}, {'connected_gene': 'VAMP4', 'score': 10.18}, {'connected_gene': 'FMO4', 'score': 9.13}, {'connected_gene': 'PRRC2C', 'score': 5.08}, {'connected_gene': 'LOC100422548', 'score': 0.44}]
chr1 GH01I171440 171440933 171441921 0.77 [{'connected_gene': 'MYOC', 'score': 6.48}, {'connected_gene': 'CYCSP53', 'score': 0.77}, {'connected_gene': 'GC01M171420', 'score': 0.34}]
chr1 GH01I171673 171673782 171675703 0.31 [{'connected_gene': 'MYOC', 'score': 12.21}, {'connected_gene': 'DNM3', 'score': 6.93}, {'connected_gene': 'VAMP4', 'score': 4.39}, {'connected_gene': 'PFN1P1', 'score': 0.77}, {'connected_gene': 'RPL4P3', 'score': 0.44}, {'connected_gene': 'GC01P171514', 'score': 0.1}]
chr1 GH01I171717 171717185 171717778 0.2 [{'connected_gene': 'MYOC', 'score': 17.06}, {'connected_gene': 'PRRC2C', 'score': 10.1}, {'connected_gene': 'METTL13', 'score': 5.9}, {'connected_gene': 'VAMP4', 'score': 0.34}, {'connected_gene': 'PIR43253', 'score': 0.29}]
chr1 GH01I171467 171467718 171468994 0.8 [{'connected_gene': 'MYOC', 'score': 4.5}, {'connected_gene': 'PRRC2C', 'score': 0.37}, {'connected_gene': 'CYCSP53', 'score': 0.34}]
chr1 GH01I171641 171641035 171642256 0.54 [{'connected_gene': 'MYOC', 'score': 0.39}, {'connected_gene': 'LOC105371612', 'score': 0.26}, {'connected_gene': 'GC01P171514', 'score': 0.13}]
chr1 GH01I171799 171799423 171802628 0.67 [{'connected_gene': 'RPS15P3', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 12.58}, {'connected_gene': 'MYOC', 'score': 9.92}, {'connected_gene': 'C1orf105', 'score': 9.56}, {'connected_gene': 'DNM3', 'score': 6.98}, {'connected_gene': 'PIR37492', 'score': 0.37}]
chr1 GH01I171644 171644802 171646601 1.3 [{'connected_gene': 'PRRC2C', 'score': 9.6}, {'connected_gene': 'MYOC', 'score': 6.69}, {'connected_gene': 'VAMP4', 'score': 5.7}, {'connected_gene': 'LOC105371612', 'score': 0.26}, {'connected_gene': 'GC01P171514', 'score': 0.12}]
chr1 GH01I171483 171483969 171487608 2.28 [{'connected_gene': 'PRRC2C', 'score': 558.15}, {'connected_gene': 'MYOC', 'score': 5.06}, {'connected_gene': 'GC01P171492', 'score': 0.44}]
chr1 GH01I171753 171753693 171755651 1.09 [{'connected_gene': 'LOC100422549', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 17.14}, {'connected_gene': 'MYOC', 'score': 15.19}, {'connected_gene': 'VAMP4', 'score': 8.38}, {'connected_gene': 'LOC100422548', 'score': 0.77}]
chr1 GH01I171803 171803161 171803330 0.2 [{'connected_gene': 'ENSG00000213060', 'score': 550.77}, {'connected_gene': 'RPS15P3', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 10.98}, {'connected_gene': 'MYOC', 'score': 9.91}, {'connected_gene': 'C1orf105', 'score': 9.3}, {'connected_gene': 'DNM3', 'score': 5.26}]
chr1 GH01I171511 171511573 171518278 0.59 [{'connected_gene': 'GC01P171514', 'score': 550.77}, {'connected_gene': 'PRRC2C', 'score': 35.13}, {'connected_gene': 'GORAB', 'score': 16.0}, {'connected_gene': 'DNM3OS', 'score': 10.74}, {'connected_gene': 'METTL13', 'score': 5.26}, {'connected_gene': 'MYOC', 'score': 5.05}, {'connected_gene': 'GC01P171492', 'score': 0.34}]