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
ENST00000423058	[[166845669, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913008], [166915077, 166915198], [166929867, 166930149]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913008], [166915077, 166915198], [166929867, 166930131]]
ENST00000303395	[[166845672, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]
ENST00000375405	[[166845672, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900211, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930149]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900211, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]
ENST00000409050	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900262, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900262, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]
ENST00000473295	[[166852562, 166852627], [166854547, 166854685], [166856232, 166856573]]	None
ENST00000491429	[[166854634, 166854685], [166856232, 166856286], [166858981, 166859418]]	None
ENST00000507401	[[166929811, 166930180], [166934219, 166934311], [166984280, 166984523]]	None
NM_001165963	[[166845669, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930149]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]
NM_006920	[[166845669, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900211, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930149]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900211, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]
NM_001165964	[[166845669, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900262, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930149]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900262, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]
NM_001202435	[[166845669, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930180], [166934219, 166934311], [167005556, 167005642]]	[[166847754, 166848932], [166850655, 166850926], [166852522, 166852627], [166854547, 166854685], [166856232, 166856286], [166858981, 166859263], [166866228, 166866351], [166868618, 166868792], [166870253, 166870408], [166872116, 166872237], [166892557, 166893040], [166894285, 166894642], [166895932, 166896106], [166897740, 166897979], [166898801, 166898934], [166900178, 166900559], [166901552, 166901837], [166903279, 166903486], [166904136, 166904278], [166905395, 166905459], [166908228, 166908498], [166909361, 166909453], [166911147, 166911276], [166912920, 166913010], [166915079, 166915198], [166929867, 166930131]]

Promoter

Chrom	Start	End	Description
chr2	167005607	167005628	CAGE_peak_2_at_SCN1A_5end
chr2	167005631	167005703	CAGE_peak_1_at_SCN1A_5end
chr2	167005715	167005727	CAGE_peak_3_at_SCN1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I166092	166092841	166093726	0.58	[{'connected_gene': 'TTC21B', 'score': 4.77}, {'connected_gene': 'PIR59662', 'score': 0.37}, {'connected_gene': 'GC02M166073', 'score': 0.37}, {'connected_gene': 'SCN1A', 'score': 0.22}, {'connected_gene': 'LOC101929680', 'score': 0.12}, {'connected_gene': 'LOC102724058', 'score': 0.12}]
chr2	GH02I166034	166034140	166034494	0.22	[{'connected_gene': 'SCN1A', 'score': 13.83}, {'connected_gene': 'LOC101929680', 'score': 11.42}, {'connected_gene': 'LOC102724058', 'score': 11.42}, {'connected_gene': 'TTC21B', 'score': 1.41}, {'connected_gene': 'GC02M166073', 'score': 0.28}]
chr2	GH02I166127	166127311	166128064	1.48	[{'connected_gene': 'SCN1A', 'score': 561.57}, {'connected_gene': 'GC02M166127', 'score': 550.77}, {'connected_gene': 'GC02M166126', 'score': 550.77}, {'connected_gene': 'LOC101929680', 'score': 11.37}, {'connected_gene': 'LOC102724058', 'score': 11.37}, {'connected_gene': 'GC02M166148', 'score': 0.34}, {'connected_gene': 'GC02M166154', 'score': 0.34}]
chr2	GH02I166131	166131725	166137897	0.93	[{'connected_gene': 'LOC101929680', 'score': 11.49}, {'connected_gene': 'LOC102724058', 'score': 11.49}, {'connected_gene': 'GALNT3', 'score': 5.98}, {'connected_gene': 'SCN3A', 'score': 4.65}, {'connected_gene': 'GC02M166126', 'score': 0.44}, {'connected_gene': 'GC02M166127', 'score': 0.44}, {'connected_gene': 'GC02M166148', 'score': 0.39}, {'connected_gene': 'GC02M166154', 'score': 0.39}, {'connected_gene': 'SCN1A', 'score': 0.39}]
chr2	GH02I166090	166090857	166091800	0.59	[{'connected_gene': 'GC02M166073', 'score': 0.37}, {'connected_gene': 'PIR59662', 'score': 0.34}, {'connected_gene': 'SCN1A', 'score': 0.22}, {'connected_gene': 'LOC101929680', 'score': 0.12}, {'connected_gene': 'LOC102724058', 'score': 0.12}]
chr2	GH02I166091	166090354	166090840	0.52	[{'connected_gene': 'GC02M166073', 'score': 0.37}, {'connected_gene': 'PIR59662', 'score': 0.34}, {'connected_gene': 'SCN1A', 'score': 0.22}, {'connected_gene': 'LOC101929680', 'score': 0.12}, {'connected_gene': 'LOC102724058', 'score': 0.12}]
chr2	GH02I166089	166089901	166090059	0.22	[{'connected_gene': 'GC02M166073', 'score': 0.37}, {'connected_gene': 'PIR59662', 'score': 0.34}, {'connected_gene': 'SCN1A', 'score': 0.22}, {'connected_gene': 'LOC101929680', 'score': 0.12}, {'connected_gene': 'LOC102724058', 'score': 0.12}]
chr2	GH02I166125	166125965	166126404	0.83	[{'connected_gene': 'GC02M166127', 'score': 550.77}, {'connected_gene': 'GC02M166126', 'score': 550.77}, {'connected_gene': 'SCN1A', 'score': 14.23}, {'connected_gene': 'LOC101929680', 'score': 11.38}, {'connected_gene': 'LOC102724058', 'score': 11.38}, {'connected_gene': 'GC02M166124', 'score': 0.77}]