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
ENST00000358293	[[58508818, 58508908], [58513044, 58513167], [58517252, 58517364], [58517481, 58517567], [58518994, 58523735]]	[[58518998, 58520150]]
ENST00000360816	[[58515493, 58515590], [58517252, 58517364], [58517481, 58517567], [58518994, 58523735]]	[[58518998, 58520150]]
ENST00000469084	[[58515513, 58515590], [58517252, 58517364], [58517481, 58517567], [58519450, 58520055]]	None
ENST00000421092	[[58517178, 58517364], [58517481, 58517567], [58518994, 58519141]]	[[58518998, 58519141]]
NM_001190826	[[58508818, 58508908], [58513044, 58513167], [58517252, 58517364], [58517481, 58517567], [58518994, 58523702]]	[[58518998, 58520150]]
NM_001190827	[[58515443, 58515590], [58517252, 58517364], [58517481, 58517567], [58519450, 58523702]]	[[58519469, 58520150]]
NM_022106	[[58515443, 58515590], [58517252, 58517364], [58517481, 58517567], [58518994, 58523702]]	[[58518998, 58520150]]

Promoter

Chrom	Start	End	Description
chr20	58508491	58508505	CAGE_peak_3_at_C20orf177_5end
chr20	58508817	58508867	CAGE_peak_2_at_C20orf177_5end
chr20	58515417	58515550	CAGE_peak_1_at_C20orf177_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I059876	59876366	59876732	0.22	[{'connected_gene': 'FAM217B', 'score': 12.76}, {'connected_gene': 'SYCP2', 'score': 7.79}, {'connected_gene': 'PPP1R3D', 'score': 1.93}, {'connected_gene': 'RNU7-141P', 'score': 0.34}]
chr20	GH20I059938	59938318	59942302	2.07	[{'connected_gene': 'PPP1R3D', 'score': 550.77}, {'connected_gene': 'FAM217B', 'score': 550.44}, {'connected_gene': 'NELFCD', 'score': 34.84}, {'connected_gene': 'CDH26', 'score': 0.37}]
chr20	GH20I059948	59948202	59949599	0.84	[{'connected_gene': 'C20orf197', 'score': 11.56}, {'connected_gene': 'CDH26', 'score': 0.44}, {'connected_gene': 'PPP1R3D', 'score': 0.44}, {'connected_gene': 'FAM217B', 'score': 0.37}]
chr20	GH20I060105	60105001	60105800	1.01	[{'connected_gene': 'C20orf197', 'score': 7.69}, {'connected_gene': 'PPP1R3D', 'score': 2.62}, {'connected_gene': 'FAM217B', 'score': 2.25}, {'connected_gene': 'CDH26', 'score': 1.2}, {'connected_gene': 'MIR646HG', 'score': 0.37}, {'connected_gene': 'PIR59955', 'score': 0.12}]
chr20	GH20I060228	60228366	60228599	0.71	[{'connected_gene': 'C20orf197', 'score': 12.01}, {'connected_gene': 'PPP1R3D', 'score': 4.89}, {'connected_gene': 'FAM217B', 'score': 3.61}, {'connected_gene': 'PIR59955', 'score': 0.39}, {'connected_gene': 'MIR646HG', 'score': 0.11}]
chr20	GH20I060045	60045801	60047320	1.29	[{'connected_gene': 'C20orf197', 'score': 9.34}, {'connected_gene': 'PPP1R3D', 'score': 4.18}, {'connected_gene': 'FAM217B', 'score': 1.95}, {'connected_gene': 'PHACTR3', 'score': 1.72}, {'connected_gene': 'CDH26', 'score': 0.16}]
chr20	GH20I060054	60054522	60059373	1.56	[{'connected_gene': 'C20orf197', 'score': 569.29}, {'connected_gene': 'PPP1R3D', 'score': 10.83}, {'connected_gene': 'FAM217B', 'score': 4.5}, {'connected_gene': 'SYCP2', 'score': 2.02}, {'connected_gene': 'ENSG00000276093', 'score': 0.31}]
chr20	GH20I059884	59884079	59884257	0.34	[{'connected_gene': 'PHACTR3', 'score': 4.3}, {'connected_gene': 'FAM217B', 'score': 2.29}, {'connected_gene': 'RNU7-141P', 'score': 0.29}, {'connected_gene': 'SYCP2', 'score': 0.25}]
chr20	GH20I059820	59820080	59821133	0.67	[{'connected_gene': 'PHACTR3', 'score': 8.55}, {'connected_gene': 'FAM217B', 'score': 1.28}, {'connected_gene': 'RNU7-141P', 'score': 0.29}, {'connected_gene': 'LOC100506384', 'score': 0.08}]
chr20	GH20I059861	59861460	59861788	0.37	[{'connected_gene': 'PHACTR3', 'score': 7.54}, {'connected_gene': 'FAM217B', 'score': 3.5}, {'connected_gene': 'SYCP2', 'score': 3.05}, {'connected_gene': 'RNU7-141P', 'score': 0.44}]
chr20	GH20I059933	59933400	59934755	1.97	[{'connected_gene': 'SYCP2', 'score': 550.77}, {'connected_gene': 'FAM217B', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 14.58}, {'connected_gene': 'PPP1R3D', 'score': 0.44}]
chr20	GH20I059931	59931117	59932528	1.13	[{'connected_gene': 'SYCP2', 'score': 550.77}, {'connected_gene': 'FAM217B', 'score': 550.77}, {'connected_gene': 'RNU7-141P', 'score': 0.18}]