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
ENST00000562435 [[47111613, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156778, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177908]] [[47117131, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156778, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177523]]
ENST00000303155 [[47115544, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156799, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177620]] [[47117131, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156799, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177523]]
ENST00000562559 [[47116900, 47117712], [47143393, 47143622], [47156567, 47156695], [47156799, 47156823], [47162235, 47162369]] [[47117131, 47117712], [47143393, 47143622], [47156567, 47156695], [47156799, 47156823], [47162235, 47162369]]
ENST00000564667 [[47117017, 47117712], [47143441, 47143545]] [[47117131, 47117712], [47143441, 47143545]]
ENST00000563078 [[47117524, 47117712], [47143393, 47143622], [47156567, 47156695], [47156778, 47156814]] [[47117524, 47117712], [47143393, 47143622], [47156567, 47156695], [47156778, 47156814]]
NM_018092 [[47115430, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156778, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177936]] [[47117131, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156778, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177523]]
NM_001201477 [[47115430, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156799, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177936]] [[47117131, 47117712], [47120136, 47120250], [47143393, 47143622], [47156567, 47156695], [47156799, 47156823], [47162235, 47162484], [47163134, 47163275], [47165879, 47165936], [47177489, 47177523]]
Promoter
Chrom Start End Description
chr16 47177845 47177864 CAGE_peak_1_at_NETO2_5end
chr16 47177874 47177922 CAGE_peak_2_at_NETO2_5end
chr16 47177926 47177939 CAGE_peak_3_at_NETO2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I048117 48117570 48117739 0.75 [{'connected_gene': 'ABCC12', 'score': 11.44}, {'connected_gene': 'NETO2', 'score': 10.8}, {'connected_gene': 'ENSG00000261017', 'score': 0.22}]
chr16 GH16I048053 48053198 48055400 0.87 [{'connected_gene': 'NETO2', 'score': 11.59}, {'connected_gene': 'LONP2', 'score': 6.03}, {'connected_gene': 'ENSG00000261017', 'score': 0.44}, {'connected_gene': 'LINC02134', 'score': 0.17}]
chr16 GH16I046960 46960269 46960478 0.31 [{'connected_gene': 'NETO2', 'score': 10.49}, {'connected_gene': 'DNAJA2', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.28}]
chr16 GH16I046961 46961396 46962498 0.63 [{'connected_gene': 'NETO2', 'score': 10.49}, {'connected_gene': 'DNAJA2', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.28}]
chr16 GH16I047141 47141201 47144801 2.48 [{'connected_gene': 'NETO2', 'score': 552.87}, {'connected_gene': 'ITFG1-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000261173', 'score': 4.1}, {'connected_gene': 'GC16P047117', 'score': 0.31}]
chr16 GH16I047139 47139429 47140345 0.49 [{'connected_gene': 'NETO2', 'score': 0.77}, {'connected_gene': 'GC16P047117', 'score': 0.34}]
chr16 GH16I047135 47135588 47139136 0.89 [{'connected_gene': 'NETO2', 'score': 0.44}, {'connected_gene': 'GC16P047117', 'score': 0.37}]
chr16 GH16I047091 47091849 47092045 0.22 [{'connected_gene': 'GC16M047059', 'score': 0.34}, {'connected_gene': 'GC16P047117', 'score': 0.31}, {'connected_gene': 'NETO2', 'score': 0.23}]
chr16 GH16I047079 47079990 47080139 0.31 [{'connected_gene': 'GC16M047059', 'score': 0.39}, {'connected_gene': 'GC16P047117', 'score': 0.28}, {'connected_gene': 'NETO2', 'score': 0.21}]