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
ENST00000334815	[[45792544, 45794347]]	[[45792820, 45793936]]
NM_032756	[[45792544, 45794347]]	[[45792820, 45793936]]

Promoter

Chrom	Start	End	Description
chr1	45792519	45792537	CAGE_peak_2_at_HPDL_5end
chr1	45792541	45792555	CAGE_peak_3_at_HPDL_5end
chr1	45792558	45792579	CAGE_peak_1_at_HPDL_5end
chr1	45792598	45792608	CAGE_peak_4_at_HPDL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I045325	45325993	45330647	2.1	[{'connected_gene': 'HPDL', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 24.87}, {'connected_gene': 'LRRC41', 'score': 22.29}, {'connected_gene': 'GPBP1L1', 'score': 16.77}, {'connected_gene': 'CCDC163', 'score': 13.12}, {'connected_gene': 'RPL7AP16', 'score': 12.99}, {'connected_gene': 'NASP', 'score': 12.71}, {'connected_gene': 'MUTYH', 'score': 11.42}, {'connected_gene': 'HECTD3', 'score': 10.35}, {'connected_gene': 'MMACHC', 'score': 5.68}]
chr1	GH01I045319	45319465	45322923	0.82	[{'connected_gene': 'PRDX1', 'score': 10.12}, {'connected_gene': 'HMGB1P48', 'score': 10.12}, {'connected_gene': 'CCDC163', 'score': 8.58}, {'connected_gene': 'C1orf228', 'score': 7.54}, {'connected_gene': 'MMACHC', 'score': 4.35}, {'connected_gene': 'HPDL', 'score': 0.44}, {'connected_gene': 'ZSWIM5', 'score': 0.39}]
chr1	GH01I045334	45334309	45342237	2.3	[{'connected_gene': 'TOE1', 'score': 585.62}, {'connected_gene': 'MUTYH', 'score': 560.72}, {'connected_gene': 'GPBP1L1', 'score': 34.03}, {'connected_gene': 'LRRC41', 'score': 26.44}, {'connected_gene': 'RPL7AP16', 'score': 22.34}, {'connected_gene': 'HECTD3', 'score': 19.06}, {'connected_gene': 'PRDX1', 'score': 16.66}, {'connected_gene': 'MMACHC', 'score': 15.57}, {'connected_gene': 'CCDC163', 'score': 13.19}, {'connected_gene': 'TESK2', 'score': 11.26}, {'connected_gene': 'UROD', 'score': 4.71}, {'connected_gene': 'HPDL', 'score': 0.39}]