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
ENST00000559313	[[40625957, 40627901], [40627984, 40628027], [40628774, 40628865], [40628960, 40629014], [40629588, 40629647], [40629924, 40630094], [40630735, 40630861], [40630948, 40631104], [40631712, 40631820], [40632105, 40632216], [40633008, 40633168]]	[[40627358, 40627901], [40627984, 40628027], [40628774, 40628865], [40628960, 40629014], [40629588, 40629647], [40629924, 40630094], [40630735, 40630861], [40630948, 40631104], [40631712, 40631820], [40632105, 40632216], [40633008, 40633152]]
ENST00000558912	[[40628759, 40629647], [40629924, 40630094], [40630735, 40630861], [40630948, 40631820], [40632105, 40632839]]	None
ENST00000557973	[[40631788, 40631890], [40632105, 40632216], [40633008, 40633121]]	None
ENST00000397536	[[40623652, 40627901], [40627984, 40628027], [40628774, 40628865], [40628960, 40629014], [40629588, 40629647], [40629924, 40630094], [40630283, 40630334]]	[[40627358, 40627901], [40627984, 40628027], [40628774, 40628865], [40628960, 40629014], [40629588, 40629647], [40629924, 40630094], [40630283, 40630298]]
ENST00000382688	[[40623652, 40627901], [40627984, 40628027], [40628774, 40628865], [40628960, 40629014], [40629588, 40629647], [40629924, 40630094], [40630735, 40630861], [40630948, 40631177]]	None
ENST00000558858	[[40627833, 40627901], [40627984, 40628027], [40628960, 40629014], [40629588, 40629647], [40629924, 40630241]]	[[40627833, 40627901], [40627984, 40628020]]
ENST00000560922	[[40630050, 40630094], [40630735, 40630861], [40630948, 40631104], [40631712, 40631820], [40632105, 40632243]]	[[40630050, 40630094], [40630735, 40630861], [40630948, 40631104], [40631712, 40631820], [40632105, 40632192]]

Promoter

Chrom	Start	End	Description
chr15	40631136	40631203	CAGE_peak_2_at_C15orf52_5end
chr15	40632424	40632439	CAGE_peak_6_at_C15orf52_5end
chr15	40632462	40632480	CAGE_peak_5_at_C15orf52_5end
chr15	40632500	40632514	CAGE_peak_4_at_C15orf52_5end
chr15	40633101	40633171	CAGE_peak_1_at_C15orf52_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I040387	40387446	40390901	0.92	[{'connected_gene': 'KNSTRN', 'score': 62.73}, {'connected_gene': 'DISP2', 'score': 28.24}, {'connected_gene': 'IVD', 'score': 23.92}, {'connected_gene': 'PHGR1', 'score': 11.73}, {'connected_gene': 'CCDC9B', 'score': 11.7}, {'connected_gene': 'RNA5SP392', 'score': 11.68}, {'connected_gene': 'CHST14', 'score': 10.72}, {'connected_gene': 'RPL9P27', 'score': 10.7}, {'connected_gene': 'RPLP0P10', 'score': 10.44}, {'connected_gene': 'PLCB2', 'score': 10.44}, {'connected_gene': 'ANKRD63', 'score': 10.31}, {'connected_gene': 'C15orf56', 'score': 9.86}, {'connected_gene': 'PAK6', 'score': 9.83}, {'connected_gene': 'CCDC32', 'score': 7.76}, {'connected_gene': 'GC15M040375', 'score': 0.44}]
