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
ENST00000413330	[[92631708, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660425], [92661999, 92662101], [92662948, 92663033], [92665058, 92668312]]	[[92631743, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660425], [92661999, 92662101], [92662948, 92663019]]
ENST00000470933	[[92656082, 92656149], [92660326, 92660425], [92661999, 92662101], [92662948, 92663033], [92668039, 92668310]]	None
ENST00000371703	[[92631472, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92661947]]	[[92631743, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660436]]
ENST00000487998	[[92631729, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660519]]	None
ENST00000277882	[[92631739, 92631891], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149]]	[[92631743, 92631891], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149]]
ENST00000414836	[[92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655636, 92655674], [92656069, 92656149], [92660326, 92660523]]	[[92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655636, 92655674], [92656069, 92656149], [92660326, 92660436]]
ENST00000466462	[[92635360, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92660326, 92660604]]	None
ENST00000480406	[[92654529, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660423], [92665058, 92665395]]	None
ENST00000489806	[[92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660425], [92661999, 92662101], [92662948, 92663033], [92665058, 92665822]]	None
ENST00000479678	[[92655424, 92655674], [92656069, 92656149], [92660326, 92660523]]	None
NM_001104546	[[92631708, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660425], [92661999, 92662101], [92662948, 92663033], [92665058, 92668312]]	[[92631743, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660425], [92661999, 92662101], [92662948, 92663019]]
NM_006413	[[92631708, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92661947]]	[[92631743, 92631825], [92634625, 92634681], [92635314, 92635371], [92635780, 92635855], [92638819, 92638891], [92645568, 92645658], [92654531, 92654648], [92655210, 92655240], [92655636, 92655674], [92656069, 92656149], [92660326, 92660436]]

Promoter

Chrom	Start	End	Description
chr10	92631715	92631746	CAGE_peak_1_at_RPP30_5end
chr10	92654428	92654434	CAGE_peak_5_at_RPP30_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I090855	90855586	90860273	2.02	[{'connected_gene': 'HTR7', 'score': 559.88}, {'connected_gene': 'HECTD2', 'score': 4.12}, {'connected_gene': 'RPP30', 'score': 0.39}]
chr10	GH10I090911	90911184	90913273	1.17	[{'connected_gene': 'HTR7', 'score': 15.76}, {'connected_gene': 'RPP30', 'score': 10.87}, {'connected_gene': 'GC10M090914', 'score': 0.77}, {'connected_gene': 'ANKRD1', 'score': 0.44}, {'connected_gene': 'PIR41318', 'score': 0.39}]
chr10	GH10I090751	90751504	90751653	0.64	[{'connected_gene': 'HTR7', 'score': 17.62}, {'connected_gene': 'RPP30', 'score': 12.32}, {'connected_gene': 'GC10M090738', 'score': 0.39}, {'connected_gene': 'GC10M090739', 'score': 0.39}, {'connected_gene': 'GC10M090736', 'score': 0.39}, {'connected_gene': 'GC10M090737', 'score': 0.39}, {'connected_gene': 'PIR51660', 'score': 0.29}]
chr10	GH10I090908	90908506	90911157	0.31	[{'connected_gene': 'HTR7', 'score': 16.09}, {'connected_gene': 'RPP30', 'score': 10.89}, {'connected_gene': 'GC10M090914', 'score': 0.44}, {'connected_gene': 'PIR41318', 'score': 0.39}]
chr10	GH10I090741	90741681	90742252	0.38	[{'connected_gene': 'HTR7', 'score': 15.21}, {'connected_gene': 'RPP30', 'score': 10.83}, {'connected_gene': 'GC10M090738', 'score': 0.44}, {'connected_gene': 'GC10M090739', 'score': 0.44}, {'connected_gene': 'GC10M090736', 'score': 0.44}, {'connected_gene': 'GC10M090737', 'score': 0.44}, {'connected_gene': 'PIR51660', 'score': 0.26}]
