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
ENST00000280191 [[177105788, 177106043], [177109269, 177109386], [177113777, 177113998], [177114108, 177114227], [177114603, 177114733], [177116495, 177116822]] [[177105930, 177106043], [177109269, 177109386], [177113777, 177113998], [177114108, 177114227], [177114603, 177114733], [177116495, 177116713]]
ENST00000515234 [[177105810, 177106043], [177109269, 177109386], [177113777, 177113998], [177114108, 177114227], [177114603, 177116028]] [[177105930, 177106043], [177109269, 177109386], [177113777, 177113946]]
ENST00000508699 [[177114122, 177114227], [177114603, 177114704], [177116495, 177116692]] [[177114670, 177114704], [177116495, 177116692]]
NM_144644 [[177105724, 177106043], [177109269, 177109386], [177113777, 177113998], [177114108, 177114227], [177114603, 177114733], [177116495, 177116822]] [[177105930, 177106043], [177109269, 177109386], [177113777, 177113998], [177114108, 177114227], [177114603, 177114733], [177116495, 177116713]]
Promoter
Chrom Start End Description
chr4 177116713 177116751 CAGE_peak_1_at_SPATA4_5end
chr4 177116772 177116779 CAGE_peak_2_at_SPATA4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I176156 176156192 176157192 0.31 [{'connected_gene': 'GPM6A', 'score': 10.04}, {'connected_gene': 'GC04M176150', 'score': 0.77}, {'connected_gene': 'SPATA4', 'score': 0.28}, {'connected_gene': 'GC04M176057', 'score': 0.2}, {'connected_gene': 'WDR17', 'score': 0.16}]
chr4 GH04I176184 176184681 176185883 0.62 [{'connected_gene': 'SPATA4', 'score': 12.82}, {'connected_gene': 'WDR17', 'score': 6.34}, {'connected_gene': 'GC04M176150', 'score': 0.29}, {'connected_gene': 'GC04M176057', 'score': 0.28}]
chr4 GH04I176192 176192483 176196310 1.97 [{'connected_gene': 'SPATA4', 'score': 550.77}, {'connected_gene': 'WDR17', 'score': 4.46}, {'connected_gene': 'GC04M176057', 'score': 0.31}, {'connected_gene': 'GC04M176150', 'score': 0.26}]
chr4 GH04I176186 176186164 176187978 0.43 [{'connected_gene': 'SPATA4', 'score': 0.44}, {'connected_gene': 'GC04M176150', 'score': 0.28}, {'connected_gene': 'GC04M176057', 'score': 0.28}]
chr4 GH04I176654 176654160 176654195 0.22 [{'connected_gene': 'LOC105377555', 'score': 550.77}, {'connected_gene': 'SPATA4', 'score': 40.06}, {'connected_gene': 'GC04P176677', 'score': 0.34}]