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
ENST00000569374	[[58265060, 58265118], [58268743, 58269015], [58286630, 58286757], [58287901, 58288000]]	[[58286664, 58286757], [58287901, 58288000]]
ENST00000219299	[[58283839, 58284019], [58286630, 58286757], [58287901, 58288063], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58317740]]	[[58283918, 58284019], [58286630, 58286757], [58287901, 58288063], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58313681]]
ENST00000443128	[[58283839, 58284019], [58286630, 58286757], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58317740]]	[[58283918, 58284019], [58286630, 58286757], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58313681]]
ENST00000561517	[[58283855, 58284019], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444]]	[[58283918, 58284019], [58292271, 58292347]]
ENST00000566498	[[58283891, 58284344], [58286630, 58286671]]	None
NM_001142302	[[58283839, 58284019], [58286630, 58286757], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58317740]]	[[58283918, 58284019], [58286630, 58286757], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58313681]]
NM_014157	[[58283839, 58284019], [58286630, 58286757], [58287901, 58288063], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58317740]]	[[58283918, 58284019], [58286630, 58286757], [58287901, 58288063], [58292271, 58292427], [58293757, 58293838], [58296288, 58296444], [58301382, 58301490], [58312385, 58312541], [58313594, 58313681]]

Promoter

Chrom	Start	End	Description
chr16	58283814	58283918	CAGE_peak_1_at_CCDC113_5end
chr16	58283941	58283950	CAGE_peak_2_at_CCDC113_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I057626	57626369	57631200	1.96	[{'connected_gene': 'ADGRG1', 'score': 550.37}, {'connected_gene': 'RSPRY1', 'score': 140.37}, {'connected_gene': 'LOC101927556', 'score': 77.36}, {'connected_gene': 'POLR2C', 'score': 48.14}, {'connected_gene': 'NUP93', 'score': 45.78}, {'connected_gene': 'LOC105371286', 'score': 30.85}, {'connected_gene': 'SETD6', 'score': 22.65}, {'connected_gene': 'ADGRG3', 'score': 11.84}, {'connected_gene': 'CSNK2A2', 'score': 11.25}, {'connected_gene': 'CCDC102A', 'score': 10.29}, {'connected_gene': 'ARL2BP', 'score': 10.09}, {'connected_gene': 'CFAP20', 'score': 9.94}, {'connected_gene': 'CNGB1', 'score': 9.54}, {'connected_gene': 'NDRG4', 'score': 5.27}, {'connected_gene': 'CCDC113', 'score': 4.88}, {'connected_gene': 'ADGRG5', 'score': 4.64}, {'connected_gene': 'GC16M057629', 'score': 0.77}, {'connected_gene': 'ENSG00000261633', 'score': 0.77}]
chr16	GH16I058205	58205377	58205526	0.38	[{'connected_gene': 'CFAP20', 'score': 10.34}, {'connected_gene': 'SLC38A7', 'score': 10.23}, {'connected_gene': 'PRSS54', 'score': 10.14}, {'connected_gene': 'RN7SL645P', 'score': 0.44}, {'connected_gene': 'CCDC113', 'score': 0.44}, {'connected_gene': 'ENSG00000260867', 'score': 0.44}, {'connected_gene': 'LOC105371293', 'score': 0.26}]
chr16	GH16I058186	58186338	58188546	0.31	[{'connected_gene': 'CFAP20', 'score': 5.02}, {'connected_gene': 'CCDC113', 'score': 0.44}, {'connected_gene': 'CSNK2A2', 'score': 0.39}, {'connected_gene': 'GC16P058164', 'score': 0.34}]
chr16	GH16I058176	58176594	58177849	0.2	[{'connected_gene': 'CFAP20', 'score': 19.13}, {'connected_gene': 'CSNK2A2', 'score': 6.2}, {'connected_gene': 'GC16P058164', 'score': 0.39}, {'connected_gene': 'CCDC113', 'score': 0.37}]
chr16	GH16I058196	58196884	58198746	1.95	[{'connected_gene': 'CCDC113', 'score': 550.77}, {'connected_gene': 'ENSG00000260867', 'score': 550.77}, {'connected_gene': 'CSNK2A2', 'score': 550.77}, {'connected_gene': 'POLR2C', 'score': 20.56}, {'connected_gene': 'SETD6', 'score': 10.3}, {'connected_gene': 'CNOT1', 'score': 9.76}, {'connected_gene': 'CFAP20', 'score': 5.01}]
chr16	GH16I058249	58249236	58250800	1.97	[{'connected_gene': 'CCDC113', 'score': 554.61}, {'connected_gene': 'LOC105371293', 'score': 550.77}, {'connected_gene': 'GC16M058249', 'score': 0.77}]
chr16	GH16I058236	58236001	58237146	1.08	[{'connected_gene': 'CNOT1', 'score': 18.3}, {'connected_gene': 'CSNK2A2', 'score': 15.92}, {'connected_gene': 'POLR2C', 'score': 9.68}, {'connected_gene': 'LOC105371293', 'score': 0.39}, {'connected_gene': 'RN7SL645P', 'score': 0.28}, {'connected_gene': 'CCDC113', 'score': 0.28}]
chr16	GH16I058264	58264185	58266332	1.43	[{'connected_gene': 'PRSS54', 'score': 16.17}, {'connected_gene': 'SETD6', 'score': 11.77}, {'connected_gene': 'CCDC113', 'score': 6.67}, {'connected_gene': 'GC16P058267', 'score': 0.77}, {'connected_gene': 'GC16M058249', 'score': 0.39}]
chr16	GH16I058317	58317416	58318330	0.31	[{'connected_gene': 'PRSS54', 'score': 11.42}, {'connected_gene': 'CCDC113', 'score': 11.11}, {'connected_gene': 'CNGB1', 'score': 9.75}, {'connected_gene': 'CFAP20', 'score': 9.73}, {'connected_gene': 'CSNK2A2', 'score': 9.59}, {'connected_gene': 'GINS3', 'score': 0.34}, {'connected_gene': 'GC16P058353', 'score': 0.28}, {'connected_gene': 'GC16P058267', 'score': 0.23}]
chr16	GH16I058222	58222549	58223088	0.8	[{'connected_gene': 'CSNK2A2', 'score': 12.26}, {'connected_gene': 'CFAP20', 'score': 10.7}, {'connected_gene': 'CNGB1', 'score': 9.57}, {'connected_gene': 'RN7SL645P', 'score': 0.34}, {'connected_gene': 'LOC105371293', 'score': 0.31}, {'connected_gene': 'CCDC113', 'score': 0.31}]
chr16	GH16I058243	58243184	58245087	1.09	[{'connected_gene': 'CSNK2A2', 'score': 12.5}, {'connected_gene': 'PRSS54', 'score': 10.62}, {'connected_gene': 'LOC105371293', 'score': 0.44}, {'connected_gene': 'RN7SL645P', 'score': 0.26}, {'connected_gene': 'CCDC113', 'score': 0.25}]
chr16	GH16I058280	58280329	58281699	0.56	[{'connected_gene': 'PIR34447', 'score': 550.77}, {'connected_gene': 'GC16P058281', 'score': 550.77}, {'connected_gene': 'CCDC113', 'score': 18.46}, {'connected_gene': 'CFAP20', 'score': 10.51}, {'connected_gene': 'PRSS54', 'score': 0.39}, {'connected_gene': 'GC16P058267', 'score': 0.39}]