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
ENST00000602624	[[20978269, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987884]]	[[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987843]]
ENST00000375048	[[20978269, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20988000]]	[[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987894]]
ENST00000415136	[[20978546, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987689, 20987898]]	[[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987689, 20987894]]
ENST00000475210	[[20979126, 20979220], [20979343, 20979577]]	None
ENST00000464364	[[20981932, 20982027], [20982168, 20982272], [20987373, 20987484], [20987689, 20987881]]	[[20981932, 20982027], [20982168, 20982272], [20987373, 20987484], [20987689, 20987843]]
ENST00000477229	[[20986891, 20987484], [20987689, 20987862]]	None
NM_005216	[[20978259, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20988037]]	[[20978871, 20979021], [20979113, 20979220], [20979343, 20979464], [20980119, 20980267], [20980715, 20980864], [20981106, 20981200], [20981932, 20982027], [20982168, 20982272], [20982593, 20982680], [20987373, 20987484], [20987689, 20987894]]

Promoter

Chrom	Start	End	Description
chr1	20987851	20987888	CAGE_peak_1_at_DDOST_5end
chr1	20987889	20987906	CAGE_peak_4_at_DDOST_5end
chr1	20987936	20987969	CAGE_peak_2_at_DDOST_5end
chr1	20987982	20988007	CAGE_peak_3_at_DDOST_5end
chr1	20988011	20988022	CAGE_peak_5_at_DDOST_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I021630	21630134	21635751	1.43	[{'connected_gene': 'ZBTB40', 'score': 27.43}, {'connected_gene': 'RAP1GAP', 'score': 25.71}, {'connected_gene': 'HP1BP3', 'score': 25.68}, {'connected_gene': 'USP48', 'score': 20.85}, {'connected_gene': 'CDC42-IT1', 'score': 14.02}, {'connected_gene': 'LOC105376834', 'score': 12.52}, {'connected_gene': 'ENSG00000271428', 'score': 11.18}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'HS6ST1P1', 'score': 4.57}, {'connected_gene': 'PIR35545', 'score': 0.29}]
chr1	GH01I021658	21658992	21660000	1.48	[{'connected_gene': 'ZBTB40', 'score': 15.75}, {'connected_gene': 'HP1BP3', 'score': 14.66}, {'connected_gene': 'CDC42-IT1', 'score': 14.03}, {'connected_gene': 'USP48', 'score': 12.16}, {'connected_gene': 'ALPL', 'score': 11.52}, {'connected_gene': 'ENSG00000271428', 'score': 11.18}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'RAP1GAP', 'score': 0.44}, {'connected_gene': 'PIR35545', 'score': 0.22}]
chr1	GH01I021610	21610867	21616791	1.09	[{'connected_gene': 'ZBTB40', 'score': 15.75}, {'connected_gene': 'HP1BP3', 'score': 14.65}, {'connected_gene': 'CDC42-IT1', 'score': 14.03}, {'connected_gene': 'RAP1GAP', 'score': 12.69}, {'connected_gene': 'USP48', 'score': 12.14}, {'connected_gene': 'ENSG00000271428', 'score': 11.18}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'PIR35545', 'score': 0.39}]
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	GH01I021439	21439263	21441201	1.9	[{'connected_gene': 'NBPF3', 'score': 636.8}, {'connected_gene': 'NBPF2P', 'score': 35.6}, {'connected_gene': 'ZBTB40', 'score': 16.06}, {'connected_gene': 'CDC42-IT1', 'score': 13.86}, {'connected_gene': 'DDOST', 'score': 12.13}, {'connected_gene': 'ENSG00000271428', 'score': 11.8}, {'connected_gene': 'HP1BP3', 'score': 11.78}, {'connected_gene': 'PIR56533', 'score': 0.39}]
