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
ENST00000366922	[[220267443, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220321380]]	[[220267774, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220320977]]
ENST00000302637	[[220267454, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220321376]]	[[220267558, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220320977]]
ENST00000490891	[[220287792, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220307956, 220308019], [220308134, 220308188]]	None
ENST00000488777	[[220310983, 220311385], [220312349, 220312481], [220313524, 220313560]]	None
ENST00000467924	[[220313522, 220313631], [220315144, 220315290], [220316285, 220316686]]	None
NM_018060	[[220267454, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220321383]]	[[220267558, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220320977]]

Promoter

Chrom	Start	End	Description
chr1	220267429	220267510	CAGE_peak_1_at_IARS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I220158	220158698	220160410	0.31	[{'connected_gene': 'IARS2', 'score': 12.65}, {'connected_gene': 'MIR215', 'score': 12.37}, {'connected_gene': 'MIR194-1', 'score': 12.37}, {'connected_gene': 'EPRS', 'score': 10.46}, {'connected_gene': 'RAB3GAP2', 'score': 6.86}, {'connected_gene': 'GC01P220165', 'score': 0.44}, {'connected_gene': 'RPS15AP12', 'score': 0.37}]
chr1	GH01I220114	220114744	220125848	1.22	[{'connected_gene': 'EPRS', 'score': 16.61}, {'connected_gene': 'RPS15AP12', 'score': 13.7}, {'connected_gene': 'ZC3H11B', 'score': 12.57}, {'connected_gene': 'RIMKLBP2', 'score': 10.4}, {'connected_gene': 'RAB3GAP2', 'score': 4.49}, {'connected_gene': 'ENSG00000272823', 'score': 4.21}, {'connected_gene': 'GC01P220118', 'score': 0.77}, {'connected_gene': 'MIR215', 'score': 0.77}, {'connected_gene': 'MIR194-1', 'score': 0.77}, {'connected_gene': 'IARS2', 'score': 0.31}]
chr1	GH01I220113	220113113	220114009	0.6	[{'connected_gene': 'LOC105373475', 'score': 550.77}, {'connected_gene': 'EPRS', 'score': 16.88}, {'connected_gene': 'RPS15AP12', 'score': 12.82}, {'connected_gene': 'MIR215', 'score': 0.77}, {'connected_gene': 'IARS2', 'score': 0.37}]
chr1	GH01I220136	220136522	220138325	0.4	[{'connected_gene': 'RPS15AP12', 'score': 0.44}, {'connected_gene': 'MIR194-1', 'score': 0.37}, {'connected_gene': 'IARS2', 'score': 0.26}]
chr1	GH01I220092	220092968	220095438	2.01	[{'connected_gene': 'GC01M220094', 'score': 550.77}, {'connected_gene': 'IARS2', 'score': 550.77}, {'connected_gene': 'EPRS', 'score': 5.9}]