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
ENST00000374490	[[24128374, 24129054], [24130889, 24131015], [24134624, 24134813], [24137225, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151949]]	[[24128952, 24129054], [24130889, 24131015], [24134624, 24134813], [24137225, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151905]]
ENST00000436439	[[24128376, 24129054], [24130889, 24131015], [24134624, 24134813], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151918]]	[[24128952, 24129054], [24130889, 24131015], [24134624, 24134813], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151905]]
ENST00000374483	[[24128376, 24129054], [24130889, 24131015], [24134624, 24134813], [24137225, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24152573, 24152673], [24164553, 24165110]]	[[24128952, 24129054], [24130889, 24131015], [24134624, 24134813], [24137225, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147068]]
ENST00000374487	[[24128376, 24129054], [24130889, 24131015], [24134624, 24134813], [24137225, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24152573, 24152673], [24164553, 24165110]]	[[24164554, 24164788]]
ENST00000235958	[[24128399, 24129054], [24130889, 24131015], [24134624, 24134813], [24146999, 24147083], [24151845, 24151892]]	[[24128952, 24129054], [24130889, 24131015], [24134624, 24134813], [24146999, 24147083], [24151845, 24151892]]
ENST00000509389	[[24130077, 24131015], [24134624, 24134705], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151917]]	None
ENST00000496907	[[24133189, 24133530], [24133643, 24133775], [24134624, 24134813], [24137225, 24137289], [24140679, 24140811]]	None
ENST00000513148	[[24135776, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151906]]	None
ENST00000479458	[[24140321, 24140828], [24143164, 24143251]]	None
ENST00000498698	[[24142855, 24143260], [24143965, 24144023]]	None
NM_000191	[[24128366, 24129054], [24130889, 24131015], [24134624, 24134813], [24137225, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151949]]	[[24128952, 24129054], [24130889, 24131015], [24134624, 24134813], [24137225, 24137289], [24140679, 24140828], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151905]]
NM_001166059	[[24128366, 24129054], [24130889, 24131015], [24134624, 24134813], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151949]]	[[24128952, 24129054], [24130889, 24131015], [24134624, 24134813], [24143164, 24143260], [24143965, 24144073], [24146999, 24147083], [24151845, 24151905]]

Promoter

Chrom	Start	End	Description
chr1	24151893	24151902	CAGE_peak_3_at_HMGCL_5end
chr1	24151903	24151939	CAGE_peak_1_at_HMGCL_5end
chr1	24151960	24151967	CAGE_peak_2_at_HMGCL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I024432	24432320	24434187	0.31	[{'connected_gene': 'STPG1', 'score': 16.69}, {'connected_gene': 'NIPAL3', 'score': 16.38}, {'connected_gene': 'HMGCL', 'score': 6.68}, {'connected_gene': 'GC01P024477', 'score': 0.26}]
chr1	GH01I023807	23807611	23807760	0.6	[{'connected_gene': 'PITHD1', 'score': 12.41}, {'connected_gene': 'ELOA-AS1', 'score': 12.41}, {'connected_gene': 'PIR41142', 'score': 0.44}, {'connected_gene': 'GC01P023838', 'score': 0.29}, {'connected_gene': 'HMGCL', 'score': 0.29}]
chr1	GH01I023824	23824009	23826262	2.04	[{'connected_gene': 'HMGCL', 'score': 550.39}, {'connected_gene': 'FUCA1', 'score': 14.39}, {'connected_gene': 'LYPLA2', 'score': 11.89}, {'connected_gene': 'KDM1A', 'score': 9.72}, {'connected_gene': 'GC01P023838', 'score': 0.39}, {'connected_gene': 'LOC105376861', 'score': 0.39}, {'connected_gene': 'PIR41142', 'score': 0.34}]
chr1	GH01I023796	23796283	23802473	2.27	[{'connected_gene': 'GALE', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 12.29}, {'connected_gene': 'PIR41142', 'score': 0.77}, {'connected_gene': 'LOC105376860', 'score': 0.44}, {'connected_gene': 'HMGCL', 'score': 0.28}]
chr1	GH01I023809	23809311	23811414	1.38	[{'connected_gene': 'FUCA1', 'score': 25.74}, {'connected_gene': 'PITHD1', 'score': 11.66}, {'connected_gene': 'ELOA-AS1', 'score': 11.66}, {'connected_gene': 'PIR41142', 'score': 0.44}, {'connected_gene': 'GC01P023838', 'score': 0.31}, {'connected_gene': 'HMGCL', 'score': 0.31}]
chr1	GH01I023829	23829911	23830777	0.77	[{'connected_gene': 'FUCA1', 'score': 8.36}, {'connected_gene': 'HMGCL', 'score': 7.96}, {'connected_gene': 'GC01P023838', 'score': 0.44}, {'connected_gene': 'LOC105376861', 'score': 0.44}, {'connected_gene': 'PIR41142', 'score': 0.31}]
chr1	GH01I023726	23726589	23729681	1.12	[{'connected_gene': 'FUCA1', 'score': 8.46}, {'connected_gene': 'HMGCL', 'score': 4.71}, {'connected_gene': 'GC01P023723', 'score': 0.77}, {'connected_gene': 'GC01M023736', 'score': 0.44}]
chr1	GH01I023817	23817131	23817280	0.31	[{'connected_gene': 'FUCA1', 'score': 11.45}, {'connected_gene': 'PIR41142', 'score': 0.37}, {'connected_gene': 'GC01P023838', 'score': 0.34}, {'connected_gene': 'HMGCL', 'score': 0.34}]
chr1	GH01I023838	23838044	23839260	1.32	[{'connected_gene': 'GC01P023838', 'score': 550.77}, {'connected_gene': 'LOC105376861', 'score': 550.77}, {'connected_gene': 'HMGCL', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 27.0}, {'connected_gene': 'GC01M023866', 'score': 0.31}, {'connected_gene': 'PIR51704', 'score': 0.31}]