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
ENST00000246151 [[24104894, 24105203], [24105927, 24105971], [24106353, 24106431], [24112164, 24112269], [24112804, 24112913], [24113764, 24114722]] [[24105005, 24105203], [24105927, 24105971], [24106353, 24106431], [24112164, 24112269], [24112804, 24112913], [24113764, 24113866]]
ENST00000415372 [[24105846, 24106431], [24112164, 24112269], [24112804, 24112868]] [[24106390, 24106431], [24112164, 24112269], [24112804, 24112868]]
ENST00000374524 [[24111681, 24111801], [24112164, 24112269], [24112804, 24112913], [24113764, 24114722]] [[24112183, 24112269], [24112804, 24112913], [24113764, 24113866]]
NM_020362 [[24104875, 24105203], [24105927, 24105971], [24106353, 24106431], [24112164, 24112269], [24112804, 24112913], [24113764, 24114722]] [[24105005, 24105203], [24105927, 24105971], [24106353, 24106431], [24112164, 24112269], [24112804, 24112913], [24113764, 24113866]]
Promoter
Chrom Start End Description
chr1 24104869 24104918 CAGE_peak_1_at_PITHD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I023807 23807611 23807760 0.6 [{'connected_gene': 'PITHD1', 'score': 12.41}, {'connected_gene': 'ELOA-AS1', 'score': 12.41}, {'connected_gene': 'PIR41142', 'score': 0.44}, {'connected_gene': 'GC01P023838', 'score': 0.29}, {'connected_gene': 'HMGCL', 'score': 0.29}]
chr1 GH01I023751 23751351 23751600 0.68 [{'connected_gene': 'PITHD1', 'score': 12.41}, {'connected_gene': 'ELOA-AS1', 'score': 12.41}, {'connected_gene': 'LYPLA2', 'score': 11.6}, {'connected_gene': 'GC01P023754', 'score': 0.77}, {'connected_gene': 'ELOA', 'score': 0.44}]
chr1 GH01I023750 23750851 23751000 0.2 [{'connected_gene': 'PITHD1', 'score': 12.41}, {'connected_gene': 'ELOA-AS1', 'score': 12.41}, {'connected_gene': 'LYPLA2', 'score': 11.6}, {'connected_gene': 'GC01P023754', 'score': 0.77}, {'connected_gene': 'ELOA', 'score': 0.44}]
chr1 GH01I023776 23776821 23780676 2.28 [{'connected_gene': 'PITHD1', 'score': 556.34}, {'connected_gene': 'ELOA-AS1', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 22.17}, {'connected_gene': 'KDM1A', 'score': 14.07}, {'connected_gene': 'SRRM1', 'score': 12.23}, {'connected_gene': 'ELOA', 'score': 12.08}, {'connected_gene': 'FUCA1', 'score': 10.59}, {'connected_gene': 'LYPLA2', 'score': 0.39}]
chr1 GH01I023809 23809311 23811414 1.38 [{'connected_gene': 'FUCA1', 'score': 25.74}, {'connected_gene': 'PITHD1', 'score': 11.66}, {'connected_gene': 'ELOA-AS1', 'score': 11.66}, {'connected_gene': 'PIR41142', 'score': 0.44}, {'connected_gene': 'GC01P023838', 'score': 0.31}, {'connected_gene': 'HMGCL', 'score': 0.31}]
chr1 GH01I023895 23895002 23898120 1.12 [{'connected_gene': 'FUCA1', 'score': 18.55}, {'connected_gene': 'PITHD1', 'score': 10.9}, {'connected_gene': 'ELOA-AS1', 'score': 10.9}, {'connected_gene': 'SRSF10', 'score': 10.75}, {'connected_gene': 'BTBD6P1', 'score': 0.44}, {'connected_gene': 'GC01M023881', 'score': 0.39}, {'connected_gene': 'CNR2', 'score': 0.37}]
chr1 GH01I023899 23899151 23899320 0.83 [{'connected_gene': 'FUCA1', 'score': 12.93}, {'connected_gene': 'PITHD1', 'score': 10.9}, {'connected_gene': 'ELOA-AS1', 'score': 10.9}, {'connected_gene': 'SRSF10', 'score': 10.75}, {'connected_gene': 'BTBD6P1', 'score': 0.77}, {'connected_gene': 'CNR2', 'score': 0.39}, {'connected_gene': 'GC01M023881', 'score': 0.37}]