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
ENST00000534795	[[71139238, 71139898], [71148857, 71148989], [71149924, 71150111]]	[[71139868, 71139898], [71148857, 71148989], [71149924, 71150111]]
ENST00000407721	[[71145459, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71156004], [71158655, 71158780], [71159358, 71159439]]	[[71146420, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71155998]]
ENST00000355527	[[71145459, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71156004], [71158655, 71158780], [71159335, 71159481]]	[[71146420, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71155998]]
ENST00000533800	[[71146010, 71146236], [71146487, 71146885], [71148857, 71148989], [71149924, 71150005]]	[[71146181, 71146236], [71146487, 71146885], [71148857, 71148989], [71149924, 71150005]]
ENST00000525137	[[71146353, 71147019], [71148857, 71148989], [71149924, 71150122]]	[[71146611, 71147019], [71148857, 71148989], [71149924, 71150122]]
ENST00000527316	[[71148948, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155165], [71155900, 71156004], [71158655, 71158780], [71159335, 71159433]]	[[71148948, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155165], [71155900, 71155998]]
ENST00000534701	[[71149794, 71150129], [71152272, 71152393]]	None
ENST00000526780	[[71152405, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71156004], [71158655, 71159124]]	[[71152405, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71155998]]
ENST00000525346	[[71153396, 71153399], [71155038, 71155261], [71155900, 71156004], [71158655, 71158780], [71159322, 71159390]]	[[71153396, 71153399], [71155038, 71155261], [71155900, 71155998]]
ENST00000531364	[[71155042, 71155261], [71155900, 71156004], [71158655, 71158772], [71159335, 71159402]]	[[71155042, 71155261], [71155900, 71155998]]
ENST00000529990	[[71155079, 71155299], [71155900, 71156004], [71158655, 71158780], [71159335, 71159411]]	[[71155079, 71155299]]
ENST00000527452	[[71155086, 71155261], [71155900, 71156004], [71158655, 71158780], [71163739, 71163914]]	[[71155086, 71155261], [71155900, 71155998]]
NM_001360	[[71145456, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71156004], [71158655, 71158780], [71159335, 71159477]]	[[71146420, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71155998]]
NM_001163817	[[71145456, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71156004], [71158655, 71158780], [71159358, 71159477]]	[[71146420, 71146885], [71148857, 71148989], [71149924, 71150129], [71152272, 71152486], [71153308, 71153399], [71155038, 71155261], [71155900, 71155998]]

Promoter

Chrom	Start	End	Description
chr11	71159380	71159449	CAGE_peak_1_at_DHCR7_5end
chr11	71159458	71159469	CAGE_peak_2_at_DHCR7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I071479	71479679	71482737	0.82	[{'connected_gene': 'NADSYN1', 'score': 32.39}, {'connected_gene': 'ENSG00000254682', 'score': 27.31}, {'connected_gene': 'NUMA1', 'score': 17.38}, {'connected_gene': 'LOC100128494', 'score': 16.0}, {'connected_gene': 'ZNF705E', 'score': 11.81}, {'connected_gene': 'DHCR7', 'score': 11.44}, {'connected_gene': 'IL18BP', 'score': 11.34}, {'connected_gene': 'FAM86C1', 'score': 11.23}, {'connected_gene': 'KRTAP5-9', 'score': 10.51}, {'connected_gene': 'MIR6754', 'score': 0.44}, {'connected_gene': 'GC11M071490', 'score': 0.37}]
