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
ENST00000262644 [[57870491, 57876623], [57878749, 57878911], [57890608, 57890704], [57892593, 57892756], [57905757, 57906403]] [[57876351, 57876623], [57878749, 57878911], [57890608, 57890704], [57892593, 57892756], [57905757, 57906144]]
ENST00000520392 [[57876484, 57876623], [57878749, 57878911], [57879668, 57879777], [57890608, 57890704], [57892593, 57892671]] [[57879703, 57879777], [57890608, 57890704], [57892593, 57892671]]
ENST00000517461 [[57876691, 57876977], [57892717, 57892756], [57905757, 57905919]] [[57876929, 57876977], [57892717, 57892756], [57905757, 57905919]]
NM_017813 [[57870487, 57876623], [57878749, 57878911], [57890608, 57890704], [57892593, 57892756], [57905757, 57906430]] [[57876351, 57876623], [57878749, 57878911], [57890608, 57890704], [57892593, 57892756], [57905757, 57906144]]
Promoter
Chrom Start End Description
chr8 57905812 57905845 CAGE_peak_2_at_IMPAD1_5end
chr8 57906362 57906452 CAGE_peak_1_at_IMPAD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I056958 56958556 56959641 0.54 [{'connected_gene': 'IMPAD1', 'score': 11.78}, {'connected_gene': 'RNU6-13P', 'score': 9.9}, {'connected_gene': 'GC08P056956', 'score': 0.77}]
chr8 GH08I057108 57108801 57109000 0.66 [{'connected_gene': 'IMPAD1', 'score': 11.28}, {'connected_gene': 'RNA5SP266', 'score': 0.37}, {'connected_gene': 'GC08M057023', 'score': 0.22}]
chr8 GH08I056998 56998944 57001127 0.85 [{'connected_gene': 'IMPAD1', 'score': 0.44}, {'connected_gene': 'GC08P057023', 'score': 0.34}]
chr8 GH08I056991 56991800 56994913 1.93 [{'connected_gene': 'IMPAD1', 'score': 550.77}, {'connected_gene': 'GC08P056956', 'score': 0.28}]
chr8 GH08I056972 56972962 56973111 0.79 [{'connected_gene': 'GC08P056956', 'score': 0.37}, {'connected_gene': 'IMPAD1', 'score': 0.34}]
chr8 GH08I057014 57014041 57015174 0.31 [{'connected_gene': 'ENSG00000251142', 'score': 4.45}, {'connected_gene': 'GC08P057023', 'score': 0.44}, {'connected_gene': 'IMPAD1', 'score': 0.34}]