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
ENST00000341505	[[45281125, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303707], [45303807, 45303891]]	[[45281188, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303700]]
ENST00000270279	[[45281125, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45287520, 45287658], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303707], [45303807, 45303891]]	[[45281188, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45287520, 45287658], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303700]]
NM_001130852	[[45281125, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303707], [45303807, 45303903]]	[[45281188, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303700]]
NM_012116	[[45281125, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45287520, 45287658], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303707], [45303807, 45303903]]	[[45281188, 45281541], [45284161, 45284308], [45284463, 45284620], [45285626, 45285748], [45287520, 45287658], [45293260, 45293348], [45295639, 45295771], [45296730, 45296877], [45297460, 45297538], [45303637, 45303700]]

Promoter

Chrom	Start	End	Description
chr19	45281118	45281181	CAGE_peak_1_at_CBLC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I044740	44740340	44759694	2.84	[{'connected_gene': 'BCL3', 'score': 577.97}, {'connected_gene': 'ZNF45', 'score': 75.12}, {'connected_gene': 'ZNF224', 'score': 69.6}, {'connected_gene': 'ZNF155', 'score': 65.17}, {'connected_gene': 'ZNF180', 'score': 63.19}, {'connected_gene': 'ZNF284', 'score': 57.57}, {'connected_gene': 'ZNF225', 'score': 50.99}, {'connected_gene': 'ZNF234', 'score': 48.43}, {'connected_gene': 'CLASRP', 'score': 47.89}, {'connected_gene': 'ZNF235', 'score': 43.64}, {'connected_gene': 'ZNF283', 'score': 38.74}, {'connected_gene': 'ZNF227', 'score': 37.51}, {'connected_gene': 'ZNF221', 'score': 34.5}, {'connected_gene': 'ZNF230', 'score': 32.11}, {'connected_gene': 'ZNF226', 'score': 30.44}, {'connected_gene': 'ZNF223', 'score': 29.89}, {'connected_gene': 'RELB', 'score': 29.78}, {'connected_gene': 'FBXO46', 'score': 24.67}, {'connected_gene': 'ZNF112', 'score': 24.27}, {'connected_gene': 'ENSG00000267114', 'score': 19.2}, {'connected_gene': 'MRPS15P2', 'score': 17.65}, {'connected_gene': 'LOC100505715', 'score': 12.53}, {'connected_gene': 'ZNF285', 'score': 10.89}, {'connected_gene': 'ZNF404', 'score': 10.6}, {'connected_gene': 'ZNF222', 'score': 10.54}, {'connected_gene': 'ENSG00000267191', 'score': 9.82}, {'connected_gene': 'ENSG00000266903', 'score': 7.69}, {'connected_gene': 'CBLC', 'score': 5.4}, {'connected_gene': 'NECTIN2', 'score': 4.91}, {'connected_gene': 'BLOC1S3', 'score': 1.74}, {'connected_gene': 'ZNF296', 'score': 1.09}, {'connected_gene': 'GC19M044758', 'score': 0.44}, {'connected_gene': 'MIR8085', 'score': 0.44}, {'connected_gene': 'GC19M044733', 'score': 0.18}]
chr19	GH19I044767	44767524	44768400	1.32	[{'connected_gene': 'RELB', 'score': 16.32}, {'connected_gene': 'BCL3', 'score': 13.32}, {'connected_gene': 'CLASRP', 'score': 6.74}, {'connected_gene': 'BLOC1S3', 'score': 1.13}, {'connected_gene': 'ENSG00000236807', 'score': 0.77}, {'connected_gene': 'CBLC', 'score': 0.44}, {'connected_gene': 'GC19M044733', 'score': 0.21}]