chr11	GH11I071436	71436902	71439087	0.31	[{'connected_gene': 'NADSYN1', 'score': 22.21}, {'connected_gene': 'ENSG00000254682', 'score': 9.4}, {'connected_gene': 'FLJ42102', 'score': 0.39}, {'connected_gene': 'DHCR7', 'score': 0.39}]
chr11	GH11I071432	71431315	71435883	1.23	[{'connected_gene': 'NADSYN1', 'score': 41.51}, {'connected_gene': 'ENSG00000254682', 'score': 8.69}, {'connected_gene': 'FLJ42102', 'score': 0.39}, {'connected_gene': 'DHCR7', 'score': 0.37}]
chr11	GH11I071498	71498756	71500300	0.46	[{'connected_gene': 'NADSYN1', 'score': 33.12}, {'connected_gene': 'ENSG00000254682', 'score': 30.04}, {'connected_gene': 'KRTAP5-9', 'score': 11.37}, {'connected_gene': 'DHCR7', 'score': 10.93}, {'connected_gene': 'GC11M071490', 'score': 0.77}, {'connected_gene': 'GC11M071508', 'score': 0.44}]
chr11	GH11I071446	71446810	71455301	2.26	[{'connected_gene': 'NADSYN1', 'score': 607.78}, {'connected_gene': 'DHCR7', 'score': 550.77}, {'connected_gene': 'ENSG00000254682', 'score': 50.83}, {'connected_gene': 'NUMA1', 'score': 27.06}, {'connected_gene': 'LOC100128494', 'score': 16.0}, {'connected_gene': 'ZNF705E', 'score': 11.81}, {'connected_gene': 'IL18BP', 'score': 11.34}, {'connected_gene': 'ENSG00000248671', 'score': 9.92}]
chr11	GH11I071421	71420966	71421598	0.52	[{'connected_gene': 'NADSYN1', 'score': 16.77}, {'connected_gene': 'ENSG00000254682', 'score': 11.33}, {'connected_gene': 'DHCR7', 'score': 11.32}, {'connected_gene': 'KRTAP5-8', 'score': 5.85}, {'connected_gene': 'FLJ42102', 'score': 0.77}, {'connected_gene': 'SHANK2', 'score': 0.1}]
chr11	GH11I071418	71418003	71419363	0.79	[{'connected_gene': 'NADSYN1', 'score': 32.62}, {'connected_gene': 'ENSG00000254682', 'score': 27.13}, {'connected_gene': 'DHCR7', 'score': 11.71}, {'connected_gene': 'FLJ42102', 'score': 0.77}, {'connected_gene': 'SHANK2', 'score': 0.1}]
chr11	GH11I071441	71441231	71442630	0.2	[{'connected_gene': 'NADSYN1', 'score': 41.11}, {'connected_gene': 'ENSG00000254682', 'score': 8.17}, {'connected_gene': 'DHCR7', 'score': 0.39}, {'connected_gene': 'FLJ42102', 'score': 0.37}]
chr11	GH11I071442	71442680	71444676	0.2	[{'connected_gene': 'NADSYN1', 'score': 41.15}, {'connected_gene': 'ENSG00000254682', 'score': 8.51}, {'connected_gene': 'DHCR7', 'score': 0.44}, {'connected_gene': 'FLJ42102', 'score': 0.34}]
chr11	GH11I071428	71428545	71430478	0.54	[{'connected_gene': 'NADSYN1', 'score': 19.72}, {'connected_gene': 'DHCR7', 'score': 12.01}, {'connected_gene': 'ENSG00000254682', 'score': 9.3}, {'connected_gene': 'FLJ42102', 'score': 0.44}]
chr11	GH11I071477	71477775	71477924	0.46	[{'connected_gene': 'NADSYN1', 'score': 11.47}, {'connected_gene': 'DHCR7', 'score': 11.47}, {'connected_gene': 'ENSG00000254682', 'score': 11.44}, {'connected_gene': 'KRTAP5-9', 'score': 10.5}, {'connected_gene': 'MIR6754', 'score': 0.77}, {'connected_gene': 'GC11M071490', 'score': 0.37}]
chr11	GH11I071500	71500715	71500864	0.65	[{'connected_gene': 'KRTAP5-9', 'score': 11.37}, {'connected_gene': 'NADSYN1', 'score': 10.93}, {'connected_gene': 'DHCR7', 'score': 10.93}, {'connected_gene': 'ENSG00000254682', 'score': 10.91}, {'connected_gene': 'GC11M071490', 'score': 0.77}, {'connected_gene': 'GC11M071508', 'score': 0.44}]
