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
ENST00000342234	[[45922278, 45925852], [45933019, 45933240]]	[[45924664, 45925795]]
ENST00000536300	[[45922279, 45925852], [45928284, 45928559]]	[[45924664, 45925795]]
NM_001258248	[[45922279, 45925852], [45928284, 45928516]]	[[45924664, 45925795]]
NM_199262	[[45922279, 45925852], [45933019, 45933240]]	[[45924664, 45925795]]

Promoter

Chrom	Start	End	Description
chr17	45928443	45928473	CAGE_peak_2_at_SP6_5end
chr17	45928521	45928539	CAGE_peak_1_at_SP6_5end
chr17	45933057	45933064	CAGE_peak_3_at_SP6_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	GH17I047866	47866185	47867771	1.18	[{'connected_gene': 'SCRN2', 'score': 18.78}, {'connected_gene': 'PRR15L', 'score': 13.36}, {'connected_gene': 'SP2', 'score': 11.73}, {'connected_gene': 'OSBPL7', 'score': 11.03}, {'connected_gene': 'CBX1', 'score': 4.33}, {'connected_gene': 'ENSG00000264243', 'score': 0.77}, {'connected_gene': 'SP6', 'score': 0.44}]
chr17	GH17I047870	47870275	47870424	0.66	[{'connected_gene': 'SCRN2', 'score': 12.6}, {'connected_gene': 'SP2', 'score': 11.73}, {'connected_gene': 'OSBPL7', 'score': 11.03}, {'connected_gene': 'SP6', 'score': 0.44}, {'connected_gene': 'ENSG00000264243', 'score': 0.44}]
chr17	GH17I047842	47842950	47845319	1.32	[{'connected_gene': 'SCRN2', 'score': 26.58}, {'connected_gene': 'MRPL45P2', 'score': 14.81}, {'connected_gene': 'OSBPL7', 'score': 13.83}, {'connected_gene': 'ENSG00000264701', 'score': 13.39}, {'connected_gene': 'SP2', 'score': 13.29}, {'connected_gene': 'SKAP1', 'score': 11.92}, {'connected_gene': 'RPS2P47', 'score': 11.3}, {'connected_gene': 'EFCAB13', 'score': 11.02}, {'connected_gene': 'MRPL10', 'score': 5.92}, {'connected_gene': 'ENSG00000264243', 'score': 0.37}, {'connected_gene': 'SP6', 'score': 0.29}]
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	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	GH17I047877	47877437	47877914	1.1	[{'connected_gene': 'SP6', 'score': 550.77}, {'connected_gene': 'SCRN2', 'score': 12.36}, {'connected_gene': 'OSBPL7', 'score': 11.11}, {'connected_gene': 'PRR15L', 'score': 10.96}, {'connected_gene': 'CDK5RAP3', 'score': 10.26}, {'connected_gene': 'ENSG00000266821', 'score': 0.77}]
chr17	GH17I047856	47855885	47855944	0.5	[{'connected_gene': 'SP6', 'score': 550.34}, {'connected_gene': 'PRR15L', 'score': 4.68}, {'connected_gene': 'ENSG00000264243', 'score': 0.44}, {'connected_gene': 'SCRN2', 'score': 0.39}]
chr17	GH17I047875	47875111	47876064	0.95	[{'connected_gene': 'SP6', 'score': 550.77}, {'connected_gene': 'PRR15L', 'score': 26.38}, {'connected_gene': 'MRPL45P2', 'score': 14.59}, {'connected_gene': 'SP2', 'score': 12.4}, {'connected_gene': 'SCRN2', 'score': 12.38}, {'connected_gene': 'OSBPL7', 'score': 11.12}, {'connected_gene': 'ENSG00000264701', 'score': 10.15}, {'connected_gene': 'CDK5RAP3', 'score': 10.04}, {'connected_gene': 'ENSG00000264243', 'score': 0.39}]
chr17	GH17I047855	47855687	47855746	0.5	[{'connected_gene': 'SP6', 'score': 550.34}, {'connected_gene': 'SP2', 'score': 10.95}, {'connected_gene': 'ENSG00000264243', 'score': 0.44}, {'connected_gene': 'SCRN2', 'score': 0.39}]
