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
ENST00000399875 [[17597188, 17601033], [17602141, 17602257]] [[17600280, 17600952]]
ENST00000331437 [[17597189, 17602143]] [[17600280, 17602017]]
Promoter
Chrom Start End Description
chr22 17601758 17601792 CAGE_peak_3_at_CECR6_5end
chr22 17602160 17602175 CAGE_peak_2_at_CECR6_5end
chr22 17602200 17602265 CAGE_peak_1_at_CECR6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I017562 17562177 17564500 1.85 [{'connected_gene': 'SLC25A18', 'score': 571.98}, {'connected_gene': 'GC22P017566', 'score': 550.77}, {'connected_gene': 'TPTEP1', 'score': 5.77}, {'connected_gene': 'BID', 'score': 4.67}, {'connected_gene': 'MICAL3', 'score': 2.5}, {'connected_gene': 'TMEM121B', 'score': 1.94}, {'connected_gene': 'LOC105372850', 'score': 0.44}]
chr22 GH22I017198 17198060 17200548 1.1 [{'connected_gene': 'ADA2', 'score': 76.71}, {'connected_gene': 'CECR3', 'score': 11.77}, {'connected_gene': 'CECR2', 'score': 11.41}, {'connected_gene': 'LINC01664', 'score': 11.26}, {'connected_gene': 'TMEM121B', 'score': 11.26}, {'connected_gene': 'GC22P017193', 'score': 0.44}, {'connected_gene': 'GC22M017211', 'score': 0.39}]
chr22 GH22I017470 17470722 17473618 0.38 [{'connected_gene': 'CECR2', 'score': 15.95}, {'connected_gene': 'CECR3', 'score': 11.04}, {'connected_gene': 'ADA2', 'score': 11.02}, {'connected_gene': 'LINC01664', 'score': 10.79}, {'connected_gene': 'TMEM121B', 'score': 10.79}, {'connected_gene': 'CLCP1', 'score': 0.25}, {'connected_gene': 'GC22M017518', 'score': 0.25}]
chr22 GH22I017148 17148787 17151700 0.49 [{'connected_gene': 'HDHD5', 'score': 10.62}, {'connected_gene': 'IL17RA', 'score': 7.97}, {'connected_gene': 'TMEM121B', 'score': 6.84}, {'connected_gene': 'HDHD5-AS1', 'score': 0.44}, {'connected_gene': 'GC22P017137', 'score': 0.37}]
chr22 GH22I017157 17157793 17160406 1.99 [{'connected_gene': 'HDHD5', 'score': 559.96}, {'connected_gene': 'HDHD5-AS1', 'score': 550.77}, {'connected_gene': 'LINC01664', 'score': 12.06}, {'connected_gene': 'TMEM121B', 'score': 12.06}, {'connected_gene': 'GC22P017137', 'score': 0.34}]
chr22 GH22I017115 17115541 17118856 0.72 [{'connected_gene': 'TMEM121B', 'score': 12.18}, {'connected_gene': 'IL17RA', 'score': 6.94}, {'connected_gene': 'GC22P017113', 'score': 0.77}]
chr22 GH22I017106 17106001 17107800 0.86 [{'connected_gene': 'IL17RA', 'score': 12.57}, {'connected_gene': 'TMEM121B', 'score': 5.16}, {'connected_gene': 'GC22P017113', 'score': 0.44}, {'connected_gene': 'RPL31P62', 'score': 0.39}]
chr22 GH22I017191 17191130 17191600 0.52 [{'connected_gene': 'RPL32P5', 'score': 550.77}, {'connected_gene': 'GC22P017193', 'score': 550.77}, {'connected_gene': 'ADA2', 'score': 11.83}, {'connected_gene': 'CECR3', 'score': 11.72}, {'connected_gene': 'CECR2', 'score': 11.42}, {'connected_gene': 'LINC01664', 'score': 11.21}, {'connected_gene': 'TMEM121B', 'score': 11.21}, {'connected_gene': 'HDHD5', 'score': 0.31}]
