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
ENST00000342756	[[57333080, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57344544, 57344669], [57344757, 57344815], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57369273]]	[[57333801, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57344544, 57344669], [57344757, 57344815], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57368027]]
ENST00000510663	[[57333782, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57368648]]	[[57333801, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57368027]]
ENST00000504757	[[57333783, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340669]]	[[57333801, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340610]]
ENST00000505314	[[57340299, 57340363], [57340445, 57340557], [57342836, 57342868], [57344544, 57344669], [57344757, 57344815], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357731]]	[[57340299, 57340363], [57340445, 57340557], [57342836, 57342868], [57344544, 57344669], [57344757, 57344815], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357731]]
ENST00000507126	[[57366677, 57366861], [57367849, 57369839]]	None
NM_001267722	[[57333761, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57369847]]	[[57333801, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57368027]]
NM_006947	[[57333761, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57344544, 57344669], [57344757, 57344815], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57369847]]	[[57333801, 57333910], [57335818, 57335939], [57337885, 57338009], [57340219, 57340363], [57340445, 57340557], [57342836, 57342868], [57344544, 57344669], [57344757, 57344815], [57349304, 57349436], [57350901, 57351030], [57352490, 57352563], [57354114, 57354179], [57355553, 57355649], [57356498, 57356602], [57356733, 57356811], [57357596, 57357734], [57361522, 57361560], [57366701, 57366861], [57367849, 57368027]]

Promoter

Chrom	Start	End	Description
chr4	57333756	57333807	CAGE_peak_1_at_SRP72_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I055543	55543989	55548764	2.06	[{'connected_gene': 'CLOCK', 'score': 559.76}, {'connected_gene': 'ENSG00000272969', 'score': 558.14}, {'connected_gene': 'RN7SKP30', 'score': 46.4}, {'connected_gene': 'TMEM165', 'score': 28.16}, {'connected_gene': 'CEP135', 'score': 14.64}, {'connected_gene': 'AASDH', 'score': 13.03}, {'connected_gene': 'SRP72', 'score': 12.42}, {'connected_gene': 'NMU', 'score': 10.55}, {'connected_gene': 'SRD5A3', 'score': 7.48}]
chr4	GH04I056652	56652118	56657466	1.97	[{'connected_gene': 'HOPX', 'score': 576.01}, {'connected_gene': 'LOC101928815', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 18.21}, {'connected_gene': 'SRP72', 'score': 15.45}, {'connected_gene': 'CEP135', 'score': 13.64}, {'connected_gene': 'POLR2B', 'score': 12.59}, {'connected_gene': 'SPINK2', 'score': 10.9}, {'connected_gene': 'ENSG00000251799', 'score': 10.89}, {'connected_gene': 'ENSG00000280285', 'score': 0.39}]
chr4	GH04I056426	56425115	56425204	0.49	[{'connected_gene': 'SRP72', 'score': 24.32}, {'connected_gene': 'PPAT', 'score': 0.39}, {'connected_gene': 'LOC100506514', 'score': 0.37}]
chr4	GH04I056432	56432201	56432400	0.31	[{'connected_gene': 'SRP72', 'score': 30.98}, {'connected_gene': 'PPAT', 'score': 0.77}, {'connected_gene': 'LOC100506514', 'score': 0.34}]
