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
NM_033194	[[40274755, 40275371]]	[[40274868, 40275348]]

Promoter

Chrom	Start	End	Description
chr17	40274816	40274831	CAGE_peak_2_at_HSPB9_5end
chr17	40274836	40274859	CAGE_peak_1_at_HSPB9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I042120	42120644	42123252	1.94	[{'connected_gene': 'HSPB9', 'score': 572.78}, {'connected_gene': 'PIR31172', 'score': 550.77}, {'connected_gene': 'KAT2A', 'score': 550.77}, {'connected_gene': 'DHX58', 'score': 11.15}, {'connected_gene': 'ENSG00000267261', 'score': 0.29}]
chr17	GH17I042141	42141378	42143818	1.05	[{'connected_gene': 'DHX58', 'score': 24.25}, {'connected_gene': 'HSPB9', 'score': 6.03}, {'connected_gene': 'RAB5C', 'score': 0.39}, {'connected_gene': 'ENSG00000267261', 'score': 0.39}, {'connected_gene': 'LOC105371781', 'score': 0.39}, {'connected_gene': 'PIR31172', 'score': 0.37}]
chr17	GH17I042128	42128774	42137199	1.39	[{'connected_gene': 'DHX58', 'score': 44.14}, {'connected_gene': 'CNP', 'score': 23.74}, {'connected_gene': 'HSPB9', 'score': 22.62}, {'connected_gene': 'CNTD1', 'score': 15.62}, {'connected_gene': 'NBR2', 'score': 13.14}, {'connected_gene': 'RETREG3', 'score': 12.95}, {'connected_gene': 'RAB5C', 'score': 12.79}, {'connected_gene': 'KCNH4', 'score': 11.47}, {'connected_gene': 'HCRT', 'score': 11.45}, {'connected_gene': 'ZNF385C', 'score': 11.02}, {'connected_gene': 'DNAJC7', 'score': 10.83}, {'connected_gene': 'NKIRAS2', 'score': 10.82}, {'connected_gene': 'PLEKHH3', 'score': 9.99}, {'connected_gene': 'ENSG00000236194', 'score': 9.9}, {'connected_gene': 'KLHL11', 'score': 9.26}, {'connected_gene': 'PIR31172', 'score': 0.44}, {'connected_gene': 'ENSG00000267261', 'score': 0.34}, {'connected_gene': 'LOC105371781', 'score': 0.34}]
chr17	GH17I042088	42088458	42088468	0.78	[{'connected_gene': 'DHX58', 'score': 12.14}, {'connected_gene': 'KCNH4', 'score': 10.41}, {'connected_gene': 'HCRT', 'score': 10.41}, {'connected_gene': 'KLHL10', 'score': 5.13}, {'connected_gene': 'HSPB9', 'score': 5.1}, {'connected_gene': 'CNP', 'score': 2.41}, {'connected_gene': 'TTC25', 'score': 1.53}, {'connected_gene': 'ZNF385C', 'score': 0.39}, {'connected_gene': 'C17orf113', 'score': 0.28}]
chr17	GH17I042332	42332762	42333784	0.63	[{'connected_gene': 'CAVIN1', 'score': 12.02}, {'connected_gene': 'STAT5B', 'score': 11.8}, {'connected_gene': 'RNU7-97P', 'score': 11.16}, {'connected_gene': 'ATP6V0A1', 'score': 10.94}, {'connected_gene': 'ZNF385C', 'score': 10.42}, {'connected_gene': 'LOC105371781', 'score': 4.85}, {'connected_gene': 'HSPB9', 'score': 4.67}, {'connected_gene': 'GC17M042314', 'score': 0.37}, {'connected_gene': 'GC17M042386', 'score': 0.22}, {'connected_gene': 'STAT3', 'score': 0.22}]
chr17	GH17I042256	42256843	42262133	0.69	[{'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'ENSG00000267340', 'score': 13.58}, {'connected_gene': 'KAT2A', 'score': 12.33}, {'connected_gene': 'P3H4', 'score': 11.23}, {'connected_gene': 'CCR10', 'score': 10.63}, {'connected_gene': 'ATP6V0A1', 'score': 9.74}, {'connected_gene': 'CNP', 'score': 8.92}, {'connected_gene': 'STAT5A', 'score': 5.13}, {'connected_gene': 'HSPB9', 'score': 5.08}, {'connected_gene': 'GC17P042265', 'score': 0.44}, {'connected_gene': 'STAT5B', 'score': 0.37}, {'connected_gene': 'ENSG00000280295', 'score': 0.31}]