chr22 GH22I017194 17194153 17194687 0.31 [{'connected_gene': 'RPL32P5', 'score': 550.77}, {'connected_gene': 'GC22P017193', 'score': 550.77}, {'connected_gene': 'ADA2', 'score': 16.29}, {'connected_gene': 'CECR3', 'score': 11.72}, {'connected_gene': 'CECR2', 'score': 11.42}, {'connected_gene': 'LINC01664', 'score': 11.2}, {'connected_gene': 'TMEM121B', 'score': 11.2}, {'connected_gene': 'GC22M017211', 'score': 0.37}]
chr22 GH22I017077 17077104 17077926 0.58 [{'connected_gene': 'LINC01664', 'score': 11.67}, {'connected_gene': 'TMEM121B', 'score': 11.67}, {'connected_gene': 'ADA2', 'score': 10.46}, {'connected_gene': 'CECR3', 'score': 10.43}, {'connected_gene': 'ENSG00000273442', 'score': 0.77}, {'connected_gene': 'ENSG00000273203', 'score': 0.44}]
chr22 GH22I017152 17152846 17153452 0.2 [{'connected_gene': 'LINC01664', 'score': 12.08}, {'connected_gene': 'TMEM121B', 'score': 12.08}, {'connected_gene': 'IL17RA', 'score': 7.49}, {'connected_gene': 'HDHD5', 'score': 5.87}, {'connected_gene': 'HDHD5-AS1', 'score': 0.44}, {'connected_gene': 'GC22P017137', 'score': 0.37}]
chr22 GH22I017120 17120600 17122093 1.86 [{'connected_gene': 'LINC01664', 'score': 550.77}, {'connected_gene': 'TMEM121B', 'score': 550.77}, {'connected_gene': 'IL17RA', 'score': 15.75}, {'connected_gene': 'GC22P017113', 'score': 0.44}]
chr22 GH22I017121 17120431 17120580 0.54 [{'connected_gene': 'LINC01664', 'score': 550.77}, {'connected_gene': 'TMEM121B', 'score': 550.77}, {'connected_gene': 'IL17RA', 'score': 16.5}, {'connected_gene': 'GC22P017113', 'score': 0.44}]
chr22 GH22I017119 17119691 17119740 0.54 [{'connected_gene': 'LINC01664', 'score': 550.77}, {'connected_gene': 'TMEM121B', 'score': 550.77}, {'connected_gene': 'GC22P017113', 'score': 0.44}]
chr22 GH22I017090 17090176 17094362 0.59 [{'connected_gene': 'RPL31P62', 'score': 550.77}, {'connected_gene': 'LINC01664', 'score': 12.83}, {'connected_gene': 'TMEM121B', 'score': 12.83}, {'connected_gene': 'CECR7', 'score': 10.85}, {'connected_gene': 'ADA2', 'score': 10.75}, {'connected_gene': 'CECR3', 'score': 10.72}, {'connected_gene': 'IL17RA', 'score': 6.53}, {'connected_gene': 'TPTEP1', 'score': 6.01}, {'connected_gene': 'ENSG00000236890', 'score': 5.32}]
chr22 GH22I017076 17076201 17076600 0.4 [{'connected_gene': 'CECR7', 'score': 19.25}, {'connected_gene': 'TMEM121B', 'score': 11.67}, {'connected_gene': 'LINC01664', 'score': 11.66}, {'connected_gene': 'ADA2', 'score': 10.46}, {'connected_gene': 'CECR3', 'score': 10.43}, {'connected_gene': 'ENSG00000273442', 'score': 0.77}, {'connected_gene': 'ENSG00000273203', 'score': 0.44}]
chr22 GH22I017074 17074802 17076049 1.18 [{'connected_gene': 'CECR7', 'score': 19.25}, {'connected_gene': 'LINC01664', 'score': 11.66}, {'connected_gene': 'TMEM121B', 'score': 11.66}, {'connected_gene': 'ADA2', 'score': 10.46}, {'connected_gene': 'CECR3', 'score': 10.43}, {'connected_gene': 'ENSG00000273203', 'score': 0.44}, {'connected_gene': 'ENSG00000273442', 'score': 0.44}]