chr11	GH11I072143	72143287	72146129	1.2	[{'connected_gene': 'FOLR3', 'score': 52.38}, {'connected_gene': 'NUMA1', 'score': 27.85}, {'connected_gene': 'LOC100128494', 'score': 26.38}, {'connected_gene': 'IL18BP', 'score': 21.35}, {'connected_gene': 'ZNF705E', 'score': 11.81}, {'connected_gene': 'ANAPC15', 'score': 11.1}, {'connected_gene': 'LAMTOR1', 'score': 10.71}, {'connected_gene': 'LRTOMT', 'score': 10.66}, {'connected_gene': 'PHOX2A', 'score': 10.38}, {'connected_gene': 'RNF121', 'score': 10.21}, {'connected_gene': 'NADSYN1', 'score': 9.9}, {'connected_gene': 'FAM86C1', 'score': 7.82}, {'connected_gene': 'DHCR7', 'score': 4.65}, {'connected_gene': 'GC11P072156', 'score': 0.44}, {'connected_gene': 'RPEP6', 'score': 0.39}]
chr11	GH11I070526	70526689	70529421	0.38	[{'connected_gene': 'SHANK2-AS2', 'score': 10.4}, {'connected_gene': 'ENSG00000246889', 'score': 6.1}, {'connected_gene': 'ENSG00000254682', 'score': 4.96}, {'connected_gene': 'DHCR7', 'score': 4.8}, {'connected_gene': 'PIR38310', 'score': 0.28}, {'connected_gene': 'GC11P070576', 'score': 0.25}, {'connected_gene': 'SHANK2', 'score': 0.03}]
chr11	GH11I072139	72139882	72142800	0.96	[{'connected_gene': 'LOC100128494', 'score': 28.72}, {'connected_gene': 'FOLR3', 'score': 27.49}, {'connected_gene': 'NUMA1', 'score': 25.22}, {'connected_gene': 'IL18BP', 'score': 23.88}, {'connected_gene': 'LAMTOR1', 'score': 17.03}, {'connected_gene': 'ZNF705E', 'score': 13.31}, {'connected_gene': 'ANAPC15', 'score': 11.37}, {'connected_gene': 'LRTOMT', 'score': 11.27}, {'connected_gene': 'RNF121', 'score': 10.46}, {'connected_gene': 'PHOX2A', 'score': 10.38}, {'connected_gene': 'NADSYN1', 'score': 10.19}, {'connected_gene': 'FAM86C1', 'score': 8.56}, {'connected_gene': 'FOLR1P1', 'score': 5.54}, {'connected_gene': 'DHCR7', 'score': 5.08}, {'connected_gene': 'S100A11P3', 'score': 4.65}, {'connected_gene': 'GC11P072156', 'score': 0.39}, {'connected_gene': 'RPEP6', 'score': 0.39}]
chr11	GH11I071504	71504106	71506732	0.62	[{'connected_gene': 'GC11M071508', 'score': 550.77}, {'connected_gene': 'NADSYN1', 'score': 25.03}, {'connected_gene': 'ENSG00000254682', 'score': 15.65}, {'connected_gene': 'KRTAP5-9', 'score': 11.57}, {'connected_gene': 'DHCR7', 'score': 10.91}, {'connected_gene': 'GC11M071490', 'score': 0.44}, {'connected_gene': 'S100A11P3', 'score': 0.37}]
chr11	GH11I071415	71415533	71417225	0.31	[{'connected_gene': 'ENSG00000254682', 'score': 21.09}, {'connected_gene': 'NADSYN1', 'score': 11.28}, {'connected_gene': 'DHCR7', 'score': 11.28}, {'connected_gene': 'FLJ42102', 'score': 0.44}, {'connected_gene': 'SHANK2', 'score': 0.1}]
chr11	GH11I071487	71487655	71490031	0.73	[{'connected_gene': 'ENSG00000254682', 'score': 31.85}, {'connected_gene': 'NADSYN1', 'score': 27.95}, {'connected_gene': 'DHCR7', 'score': 11.53}, {'connected_gene': 'KRTAP5-9', 'score': 11.15}, {'connected_gene': 'KRTAP5-8', 'score': 5.62}, {'connected_gene': 'GC11M071490', 'score': 0.44}, {'connected_gene': 'MIR6754', 'score': 0.37}]
chr11	GH11I071431	71431155	71431304	0.72	[{'connected_gene': 'ENSG00000254682', 'score': 12.24}, {'connected_gene': 'FLJ42102', 'score': 0.44}, {'connected_gene': 'DHCR7', 'score': 0.34}]