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
ENST00000376480 [[11905765, 11906071], [11907169, 11907496], [11907618, 11907840]] [[11906065, 11906071], [11907169, 11907496], [11907618, 11907741]]
ENST00000376476 [[11905935, 11906071], [11907169, 11907496], [11908137, 11908402]] [[11906065, 11906071], [11907169, 11907469]]
NM_006172 [[11905765, 11906071], [11907169, 11907496], [11907618, 11907840]] [[11906065, 11906071], [11907169, 11907496], [11907618, 11907741]]
Promoter
Chrom Start End Description
chr1 11907265 11907271 CAGE_peak_9_at_NPPA_5end
chr1 11907318 11907327 CAGE_peak_7_at_NPPA_5end
chr1 11907395 11907410 CAGE_peak_4_at_NPPA_5end
chr1 11907415 11907418 CAGE_peak_15_at_NPPA_5end
chr1 11907441 11907453 CAGE_peak_3_at_NPPA_5end
chr1 11907474 11907481 CAGE_peak_10_at_NPPA_5end
chr1 11907829 11907847 CAGE_peak_1_at_NPPA_5end
chr1 11907940 11907947 CAGE_peak_2_at_NPPA_5end
chr1 11908185 11908202 CAGE_peak_6_at_NPPA_5end
chr1 11908227 11908236 CAGE_peak_8_at_NPPA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I011989 11989433 11991585 1.2 [{'connected_gene': 'MFN2', 'score': 72.86}, {'connected_gene': 'MIIP', 'score': 13.14}, {'connected_gene': 'PLOD1', 'score': 11.4}, {'connected_gene': 'KIAA2013', 'score': 11.29}, {'connected_gene': 'RNU5E-4P', 'score': 11.23}, {'connected_gene': 'RNU5E-1', 'score': 11.23}, {'connected_gene': 'NPPB', 'score': 3.73}, {'connected_gene': 'NPPA', 'score': 1.86}, {'connected_gene': 'ENSG00000270914', 'score': 0.31}]
chr1 GH01I011856 11856431 11857480 0.38 [{'connected_gene': 'NPPB', 'score': 550.77}, {'connected_gene': 'NPPA-AS1', 'score': 22.09}, {'connected_gene': 'RNU5E-4P', 'score': 11.38}, {'connected_gene': 'RNU5E-1', 'score': 11.38}, {'connected_gene': 'LOC102724659', 'score': 10.76}, {'connected_gene': 'C1orf167', 'score': 10.73}, {'connected_gene': 'KIAA2013', 'score': 10.62}, {'connected_gene': 'MFN2', 'score': 10.38}, {'connected_gene': 'NPPA', 'score': 0.44}]
chr1 GH01I011846 11846819 11848609 1.13 [{'connected_gene': 'NPPA', 'score': 550.77}, {'connected_gene': 'ENSG00000275915', 'score': 550.77}, {'connected_gene': 'NPPA-AS1', 'score': 23.44}, {'connected_gene': 'CLCN6', 'score': 7.55}, {'connected_gene': 'MIIP', 'score': 4.56}]