chr15	GH15I040397	40397802	40399329	0.76	[{'connected_gene': 'DISP2', 'score': 30.56}, {'connected_gene': 'IVD', 'score': 23.95}, {'connected_gene': 'PHGR1', 'score': 11.57}, {'connected_gene': 'CCDC9B', 'score': 11.54}, {'connected_gene': 'RNA5SP392', 'score': 11.53}, {'connected_gene': 'RPLP0P10', 'score': 10.82}, {'connected_gene': 'PLCB2', 'score': 10.81}, {'connected_gene': 'ANKRD63', 'score': 10.64}, {'connected_gene': 'CHST14', 'score': 10.23}, {'connected_gene': 'RPL9P27', 'score': 10.21}, {'connected_gene': 'GC15M040375', 'score': 0.77}]
chr15	GH15I040407	40407480	40407629	0.38	[{'connected_gene': 'PHGR1', 'score': 11.64}, {'connected_gene': 'CCDC9B', 'score': 11.63}, {'connected_gene': 'RNA5SP392', 'score': 11.6}, {'connected_gene': 'KNSTRN', 'score': 11.55}, {'connected_gene': 'RPLP0P10', 'score': 11.12}, {'connected_gene': 'PLCB2', 'score': 11.11}, {'connected_gene': 'DISP2', 'score': 10.96}, {'connected_gene': 'CHST14', 'score': 10.63}, {'connected_gene': 'RPL9P27', 'score': 10.61}, {'connected_gene': 'SRP14-AS1', 'score': 9.57}, {'connected_gene': 'SRP14', 'score': 9.57}, {'connected_gene': 'GC15P040411', 'score': 0.77}, {'connected_gene': 'IVD', 'score': 0.77}, {'connected_gene': 'PIR52889', 'score': 0.77}]
chr15	GH15I040326	40326722	40355405	1.95	[{'connected_gene': 'CCDC9B', 'score': 558.21}, {'connected_gene': 'PHGR1', 'score': 550.44}, {'connected_gene': 'KNSTRN', 'score': 49.0}, {'connected_gene': 'DISP2', 'score': 32.24}, {'connected_gene': 'IVD', 'score': 21.8}, {'connected_gene': 'ANKRD63', 'score': 11.7}, {'connected_gene': 'RPLP0P10', 'score': 11.5}, {'connected_gene': 'PLCB2', 'score': 11.49}, {'connected_gene': 'C15orf56', 'score': 10.47}, {'connected_gene': 'PAK6', 'score': 10.43}, {'connected_gene': 'CHST14', 'score': 10.36}, {'connected_gene': 'RPL9P27', 'score': 10.34}, {'connected_gene': 'ENSG00000259198', 'score': 10.3}, {'connected_gene': 'INAFM2', 'score': 9.44}, {'connected_gene': 'ENSG00000259211', 'score': 5.25}, {'connected_gene': 'RNA5SP392', 'score': 0.44}]
chr15	GH15I040408	40407163	40407385	0.38	[{'connected_gene': 'IVD', 'score': 581.01}, {'connected_gene': 'KNSTRN', 'score': 11.74}, {'connected_gene': 'PHGR1', 'score': 11.64}, {'connected_gene': 'CCDC9B', 'score': 11.63}, {'connected_gene': 'RNA5SP392', 'score': 11.6}, {'connected_gene': 'DISP2', 'score': 11.56}, {'connected_gene': 'RPLP0P10', 'score': 11.12}, {'connected_gene': 'PLCB2', 'score': 11.11}, {'connected_gene': 'CHST14', 'score': 10.63}, {'connected_gene': 'RPL9P27', 'score': 10.61}, {'connected_gene': 'SRP14-AS1', 'score': 9.57}, {'connected_gene': 'SRP14', 'score': 9.57}, {'connected_gene': 'GC15P040411', 'score': 0.77}, {'connected_gene': 'PIR52889', 'score': 0.77}]
chr15	GH15I040405	40405012	40406869	1.9	[{'connected_gene': 'IVD', 'score': 550.77}, {'connected_gene': 'INO80', 'score': 23.25}, {'connected_gene': 'BAHD1', 'score': 20.76}, {'connected_gene': 'ENSG00000259536', 'score': 12.58}, {'connected_gene': 'KNSTRN', 'score': 11.74}, {'connected_gene': 'DISP2', 'score': 11.56}, {'connected_gene': 'PHGR1', 'score': 11.29}, {'connected_gene': 'CCDC9B', 'score': 11.27}, {'connected_gene': 'RNA5SP392', 'score': 11.25}, {'connected_gene': 'RPLP0P10', 'score': 10.82}, {'connected_gene': 'PLCB2', 'score': 10.81}, {'connected_gene': 'CCDC32', 'score': 9.84}, {'connected_gene': 'GC15P040411', 'score': 0.77}, {'connected_gene': 'PIR52889', 'score': 0.77}]
