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
ENST00000533589	[[102288828, 102289153], [102296167, 102296418], [102300390, 102300539], [102304707, 102304853], [102305699, 102305806], [102306274, 102306338]]	[[102296311, 102296418], [102300390, 102300539], [102304707, 102304853], [102305699, 102305806], [102306274, 102306338]]
ENST00000299163	[[102295615, 102295892], [102296167, 102296418], [102300390, 102300539], [102304707, 102304853], [102305699, 102305806], [102306274, 102306338], [102306896, 102307007], [102307849, 102319755]]	[[102295715, 102295892], [102296167, 102296418], [102300390, 102300539], [102304707, 102304853], [102305699, 102305806], [102306274, 102306338], [102306896, 102307007], [102307849, 102307894]]
ENST00000526476	[[102295671, 102295807], [102296167, 102296418], [102300390, 102300539], [102304707, 102304853], [102305699, 102305725]]	[[102295715, 102295807], [102296167, 102296183]]
ENST00000528044	[[102295954, 102296418], [102300390, 102300485]]	None
ENST00000478787	[[102296226, 102296418], [102300390, 102300539], [102304707, 102305254]]	None
NM_017902	[[102295640, 102295892], [102296167, 102296418], [102300390, 102300539], [102304707, 102304853], [102305699, 102305806], [102306274, 102306338], [102306896, 102307007], [102307849, 102313681]]	[[102295715, 102295892], [102296167, 102296418], [102300390, 102300539], [102304707, 102304853], [102305699, 102305806], [102306274, 102306338], [102306896, 102307007], [102307849, 102307894]]

Promoter

Chrom	Start	End	Description
chr10	102295684	102295713	CAGE_peak_1_at_HIF1AN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I100339	100338802	100339754	1.09	[{'connected_gene': 'PKD2L1', 'score': 24.85}, {'connected_gene': 'SEC31B', 'score': 10.07}, {'connected_gene': 'HIF1AN', 'score': 10.07}, {'connected_gene': 'NDUFB8', 'score': 10.07}, {'connected_gene': 'ENSG00000255339', 'score': 10.07}, {'connected_gene': 'ENSG00000231188', 'score': 0.44}, {'connected_gene': 'BLOC1S2', 'score': 0.23}]
chr10	GH10I100369	100369042	100375845	2.14	[{'connected_gene': 'OLMALINC', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 24.82}, {'connected_gene': 'SEC31B', 'score': 21.93}, {'connected_gene': 'EBAG9P1', 'score': 19.65}, {'connected_gene': 'LOC101927300', 'score': 13.51}, {'connected_gene': 'SCD', 'score': 12.9}, {'connected_gene': 'ENSG00000231188', 'score': 12.9}, {'connected_gene': 'CHUK', 'score': 12.04}, {'connected_gene': 'ENSG00000272572', 'score': 11.31}, {'connected_gene': 'NDUFB8', 'score': 10.5}, {'connected_gene': 'HIF1AN', 'score': 10.5}, {'connected_gene': 'ENSG00000255339', 'score': 10.5}, {'connected_gene': 'LZTS2', 'score': 9.8}, {'connected_gene': 'PDZD7', 'score': 9.67}, {'connected_gene': 'PKD2L1', 'score': 5.7}, {'connected_gene': 'CWF19L1', 'score': 1.52}]
