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
ENST00000269025	[[45908992, 45909365], [45909465, 45909571], [45911790, 45911899], [45912718, 45912765], [45913031, 45913141], [45913398, 45913468], [45913698, 45913841], [45914115, 45915079]]	[[45909355, 45909365], [45909465, 45909571], [45911790, 45911899], [45912718, 45912765], [45913031, 45913141], [45913398, 45913468], [45913698, 45913841], [45914115, 45914486]]
ENST00000579742	[[45908999, 45909365], [45909465, 45909571], [45911334, 45911413], [45911790, 45911899], [45912718, 45912765], [45913031, 45913141], [45913398, 45913428]]	[[45909355, 45909365], [45909465, 45909571], [45911334, 45911362]]
ENST00000579971	[[45909056, 45909365], [45909465, 45909571], [45911790, 45911899], [45912183, 45912306], [45912718, 45912765], [45913031, 45913141], [45913398, 45913466]]	[[45909355, 45909365], [45909465, 45909571], [45911790, 45911899], [45912183, 45912255]]
ENST00000584580	[[45909088, 45909365], [45909465, 45909571], [45911334, 45911413], [45911790, 45912765], [45913031, 45913141], [45913398, 45913468], [45913698, 45913841], [45914115, 45914594]]	[[45909355, 45909365], [45909465, 45909571], [45911334, 45911362]]
ENST00000584809	[[45909536, 45909571], [45911790, 45912614]]	None
NM_033413	[[45908992, 45909365], [45909465, 45909571], [45911790, 45911899], [45912718, 45912765], [45913031, 45913141], [45913398, 45913468], [45913698, 45913841], [45914115, 45915079]]	[[45909355, 45909365], [45909465, 45909571], [45911790, 45911899], [45912718, 45912765], [45913031, 45913141], [45913398, 45913468], [45913698, 45913841], [45914115, 45914486]]

Promoter

Chrom	Start	End	Description
chr17	45908954	45908971	CAGE_peak_4_at_LRRC46_5end
chr17	45908974	45909061	CAGE_peak_1_at_LRRC46_5end
chr17	45909077	45909086	CAGE_peak_3_at_LRRC46_5end
chr17	45909091	45909111	CAGE_peak_2_at_LRRC46_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I047846	47846601	47848587	1.02	[{'connected_gene': 'SCRN2', 'score': 29.96}, {'connected_gene': 'LRRC46', 'score': 26.74}, {'connected_gene': 'ENSG00000264243', 'score': 0.37}, {'connected_gene': 'SP6', 'score': 0.31}]
chr17	GH17I047839	47839775	47842430	2.25	[{'connected_gene': 'SCRN2', 'score': 560.86}, {'connected_gene': 'PIR51547', 'score': 550.77}, {'connected_gene': 'LRRC46', 'score': 26.03}, {'connected_gene': 'OSBPL7', 'score': 13.89}, {'connected_gene': 'SKAP1', 'score': 11.45}, {'connected_gene': 'LOC102724532', 'score': 7.34}]
chr17	GH17I047837	47837093	47838403	0.69	[{'connected_gene': 'SCRN2', 'score': 32.45}, {'connected_gene': 'LRRC46', 'score': 26.06}, {'connected_gene': 'PIR51547', 'score': 0.77}]
chr17	GH17I047872	47872107	47873752	1.16	[{'connected_gene': 'SCRN2', 'score': 28.57}, {'connected_gene': 'CALCOCO2', 'score': 15.61}, {'connected_gene': 'SP2', 'score': 11.89}, {'connected_gene': 'OSBPL7', 'score': 11.21}, {'connected_gene': 'PRR15L', 'score': 10.96}, {'connected_gene': 'LRRC46', 'score': 10.86}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'ENSG00000266601', 'score': 10.56}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'MRPL10', 'score': 6.51}, {'connected_gene': 'SP6', 'score': 0.77}, {'connected_gene': 'ENSG00000264243', 'score': 0.44}]
chr17	GH17I047807	47807169	47807756	0.2	[{'connected_gene': 'LRRC46', 'score': 24.89}, {'connected_gene': 'SCRN2', 'score': 20.84}, {'connected_gene': 'HOXB2', 'score': 7.36}, {'connected_gene': 'OSBPL7', 'score': 6.69}, {'connected_gene': 'PIR42414', 'score': 0.77}, {'connected_gene': 'TBX21', 'score': 0.19}]