chr15	GH15I040435	40435118	40442914	2.38	[{'connected_gene': 'BAHD1', 'score': 550.77}, {'connected_gene': 'KNSTRN', 'score': 54.86}, {'connected_gene': 'DISP2', 'score': 34.9}, {'connected_gene': 'IVD', 'score': 25.28}, {'connected_gene': 'CCDC32', 'score': 19.13}, {'connected_gene': 'CHST14', 'score': 11.82}, {'connected_gene': 'RPL9P27', 'score': 11.79}, {'connected_gene': 'PHGR1', 'score': 11.44}, {'connected_gene': 'CCDC9B', 'score': 11.42}, {'connected_gene': 'RNA5SP392', 'score': 11.41}, {'connected_gene': 'RPLP0P10', 'score': 10.5}, {'connected_gene': 'PLCB2', 'score': 10.49}, {'connected_gene': 'PIR57787', 'score': 0.37}, {'connected_gene': 'GC15P040422', 'score': 0.37}]
chr15	GH15I040291	40291047	40291969	1.26	[{'connected_gene': 'RNA5SP392', 'score': 11.29}, {'connected_gene': 'CCDC9B', 'score': 11.27}, {'connected_gene': 'PHGR1', 'score': 11.25}, {'connected_gene': 'DISP2', 'score': 11.01}, {'connected_gene': 'C15orf56', 'score': 10.79}, {'connected_gene': 'PAK6', 'score': 10.71}, {'connected_gene': 'PLCB2', 'score': 9.34}, {'connected_gene': 'KNSTRN', 'score': 6.17}, {'connected_gene': 'PLCB2-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000273855', 'score': 0.44}]
chr15	GH15I040322	40322069	40325329	1.72	[{'connected_gene': 'INAFM2', 'score': 559.44}, {'connected_gene': 'KNSTRN', 'score': 27.5}, {'connected_gene': 'INO80', 'score': 13.9}, {'connected_gene': 'ENSG00000259211', 'score': 13.86}, {'connected_gene': 'BAHD1', 'score': 11.81}, {'connected_gene': 'DNAJC17', 'score': 11.7}, {'connected_gene': 'ANKRD63', 'score': 11.57}, {'connected_gene': 'DISP2', 'score': 11.1}, {'connected_gene': 'ENSG00000259198', 'score': 11.01}, {'connected_gene': 'C15orf56', 'score': 10.71}, {'connected_gene': 'PAK6', 'score': 10.66}, {'connected_gene': 'CCDC9B', 'score': 9.86}, {'connected_gene': 'IVD', 'score': 5.7}, {'connected_gene': 'RNA5SP392', 'score': 0.44}]
chr15	GH15I040420	40420146	40422474	1.26	[{'connected_gene': 'GC15P040422', 'score': 550.77}, {'connected_gene': 'PIR57787', 'score': 550.77}, {'connected_gene': 'KNSTRN', 'score': 60.47}, {'connected_gene': 'IVD', 'score': 32.01}, {'connected_gene': 'DISP2', 'score': 25.21}, {'connected_gene': 'PHGR1', 'score': 12.17}, {'connected_gene': 'CCDC9B', 'score': 12.16}, {'connected_gene': 'RNA5SP392', 'score': 12.15}, {'connected_gene': 'ANKRD63', 'score': 12.01}, {'connected_gene': 'RPLP0P10', 'score': 11.62}, {'connected_gene': 'PLCB2', 'score': 11.61}, {'connected_gene': 'CHST14', 'score': 11.1}, {'connected_gene': 'RPL9P27', 'score': 11.07}, {'connected_gene': 'C15orf56', 'score': 10.4}, {'connected_gene': 'PAK6', 'score': 10.38}, {'connected_gene': 'CCDC32', 'score': 8.26}, {'connected_gene': 'BAHD1', 'score': 0.37}]