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
ENST00000264313	[[48343338, 48344145], [48371865, 48372014], [48379912, 48380077], [48381706, 48381865], [48384584, 48384944], [48385663, 48385801], [48422141, 48422460], [48424027, 48428229]]	[[48343756, 48344145], [48371865, 48372014], [48379912, 48380077], [48381706, 48381865], [48384584, 48384944], [48385663, 48385801], [48422141, 48422460], [48424027, 48424094]]
ENST00000506375	[[48371865, 48372014], [48379912, 48380077], [48381706, 48381741]]	None
ENST00000512093	[[48379917, 48380077], [48381706, 48381865], [48384584, 48384944], [48385663, 48385801], [48396592, 48396670], [48422141, 48422460], [48424027, 48427032]]	[[48379953, 48380077], [48381706, 48381865], [48384584, 48384944], [48385663, 48385801], [48396592, 48396670], [48422141, 48422460], [48424027, 48424094]]
ENST00000505131	[[48381843, 48381865], [48384584, 48384656], [48384744, 48384944], [48385663, 48385801], [48389382, 48389483], [48396592, 48396647]]	[[48381852, 48381865], [48384584, 48384656], [48384744, 48384836]]
ENST00000510595	[[48385694, 48385801], [48396592, 48396670], [48422141, 48422506]]	[[48385694, 48385801], [48396592, 48396670], [48422141, 48422464]]
NM_020846	[[48343612, 48344145], [48371865, 48372014], [48379912, 48380077], [48381706, 48381865], [48384584, 48384944], [48385663, 48385801], [48422141, 48422460], [48424027, 48428215]]	[[48343756, 48344145], [48371865, 48372014], [48379912, 48380077], [48381706, 48381865], [48384584, 48384944], [48385663, 48385801], [48422141, 48422460], [48424027, 48424094]]

Promoter

Chrom	Start	End	Description
chr4	48343391	48343414	CAGE_peak_6_at_SLAIN2_5end
chr4	48343435	48343476	CAGE_peak_4_at_SLAIN2_5end
chr4	48343479	48343513	CAGE_peak_2_at_SLAIN2_5end
chr4	48343523	48343598	CAGE_peak_1_at_SLAIN2_5end
chr4	48343683	48343710	CAGE_peak_3_at_SLAIN2_5end
chr4	48384736	48384756	CAGE_peak_10_at_SLAIN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I048260	48260879	48262210	0.43	[{'connected_gene': 'TXK', 'score': 10.61}, {'connected_gene': 'SLAIN2', 'score': 4.94}, {'connected_gene': 'OCIAD1', 'score': 4.62}, {'connected_gene': 'SLC10A4', 'score': 4.52}, {'connected_gene': 'TEC', 'score': 0.44}, {'connected_gene': 'GC04M048219', 'score': 0.26}]
chr4	GH04I048202	48202415	48206118	1.18	[{'connected_gene': 'TXK', 'score': 10.55}, {'connected_gene': 'SLAIN2', 'score': 6.32}, {'connected_gene': 'TEC', 'score': 6.15}, {'connected_gene': 'PIR56443', 'score': 0.77}, {'connected_gene': 'PIR56753', 'score': 0.39}]
chr4	GH04I048058	48058359	48059277	0.78	[{'connected_gene': 'TXK', 'score': 15.93}, {'connected_gene': 'RNU6-838P', 'score': 10.73}, {'connected_gene': 'NIPAL1', 'score': 9.2}, {'connected_gene': 'SLAIN2', 'score': 4.88}, {'connected_gene': 'CNGA1', 'score': 0.26}, {'connected_gene': 'GC04P048104', 'score': 0.25}]
chr4	GH04I048234	48234546	48235397	0.63	[{'connected_gene': 'SLAIN2', 'score': 12.93}, {'connected_gene': 'TXK', 'score': 10.44}, {'connected_gene': 'TEC', 'score': 5.18}, {'connected_gene': 'GC04M048219', 'score': 0.37}]
chr4	GH04I048380	48380402	48381200	0.38	[{'connected_gene': 'SLAIN2', 'score': 7.73}, {'connected_gene': 'GC04M048339', 'score': 0.28}, {'connected_gene': 'SLC10A4', 'score': 0.15}]
chr4	GH04I048336	48336820	48343753	2.26	[{'connected_gene': 'SLAIN2', 'score': 558.19}, {'connected_gene': 'TEC', 'score': 14.14}, {'connected_gene': 'ZAR1', 'score': 10.32}, {'connected_gene': 'TXK', 'score': 10.06}, {'connected_gene': 'SLC10A4', 'score': 5.85}, {'connected_gene': 'GC04M048339', 'score': 0.77}, {'connected_gene': 'GC04M048291', 'score': 0.28}]