chr17	GH17I047828	47828225	47832410	2.27	[{'connected_gene': 'LRRC46', 'score': 577.18}, {'connected_gene': 'MRPL10', 'score': 565.01}, {'connected_gene': 'SCRN2', 'score': 24.83}, {'connected_gene': 'MRPL45P2', 'score': 16.4}, {'connected_gene': 'OSBPL7', 'score': 13.83}, {'connected_gene': 'SKAP1', 'score': 11.93}, {'connected_gene': 'SP2', 'score': 11.3}, {'connected_gene': 'HOXB4', 'score': 10.56}, {'connected_gene': 'ENSG00000266601', 'score': 10.5}, {'connected_gene': 'PRR15L', 'score': 10.23}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'CDC27', 'score': 10.01}, {'connected_gene': 'PIR55502', 'score': 0.44}]
chr17	GH17I047826	47826437	47827764	0.31	[{'connected_gene': 'LRRC46', 'score': 27.15}, {'connected_gene': 'OSBPL7', 'score': 13.61}, {'connected_gene': 'SP2', 'score': 11.3}, {'connected_gene': 'PRR15L', 'score': 10.22}, {'connected_gene': 'MRPL10', 'score': 6.98}, {'connected_gene': 'PIR55502', 'score': 0.77}]
chr17	GH17I047834	47834601	47834800	0.2	[{'connected_gene': 'LRRC46', 'score': 0.77}, {'connected_gene': 'PIR51547', 'score': 0.44}]
chr17	GH17I047849	47849796	47852012	2.18	[{'connected_gene': 'SP6', 'score': 550.31}, {'connected_gene': 'SCRN2', 'score': 26.84}, {'connected_gene': 'LRRC46', 'score': 23.54}, {'connected_gene': 'SP2', 'score': 11.57}, {'connected_gene': 'PRR15L', 'score': 10.29}, {'connected_gene': 'ENSG00000264243', 'score': 0.39}]
chr17	GH17I047700	47700323	47709648	1.72	[{'connected_gene': 'MRPL45P2', 'score': 50.52}, {'connected_gene': 'TBKBP1', 'score': 48.87}, {'connected_gene': 'SP2', 'score': 38.28}, {'connected_gene': 'EFCAB13', 'score': 36.54}, {'connected_gene': 'ENSG00000253347', 'score': 33.09}, {'connected_gene': 'ENSG00000266601', 'score': 24.56}, {'connected_gene': 'RPS7P11', 'score': 23.19}, {'connected_gene': 'ENSG00000264701', 'score': 22.64}, {'connected_gene': 'KPNB1', 'score': 20.87}, {'connected_gene': 'LRRC37A17P', 'score': 14.61}, {'connected_gene': 'CDK5RAP3', 'score': 14.16}, {'connected_gene': 'OSBPL7', 'score': 14.02}, {'connected_gene': 'RPS2P47', 'score': 13.17}, {'connected_gene': 'LRRC46', 'score': 12.9}, {'connected_gene': 'CBX1', 'score': 12.18}, {'connected_gene': 'ENSG00000263766', 'score': 11.94}, {'connected_gene': 'SCRN2', 'score': 11.43}, {'connected_gene': 'GOSR2', 'score': 10.87}, {'connected_gene': 'TBX21', 'score': 10.45}, {'connected_gene': 'LOC101927060', 'score': 10.43}, {'connected_gene': 'HOXB3', 'score': 10.35}, {'connected_gene': 'ENSG00000263412', 'score': 9.73}, {'connected_gene': 'HOXB2', 'score': 4.29}, {'connected_gene': 'ITGB3', 'score': 2.56}, {'connected_gene': 'SNX11', 'score': 1.97}, {'connected_gene': 'NPEPPS', 'score': 1.14}]
chr17	GH17I048538	48538779	48607552	3.02	[{'connected_gene': 'HOXB2', 'score': 589.8}, {'connected_gene': 'HOXB3', 'score': 564.5}, {'connected_gene': 'HOXB6', 'score': 558.14}, {'connected_gene': 'HOXB4', 'score': 557.76}, {'connected_gene': 'HOXB5', 'score': 554.58}, {'connected_gene': 'PIR47329', 'score': 550.77}, {'connected_gene': 'PIR34300', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 44.27}, {'connected_gene': 'SP2', 'score': 41.54}, {'connected_gene': 'ENSG00000264701', 'score': 40.36}, {'connected_gene': 'CDK5RAP3', 'score': 33.27}, {'connected_gene': 'ENSG00000263412', 'score': 20.95}, {'connected_gene': 'KPNB1', 'score': 18.05}, {'connected_gene': 'SKAP1', 'score': 16.34}, {'connected_gene': 'HOXB9', 'score': 14.67}, {'connected_gene': 'HOXB-AS1', 'score': 12.33}, {'connected_gene': 'HOXB-AS3', 'score': 12.19}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'LRRC46', 'score': 11.47}, {'connected_gene': 'HOXB-AS4', 'score': 11.23}, {'connected_gene': 'HOXB1', 'score': 11.1}, {'connected_gene': 'HOXB-AS2', 'score': 10.87}, {'connected_gene': 'ENSG00000266601', 'score': 10.36}, {'connected_gene': 'EGID-105371807', 'score': 9.93}, {'connected_gene': 'MIR1203', 'score': 8.92}, {'connected_gene': 'LOC102724532', 'score': 5.52}, {'connected_gene': 'SCRN2', 'score': 5.29}, {'connected_gene': 'SNX11', 'score': 5.16}, {'connected_gene': 