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
ENST00000374855 [[104182859, 104184186], [104187124, 104187324], [104187734, 104187909], [104188836, 104188920], [104189763, 104189924], [104190750, 104190805], [104192036, 104192248], [104193057, 104193179], [104197990, 104198105]] [[104184090, 104184186], [104187124, 104187324], [104187734, 104187909], [104188836, 104188920], [104189763, 104189924], [104190750, 104190805], [104192036, 104192248], [104193057, 104193169]]
ENST00000468981 [[104187842, 104187909], [104188836, 104188920], [104192090, 104192157]] None
NM_000035 [[104182841, 104184186], [104187124, 104187324], [104187734, 104187909], [104188836, 104188920], [104189763, 104189924], [104190750, 104190805], [104192036, 104192248], [104193057, 104193179], [104197990, 104198062]] [[104184090, 104184186], [104187124, 104187324], [104187734, 104187909], [104188836, 104188920], [104189763, 104189924], [104190750, 104190805], [104192036, 104192248], [104193057, 104193169]]
Promoter
Chrom Start End Description
chr9 104187769 104187778 CAGE_peak_3_at_ALDOB_5end
chr9 104187788 104187791 CAGE_peak_5_at_ALDOB_5end
chr9 104187850 104187863 CAGE_peak_2_at_ALDOB_5end
chr9 104187899 104187908 CAGE_peak_4_at_ALDOB_5end
chr9 104198042 104198062 CAGE_peak_1_at_ALDOB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I101452 101452753 101454568 0.51 [{'connected_gene': 'TMEM246', 'score': 11.08}, {'connected_gene': 'RNF20', 'score': 11.07}, {'connected_gene': 'ZNF189', 'score': 10.81}, {'connected_gene': 'MRPL50', 'score': 10.8}, {'connected_gene': 'ALDOB', 'score': 8.51}, {'connected_gene': 'LOC105376184', 'score': 0.39}, {'connected_gene': 'TMEM246-AS1', 'score': 0.39}]
chr9 GH09I101427 101427581 101428870 0.82 [{'connected_gene': 'ZNF189', 'score': 6.76}, {'connected_gene': 'GC09P101420', 'score': 0.44}, {'connected_gene': 'ALDOB', 'score': 0.44}]
chr9 GH09I101421 101421411 101422330 0.85 [{'connected_gene': 'ZNF189', 'score': 8.66}, {'connected_gene': 'ALDOB', 'score': 7.97}, {'connected_gene': 'GC09P101420', 'score': 0.77}]
chr9 GH09I101430 101430945 101451831 2.43 [{'connected_gene': 'ALDOB', 'score': 558.57}, {'connected_gene': 'LOC105376184', 'score': 550.77}, {'connected_gene': 'ZNF189', 'score': 16.37}, {'connected_gene': 'TMEM246', 'score': 11.36}, {'connected_gene': 'RNF20', 'score': 11.36}, {'connected_gene': 'MRPL50', 'score': 11.18}, {'connected_gene': 'TMEM246-AS1', 'score': 10.91}, {'connected_gene': 'BAAT', 'score': 5.56}]
chr9 GH09I101418 101418861 101419786 0.43 [{'connected_gene': 'GC09P101420', 'score': 550.77}, {'connected_gene': 'ZNF189', 'score': 18.19}, {'connected_gene': 'MRPL50', 'score': 11.23}, {'connected_gene': 'ALDOB', 'score': 5.08}]