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
ENST00000377103 [[23026269, 23030378]] [[23028413, 23030141]]
NM_000361 [[23026269, 23030301]] [[23028413, 23030141]]
Promoter
Chrom Start End Description
chr20 23029233 23029266 CAGE_peak_2_at_THBD_5end
chr20 23029353 23029362 CAGE_peak_9_at_THBD_5end
chr20 23029606 23029614 CAGE_peak_17_at_THBD_5end
chr20 23029620 23029640 CAGE_peak_5_at_THBD_5end
chr20 23029668 23029678 CAGE_peak_14_at_THBD_5end
chr20 23030296 23030315 CAGE_peak_1_at_THBD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I023047 23047457 23052407 2.42 [{'connected_gene': 'THBD', 'score': 553.69}, {'connected_gene': 'GC20P023049', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 5.15}, {'connected_gene': 'GZF1', 'score': 1.3}, {'connected_gene': 'GC20P023047', 'score': 0.77}, {'connected_gene': 'GC20P023071', 'score': 0.34}]
chr20 GH20I022761 22761738 22765375 1.37 [{'connected_gene': 'THBD', 'score': 2.0}, {'connected_gene': 'LOC105372567', 'score': 0.44}, {'connected_gene': 'KRT18P3', 'score': 0.31}]
chr20 GH20I023245 23245600 23246200 1.32 [{'connected_gene': 'NXT1', 'score': 24.39}, {'connected_gene': 'THBD', 'score': 13.13}, {'connected_gene': 'CD93', 'score': 12.79}, {'connected_gene': 'NAPB', 'score': 3.12}, {'connected_gene': 'ENSG00000230387', 'score': 0.22}, {'connected_gene': 'ENSG00000277901', 'score': 0.18}]
chr20 GH20I023366 23366001 23367312 1.42 [{'connected_gene': 'NAPB', 'score': 17.8}, {'connected_gene': 'CSTL1', 'score': 6.55}, {'connected_gene': 'CD93', 'score': 2.07}, {'connected_gene': 'GZF1', 'score': 1.58}, {'connected_gene': 'THBD', 'score': 1.32}, {'connected_gene': 'RNA5SP479', 'score': 0.39}, {'connected_gene': 'GC20M023381', 'score': 0.39}]
chr20 GH20I023119 23119069 23120200 1.03 [{'connected_gene': 'CD93', 'score': 32.98}, {'connected_gene': 'THBD', 'score': 1.58}, {'connected_gene': 'GZF1', 'score': 1.16}, {'connected_gene': 'LINC00656', 'score': 0.39}]
chr20 GH20I023102 23102096 23107978 1.19 [{'connected_gene': 'CD93', 'score': 28.3}, {'connected_gene': 'THBD', 'score': 3.32}, {'connected_gene': 'GZF1', 'score': 1.69}, {'connected_gene': 'LINC00656', 'score': 0.31}]
chr20 GH20I023094 23094852 23095284 0.86 [{'connected_gene': 'CD93', 'score': 4.92}, {'connected_gene': 'THBD', 'score': 4.43}, {'connected_gene': 'GZF1', 'score': 1.84}, {'connected_gene': 'LINC00656', 'score': 0.28}]
chr20 GH20I023080 23080477 23088517 2.23 [{'connected_gene': 'CD93', 'score': 574.34}, {'connected_gene': 'THBD', 'score': 6.51}, {'connected_gene': 'GZF1', 'score': 2.74}, {'connected_gene': 'ENSG00000279447', 'score': 0.39}]
chr20 GH20I023097 23096580 23097803 0.8 [{'connected_gene': 'CD93', 'score': 5.14}, {'connected_gene': 'THBD', 'score': 3.02}, {'connected_gene': 'LINC00656', 'score': 0.28}]
chr20 GH20I023077 23077414 23079995 0.54 [{'connected_gene': 'CD93', 'score': 6.51}, {'connected_gene': 'THBD', 'score': 5.39}, {'connected_gene': 'ENSG00000279447', 'score': 0.44}]
chr20 GH20I023141 23141005 23163013 1.83 [{'connected_gene': 'CD93', 'score': 43.97}, {'connected_gene': 'NXT1', 'score': 25.67}, {'connected_gene': 'THBD', 'score': 17.71}, {'connected_gene': 'ENSG00000230387', 'score': 7.44}, {'connected_gene': 'GZF1', 'score': 3.46}, {'connected_gene': 'CST3', 'score': 1.55}, {'connected_gene': 'ENSG00000279164', 'score': 0.77}, {'connected_gene': 'RNA5SP478', 'score': 0.44}, {'connected_gene': 'LOC100505664', 'score': 0.44}]
chr20 GH20I023224 23224818 23226106 1.2 [{'connected_gene': 'CD93', 'score': 14.91}, {'connected_gene': 'ENSG00000230387', 'score': 8.87}, {'connected_gene': 'CST3', 'score': 3.74}, {'connected_gene': 'THBD', 'score': 2.43}, {'connected_gene': 'GZF1', 'score': 1.37}, {'connected_gene': 'ENSG00000277901', 'score': 0.15}]
chr20 GH20I023059 23059712 23063083 1.34 [{'connected_gene': 'CD93', 'score': 20.05}, {'connected_gene': 'ENSG00000234646', 'score': 11.11}, {'connected_gene': 'LOC101929707', 'score': 10.93}, {'connected_gene': 'THBD', 'score': 8.13}, {'connected_gene': 'GC20P023071', 'score': 0.39}, {'connected_gene': 'GC20P023049', 'score': 0.39}]
chr20 GH20I023129 23129001 23134624 1.58 [{'connected_gene': 'LINC00656', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 38.66}, {'connected_gene': 'NXT1', 'score': 10.23}, {'connected_gene': 'ENSG00000234832', 'score': 10.23}, {'connected_gene': 'ENSG00000230387', 'score': 4.37}, {'connected_gene': 'THBD', 'score': 2.15}, {'connected_gene': 'GZF1', 'score': 1.26}]
chr20 GH20I023048 23047099 23047133 0.2 [{'connected_gene': 'GC20P023047', 'score': 550.77}, {'connected_gene': 'THBD', 'score': 0.77}]
chr20 GH20I023046 23046584 23046753 0.52 [{'connected_gene': 'GC20P023047', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 11.07}, {'connected_gene': 'THBD', 'score': 0.77}, {'connected_gene': 'SSTR4', 'score': 0.39}]