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
ENST00000331251 [[53850990, 53853677]] [[53852467, 53853454]]
NM_005285 [[53852467, 53853454]] [[53852467, 53853454]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I052693 52693775 52696519 1.47 [{'connected_gene': 'RB1CC1', 'score': 7.97}, {'connected_gene': 'ST18', 'score': 5.83}, {'connected_gene': 'NPBWR1', 'score': 5.5}, {'connected_gene': 'LOC105375835', 'score': 0.37}, {'connected_gene': 'ALKAL1', 'score': 0.13}]
chr8 GH08I052783 52783421 52783630 0.2 [{'connected_gene': 'RB1CC1', 'score': 0.28}, {'connected_gene': 'NPBWR1', 'score': 0.1}]
chr8 GH08I052754 52754281 52754410 0.65 [{'connected_gene': 'RB1CC1', 'score': 0.44}, {'connected_gene': 'LOC105375835', 'score': 0.26}, {'connected_gene': 'NPBWR1', 'score': 0.09}]
chr8 GH08I052615 52615135 52618039 0.38 [{'connected_gene': 'ALKAL1', 'score': 10.55}, {'connected_gene': 'NPBWR1', 'score': 5.63}, {'connected_gene': 'ENSG00000228801', 'score': 4.02}, {'connected_gene': 'LOC105375835', 'score': 0.15}]
chr8 GH08I052763 52763660 52765271 0.88 [{'connected_gene': 'NPBWR1', 'score': 4.76}, {'connected_gene': 'RB1CC1', 'score': 0.37}, {'connected_gene': 'LOC105375835', 'score': 0.23}]
chr8 GH08I052843 52843450 52844110 0.56 [{'connected_gene': 'NPBWR1', 'score': 0.16}, {'connected_gene': 'RB1CC1', 'score': 0.15}]
chr8 GH08I052817 52817748 52820340 0.56 [{'connected_gene': 'NPBWR1', 'score': 5.96}, {'connected_gene': 'RB1CC1', 'score': 0.19}]
chr8 GH08I052824 52824808 52826276 0.63 [{'connected_gene': 'NPBWR1', 'score': 9.87}, {'connected_gene': 'RB1CC1', 'score': 0.18}]
chr8 GH08I052793 52793261 52793410 0.31 [{'connected_gene': 'NPBWR1', 'score': 5.6}, {'connected_gene': 'RB1CC1', 'score': 0.25}]
chr8 GH08I052837 52837966 52839355 0.31 [{'connected_gene': 'NPBWR1', 'score': 5.98}, {'connected_gene': 'RB1CC1', 'score': 0.16}]
chr8 GH08I052938 52938641 52938670 0.43 [{'connected_gene': 'NPBWR1', 'score': 550.77}, {'connected_gene': 'GC08M052938', 'score': 0.77}]
chr8 GH08I052782 52782636 52783408 0.38 [{'connected_gene': 'ENSG00000228801', 'score': 3.94}, {'connected_gene': 'RB1CC1', 'score': 0.28}, {'connected_gene': 'NPBWR1', 'score': 0.1}]
chr8 GH08I052939 52939049 52942260 0.95 [{'connected_gene': 'GC08M052938', 'score': 550.77}, {'connected_gene': 'ALKAL1', 'score': 9.78}, {'connected_gene': 'NPBWR1', 'score': 0.77}]