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
ENST00000379847	[[32552996, 32553942], [32558907, 32558952], [32570957, 32571050], [32572878, 32573160]]	[[32553873, 32553942], [32558907, 32558952], [32570957, 32571050], [32572878, 32573058]]
ENST00000350021	[[32553648, 32553942], [32570957, 32571050], [32572878, 32573157]]	[[32553873, 32553942], [32570957, 32571050], [32572878, 32573058]]
NM_002493	[[32553523, 32553942], [32558907, 32558952], [32570957, 32571050], [32572878, 32573182]]	[[32553873, 32553942], [32558907, 32558952], [32570957, 32571050], [32572878, 32573058]]
NM_182739	[[32553523, 32553942], [32570957, 32571050], [32572878, 32573182]]	[[32553873, 32553942], [32570957, 32571050], [32572878, 32573058]]
NM_001199987	[[32553523, 32553942], [32558907, 32558952], [32572878, 32573182]]	[[32553873, 32553942], [32558907, 32558952], [32572878, 32573058]]

Promoter

Chrom	Start	End	Description
chr9	32573072	32573098	CAGE_peak_2_at_NDUFB6_5end
chr9	32573105	32573124	CAGE_peak_3_at_NDUFB6_5end
chr9	32573130	32573167	CAGE_peak_1_at_NDUFB6_5end
chr9	32573171	32573187	CAGE_peak_4_at_NDUFB6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I032422	32422156	32428674	1.28	[{'connected_gene': 'ACO1', 'score': 19.31}, {'connected_gene': 'NDUFB6', 'score': 11.34}, {'connected_gene': 'TMEM215', 'score': 9.76}, {'connected_gene': 'DDX58', 'score': 6.06}, {'connected_gene': 'LOC105376014', 'score': 0.31}]
chr9	GH09I032581	32581683	32581792	0.54	[{'connected_gene': 'ACO1', 'score': 11.69}, {'connected_gene': 'NDUFB6', 'score': 0.44}, {'connected_gene': 'LOC105376015', 'score': 0.31}]
chr9	GH09I032579	32579843	32579992	0.62	[{'connected_gene': 'ACO1', 'score': 11.69}, {'connected_gene': 'NDUFB6', 'score': 0.44}, {'connected_gene': 'LOC105376015', 'score': 0.31}]
chr9	GH09I032604	32604303	32604472	0.73	[{'connected_gene': 'ACO1', 'score': 10.75}, {'connected_gene': 'TMEM215', 'score': 9.96}, {'connected_gene': 'LOC105376015', 'score': 0.77}, {'connected_gene': 'NDUFB6', 'score': 0.29}]
chr9	GH09I032382	32382259	32385601	2.15	[{'connected_gene': 'ACO1', 'score': 560.0}, {'connected_gene': 'TOPORS', 'score': 21.01}, {'connected_gene': 'ASS1P12', 'score': 14.35}, {'connected_gene': 'SMU1', 'score': 14.13}, {'connected_gene': 'DFFBP1', 'score': 13.82}, {'connected_gene': 'NDUFB6', 'score': 12.61}, {'connected_gene': 'NFX1', 'score': 11.39}, {'connected_gene': 'TCEA1P4', 'score': 10.28}, {'connected_gene': 'ENSG00000223440', 'score': 10.16}, {'connected_gene': 'SLC25A5P8', 'score': 0.25}]
chr9	GH09I032571	32571434	32574211	2.04	[{'connected_gene': 'NDUFB6', 'score': 560.54}, {'connected_gene': 'SMU1', 'score': 34.14}, {'connected_gene': 'DFFBP1', 'score': 23.49}, {'connected_gene': 'DDX58', 'score': 22.61}, {'connected_gene': 'TOPORS', 'score': 20.87}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'DNAJA1', 'score': 10.05}, {'connected_gene': 'APTX', 'score': 10.05}, {'connected_gene': 'ASS1P12', 'score': 9.83}]
chr9	GH09I032378	32378518	32379000	0.96	[{'connected_gene': 'NDUFB6', 'score': 12.6}, {'connected_gene': 'ACO1', 'score': 5.26}, {'connected_gene': 'SLC25A5P8', 'score': 0.26}]
chr9	GH09I032379	32379201	32379601	1.07	[{'connected_gene': 'NDUFB6', 'score': 12.6}, {'connected_gene': 'ACO1', 'score': 6.55}, {'connected_gene': 'SLC25A5P8', 'score': 0.26}]
chr9	GH09I033430	33430704	33431843	0.84	[{'connected_gene': 'AQP3', 'score': 23.0}, {'connected_gene': 'AQP7', 'score': 7.09}, {'connected_gene': 'NDUFB6', 'score': 4.48}, {'connected_gene': 'PIR43065', 'score': 0.31}]
chr9	GH09I032523	32523525	32527799	2.23	[{'connected_gene': 'DDX58', 'score': 572.09}, {'connected_gene': 'NDUFB6', 'score': 11.49}, {'connected_gene': 'ACO1', 'score': 10.28}, {'connected_gene': 'NFX1', 'score': 5.73}, {'connected_gene': 'LOC101060445', 'score': 0.2}]
chr9	GH09I032558	32558601	32559399	0.63	[{'connected_gene': 'DDX58', 'score': 12.93}, {'connected_gene': 'TOPORS', 'score': 0.44}, {'connected_gene': 'SMIM27', 'score': 0.44}, {'connected_gene': 'DFFBP1', 'score': 0.44}, {'connected_gene': 'NDUFB6', 'score': 0.39}]
chr9	GH09I032560	32560660	32561316	0.31	[{'connected_gene': 'DDX58', 'score': 12.93}, {'connected_gene': 'TOPORS', 'score': 0.44}, {'connected_gene': 'SMIM27', 'score': 0.44}, {'connected_gene': 'DFFBP1', 'score': 0.44}, {'connected_gene': 'NDUFB6', 'score': 0.39}]
chr9	GH09I032549	32549865	32554977	2.28	[{'connected_gene': 'TOPORS', 'score': 563.4}, {'connected_gene': 'SMIM27', 'score': 550.77}, {'connected_gene': 'NFX1', 'score': 16.62}, {'connected_gene': 'TCEA1P4', 'score': 13.35}, {'connected_gene': 'NDUFB6', 'score': 12.37}, {'connected_gene': 'SMU1', 'score': 11.29}, {'connected_gene': 'ASS1P12', 'score': 10.63}, {'connected_gene': 'NOL6', 'score': 10.24}, {'connected_gene': 'DDX58', 'score': 4.81}]
chr9	GH09I033197	33197352	33198555	0.63	[{'connected_gene': 'B4GALT1-AS1', 'score': 11.83}, {'connected_gene': 'B4GALT1', 'score': 11.83}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.47}, {'connected_gene': 'BAG1', 'score': 10.88}, {'connected_gene': 'CHMP5', 'score': 10.88}, {'connected_gene': 'NDUFB6', 'score': 6.33}, {'connected_gene': 'GC09P033176', 'score': 0.34}, {'connected_gene': 'SPINK4', 'score': 0.34}, {'connected_gene': 'GC09M033166', 'score': 0.15}, {'connected_gene': 'GC09M033168', 'score': 0.15}, {'connected_gene': 'GC09M033167', 'score': 0.15}]