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
ENST00000568335 [[8619501, 8620007], [8622088, 8622226]] [[8619774, 8620007], [8622088, 8622226]]
ENST00000444171 [[8619707, 8620007], [8622088, 8622304]] None
NR_110736 [[8576550, 8576680], [8602116, 8602209], [8619726, 8619747], [8621956, 8621970]] None
NM_001290098 [[8587570, 8587828]] [[8587817, 8587828]]
NM_001290095 [[8619501, 8620007]] [[8619774, 8620007]]
NM_001290097 [[8619501, 8620007], [8622088, 8622226]] [[8619774, 8620007], [8622088, 8622226]]
NM_001146336 [[8619501, 8620007], [8622088, 8622226]] [[8619774, 8620007], [8622088, 8622226]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I008569 8569601 8570200 0.66 [{'connected_gene': 'METTL22', 'score': 10.68}, {'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'GC16M008570', 'score': 0.39}, {'connected_gene': 'TMEM114', 'score': 0.34}]
chr16 GH16I008565 8565398 8565863 0.52 [{'connected_gene': 'METTL22', 'score': 10.64}, {'connected_gene': 'GC16P008558', 'score': 0.44}, {'connected_gene': 'GC16M008570', 'score': 0.37}, {'connected_gene': 'TMEM114', 'score': 0.34}]
chr16 GH16I008547 8547815 8549013 0.31 [{'connected_gene': 'METTL22', 'score': 4.9}, {'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'ENSG00000261066', 'score': 0.37}, {'connected_gene': 'TMEM114', 'score': 0.26}]
chr16 GH16I008570 8570630 8572131 0.99 [{'connected_gene': 'METTL22', 'score': 10.74}, {'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'GC16M008570', 'score': 0.39}, {'connected_gene': 'TMEM114', 'score': 0.37}]
chr16 GH16I008567 8567600 8568201 1.2 [{'connected_gene': 'METTL22', 'score': 10.74}, {'connected_gene': 'GC16P008558', 'score': 0.44}, {'connected_gene': 'GC16M008570', 'score': 0.37}, {'connected_gene': 'TMEM114', 'score': 0.34}]
chr16 GH16I008631 8631760 8633760 1.25 [{'connected_gene': 'C16orf72', 'score': 15.8}, {'connected_gene': 'METTL22', 'score': 15.49}, {'connected_gene': 'TMEM114', 'score': 11.24}, {'connected_gene': 'USP7', 'score': 3.35}, {'connected_gene': 'GC16M008655', 'score': 0.31}]
chr16 GH16I008536 8536799 8536948 0.31 [{'connected_gene': 'TMEM114', 'score': 10.82}, {'connected_gene': 'METTL22', 'score': 5.38}, {'connected_gene': 'ENSG00000261066', 'score': 0.77}, {'connected_gene': 'GC16P008558', 'score': 0.34}]
chr16 GH16I008594 8594404 8594553 0.89 [{'connected_gene': 'TMEM114', 'score': 0.77}, {'connected_gene': 'METTL22', 'score': 0.31}]
chr16 GH16I008635 8635464 8635613 0.9 [{'connected_gene': 'TMEM114', 'score': 11.04}, {'connected_gene': 'METTL22', 'score': 0.39}, {'connected_gene': 'GC16M008655', 'score': 0.34}]
chr16 GH16I008537 8537143 8538406 0.81 [{'connected_gene': 'TMEM114', 'score': 11.29}, {'connected_gene': 'ENSG00000261066', 'score': 0.44}, {'connected_gene': 'GC16P008558', 'score': 0.34}]
chr16 GH16I008585 8585110 8585469 0.33 [{'connected_gene': 'GC16M008570', 'score': 550.77}, {'connected_gene': 'METTL22', 'score': 7.0}, {'connected_gene': 'TMEM114', 'score': 0.77}]
chr16 GH16I008698 8698064 8698153 0.63 [{'connected_gene': 'GC16M008686', 'score': 550.77}, {'connected_gene': 'TMEM114', 'score': 10.4}, {'connected_gene': 'GC16M008705', 'score': 0.44}, {'connected_gene': 'ABAT', 'score': 0.34}]
chr16 GH16I008583 8583879 8584028 0.57 [{'connected_gene': 'GC16M008570', 'score': 550.77}, {'connected_gene': 'TMEM114', 'score': 0.44}]
chr16 GH16I008582 8582201 8582400 0.57 [{'connected_gene': 'GC16M008570', 'score': 550.77}, {'connected_gene': 'TMEM114', 'score': 0.44}, {'connected_gene': 'GC16P008558', 'score': 0.34}]
chr16 GH16I008571 8570214 8570321 0.2 [{'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'GC16M008570', 'score': 0.39}, {'connected_gene': 'TMEM114', 'score': 0.37}]
chr16 GH16I008580 8580605 8580971 0.22 [{'connected_gene': 'GC16M008570', 'score': 0.77}, {'connected_gene': 'TMEM114', 'score': 0.44}, {'connected_gene': 'GC16P008558', 'score': 0.34}]
chr16 GH16I008544 8544116 8545128 0.31 [{'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'ENSG00000261066', 'score': 0.39}, {'connected_gene': 'TMEM114', 'score': 0.25}]
chr16 GH16I008572 8572499 8573339 0.86 [{'connected_gene': 'ENSG00000260349', 'score': 10.16}, {'connected_gene': 'ENSG00000260276', 'score': 9.75}, {'connected_gene': 'ABAT', 'score': 6.44}, {'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'GC16M008570', 'score': 0.39}, {'connected_gene': 'TMEM114', 'score': 0.37}]