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
ENST00000381884	[[25457170, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497018]]	[[25457314, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487163]]
ENST00000545981	[[25457177, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25496974]]	[[25459763, 25459808], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487163]]
ENST00000471870	[[25458467, 25458601], [25459413, 25459524], [25459743, 25459808], [25460372, 25460523], [25463453, 25463493]]	None
ENST00000493190	[[25459427, 25459524], [25459743, 25460217]]	None
ENST00000418179	[[25463307, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478132]]	[[25463409, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478132]]
NR_047594	[[25456411, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25460406, 25460523], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497027]]	None
NM_018451	[[25456411, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497027]]	[[25457314, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25463453, 25463538], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487163]]
NR_047595	[[25456411, 25457507], [25458100, 25458221], [25458298, 25458383], [25458460, 25458601], [25459413, 25459524], [25459743, 25459808], [25466780, 25467005], [25473556, 25473722], [25478063, 25478196], [25479483, 25481098], [25481228, 25481331], [25482155, 25482264], [25483927, 25484224], [25486083, 25486207], [25486719, 25487229], [25496898, 25497027]]	None

Promoter

Chrom	Start	End	Description
chr13	25460367	25460369	CAGE_peak_7_at_CENPJ_5end
chr13	25496926	25497034	CAGE_peak_1_at_CENPJ_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I024910	24910598	24912012	1.11	[{'connected_gene': 'NUP58', 'score': 6.12}, {'connected_gene': 'MTMR6', 'score': 5.56}, {'connected_gene': 'PARP4', 'score': 1.74}, {'connected_gene': 'PABPC3', 'score': 1.35}, {'connected_gene': 'CENPJ', 'score': 0.39}, {'connected_gene': 'GC13P024795', 'score': 0.1}, {'connected_gene': 'PIR31198', 'score': 0.1}]
chr13	GH13I024968	24968001	24968601	0.89	[{'connected_gene': 'TPTE2P1', 'score': 560.98}, {'connected_gene': 'CENPJ', 'score': 9.57}, {'connected_gene': 'SLC25A15P3', 'score': 0.34}]
chr13	GH13I024925	24925444	24926174	0.69	[{'connected_gene': 'RNF17', 'score': 9.94}, {'connected_gene': 'TPTE2P1', 'score': 6.62}, {'connected_gene': 'CENPJ', 'score': 0.77}, {'connected_gene': 'ENSG00000273628', 'score': 0.44}]
chr13	GH13I024875	24875530	24876089	0.49	[{'connected_gene': 'RNF17', 'score': 5.28}, {'connected_gene': 'CENPJ', 'score': 0.25}, {'connected_gene': 'GC13P024795', 'score': 0.13}, {'connected_gene': 'PIR31198', 'score': 0.13}]
chr13	GH13I024764	24764122	24764181	0.5	[{'connected_gene': 'RNF17', 'score': 550.37}, {'connected_gene': 'GC13P024795', 'score': 0.39}, {'connected_gene': 'PIR31198', 'score': 0.39}, {'connected_gene': 'CENPJ', 'score': 0.1}]
chr13	GH13I024921	24921849	24924423	2.06	[{'connected_gene': 'CENPJ', 'score': 556.04}, {'connected_gene': 'TPTE2P1', 'score': 9.1}, {'connected_gene': 'RNF17', 'score': 5.25}, {'connected_gene': 'ENSG00000273628', 'score': 0.44}]
chr13	GH13I024957	24957103	24957252	0.56	[{'connected_gene': 'CENPJ', 'score': 5.43}, {'connected_gene': 'TPTE2P1', 'score': 0.39}, {'connected_gene': 'SLC25A15P3', 'score': 0.39}]
chr13	GH13I024922	24921001	24921200	0.46	[{'connected_gene': 'CENPJ', 'score': 555.9}, {'connected_gene': 'TPTE2P1', 'score': 9.93}, {'connected_gene': 'GC13P024795', 'score': 0.1}, {'connected_gene': 'PIR31198', 'score': 0.1}]
chr13	GH13I024870	24870463	24870612	0.2	[{'connected_gene': 'CENPJ', 'score': 0.23}, {'connected_gene': 'GC13P024795', 'score': 0.13}, {'connected_gene': 'PIR31198', 'score': 0.13}, {'connected_gene': 'RNF17', 'score': 0.13}]
chr13	GH13I024850	24850962	24852234	0.38	[{'connected_gene': 'CENPJ', 'score': 0.19}, {'connected_gene': 'GC13P024795', 'score': 0.15}, {'connected_gene': 'PIR31198', 'score': 0.15}, {'connected_gene': 'RNF17', 'score': 0.15}]
chr13	GH13I024097	24097272	24097943	0.78	[{'connected_gene': 'CENPJ', 'score': 11.03}, {'connected_gene': 'IPO7P2', 'score': 0.31}, {'connected_gene': 'PIR59399', 'score': 0.22}, {'connected_gene': 'SPATA13', 'score': 0.13}, {'connected_gene': 'ENSG00000273167', 'score': 0.13}]