'B4GALNT2', 'score': 5.12}, {'connected_gene': 'TTLL6', 'score': 5.04}, {'connected_gene': 'SP6', 'score': 4.62}, {'connected_gene': 'HOXB7', 'score': 4.39}, {'connected_gene': 'HOXB8', 'score': 4.28}, {'connected_gene': 'ENSG00000266821', 'score': 4.07}, {'connected_gene': 'GC17M048578', 'score': 0.77}, {'connected_gene': 'PIR40370', 'score': 0.77}, {'connected_gene': 'PIR53857', 'score': 0.77}, {'connected_gene': 'MIR10A', 'score': 0.44}, {'connected_gene': 'ENSG00000257178', 'score': 0.44}, {'connected_gene': 'PIR56911', 'score': 0.39}, {'connected_gene': 'PIR32705', 'score': 0.39}, {'connected_gene': 'GC17P048587', 'score': 0.39}, {'connected_gene': 'PIR40529', 'score': 0.39}, {'connected_gene': 'PIR49991', 'score': 0.37}, {'connected_gene': 'GC17P048589', 'score': 0.37}, {'connected_gene': 'PIR40384', 'score': 0.34}, {'connected_gene': 'PIR55455', 'score': 0.34}, {'connected_gene': 'PIR58858', 'score': 0.34}, {'connected_gene': 'PIR58910', 'score': 0.34}, {'connected_gene': 'GC17M048596', 'score': 0.34}, {'connected_gene': 'GC17M048544', 'score': 0.31}]
chr17	GH17I047879	47879135	47879284	0.86	[{'connected_gene': 'MRPL10', 'score': 12.38}, {'connected_gene': 'LRRC46', 'score': 12.38}, {'connected_gene': 'SCRN2', 'score': 12.12}, {'connected_gene': 'OSBPL7', 'score': 11.05}, {'connected_gene': 'CDK5RAP3', 'score': 10.93}, {'connected_gene': 'PRR15L', 'score': 10.71}, {'connected_gene': 'SP2', 'score': 10.55}, {'connected_gene': 'KPNB1', 'score': 9.75}, {'connected_gene': 'SP6', 'score': 0.77}, {'connected_gene': 'ENSG00000266821', 'score': 0.77}]
chr17	GH17I047274	47274309	47281732	1.72	[{'connected_gene': 'EFCAB13', 'score': 25.11}, {'connected_gene': 'GOSR2', 'score': 19.72}, {'connected_gene': 'LRRC37A2', 'score': 19.27}, {'connected_gene': 'LRRC46', 'score': 12.81}, {'connected_gene': 'TBKBP1', 'score': 12.55}, {'connected_gene': 'CBX1', 'score': 12.16}, {'connected_gene': 'ENSG00000264701', 'score': 11.79}, {'connected_gene': 'ENSG00000263766', 'score': 11.77}, {'connected_gene': 'MYL4', 'score': 11.73}, {'connected_gene': 'CDK5RAP3', 'score': 9.82}, {'connected_gene': 'ITGB3', 'score': 7.72}, {'connected_gene': 'THCAT158', 'score': 6.25}, {'connected_gene': 'WNT9B', 'score': 2.33}, {'connected_gene': 'ENSG00000276790', 'score': 0.77}, {'connected_gene': 'RNU7-186P', 'score': 0.37}, {'connected_gene': 'ENSG00000259753', 'score': 0.34}]
chr17	GH17I047819	47819459	47823107	2.24	[{'connected_gene': 'OSBPL7', 'score': 559.78}, {'connected_gene': 'LRRC46', 'score': 26.78}, {'connected_gene': 'SP2', 'score': 13.83}, {'connected_gene': 'SKAP1', 'score': 11.93}, {'connected_gene': 'ENSG00000264701', 'score': 11.28}, {'connected_gene': 'EFCAB13', 'score': 11.19}, {'connected_gene': 'MRPL45P2', 'score': 11.12}, {'connected_gene': 'ENSG00000266601', 'score': 10.47}, {'connected_gene': 'RPS2P47', 'score': 10.24}, {'connected_gene': 'KPNB1', 'score': 10.11}, {'connected_gene': 'MRPL10', 'score': 5.83}, {'connected_gene': 'PIR42414', 'score': 0.39}]
chr17	GH17I048149	48149190	48150331	1.29	[{'connected_gene': 'ENSG00000253347', 'score': 24.0}, {'connected_gene': 'ENSG00000263412', 'score': 21.07}, {'connected_gene': 'COPZ2', 'score': 15.97}, {'connected_gene': 'LRRC46', 'score': 5.49}, {'connected_gene': 'SKAP1', 'score': 2.35}, {'connected_gene': 'OSBPL7', 'score': 1.61}, {'connected_gene': 'TBX21', 'score': 1.19}, {'connected_gene': 'MIR1203', 'score': 0.44}, {'connected_gene': 'GC17P048132', 'score': 0.37}]
chr17	GH17I047808	47808859	47812291	1.31	[{'connected_gene': 'PIR42414', 'score': 550.77}, {'connected_gene': 'OSBPL7', 'score': 25.93}, {'connected_gene': 'LRRC46', 'score': 25.29}, {'connected_gene': 'SCRN2', 'score': 20.61}, {'connected_gene': 'MRPL10', 'score': 14.36}, {'connected_gene': 'SKAP1', 'score': 11.91}]