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
ENST00000446507	[[42883726, 42883865], [42891966, 42892011], [42892998, 42893573]]	[[42883807, 42883865], [42891966, 42892011], [42892998, 42893420]]
ENST00000441198	[[42883726, 42883865], [42889955, 42889998], [42890882, 42891085], [42891966, 42892011], [42892998, 42893573]]	[[42883807, 42883865], [42889955, 42889998], [42890882, 42891085], [42891966, 42892011], [42892998, 42893420]]
ENST00000304672	[[42883726, 42883865], [42890764, 42891085], [42891966, 42892011], [42892998, 42893573]]	[[42883807, 42883865], [42890764, 42891085], [42891966, 42892011], [42892998, 42893420]]
NM_001243170	[[42883726, 42883865], [42891966, 42892011], [42892998, 42893576]]	[[42883807, 42883865], [42891966, 42892011], [42892998, 42893420]]
NM_138296	[[42883726, 42883865], [42890764, 42891085], [42891966, 42892011], [42892998, 42893576]]	[[42883807, 42883865], [42890764, 42891085], [42891966, 42892011], [42892998, 42893420]]
NM_001243168	[[42883726, 42883865], [42890764, 42891085], [42891966, 42892011], [42892953, 42893576]]	[[42883807, 42883865], [42890764, 42891085], [42891966, 42892011], [42892953, 42893420]]
NM_001243169	[[42883726, 42883865], [42889955, 42889998], [42890882, 42891085], [42891966, 42892011], [42892998, 42893576]]	[[42883807, 42883865], [42889955, 42889998], [42890882, 42891085], [42891966, 42892011], [42892998, 42893420]]

Promoter

Chrom	Start	End	Description
chr6	42883729	42883740	CAGE_peak_2_at_PTCRA_5end
chr6	42883784	42883804	CAGE_peak_1_at_PTCRA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I042910	42910703	42912472	0.97	[{'connected_gene': 'PEX6', 'score': 32.77}, {'connected_gene': 'RPL7L1', 'score': 26.57}, {'connected_gene': 'ENSG00000231113', 'score': 11.81}, {'connected_gene': 'PPP2R5D', 'score': 10.49}, {'connected_gene': 'KLHDC3', 'score': 10.45}, {'connected_gene': 'MEA1', 'score': 10.44}, {'connected_gene': 'RNU6-890P', 'score': 10.34}, {'connected_gene': 'PTCRA', 'score': 0.77}, {'connected_gene': 'LOC105375063', 'score': 0.44}]
chr6	GH06I042909	42909826	42910341	0.49	[{'connected_gene': 'RPL7L1', 'score': 23.2}, {'connected_gene': 'ENSG00000231113', 'score': 11.79}, {'connected_gene': 'PEX6', 'score': 11.46}, {'connected_gene': 'PPP2R5D', 'score': 10.49}, {'connected_gene': 'KLHDC3', 'score': 10.45}, {'connected_gene': 'MEA1', 'score': 10.44}, {'connected_gene': 'RNU6-890P', 'score': 10.34}, {'connected_gene': 'LOC105375063', 'score': 0.44}, {'connected_gene': 'PTCRA', 'score': 0.44}]
chr6	GH06I042923	42923401	42924600	0.91	[{'connected_gene': 'RPL7L1', 'score': 25.42}, {'connected_gene': 'RPL24P4', 'score': 12.15}, {'connected_gene': 'PEX6', 'score': 11.28}, {'connected_gene': 'PPP2R5D', 'score': 11.13}, {'connected_gene': 'MEA1', 'score': 10.79}, {'connected_gene': 'KLHDC3', 'score': 10.79}, {'connected_gene': 'KLC4', 'score': 10.73}, {'connected_gene': 'CUL7', 'score': 10.56}, {'connected_gene': 'RN7SL403P', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 10.46}, {'connected_gene': 'DLK2', 'score': 9.2}, {'connected_gene': 'GC06P042927', 'score': 0.77}, {'connected_gene': 'PTCRA', 'score': 0.44}]
chr6	GH06I042916	42916004	42916063	0.81	[{'connected_gene': 'PTCRA', 'score': 550.77}, {'connected_gene': 'ENSG00000231113', 'score': 12.21}, {'connected_gene': 'PPP2R5D', 'score': 11.59}, {'connected_gene': 'RPL7L1', 'score': 11.16}, {'connected_gene': 'C6orf226', 'score': 10.95}, {'connected_gene': 'PEX6', 'score': 10.88}, {'connected_gene': 'KLHDC3', 'score': 10.53}, {'connected_gene': 'MEA1', 'score': 10.53}, {'connected_gene': 'CUL9', 'score': 10.2}, {'connected_gene': 'RNU6-890P', 'score': 9.76}, {'connected_gene': 'GC06P042927', 'score': 0.39}]
chr6	GH06I042901	42901401	42904700	1.37	[{'connected_gene': 'LOC105375063', 'score': 550.77}, {'connected_gene': 'RPL7L1', 'score': 33.13}, {'connected_gene': 'PEX6', 'score': 15.2}, {'connected_gene': 'CNPY3', 'score': 12.31}, {'connected_gene': 'ENSG00000231113', 'score': 12.28}, {'connected_gene': 'PPP2R5D', 'score': 11.92}, {'connected_gene': 'KLC4', 'score': 11.2}, {'connected_gene': 'RN7SL403P', 'score': 11.19}, {'connected_gene': 'CUL7', 'score': 11.18}, {'connected_gene': 'MEA1', 'score': 10.78}, {'connected_gene': 'KLHDC3', 'score': 10.78}, {'connected_gene': 'RNU6-890P', 'score': 10.27}, {'connected_gene': 'PTCRA', 'score': 0.39}]
chr6	GH06I042925	42925064	42926987	0.54	[{'connected_gene': 'GC06P042927', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 33.58}, {'connected_gene': 'MEA1', 'score': 20.33}, {'connected_gene': 'RPL24P4', 'score': 12.15}, {'connected_gene': 'PPP2R5D', 'score': 11.14}, {'connected_gene': 'KLHDC3', 'score': 10.8}, {'connected_gene': 'KLC4', 'score': 10.74}, {'connected_gene': 'CUL7', 'score': 10.56}, {'connected_gene': 'RN7SL403P', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.07}, {'connected_gene': 'DLK2', 'score': 9.2}, {'connected_gene': 'C6orf226', 'score': 6.27}, {'connected_gene': 'PTCRA', 'score': 0.39}]
chr6	GH06I042912	42912928	42913485	0.31	[{'connected_gene': 'ENSG00000231113', 'score': 11.81}, {'connected_gene': 'PEX6', 'score': 11.46}, {'connected_gene': 'RPL7L1', 'score': 10.95}, {'connected_gene': 'PPP2R5D', 'score': 10.49}, {'connected_gene': 'MEA1', 'score': 10.45}, {'connected_gene': 'KLHDC3', 'score': 10.45}, {'connected_gene': 'RNU6-890P', 'score': 10.34}, {'connected_gene': 'PTCRA', 'score': 0.77}, {'connected_gene': 'LOC105375063', 'score': 0.39}]