chr10	GH10I100495	100495980	100496598	0.2	[{'connected_gene': 'WNT8B', 'score': 11.4}, {'connected_gene': 'ENSG00000231188', 'score': 11.29}, {'connected_gene': 'SCD', 'score': 11.29}, {'connected_gene': 'SEC31B', 'score': 11.18}, {'connected_gene': 'NDUFB8', 'score': 11.13}, {'connected_gene': 'HIF1AN', 'score': 11.13}, {'connected_gene': 'ENSG00000255339', 'score': 11.13}, {'connected_gene': 'GC10M100500', 'score': 0.77}, {'connected_gene': 'LOC105378452', 'score': 0.37}]
chr10	GH10I100497	100497004	100498114	0.2	[{'connected_gene': 'WNT8B', 'score': 11.4}, {'connected_gene': 'ENSG00000231188', 'score': 11.28}, {'connected_gene': 'SCD', 'score': 11.28}, {'connected_gene': 'SEC31B', 'score': 11.18}, {'connected_gene': 'NDUFB8', 'score': 11.13}, {'connected_gene': 'HIF1AN', 'score': 11.13}, {'connected_gene': 'ENSG00000255339', 'score': 11.13}, {'connected_gene': 'GC10M100500', 'score': 0.77}, {'connected_gene': 'LOC105378452', 'score': 0.37}]
chr10	GH10I100376	100376201	100376600	0.66	[{'connected_gene': 'SCD', 'score': 12.25}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SEC31B', 'score': 10.02}, {'connected_gene': 'NDUFB8', 'score': 10.02}, {'connected_gene': 'HIF1AN', 'score': 10.02}, {'connected_gene': 'ENSG00000255339', 'score': 10.02}, {'connected_gene': 'PIR60373', 'score': 0.77}, {'connected_gene': 'OLMALINC', 'score': 0.77}]
chr10	GH10I100535	100535160	100536713	2.04	[{'connected_gene': 'HIF1AN', 'score': 556.79}, {'connected_gene': 'SEC31B', 'score': 39.83}, {'connected_gene': 'PHBP9', 'score': 14.0}, {'connected_gene': 'CWF19L1', 'score': 12.45}, {'connected_gene': 'SLC25A28', 'score': 12.13}, {'connected_gene': 'MRPL43', 'score': 9.69}, {'connected_gene': 'SLF2', 'score': 9.55}, {'connected_gene': 'SEMA4G', 'score': 9.2}, {'connected_gene': 'NDUFB8', 'score': 0.44}, {'connected_gene': 'ENSG00000274660', 'score': 0.12}]
chr10	GH10I100045	100045512	100046773	0.91	[{'connected_gene': 'CWF19L1', 'score': 17.01}, {'connected_gene': 'HIF1AN', 'score': 4.93}, {'connected_gene': 'CPN1', 'score': 0.28}, {'connected_gene': 'DNMBP', 'score': 0.28}]
chr10	GH10I100528	100528087	100530555	1.97	[{'connected_gene': 'NDUFB8', 'score': 550.77}, {'connected_gene': 'HIF1AN', 'score': 550.77}, {'connected_gene': 'ENSG00000255339', 'score': 550.77}, {'connected_gene': 'SEC31B', 'score': 46.7}]
chr10	GH10I100525	100525238	100525596	0.26	[{'connected_gene': 'NDUFB8', 'score': 0.77}, {'connected_gene': 'HIF1AN', 'score': 0.77}, {'connected_gene': 'ENSG00000255339', 'score': 0.77}, {'connected_gene': 'SEC31B', 'score': 0.44}]
chr10	GH10I100481	100481449	100483400	1.14	[{'connected_gene': 'SEC31B', 'score': 57.94}, {'connected_gene': 'MRPL43', 'score': 17.16}, {'connected_gene': 'NDUFB8', 'score': 11.1}, {'connected_gene': 'HIF1AN', 'score': 11.1}, {'connected_gene': 'ENSG00000255339', 'score': 11.1}, {'connected_gene': 'SLC25A28', 'score': 10.78}, {'connected_gene': 'LZTS2', 'score': 10.05}, {'connected_gene': 'LOC105378452', 'score': 0.77}, {'connected_gene': 'WNT8B', 'score': 0.37}, {'connected_gene': 'GC10M100500', 'score': 0.37}]
