PsyMuKB

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
ENST00000555837	[[54863566, 54863795], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669]]	None
ENST00000335183	[[54863672, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886936]]	[[54863786, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886796]]
ENST00000543789	[[54863696, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54884565, 54884669]]	[[54863786, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54884565, 54884596]]
ENST00000442975	[[54863712, 54863795], [54866611, 54866630], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886930]]	[[54863786, 54863795], [54866611, 54866630], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886796]]
ENST00000458126	[[54863717, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884568, 54884669], [54886709, 54886936]]	[[54863786, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884568, 54884669], [54886709, 54886796]]
ENST00000556102	[[54863720, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54884931, 54885024], [54886709, 54886936]]	[[54863786, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54884931, 54884991]]
ENST00000541304	[[54863746, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54880323, 54880937]]	[[54863786, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54880323, 54880348]]
ENST00000216414	[[54866606, 54866694], [54868241, 54868297], [54884565, 54884669], [54886709, 54886834]]	None
ENST00000556305	[[54866643, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54884931, 54885132]]	None
ENST00000395577	[[54875281, 54875291], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886932]]	[[54875281, 54875291], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886796]]
NM_001330173	[[54863585, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54884931, 54885024], [54886709, 54886936]]	[[54863786, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54884931, 54884991]]
NM_001130851	[[54863672, 54863795], [54866611, 54866630], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886936]]	[[54863786, 54863795], [54866611, 54866630], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886796]]
NM_005192	[[54863672, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886936]]	[[54863786, 54863795], [54866611, 54866694], [54868241, 54868297], [54875462, 54875507], [54878201, 54878424], [54882616, 54882648], [54884565, 54884669], [54886709, 54886796]]

Promoter

Chrom	Start	End	Description
chr14	54863667	54863678	CAGE_peak_3_at_CDKN3_5end
chr14	54863682	54863738	CAGE_peak_1_at_CDKN3_5end
chr14	54863739	54863769	CAGE_peak_2_at_CDKN3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I054395	54395883	54398618	2.01	[{'connected_gene': 'CDKN3', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 28.06}, {'connected_gene': 'SOCS4', 'score': 14.16}, {'connected_gene': 'WDHD1', 'score': 13.83}, {'connected_gene': 'BMP4', 'score': 11.3}, {'connected_gene': 'CNIH1', 'score': 7.68}, {'connected_gene': 'GC14P054145', 'score': 0.07}]
chr14	GH14I054420	54420603	54420732	0.46	[{'connected_gene': 'CDKN3', 'score': 0.34}, {'connected_gene': 'CNIH1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054421	54420401	54420601	0.46	[{'connected_gene': 'CDKN3', 'score': 0.34}, {'connected_gene': 'CNIH1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054422	54420800	54421000	0.49	[{'connected_gene': 'CDKN3', 'score': 0.34}, {'connected_gene': 'CNIH1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054439	54439769	54442244	2.02	[{'connected_gene': 'CNIH1', 'score': 562.1}, {'connected_gene': 'ATG14', 'score': 13.36}, {'connected_gene': 'WDHD1', 'score': 10.53}, {'connected_gene': 'CDKN3', 'score': 0.26}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054438	54438801	54439000	0.6	[{'connected_gene': 'CNIH1', 'score': 0.77}, {'connected_gene': 'CDKN3', 'score': 0.26}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054434	54434385	54437291	1.13	[{'connected_gene': 'CNIH1', 'score': 0.44}, {'connected_gene': 'CDKN3', 'score': 0.28}, {'connected_gene': 'GC14P054145', 'score': 0.06}]