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
ENST00000321556	[[20959947, 20960428], [20964334, 20964622], [20966384, 20966485], [20970982, 20971165], [20972052, 20972216], [20974997, 20975125], [20975487, 20975724], [20976926, 20978004]]	[[20960041, 20960428], [20964334, 20964622], [20966384, 20966485], [20970982, 20971165], [20972052, 20972216], [20974997, 20975125], [20975487, 20975724], [20976926, 20977184]]
ENST00000492302	[[20964621, 20966485], [20970982, 20971165], [20972052, 20972216], [20974997, 20975724], [20976926, 20977809]]	None
ENST00000400490	[[20972000, 20972216], [20974997, 20975125], [20975487, 20975724], [20976926, 20978003]]	None
NM_032409	[[20959947, 20960428], [20964334, 20964622], [20966384, 20966485], [20970982, 20971165], [20972052, 20972216], [20974997, 20975125], [20975487, 20975724], [20976926, 20978004]]	[[20960041, 20960428], [20964334, 20964622], [20966384, 20966485], [20970982, 20971165], [20972052, 20972216], [20974997, 20975125], [20975487, 20975724], [20976926, 20977184]]

Promoter

Chrom	Start	End	Description
chr1	20959928	20959933	CAGE_peak_6_at_PINK1_5end
chr1	20959943	20959992	CAGE_peak_1_at_PINK1_5end
chr1	20960001	20960008	CAGE_peak_2_at_PINK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I020624	20624464	20626889	0.54	[{'connected_gene': 'CDA', 'score': 22.73}, {'connected_gene': 'PINK1', 'score': 5.43}, {'connected_gene': 'CAMK2N1', 'score': 5.08}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1	GH01I020601	20601201	20605429	1.42	[{'connected_gene': 'CDA', 'score': 26.94}, {'connected_gene': 'PINK1', 'score': 13.09}, {'connected_gene': 'HP1BP3', 'score': 11.28}, {'connected_gene': 'DDOST', 'score': 10.01}, {'connected_gene': 'GC01P020619', 'score': 0.37}]
chr1	GH01I020588	20588261	20591800	1.75	[{'connected_gene': 'CDA', 'score': 577.98}, {'connected_gene': 'PINK1', 'score': 17.89}, {'connected_gene': 'FAM43B', 'score': 11.22}, {'connected_gene': 'MUL1', 'score': 9.99}, {'connected_gene': 'GC01P020619', 'score': 0.31}]
chr1	GH01I020575	20575348	20575517	1.13	[{'connected_gene': 'PINK1', 'score': 12.29}, {'connected_gene': 'CDA', 'score': 11.8}, {'connected_gene': 'MUL1', 'score': 10.73}, {'connected_gene': 'FAM43B', 'score': 0.34}]
chr1	GH01I020610	20610902	20615067	1.32	[{'connected_gene': 'PINK1', 'score': 37.46}, {'connected_gene': 'CDA', 'score': 34.21}, {'connected_gene': 'OTUD3', 'score': 13.3}, {'connected_gene': 'FAM43B', 'score': 11.41}, {'connected_gene': 'DDOST', 'score': 5.15}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1	GH01I020609	20609452	20610297	0.2	[{'connected_gene': 'PINK1', 'score': 36.31}, {'connected_gene': 'CDA', 'score': 33.76}, {'connected_gene': 'FAM43B', 'score': 11.42}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1	GH01I020605	20605549	20607816	0.54	[{'connected_gene': 'PINK1', 'score': 23.18}, {'connected_gene': 'CDA', 'score': 22.53}, {'connected_gene': 'GC01P020619', 'score': 0.39}]
chr1	GH01I020576	20576448	20576597	0.31	[{'connected_gene': 'PINK1', 'score': 12.29}, {'connected_gene': 'MUL1', 'score': 10.73}, {'connected_gene': 'CDA', 'score': 0.39}, {'connected_gene': 'FAM43B', 'score': 0.34}]
chr1	GH01I020678	20678601	20679200	0.69	[{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.12}, {'connected_gene': 'ENSG00000233069', 'score': 11.12}, {'connected_gene': 'CDA', 'score': 9.63}, {'connected_gene': 'MUL1', 'score': 6.22}, {'connected_gene': 'DDOST', 'score': 0.37}, {'connected_gene': 'ENSG00000235432', 'score': 0.37}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1	GH01I020682	20682601	20683200	0.43	[{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.14}, {'connected_gene': 'ENSG00000233069', 'score': 11.14}, {'connected_gene': 'ENSG00000235432', 'score': 0.39}, {'connected_gene': 'DDOST', 'score': 0.34}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1	GH01I020683	20683852	20686404	0.66	[{'connected_gene': 'PINK1', 'score': 11.39}, {'connected_gene': 'SH2D5', 'score': 11.14}, {'connected_gene': 'ENSG00000233069', 'score': 11.14}, {'connected_gene': 'UBXN10-AS1', 'score': 6.14}, {'connected_gene': 'EIF4G3', 'score': 4.29}, {'connected_gene': 'ENSG00000235432', 'score': 0.44}, {'connected_gene': 'DDOST', 'score': 0.34}, {'connected_gene': 'KIF17', 'score': 0.29}]
chr1	GH01I020632	20632788	20635240	2.01	[{'connected_gene': 'PINK1', 'score': 580.42}, {'connected_gene': 'MIR6084', 'score': 550.77}, {'connected_gene': 'CDA', 'score': 22.76}, {'connected_gene': 'PIR40855', 'score': 0.77}]
chr1	GH01I020366	20366634	20366709	0.52	[{'connected_gene': 'KIF17', 'score': 8.46}, {'connected_gene': 'PINK1', 'score': 1.64}, {'connected_gene': 'GC01P020350', 'score': 0.37}, {'connected_gene': 'PIR44198', 'score': 0.28}, {'connected_gene': 'LINC01141', 'score': 0.21}]
chr1	GH01I020428	20428299	20431350	0.75	[{'connected_gene': 'LINC01141', 'score': 550.77}, {'connected_gene': 'MUL1', 'score': 10.84}, {'connected_gene': 'ENSG00000226664', 'score': 10.31}, {'connected_gene': 'VWA5B1', 'score': 10.25}, {'connected_gene': 'PINK1', 'score': 4.72}, {'connected_gene': 'ENSG00000226487', 'score': 0.37}]
chr1	GH01I020659	20659788	20659937	0.2	[{'connected_gene': 'DDOST', 'score': 550.77}, {'connected_gene': 'PINK1', 'score': 12.01}, {'connected_gene': 'FAM43B', 'score': 10.45}, {'connected_gene': 'GC01P020654', 'score': 0.44}]
chr1	GH01I020640	20640208	20640357	0.64	[{'connected_gene': 'PIR39430', 'score': 550.77}, {'connected_gene': 'PINK1', 'score': 0.44}, {'connected_gene': 'PINK1-AS', 'score': 0.39}]