chr19	GH19I044772	44772349	44779072	2.1	[{'connected_gene': 'CBLC', 'score': 563.8}, {'connected_gene': 'CEACAM19', 'score': 3.75}, {'connected_gene': 'BCAM', 'score': 1.96}, {'connected_gene': 'GC19M044777', 'score': 0.77}, {'connected_gene': 'ENSG00000236807', 'score': 0.39}, {'connected_gene': 'GC19M044733', 'score': 0.23}]
chr19	GH19I044780	44780658	44781532	0.31	[{'connected_gene': 'CBLC', 'score': 5.1}, {'connected_gene': 'GC19M044777', 'score': 0.77}, {'connected_gene': 'PIR44195', 'score': 0.34}, {'connected_gene': 'GC19M044733', 'score': 0.25}]
chr19	GH19I045418	45418801	45420800	1.18	[{'connected_gene': 'CD3EAP', 'score': 25.43}, {'connected_gene': 'CBLC', 'score': 4.87}, {'connected_gene': 'PIR48099', 'score': 0.77}, {'connected_gene': 'MIR6088', 'score': 0.37}, {'connected_gene': 'ERCC1', 'score': 0.22}]
chr19	GH19I044716	44716668	44716855	0.43	[{'connected_gene': 'ENSG00000266903', 'score': 568.64}, {'connected_gene': 'BCL3', 'score': 12.93}, {'connected_gene': 'ENSG00000236807', 'score': 12.88}, {'connected_gene': 'ENSG00000253027', 'score': 12.88}, {'connected_gene': 'CBLC', 'score': 12.85}, {'connected_gene': 'CEACAM16', 'score': 0.37}]
chr19	GH19I044800	44800020	44800801	1.14	[{'connected_gene': 'ENSG00000252200', 'score': 11.81}, {'connected_gene': 'RELB', 'score': 10.43}, {'connected_gene': 'BCAM', 'score': 7.62}, {'connected_gene': 'PIR44195', 'score': 0.77}, {'connected_gene': 'GC19M044777', 'score': 0.34}, {'connected_gene': 'CBLC', 'score': 0.34}, {'connected_gene': 'GC19M044733', 'score': 0.29}]
chr19	GH19I044796	44796218	44797585	1.06	[{'connected_gene': 'ENSG00000252200', 'score': 11.81}, {'connected_gene': 'RELB', 'score': 10.43}, {'connected_gene': 'PIR44195', 'score': 0.44}, {'connected_gene': 'GC19M044777', 'score': 0.37}, {'connected_gene': 'CBLC', 'score': 0.37}, {'connected_gene': 'GC19M044733', 'score': 0.29}]
chr19	GH19I044784	44784004	44785000	1.02	[{'connected_gene': 'GC19M044777', 'score': 0.44}, {'connected_gene': 'CBLC', 'score': 0.44}, {'connected_gene': 'PIR44195', 'score': 0.37}, {'connected_gene': 'GC19M044733', 'score': 0.25}]
chr19	GH19I044782	44782115	44782687	0.31	[{'connected_gene': 'GC19M044777', 'score': 0.77}, {'connected_gene': 'CBLC', 'score': 0.77}, {'connected_gene': 'PIR44195', 'score': 0.34}, {'connected_gene': 'GC19M044733', 'score': 0.25}]
chr19	GH19I044779	44779201	44779400	0.4	[{'connected_gene': 'GC19M044777', 'score': 550.77}, {'connected_gene': 'CBLC', 'score': 550.77}, {'connected_gene': 'PIR44195', 'score': 0.34}, {'connected_gene': 'GC19M044733', 'score': 0.23}]
chr19	GH19I044765	44764311	44766915	1.3	[{'connected_gene': 'ENSG00000236807', 'score': 550.77}, {'connected_gene': 'ENSG00000253027', 'score': 550.77}, {'connected_gene': 'CBLC', 'score': 0.39}, {'connected_gene': 'GC19M044733', 'score': 0.21}]
chr19	GH19I044769	44769937	44771373	1.27	[{'connected_gene': 'ENSG00000236807', 'score': 0.44}, {'connected_gene': 'CBLC', 'score': 0.44}, {'connected_gene': 'GC19M044733', 'score': 0.22}]