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
ENST00000323570	[[141445311, 141445434], [141446573, 141446724], [141448619, 141448648], [141456886, 141456984], [141458565, 141458695], [141461321, 141461455], [141463727, 141463796], [141464606, 141464740], [141471383, 141474924]]	[[141446582, 141446724], [141448619, 141448648], [141456886, 141456984], [141458565, 141458695], [141461321, 141461455], [141463727, 141463796], [141464606, 141464740], [141471383, 141471529]]
ENST00000511887	[[141445321, 141445434], [141446573, 141446724], [141448619, 141449106]]	[[141446582, 141446724], [141448619, 141448657]]
ENST00000507667	[[141445335, 141445815], [141446573, 141446687]]	[[141446582, 141446687]]
ENST00000503541	[[141445371, 141446724], [141448619, 141449105]]	None
ENST00000502397	[[141445589, 141445815], [141446573, 141446724], [141448619, 141448648], [141456886, 141456984], [141458565, 141458695], [141461321, 141461425]]	[[141446582, 141446724], [141448619, 141448648], [141456886, 141456984], [141458565, 141458695], [141461321, 141461425]]
ENST00000513606	[[141447795, 141447951], [141448619, 141448648], [141456886, 141456984], [141458565, 141458695], [141461321, 141461443]]	[[141456946, 141456984], [141458565, 141458695], [141461321, 141461443]]
ENST00000512057	[[141456570, 141456984], [141458565, 141458695], [141461321, 141461455], [141463727, 141463796], [141464606, 141464626]]	None
ENST00000502290	[[141463578, 141463796], [141464606, 141464740], [141471383, 141471589]]	None
NM_153702	[[141445311, 141445434], [141446573, 141446724], [141448619, 141448648], [141456886, 141456984], [141458565, 141458695], [141461321, 141461455], [141463727, 141463796], [141464606, 141464740], [141471383, 141474924]]	[[141446582, 141446724], [141448619, 141448648], [141456886, 141456984], [141458565, 141458695], [141461321, 141461455], [141463727, 141463796], [141464606, 141464740], [141471383, 141471529]]

Promoter

Chrom	Start	End	Description
chr4	141445311	141445332	CAGE_peak_1_at_ELMOD2_5end
chr4	141445333	141445362	CAGE_peak_2_at_ELMOD2_5end
chr4	141445363	141445380	CAGE_peak_3_at_ELMOD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I140567	140567801	140568200	0.31	[{'connected_gene': 'UCP1', 'score': 550.77}, {'connected_gene': 'CLGN', 'score': 6.18}, {'connected_gene': 'ELMOD2', 'score': 0.26}]
chr4	GH04I140556	140556847	140556936	0.67	[{'connected_gene': 'UCP1', 'score': 0.39}, {'connected_gene': 'ELMOD2', 'score': 0.29}]
chr4	GH04I140342	140342735	140344139	1.09	[{'connected_gene': 'SCOC', 'score': 550.17}, {'connected_gene': 'CLGN', 'score': 22.94}, {'connected_gene': 'MAML3', 'score': 15.85}, {'connected_gene': 'ELMOD2', 'score': 11.6}, {'connected_gene': 'RPL14P3', 'score': 0.34}, {'connected_gene': 'SCOC-AS1', 'score': 0.31}, {'connected_gene': 'NDUFB4P9', 'score': 0.31}]
chr4	GH04I141131	141131242	141135075	1.95	[{'connected_gene': 'RNF150', 'score': 550.18}, {'connected_gene': 'ZNF330', 'score': 16.35}, {'connected_gene': 'ELMOD2', 'score': 15.32}, {'connected_gene': 'MAML3', 'score': 10.5}, {'connected_gene': 'GC04M141077', 'score': 0.26}, {'connected_gene': 'GC04P141205', 'score': 0.19}]
chr4	GH04I140078	140078083	140079179	1.06	[{'connected_gene': 'MAML3', 'score': 27.83}, {'connected_gene': 'ELF2', 'score': 14.05}, {'connected_gene': 'ELMOD2', 'score': 12.67}, {'connected_gene': 'LOC101927516', 'score': 11.85}, {'connected_gene': 'MGARP', 'score': 9.76}, {'connected_gene': 'TNRC18P1', 'score': 9.71}, {'connected_gene': 'GC04M140002', 'score': 0.19}]
chr4	GH04I140148	140148111	140155174	2.6	[{'connected_gene': 'MAML3', 'score': 571.66}, {'connected_gene': 'GC04M140150', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 19.12}, {'connected_gene': 'ELMOD2', 'score': 13.94}, {'connected_gene': 'LOC101927516', 'score': 12.05}]
chr4	GH04I140529	140529190	140530176	0.95	[{'connected_gene': 'CLGN', 'score': 18.13}, {'connected_gene': 'UCP1', 'score': 10.92}, {'connected_gene': 'ELMOD2', 'score': 0.44}]
chr4	GH04I140426	140426584	140428236	1.98	[{'connected_gene': 'CLGN', 'score': 568.35}, {'connected_gene': 'ELMOD2', 'score': 10.02}, {'connected_gene': 'SCOC-AS1', 'score': 0.23}]
chr4	GH04I140515	140515278	140515983	0.38	[{'connected_gene': 'CLGN', 'score': 18.41}, {'connected_gene': 'ELMOD2', 'score': 0.44}, {'connected_gene': 'PIR47892', 'score': 0.37}]
chr4	GH04I140523	140523447	140525201	2.04	[{'connected_gene': 'ELMOD2', 'score': 561.03}, {'connected_gene': 'MAML3', 'score': 12.85}, {'connected_gene': 'CLGN', 'score': 7.63}, {'connected_gene': 'UCP1', 'score': 0.26}]
chr4	GH04I140717	140717156	140722389	1.38	[{'connected_gene': 'TBC1D9', 'score': 34.7}, {'connected_gene': 'MAML3', 'score': 15.66}, {'connected_gene': 'ELMOD2', 'score': 12.7}, {'connected_gene': 'TNRC18P1', 'score': 9.88}, {'connected_gene': 'UCP1', 'score': 9.13}, {'connected_gene': 'ENSG00000248335', 'score': 0.44}]
chr4	GH04I139550	139550846	139561998	2.64	[{'connected_gene': 'ENSG00000272717', 'score': 550.77}, {'connected_gene': 'SETD7', 'score': 550.23}, {'connected_gene': 'ELF2', 'score': 14.78}, {'connected_gene': 'NAA15', 'score': 13.64}, {'connected_gene': 'MAML3', 'score': 12.83}, {'connected_gene': 'ELMOD2', 'score': 10.29}, {'connected_gene': 'NDUFC1', 'score': 4.55}, {'connected_gene': 'FTH1P24', 'score': 0.39}]