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
ENST00000493030 [[228581373, 228582953], [228584647, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228593605]] [[228582405, 228582953], [228584647, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228589895]]
ENST00000284551 [[228581376, 228582953], [228584647, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228589862], [228593854, 228594541]] [[228582405, 228582953], [228584647, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228589862], [228593854, 228594262]]
ENST00000460651 [[228582156, 228582953], [228584647, 228584748], [228588639, 228588892], [228589762, 228589799]] None
ENST00000602582 [[228582525, 228582953], [228584647, 228584748], [228584843, 228584866], [228589766, 228589862], [228593854, 228593888]] [[228582525, 228582953], [228584647, 228584748], [228584843, 228584866], [228589766, 228589862], [228593854, 228593888]]
ENST00000366699 [[228583234, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228589862], [228593854, 228594501]] [[228584348, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228589862], [228593854, 228594262]]
ENST00000602308 [[228584313, 228584866], [228593854, 228593887]] [[228584734, 228584866], [228593854, 228593887]]
ENST00000475775 [[228582908, 228582953], [228584647, 228584748], [228584843, 228585390]] None
NM_145214 [[228581376, 228582953], [228584647, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228589862], [228593854, 228594517]] [[228582405, 228582953], [228584647, 228584748], [228584843, 228584866], [228588664, 228588895], [228589766, 228589862], [228593854, 228594262]]
Promoter
Chrom Start End Description
chr1 228594469 228594488 CAGE_peak_2_at_TRIM11_5end
chr1 228594490 228594561 CAGE_peak_1_at_TRIM11_5end
chr1 228594706 228594725 CAGE_peak_4_at_TRIM11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I228511 228511900 228512042 0.2 [{'connected_gene': 'HIST3H2A', 'score': 11.58}, {'connected_gene': 'HIST3H2BB', 'score': 11.58}, {'connected_gene': 'RPL23AP15', 'score': 11.56}, {'connected_gene': 'ENSG00000231563', 'score': 10.88}, {'connected_gene': 'TRIM11', 'score': 10.87}, {'connected_gene': 'BTNL10', 'score': 0.77}, {'connected_gene': 'LOC105373124', 'score': 0.77}]
chr1 GH01I228510 228510433 228510556 0.31 [{'connected_gene': 'HIST3H2A', 'score': 11.58}, {'connected_gene': 'HIST3H2BB', 'score': 11.58}, {'connected_gene': 'RPL23AP15', 'score': 11.56}, {'connected_gene': 'ENSG00000231563', 'score': 10.88}, {'connected_gene': 'TRIM11', 'score': 10.88}, {'connected_gene': 'BTNL10', 'score': 0.77}, {'connected_gene': 'LOC105373124', 'score': 0.77}]
chr1 GH01I228226 228226633 228229806 1.08 [{'connected_gene': 'OBSCN', 'score': 58.64}, {'connected_gene': 'ENSG00000231563', 'score': 10.81}, {'connected_gene': 'TRIM11', 'score': 10.81}, {'connected_gene': 'GC01P228217', 'score': 0.39}, {'connected_gene': 'ENSG00000269890', 'score': 0.25}]
chr1 GH01I228282 228282460 228282609 0.46 [{'connected_gene': 'OBSCN', 'score': 30.97}, {'connected_gene': 'ENSG00000231563', 'score': 11.24}, {'connected_gene': 'TRIM11', 'score': 11.24}, {'connected_gene': 'ENSG00000269934', 'score': 0.44}, {'connected_gene': 'GC01P228299', 'score': 0.37}]
chr1 GH01I228373 228373992 228376074 1.06 [{'connected_gene': 'TRIM11', 'score': 16.26}, {'connected_gene': 'OBSCN', 'score': 15.17}, {'connected_gene': 'ENSG00000231563', 'score': 11.98}, {'connected_gene': 'RPL23AP15', 'score': 11.24}, {'connected_gene': 'HIST3H2A', 'score': 11.22}, {'connected_gene': 'HIST3H2BB', 'score': 11.22}, {'connected_gene': 'OBSCN-AS1', 'score': 10.73}, {'connected_gene': 'LOC101927401', 'score': 0.44}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}]
chr1 GH01I228445 228445521 228446654 1.17 [{'connected_gene': 'TRIM17', 'score': 16.97}, {'connected_gene': 'OBSCN', 'score': 16.3}, {'connected_gene': 'TRIM11', 'score': 13.15}, {'connected_gene': 'ENSG00000231563', 'score': 11.92}, {'connected_gene': 'OBSCN-AS1', 'score': 10.39}, {'connected_gene': 'WNT3A', 'score': 9.99}, {'connected_gene': 'GJC2', 'score': 4.48}, {'connected_gene': 'HIST3H2A', 'score': 2.15}, {'connected_gene': 'RPL23AP15', 'score': 0.77}, {'connected_gene': 'HIST3H3', 'score': 0.34}]