chr10	GH10I100434	100433864	100434053	0.96	[{'connected_gene': 'SEC31B', 'score': 54.37}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'WNT8B', 'score': 11.65}, {'connected_gene': 'NDUFB8', 'score': 10.42}, {'connected_gene': 'HIF1AN', 'score': 10.42}, {'connected_gene': 'ENSG00000255339', 'score': 10.42}, {'connected_gene': 'ENSG00000212325', 'score': 0.28}, {'connected_gene': 'OLMALINC', 'score': 0.21}]
chr10	GH10I100523	100523728	100524742	0.38	[{'connected_gene': 'SEC31B', 'score': 40.08}, {'connected_gene': 'HIF1AN', 'score': 0.77}, {'connected_gene': 'NDUFB8', 'score': 0.44}, {'connected_gene': 'ENSG00000255339', 'score': 0.44}]
chr10	GH10I100338	100338544	100338713	0.93	[{'connected_gene': 'SEC31B', 'score': 10.07}, {'connected_gene': 'NDUFB8', 'score': 10.07}, {'connected_gene': 'HIF1AN', 'score': 10.07}, {'connected_gene': 'ENSG00000255339', 'score': 10.07}, {'connected_gene': 'ENSG00000231188', 'score': 0.44}, {'connected_gene': 'PKD2L1', 'score': 0.44}, {'connected_gene': 'BLOC1S2', 'score': 0.23}]
chr10	GH10I100555	100555004	100555153	0.43	[{'connected_gene': 'SEC31B', 'score': 50.43}, {'connected_gene': 'NDUFB8', 'score': 11.17}, {'connected_gene': 'HIF1AN', 'score': 11.17}, {'connected_gene': 'ENSG00000255339', 'score': 11.17}, {'connected_gene': 'ENSG00000274660', 'score': 0.14}]
chr10	GH10I100642	100642065	100643080	0.46	[{'connected_gene': 'EBAG9P1', 'score': 11.47}, {'connected_gene': 'LZTS2', 'score': 11.46}, {'connected_gene': 'SLF2', 'score': 10.33}, {'connected_gene': 'SEC31B', 'score': 10.05}, {'connected_gene': 'HIF1AN', 'score': 4.79}, {'connected_gene': 'ENSG00000274660', 'score': 0.34}, {'connected_gene': 'NDUFB8', 'score': 0.14}]
chr10	GH10I100433	100433601	100433801	0.92	[{'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'WNT8B', 'score': 11.65}, {'connected_gene': 'SEC31B', 'score': 10.43}, {'connected_gene': 'NDUFB8', 'score': 10.42}, {'connected_gene': 'HIF1AN', 'score': 10.42}, {'connected_gene': 'ENSG00000255339', 'score': 10.42}, {'connected_gene': 'ENSG00000212325', 'score': 0.28}, {'connected_gene': 'OLMALINC', 'score': 0.21}]
chr10	GH10I100503	100503923	100504613	0.31	[{'connected_gene': 'ENSG00000231188', 'score': 11.29}, {'connected_gene': 'SCD', 'score': 11.29}, {'connected_gene': 'HIF1AN', 'score': 6.74}, {'connected_gene': 'GC10M100501', 'score': 0.77}, {'connected_gene': 'GC10M100502', 'score': 0.77}, {'connected_gene': 'SEC31B', 'score': 0.37}]
chr10	GH10I100378	100378004	100378153	0.79	[{'connected_gene': 'PIR60373', 'score': 550.77}, {'connected_gene': 'SEC31B', 'score': 14.31}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'NDUFB8', 'score': 10.02}, {'connected_gene': 'HIF1AN', 'score': 10.02}, {'connected_gene': 'ENSG00000255339', 'score': 10.02}, {'connected_gene': 'OLMALINC', 'score': 0.77}]
chr10	GH10I100668	100668296	100668559	0.84	[{'connected_gene': 'ENSG00000274660', 'score': 550.77}, {'connected_gene': 'EBAG9P1', 'score': 14.62}, {'connected_gene': 'LZTS2', 'score': 14.55}, {'connected_gene': 'MRPL43', 'score': 11.94}, {'connected_gene': 'PHBP9', 'score': 9.69}, {'connected_gene': 'HIF1AN', 'score': 4.66}, {'connected_gene': 'GC10M100669', 'score': 0.77}]