chr4	GH04I048201	48201004	48202140	0.58	[{'connected_gene': 'SLAIN2', 'score': 6.4}, {'connected_gene': 'PIR56443', 'score': 0.44}, {'connected_gene': 'PIR56753', 'score': 0.39}, {'connected_gene': 'TEC', 'score': 0.2}]
chr4	GH04I048775	48775018	48781849	2.44	[{'connected_gene': 'FRYL', 'score': 550.77}, {'connected_gene': 'OCIAD1', 'score': 24.27}, {'connected_gene': 'SLAIN2', 'score': 23.64}, {'connected_gene': 'NFXL1', 'score': 16.75}, {'connected_gene': 'TEC', 'score': 10.76}, {'connected_gene': 'SLC10A4', 'score': 6.27}, {'connected_gene': 'GC04P048658', 'score': 0.13}]
chr4	GH04I048359	48359661	48361843	0.69	[{'connected_gene': 'SLC10A4', 'score': 8.84}, {'connected_gene': 'SLAIN2', 'score': 7.78}, {'connected_gene': 'COMMD8', 'score': 4.6}, {'connected_gene': 'GC04M048339', 'score': 0.37}]
chr4	GH04I048375	48375311	48376693	1.03	[{'connected_gene': 'SLC10A4', 'score': 8.97}, {'connected_gene': 'SLAIN2', 'score': 0.29}, {'connected_gene': 'GC04M048339', 'score': 0.29}]
chr4	GH04I047926	47926284	47927391	0.94	[{'connected_gene': 'CNGA1', 'score': 26.45}, {'connected_gene': 'NFXL1', 'score': 20.54}, {'connected_gene': 'SLAIN2', 'score': 5.24}, {'connected_gene': 'NIPAL1', 'score': 0.39}, {'connected_gene': 'LOC101927157', 'score': 0.39}, {'connected_gene': 'PIR42399', 'score': 0.18}]
chr4	GH04I048334	48334772	48335420	0.75	[{'connected_gene': 'TEC', 'score': 14.53}, {'connected_gene': 'TXK', 'score': 10.28}, {'connected_gene': 'RNU6-838P', 'score': 9.83}, {'connected_gene': 'SLAIN2', 'score': 5.84}, {'connected_gene': 'GC04M048291', 'score': 0.29}]
chr4	GH04I048209	48209804	48213451	1.32	[{'connected_gene': 'TEC', 'score': 12.15}, {'connected_gene': 'SLAIN2', 'score': 6.34}, {'connected_gene': 'NFXL1', 'score': 4.71}, {'connected_gene': 'PIR56443', 'score': 0.77}, {'connected_gene': 'GC04M048219', 'score': 0.44}]
chr4	GH04I048316	48316001	48316401	0.99	[{'connected_gene': 'TEC', 'score': 11.21}, {'connected_gene': 'ZAR1', 'score': 10.83}, {'connected_gene': 'TXK', 'score': 10.62}, {'connected_gene': 'SLC10A4', 'score': 4.56}, {'connected_gene': 'GC04M048291', 'score': 0.39}, {'connected_gene': 'SLAIN2', 'score': 0.31}]
chr4	GH04I048124	48124261	48124624	0.42	[{'connected_gene': 'TEC', 'score': 14.27}, {'connected_gene': 'ZAR1', 'score': 3.22}, {'connected_gene': 'SLAIN2', 'score': 2.85}, {'connected_gene': 'TXK', 'score': 0.44}, {'connected_gene': 'ENSG00000283499', 'score': 0.37}]
chr4	GH04I048329	48329276	48333711	1.03	[{'connected_gene': 'TEC', 'score': 14.57}, {'connected_gene': 'NFXL1', 'score': 11.99}, {'connected_gene': 'TXK', 'score': 10.67}, {'connected_gene': 'RNU6-838P', 'score': 9.83}, {'connected_gene': 'SLC10A4', 'score': 6.04}, {'connected_gene': 'SLAIN2', 'score': 4.78}, {'connected_gene': 'GC04M048291', 'score': 0.31}]
chr4	GH04I048193	48193468	48193879	0.68	[{'connected_gene': 'TEC', 'score': 5.97}, {'connected_gene': 'NFXL1', 'score': 4.25}, {'connected_gene': 'SLAIN2', 'score': 1.28}, {'connected_gene': 'PIR56753', 'score': 0.77}, {'connected_gene': 'PIR56443', 'score': 0.39}]
chr4	GH04I048267	48267526	48271587	2.22	[{'connected_gene': 'TEC', 'score': 567.34}, {'connected_gene': 'LOC105374445', 'score': 550.77}, {'connected_gene': 'SLAIN2', 'score': 4.76}, {'connected_gene': 'GC04M048219', 'score': 0.25}]