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
ENST00000311506 [[60501227, 60501373], [60501579, 60501671], [60503659, 60504015], [60505148, 60505198], [60512592, 60512653], [60517977, 60518117], [60522197, 60522304], [60525061, 60525127], [60525935, 60527454]] [[60501263, 60501373], [60501579, 60501671], [60503659, 60504015], [60505148, 60505198], [60512592, 60512653], [60517977, 60518117], [60522197, 60522304], [60525061, 60525127], [60525935, 60526090]]
ENST00000333483 [[60501235, 60501671], [60503659, 60504015], [60505148, 60505198], [60512592, 60512653], [60517977, 60518117], [60522197, 60522304], [60525061, 60525127], [60525935, 60526275]] None
ENST00000582027 [[60512221, 60512653], [60517977, 60518117]] None
NM_181725 [[60501245, 60501373], [60501579, 60501671], [60503659, 60504015], [60505148, 60505198], [60512592, 60512653], [60517977, 60518117], [60522197, 60522304], [60525061, 60525127], [60525935, 60527454]] [[60501263, 60501373], [60501579, 60501671], [60503659, 60504015], [60505148, 60505198], [60512592, 60512653], [60517977, 60518117], [60522197, 60522304], [60525061, 60525127], [60525935, 60526090]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I062616 62616926 62620313 1.07 [{'connected_gene': 'MED13', 'score': 23.84}, {'connected_gene': 'RPS10P26', 'score': 12.04}, {'connected_gene': 'MRC2', 'score': 5.61}, {'connected_gene': 'METTL2A', 'score': 4.31}, {'connected_gene': 'ENSG00000277463', 'score': 0.44}, {'connected_gene': 'GC17P062611', 'score': 0.44}]
chr17 GH17I062489 62489725 62491980 0.43 [{'connected_gene': 'MRC2', 'score': 5.79}, {'connected_gene': 'METTL2A', 'score': 4.8}, {'connected_gene': 'INTS2', 'score': 4.73}, {'connected_gene': 'RPS10P26', 'score': 0.31}, {'connected_gene': 'TLK2', 'score': 0.29}]
chr17 GH17I062421 62421600 62421800 0.77 [{'connected_gene': 'MRC2', 'score': 5.79}, {'connected_gene': 'METTL2A', 'score': 0.77}, {'connected_gene': 'PIR38858', 'score': 0.37}]
chr17 GH17I062651 62651801 62655061 1.39 [{'connected_gene': 'INTS2', 'score': 13.38}, {'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 12.01}, {'connected_gene': 'METTL2A', 'score': 10.1}, {'connected_gene': 'ENSG00000207382', 'score': 0.44}, {'connected_gene': 'GC17M062662', 'score': 0.44}, {'connected_gene': 'GC17P062639', 'score': 0.39}, {'connected_gene': 'MRC2', 'score': 0.31}]
chr17 GH17I062470 62470601 62471600 1.39 [{'connected_gene': 'INTS2', 'score': 42.89}, {'connected_gene': 'METTL2A', 'score': 18.54}, {'connected_gene': 'MED13', 'score': 13.61}, {'connected_gene': 'NACA2', 'score': 9.65}, {'connected_gene': 'TLK2', 'score': 0.39}, {'connected_gene': 'RPS10P26', 'score': 0.25}]
chr17 GH17I062423 62423320 62424941 1.56 [{'connected_gene': 'METTL2A', 'score': 550.77}, {'connected_gene': 'MED13', 'score': 10.52}, {'connected_gene': 'PIR60058', 'score': 0.34}]
chr17 GH17I062789 62789199 62795115 1.66 [{'connected_gene': 'DDX42', 'score': 47.57}, {'connected_gene': 'MED13', 'score': 21.99}, {'connected_gene': 'INTS2', 'score': 21.78}, {'connected_gene': 'RPS10P26', 'score': 11.95}, {'connected_gene': 'MIR633', 'score': 10.6}, {'connected_gene': 'METTL2A', 'score': 10.08}, {'connected_gene': 'TLK2', 'score': 9.93}, {'connected_gene': 'DCAF7', 'score': 9.68}, {'connected_gene': 'MARCH10', 'score': 5.64}, {'connected_gene': 'GC17M062789', 'score': 0.77}, {'connected_gene': 'GC17M062752', 'score': 0.29}]
chr17 GH17I062477 62477309 62481027 2.1 [{'connected_gene': 'TLK2', 'score': 566.23}, {'connected_gene': 'MED13', 'score': 22.84}, {'connected_gene': 'RPS10P26', 'score': 12.17}, {'connected_gene': 'MRC2', 'score': 5.3}, {'connected_gene': 'METTL2A', 'score': 4.72}, {'connected_gene': 'INTS2', 'score': 4.36}]