chr1 GH01I228646 228646000 228649442 2.09 [{'connected_gene': 'LOC105373132', 'score': 550.77}, {'connected_gene': 'RNA5SP18', 'score': 550.77}, {'connected_gene': 'GC01M228712', 'score': 550.77}, {'connected_gene': 'RNA5S17', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 15.16}, {'connected_gene': 'HMGN2P19', 'score': 12.25}, {'connected_gene': 'C1orf35', 'score': 12.2}, {'connected_gene': 'LOC105373159', 'score': 11.88}, {'connected_gene': 'ENSG00000269890', 'score': 11.85}, {'connected_gene': 'NUP133', 'score': 11.06}, {'connected_gene': 'RHOU', 'score': 11.0}, {'connected_gene': 'HIST3H3', 'score': 10.82}, {'connected_gene': 'TAF5L', 'score': 9.94}, {'connected_gene': 'DUSP5P1', 'score': 5.57}, {'connected_gene': 'ENSG00000270110', 'score': 5.02}, {'connected_gene': 'RNF187', 'score': 4.36}, {'connected_gene': 'HIST3H2A', 'score': 1.44}, {'connected_gene': 'TRIM11', 'score': 1.41}]
chr1 GH01I228512 228512064 228512273 0.2 [{'connected_gene': 'BTNL10', 'score': 550.77}, {'connected_gene': 'HIST3H2A', 'score': 11.58}, {'connected_gene': 'HIST3H2BB', 'score': 11.58}, {'connected_gene': 'RPL23AP15', 'score': 11.56}, {'connected_gene': 'ENSG00000231563', 'score': 10.88}, {'connected_gene': 'TRIM11', 'score': 10.87}, {'connected_gene': 'LOC105373124', 'score': 0.77}]
chr1 GH01I228275 228275040 228277082 1.36 [{'connected_gene': 'ENSG00000269934', 'score': 561.3}, {'connected_gene': 'ENSG00000269890', 'score': 560.79}, {'connected_gene': 'OBSCN', 'score': 23.95}, {'connected_gene': 'CICP26', 'score': 12.91}, {'connected_gene': 'OBSCN-AS1', 'score': 11.71}, {'connected_gene': 'ENSG00000231563', 'score': 11.23}, {'connected_gene': 'TRIM11', 'score': 11.23}, {'connected_gene': 'RPL23AP15', 'score': 10.39}, {'connected_gene': 'HIST3H2A', 'score': 10.39}, {'connected_gene': 'HIST3H2BB', 'score': 10.39}, {'connected_gene': 'ENSG00000270110', 'score': 4.97}]
chr1 GH01I228403 228403895 228408562 2.03 [{'connected_gene': 'ENSG00000231563', 'score': 550.77}, {'connected_gene': 'TRIM11', 'score': 550.77}, {'connected_gene': 'GC01M228396', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 18.08}, {'connected_gene': 'ZNF678', 'score': 12.48}, {'connected_gene': 'HIST3H3', 'score': 10.87}, {'connected_gene': 'C1orf35', 'score': 10.54}, {'connected_gene': 'MRPL55', 'score': 10.43}, {'connected_gene': 'ENSG00000269890', 'score': 10.42}, {'connected_gene': 'WNT3A', 'score': 4.47}, {'connected_gene': 'PIR32292', 'score': 0.77}, {'connected_gene': 'GC01M228403', 'score': 0.77}, {'connected_gene': 'TRIM17', 'score': 0.39}]
chr1 GH01I228377 228377791 228379612 1.35 [{'connected_gene': 'ENSG00000231563', 'score': 12.0}, {'connected_gene': 'TRIM11', 'score': 12.0}, {'connected_gene': 'RPL23AP15', 'score': 11.24}, {'connected_gene': 'HIST3H2A', 'score': 11.23}, {'connected_gene': 'HIST3H2BB', 'score': 11.23}, {'connected_gene': 'OBSCN-AS1', 'score': 10.73}, {'connected_gene': 'OBSCN', 'score': 10.72}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}, {'connected_gene': 'LOC101927401', 'score': 0.39}]
chr1 GH01I228393 228392900 228394772 0.63 [{'connected_gene': 'ENSG00000270094', 'score': 550.77}, {'connected_gene': 'RPL23AP15', 'score': 11.58}, {'connected_gene': 'HIST3H2A', 'score': 11.57}, {'connected_gene': 'HIST3H2BB', 'score': 11.57}, {'connected_gene': 'HIST3H3', 'score': 11.34}, {'connected_gene': 'OBSCN-AS1', 'score': 10.61}, {'connected_gene': 'OBSCN', 'score': 10.6}, {'connected_gene': 'TRIM17', 'score': 5.71}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}, {'connected_gene': 'TRIM11', 'score': 0.39}]
chr1 GH01I228463 228463476 228465899 1.92 [{'connected_gene': 'GC01P228464', 'score': 550.77}, {'connected_gene': 'HIST3H2BA', 'score': 550.77}, {'connected_gene': 'ENSG00000231563', 'score': 10.46}, {'connected_gene': 'TRIM11', 'score': 10.46}, {'connected_gene': 'OBSCN', 'score': 10.08}, {'connected_gene': 'HIST3H2BB', 'score': 3.99}, {'connected_gene': 'HIST3H2A', 'score': 3.64}, {'connected_gene': 'RNF187', 'score': 0.34}]