chr10	GH10I090833	90833930	90835060	0.4	[{'connected_gene': 'HTR7', 'score': 18.8}, {'connected_gene': 'RPP30', 'score': 11.08}, {'connected_gene': 'PIR38191', 'score': 0.77}]
chr10	GH10I090822	90822564	90822713	0.31	[{'connected_gene': 'HECTD2', 'score': 12.15}, {'connected_gene': 'HTR7', 'score': 11.53}, {'connected_gene': 'RPP30', 'score': 11.32}, {'connected_gene': 'PIR38191', 'score': 0.44}, {'connected_gene': 'PIR51660', 'score': 0.28}]
chr10	GH10I091607	91607455	91610082	1.7	[{'connected_gene': 'HECTD2', 'score': 62.06}, {'connected_gene': 'RPP30', 'score': 59.23}, {'connected_gene': 'BTAF1', 'score': 55.96}, {'connected_gene': 'PPP1R3C', 'score': 23.58}, {'connected_gene': 'FGFBP3', 'score': 12.61}, {'connected_gene': 'TNKS2-AS1', 'score': 11.09}, {'connected_gene': 'MARK2P9', 'score': 9.75}, {'connected_gene': 'TNKS2', 'score': 6.52}, {'connected_gene': 'HECTD2-AS1', 'score': 0.77}, {'connected_gene': 'LOC105378433', 'score': 0.22}]
chr10	GH10I091408	91408912	91411948	2.03	[{'connected_gene': 'HECTD2', 'score': 550.77}, {'connected_gene': 'RPP30', 'score': 11.65}, {'connected_gene': 'ANKRD1', 'score': 4.81}, {'connected_gene': 'GC10M091340', 'score': 0.34}, {'connected_gene': 'HECTD2-AS1', 'score': 0.08}]
chr10	GH10I090136	90136844	90136933	0.7	[{'connected_gene': 'RPP30', 'score': 32.47}, {'connected_gene': 'KIF20B', 'score': 18.54}, {'connected_gene': 'ENSG00000235100', 'score': 16.16}, {'connected_gene': 'ENSG00000240996', 'score': 9.92}, {'connected_gene': 'GC10M090146', 'score': 0.44}, {'connected_gene': 'PIR49337', 'score': 0.44}, {'connected_gene': 'GC10M090120', 'score': 0.44}]
chr10	GH10I091587	91587553	91594885	1.79	[{'connected_gene': 'RPP30', 'score': 29.89}, {'connected_gene': 'BTAF1', 'score': 16.82}, {'connected_gene': 'HECTD2', 'score': 16.26}, {'connected_gene': 'TNKS2-AS1', 'score': 14.68}, {'connected_gene': 'PPP1R3C', 'score': 6.1}, {'connected_gene': 'TNKS2', 'score': 4.63}, {'connected_gene': 'HECTD2-AS1', 'score': 0.34}, {'connected_gene': 'LOC105378433', 'score': 0.28}]
chr10	GH10I090775	90775185	90776093	0.63	[{'connected_gene': 'RPP30', 'score': 11.27}, {'connected_gene': 'HTR7', 'score': 11.04}, {'connected_gene': 'PIR51660', 'score': 0.39}, {'connected_gene': 'GC10M090738', 'score': 0.28}, {'connected_gene': 'GC10M090739', 'score': 0.28}, {'connected_gene': 'GC10M090736', 'score': 0.28}, {'connected_gene': 'GC10M090737', 'score': 0.28}]
chr10	GH10I090846	90846298	90851322	0.86	[{'connected_gene': 'RPP30', 'score': 11.71}, {'connected_gene': 'HTR7', 'score': 10.51}, {'connected_gene': 'PIR38191', 'score': 0.37}]
chr10	GH10I090870	90870904	90873117	1.97	[{'connected_gene': 'RPP30', 'score': 550.77}, {'connected_gene': 'HECTD2', 'score': 4.58}, {'connected_gene': 'ENSG00000222305', 'score': 0.44}]
chr10	GH10I090884	90884003	90886414	0.43	[{'connected_gene': 'PIR59702', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 10.76}, {'connected_gene': 'ANKRD1', 'score': 10.41}, {'connected_gene': 'RNU6-740P', 'score': 10.41}, {'connected_gene': 'PIR41318', 'score': 0.39}, {'connected_gene': 'RPP30', 'score': 0.39}]
chr10	GH10I090880	90880184	90880333	0.6	[{'connected_gene': 'ENSG00000222305', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 10.69}, {'connected_gene': 'PIR59702', 'score': 0.77}, {'connected_gene': 'RPP30', 'score': 0.44}]
chr10	GH10I090964	90964010	90966372	0.56	[{'connected_gene': 'ENSG00000225519', 'score': 18.89}, {'connected_gene': 'ANKRD1', 'score': 10.92}, {'connected_gene': 'RNU6-740P', 'score': 10.92}, {'connected_gene': 'RPP30', 'score': 5.33}, {'connected_gene': 'GC10M090939', 'score': 0.39}]