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	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	GH01I020474	20474162	20488000	2.76	[{'connected_gene': 'CAMK2N1', 'score': 558.12}, {'connected_gene': 'ENSG00000284743', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 43.66}, {'connected_gene': 'DDOST', 'score': 30.09}, {'connected_gene': 'OTUD3', 'score': 20.66}, {'connected_gene': 'MUL1', 'score': 19.41}, {'connected_gene': 'FAM43B', 'score': 16.74}, {'connected_gene': 'NBPF2P', 'score': 9.72}, {'connected_gene': 'ENSG00000284641', 'score': 0.77}]
chr1	GH01I021588	21588560	21589447	0.46	[{'connected_gene': 'HP1BP3', 'score': 15.19}, {'connected_gene': 'ZBTB40', 'score': 14.41}, {'connected_gene': 'LDLRAD2', 'score': 11.52}, {'connected_gene': 'HSPG2', 'score': 10.91}, {'connected_gene': 'DDOST', 'score': 10.26}, {'connected_gene': 'LOC105376834', 'score': 6.55}, {'connected_gene': 'CELA3B', 'score': 5.63}, {'connected_gene': 'RAP1GAP', 'score': 5.1}, {'connected_gene': 'PIR35545', 'score': 0.39}]
chr1	GH01I021368	21368400	21368801	1.16	[{'connected_gene': 'HP1BP3', 'score': 25.92}, {'connected_gene': 'CDC42-IT1', 'score': 14.0}, {'connected_gene': 'USP48', 'score': 12.08}, {'connected_gene': 'ECE1', 'score': 11.93}, {'connected_gene': 'ENSG00000236936', 'score': 11.8}, {'connected_gene': 'ENSG00000271428', 'score': 11.16}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'PPP1R11P1', 'score': 0.31}]
chr1	GH01I021331	21331602	21346770	2.9	[{'connected_gene': 'ECE1', 'score': 584.18}, {'connected_gene': 'HP1BP3', 'score': 100.88}, {'connected_gene': 'NBPF3', 'score': 64.56}, {'connected_gene': 'USP48', 'score': 59.01}, {'connected_gene': 'NBPF2P', 'score': 51.3}, {'connected_gene': 'CDC42-IT1', 'score': 20.29}, {'connected_gene': 'LDLRAD2', 'score': 11.49}, {'connected_gene': 'ENSG00000236936', 'score': 11.44}, {'connected_gene': 'HSPG2', 'score': 10.89}, {'connected_gene': 'MUL1', 'score': 10.78}, {'connected_gene': 'ENSG00000271428', 'score': 10.65}, {'connected_gene': 'DDOST', 'score': 10.26}, {'connected_gene': 'ALPL', 'score': 6.03}, {'connected_gene': 'EIF4G3', 'score': 4.9}, {'connected_gene': 'LOC100506801', 'score': 0.25}]
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	GH01I020665	20665801	20666000	0.31	[{'connected_gene': 'DDOST', 'score': 0.77}, {'connected_gene': 'GC01P020654', 'score': 0.39}, {'connected_gene': 'ENSG00000235432', 'score': 0.31}, {'connected_gene': 'KIF17', 'score': 0.23}]
chr1	GH01I020666	20666904	20667065	0.68	[{'connected_gene': 'DDOST', 'score': 0.44}, {'connected_gene': 'ENSG00000235432', 'score': 0.31}, {'connected_gene': 'KIF17', 'score': 0.23}]
chr1	GH01I020660	20660301	20662772	2.05	[{'connected_gene': 'DDOST', 'score': 556.56}, {'connected_gene': 'HP1BP3', 'score': 12.09}, {'connected_gene': 'GC01P020654', 'score': 0.44}, {'connected_gene': 'KIF17', 'score': 0.22}]
chr1	GH01I020578	20578740	20579733	0.2	[{'connected_gene': 'FAM43B', 'score': 11.24}, {'connected_gene': 'CAMK2N1', 'score': 9.78}, {'connected_gene': 'DDOST', 'score': 6.62}, {'connected_gene': 'CDA', 'score': 0.44}]