chr17	GH17I047944	47944517	47961544	1.96	[{'connected_gene': 'PRR15L', 'score': 569.8}, {'connected_gene': 'GC17P047952', 'score': 550.77}, {'connected_gene': 'SCRN2', 'score': 26.31}, {'connected_gene': 'MRPL45P2', 'score': 25.36}, {'connected_gene': 'CDK5RAP3', 'score': 22.16}, {'connected_gene': 'SP2', 'score': 21.98}, {'connected_gene': 'COPZ2', 'score': 11.86}, {'connected_gene': 'PNPO', 'score': 11.79}, {'connected_gene': 'EFCAB13', 'score': 11.71}, {'connected_gene': 'ENSG00000264701', 'score': 11.57}, {'connected_gene': 'UBE2Z', 'score': 11.0}, {'connected_gene': 'ENSG00000263412', 'score': 10.5}, {'connected_gene': 'CBX1', 'score': 10.13}, {'connected_gene': 'SNX11', 'score': 10.12}, {'connected_gene': 'NFE2L1', 'score': 9.78}, {'connected_gene': 'LOC102724532', 'score': 7.93}, {'connected_gene': 'SP6', 'score': 5.91}, {'connected_gene': 'HOXB2', 'score': 4.91}, {'connected_gene': 'ENSG00000264019', 'score': 0.77}, {'connected_gene': 'ENSG00000263798', 'score': 0.44}]
chr17	GH17I047861	47861039	47861599	0.2	[{'connected_gene': 'PRR15L', 'score': 20.67}, {'connected_gene': 'SP2', 'score': 11.28}, {'connected_gene': 'OSBPL7', 'score': 11.03}, {'connected_gene': 'ENSG00000264243', 'score': 0.77}, {'connected_gene': 'SP6', 'score': 0.39}, {'connected_gene': 'SCRN2', 'score': 0.37}]
chr17	GH17I048023	48023001	48027644	1.8	[{'connected_gene': 'SP2', 'score': 32.02}, {'connected_gene': 'ENSG00000253347', 'score': 26.5}, {'connected_gene': 'CBX1', 'score': 23.42}, {'connected_gene': 'MRPL45P2', 'score': 22.97}, {'connected_gene': 'EFCAB13', 'score': 20.88}, {'connected_gene': 'ENSG00000266601', 'score': 20.83}, {'connected_gene': 'SNX11', 'score': 18.69}, {'connected_gene': 'CDK5RAP3', 'score': 15.42}, {'connected_gene': 'COPZ2', 'score': 15.15}, {'connected_gene': 'SKAP1', 'score': 12.83}, {'connected_gene': 'PRR15L', 'score': 12.33}, {'connected_gene': 'KPNB1', 'score': 12.17}, {'connected_gene': 'NFE2L1', 'score': 11.99}, {'connected_gene': 'ENSG00000263412', 'score': 11.72}, {'connected_gene': 'RPS2P47', 'score': 11.2}, {'connected_gene': 'SCRN2', 'score': 11.1}, {'connected_gene': 'CDC27', 'score': 10.84}, {'connected_gene': 'ENSG00000263766', 'score': 10.49}, {'connected_gene': 'MIR1203', 'score': 9.93}, {'connected_gene': 'SP6', 'score': 6.19}, {'connected_gene': 'GC17P048037', 'score': 0.39}, {'connected_gene': 'ENSG00000264701', 'score': 0.31}]
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	GH17I047862	47862523	47863674	1.12	[{'connected_gene': 'ENSG00000264243', 'score': 550.77}, {'connected_gene': 'SCRN2', 'score': 20.43}, {'connected_gene': 'OSBPL7', 'score': 14.33}, {'connected_gene': 'SP2', 'score': 11.27}, {'connected_gene': 'PNPO', 'score': 10.64}, {'connected_gene': 'SP2-AS1', 'score': 10.64}, {'connected_gene': 'PRR15L', 'score': 10.31}, {'connected_gene': 'SP6', 'score': 0.39}]
chr17	GH17I047864	47864620	47865603	0.63	[{'connected_gene': 'ENSG00000264243', 'score': 550.77}, {'connected_gene': 'OSBPL7', 'score': 23.35}, {'connected_gene': 'SCRN2', 'score': 12.63}, {'connected_gene': 'SP2', 'score': 11.71}, {'connected_gene': 'PNPO', 'score': 10.64}, {'connected_gene': 'SP2-AS1', 'score': 10.64}, {'connected_gene': 'PRR15L', 'score': 10.27}, {'connected_gene': 'SP6', 'score': 0.39}]