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
ENST00000263382	[[14230320, 14231477], [14232343, 14232520], [14236933, 14237049], [14247159, 14247768]]	[[14231270, 14231477], [14232343, 14232520], [14236933, 14237049], [14247159, 14247268]]
ENST00000592798	[[14231030, 14231477], [14236933, 14237049], [14247159, 14247365]]	[[14231270, 14231477], [14236933, 14237049], [14247159, 14247268]]
ENST00000590835	[[14231259, 14231477], [14232343, 14232489], [14236933, 14237049], [14247159, 14247425]]	[[14232468, 14232489], [14236933, 14237049], [14247159, 14247268]]
ENST00000589468	[[14231309, 14231477], [14232343, 14232520], [14247159, 14247401]]	[[14232482, 14232520], [14247159, 14247268]]
ENST00000474890	[[14232098, 14232520], [14236933, 14237049], [14247159, 14247386]]	[[14232247, 14232520], [14236933, 14237049], [14247159, 14247268]]
NM_018154	[[14230320, 14231477], [14232343, 14232520], [14236933, 14237049], [14247159, 14247440]]	[[14231270, 14231477], [14232343, 14232520], [14236933, 14237049], [14247159, 14247268]]

Promoter

Chrom	Start	End	Description
chr19	14247387	14247409	CAGE_peak_1_at_ASF1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I014216	14216601	14218056	1.37	[{'connected_gene': 'CCDC130', 'score': 26.61}, {'connected_gene': 'DCAF15', 'score': 20.47}, {'connected_gene': 'DDX39A', 'score': 16.32}, {'connected_gene': 'RFX1', 'score': 11.73}, {'connected_gene': 'ZNF333', 'score': 11.01}, {'connected_gene': 'ASF1B', 'score': 10.26}, {'connected_gene': 'MRI1', 'score': 10.02}, {'connected_gene': 'ADGRL1', 'score': 5.36}, {'connected_gene': 'RN7SL231P', 'score': 0.77}, {'connected_gene': 'ENSG00000267406', 'score': 0.23}]
chr19	GH19I014130	14130134	14130393	0.2	[{'connected_gene': 'PRKACA', 'score': 15.83}, {'connected_gene': 'PIR34894', 'score': 0.44}, {'connected_gene': 'ASF1B', 'score': 0.44}]
chr19	GH19I014126	14126688	14129367	1.06	[{'connected_gene': 'PRKACA', 'score': 15.73}, {'connected_gene': 'PIR34894', 'score': 0.44}, {'connected_gene': 'ASF1B', 'score': 0.44}]
chr19	GH19I014111	14111465	14120803	2.59	[{'connected_gene': 'PRKACA', 'score': 567.43}, {'connected_gene': 'DDX39A', 'score': 17.14}, {'connected_gene': 'DCAF15', 'score': 14.58}, {'connected_gene': 'LOC284454', 'score': 14.23}, {'connected_gene': 'RFX1', 'score': 13.72}, {'connected_gene': 'CCDC130', 'score': 7.21}, {'connected_gene': 'ADGRE5', 'score': 6.38}, {'connected_gene': 'PALM3', 'score': 6.06}, {'connected_gene': 'DNAJB1', 'score': 5.95}, {'connected_gene': 'PKN1', 'score': 5.8}, {'connected_gene': 'IL27RA', 'score': 3.41}, {'connected_gene': 'ZSWIM4', 'score': 3.01}, {'connected_gene': 'PIR49003', 'score': 0.77}, {'connected_gene': 'ENSG00000267783', 'score': 0.77}, {'connected_gene': 'GC19M014124', 'score': 0.77}, {'connected_gene': 'GC19M014096', 'score': 0.37}, {'connected_gene': 'ASF1B', 'score': 0.34}]
chr19	GH19I014135	14135345	14140823	2.31	[{'connected_gene': 'ASF1B', 'score': 550.77}, {'connected_gene': 'LOC100507373', 'score': 550.77}, {'connected_gene': 'DDX39A', 'score': 37.79}, {'connected_gene': 'DCAF15', 'score': 33.68}, {'connected_gene': 'RFX1', 'score': 30.58}, {'connected_gene': 'CCDC130', 'score': 28.32}, {'connected_gene': 'PRKACA', 'score': 27.85}, {'connected_gene': 'ZNF333', 'score': 9.82}, {'connected_gene': 'PALM3', 'score': 8.36}, {'connected_gene': 'PIR43598', 'score': 0.34}, {'connected_gene': 'GC19M014160', 'score': 0.34}]
chr19	GH19I014134	14134201	14135000	0.38	[{'connected_gene': 'ASF1B', 'score': 0.77}, {'connected_gene': 'PIR34894', 'score': 0.39}]