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_006158	[[24808467, 24810465], [24810988, 24811064], [24811065, 24811309], [24811694, 24811819], [24812985, 24814383]]	[[24810322, 24810465], [24810988, 24811064], [24811065, 24811309], [24811694, 24811819], [24812985, 24814029]]

Promoter

Chrom	Start	End	Description
chr8	24809278	24809290	CAGE_peak_7_at_NEFL_5end
chr8	24809300	24809311	CAGE_peak_4_at_NEFL_5end
chr8	24809946	24809957	CAGE_peak_2_at_NEFL_5end
chr8	24810011	24810022	CAGE_peak_3_at_NEFL_5end
chr8	24814118	24814133	CAGE_peak_1_at_NEFL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I024766	24766933	24766983	0.22	[{'connected_gene': 'NEFL', 'score': 2.26}, {'connected_gene': 'NEFM', 'score': 1.78}, {'connected_gene': 'GC08M024686', 'score': 0.18}, {'connected_gene': 'PIR40819', 'score': 0.15}, {'connected_gene': 'ENSG00000253535', 'score': 0.11}]
chr8	GH08I024955	24955001	24956970	1.63	[{'connected_gene': 'NEFL', 'score': 555.42}, {'connected_gene': 'PIR37905', 'score': 550.77}, {'connected_gene': 'ENSG00000272157', 'score': 550.77}, {'connected_gene': 'NEFM', 'score': 11.69}, {'connected_gene': 'ENSG00000253535', 'score': 11.69}, {'connected_gene': 'GC08M024931', 'score': 0.15}]
chr8	GH08I024941	24941430	24942800	1.12	[{'connected_gene': 'NEFM', 'score': 26.5}, {'connected_gene': 'ENSG00000253535', 'score': 11.2}, {'connected_gene': 'NEFL', 'score': 6.57}, {'connected_gene': 'PIR55047', 'score': 0.39}, {'connected_gene': 'LOC105379329', 'score': 0.37}, {'connected_gene': 'GC08M024931', 'score': 0.13}]