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_001080514	[[145321460, 145322083], [145323006, 145323386]]	[[145321516, 145322083], [145323006, 145323045]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I144296	144296729	144298428	0.2	[{'connected_gene': 'SCX', 'score': 10.84}, {'connected_gene': 'HSF1', 'score': 0.44}, {'connected_gene': 'GC08P144288', 'score': 0.44}, {'connected_gene': 'GC08P144309', 'score': 0.39}, {'connected_gene': 'PIR35534', 'score': 0.39}]
chr8	GH08I144264	144264014	144278253	1.37	[{'connected_gene': 'SCX', 'score': 550.44}, {'connected_gene': 'BOP1', 'score': 18.37}, {'connected_gene': 'C8orf82', 'score': 4.89}, {'connected_gene': 'GC08M144285', 'score': 0.37}]
chr8	GH08I144298	144298650	144299248	0.2	[{'connected_gene': 'BOP1', 'score': 14.86}, {'connected_gene': 'SCX', 'score': 11.32}, {'connected_gene': 'GC08P144309', 'score': 0.44}, {'connected_gene': 'PIR35534', 'score': 0.44}, {'connected_gene': 'HSF1', 'score': 0.44}, {'connected_gene': 'GC08P144288', 'score': 0.39}]
chr8	GH08I144290	144290426	144296378	2.19	[{'connected_gene': 'BOP1', 'score': 562.12}, {'connected_gene': 'HSF1', 'score': 550.77}, {'connected_gene': 'ZNF7', 'score': 22.44}, {'connected_gene': 'CPSF1', 'score': 17.22}, {'connected_gene': 'VPS28', 'score': 14.38}, {'connected_gene': 'ZNF623', 'score': 12.96}, {'connected_gene': 'SLC52A2', 'score': 12.75}, {'connected_gene': 'DGAT1', 'score': 12.73}, {'connected_gene': 'ENSG00000254690', 'score': 12.66}, {'connected_gene': 'COMMD5', 'score': 12.16}, {'connected_gene': 'GPAA1', 'score': 11.87}, {'connected_gene': 'FBXL6', 'score': 11.77}, {'connected_gene': 'TONSL-AS1', 'score': 11.59}, {'connected_gene': 'SCX', 'score': 11.33}, {'connected_gene': 'ADCK5', 'score': 11.23}, {'connected_gene': 'PARP10', 'score': 10.9}, {'connected_gene': 'SPATC1', 'score': 10.9}, {'connected_gene': 'ENSG00000255050', 'score': 10.81}, {'connected_gene': 'ZNF16', 'score': 10.47}, {'connected_gene': 'ZNF250', 'score': 10.42}, {'connected_gene': 'GC08P144288', 'score': 0.77}, {'connected_gene': 'GC08P144309', 'score': 0.37}, {'connected_gene': 'PIR35534', 'score': 0.37}]
chr8	GH08I144263	144263163	144263764	0.2	[{'connected_gene': 'MIR7112', 'score': 550.77}, {'connected_gene': 'SCX', 'score': 550.77}, {'connected_gene': 'BOP1', 'score': 0.31}]