chr4	GH04I056803	56803555	56803744	0.56	[{'connected_gene': 'SRP72', 'score': 10.29}, {'connected_gene': 'REST', 'score': 10.27}, {'connected_gene': 'HOPX', 'score': 9.77}, {'connected_gene': 'SPINK2', 'score': 6.97}, {'connected_gene': 'GC04P056807', 'score': 0.77}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I056836	56836600	56837000	0.79	[{'connected_gene': 'SRP72', 'score': 10.46}, {'connected_gene': 'REST', 'score': 10.41}, {'connected_gene': 'HOPX', 'score': 10.36}, {'connected_gene': 'PAICS', 'score': 10.3}, {'connected_gene': 'PPAT', 'score': 10.3}, {'connected_gene': 'AASDH', 'score': 9.76}, {'connected_gene': 'SPINK2', 'score': 9.27}, {'connected_gene': 'GC04P056899', 'score': 0.21}]
chr4	GH04I056465	56465006	56469294	2.23	[{'connected_gene': 'SRP72', 'score': 596.62}, {'connected_gene': 'GC04M056462', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 13.2}, {'connected_gene': 'PPAT', 'score': 11.91}, {'connected_gene': 'PAICS', 'score': 11.91}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'ARL9', 'score': 8.07}]
chr4	GH04I056799	56799363	56800904	1.05	[{'connected_gene': 'SPINK2', 'score': 12.92}, {'connected_gene': 'PAICS', 'score': 10.6}, {'connected_gene': 'PPAT', 'score': 10.6}, {'connected_gene': 'NOA1', 'score': 10.11}, {'connected_gene': 'POLR2B', 'score': 10.11}, {'connected_gene': 'SRP72', 'score': 9.91}, {'connected_gene': 'REST', 'score': 9.41}, {'connected_gene': 'ENSG00000269949', 'score': 4.49}, {'connected_gene': 'GC04P056807', 'score': 0.44}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I056906	56906678	56911262	1.99	[{'connected_gene': 'REST', 'score': 550.77}, {'connected_gene': 'NOA1', 'score': 24.01}, {'connected_gene': 'POLR2B', 'score': 23.59}, {'connected_gene': 'AASDH', 'score': 18.18}, {'connected_gene': 'SRP72', 'score': 15.4}, {'connected_gene': 'CEP135', 'score': 13.63}, {'connected_gene': 'ENSG00000269949', 'score': 11.71}, {'connected_gene': 'SPINK2', 'score': 10.65}, {'connected_gene': 'ENSG00000251799', 'score': 10.64}, {'connected_gene': 'RNU6-998P', 'score': 9.76}, {'connected_gene': 'GC04P056945', 'score': 0.28}]
chr4	GH04I056385	56385965	56390223	2.31	[{'connected_gene': 'AASDH', 'score': 580.6}, {'connected_gene': 'GC04P056388', 'score': 550.77}, {'connected_gene': 'ENSG00000269921', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 44.41}, {'connected_gene': 'CEP135', 'score': 12.6}, {'connected_gene': 'ENSG00000251799', 'score': 8.95}, {'connected_gene': 'SPINK2', 'score': 8.95}]
chr4	GH04I056700	56700708	56701844	0.75	[{'connected_gene': 'AASDH', 'score': 16.5}, {'connected_gene': 'SRP72', 'score': 15.43}, {'connected_gene': 'CEP135', 'score': 11.61}, {'connected_gene': 'POLR2B', 'score': 10.48}, {'connected_gene': 'HOPX', 'score': 6.74}, {'connected_gene': 'LOC105377667', 'score': 0.77}, {'connected_gene': 'LOC105377666', 'score': 0.37}]
chr4	GH04I056504	56504855	56506564	1.56	[{'connected_gene': 'ARL9', 'score': 558.58}, {'connected_gene': 'SRP72', 'score': 42.54}, {'connected_gene': 'AASDH', 'score': 4.73}, {'connected_gene': 'LOC105377665', 'score': 0.34}]
chr4	GH04I056540	56540801	56541000	0.38	[{'connected_gene': 'ARL9', 'score': 12.28}, {'connected_gene': 'SRP72', 'score': 12.19}, {'connected_gene': 'PAICS', 'score': 11.04}, {'connected_gene': 'PPAT', 'score': 11.04}, {'connected_gene': 'SPINK2', 'score': 10.4}, {'connected_gene': 'ENSG00000251799', 'score': 10.4}, {'connected_gene': 'HOPX', 'score': 10.25}, {'connected_gene': 'AASDH', 'score': 10.06}, {'connected_gene': 'THEGL', 'score': 0.39}, {'connected_gene': 'GLDCP1', 'score': 0.23}]
chr4	GH04I056459	56459545	56461102	0.64	[{'connected_gene': 'ARL9', 'score': 20.07}, {'connected_gene': 'SRP72', 'score': 13.45}, {'connected_gene': 'PAICS', 'score': 12.18}, {'connected_gene': 'PPAT', 'score': 12.18}, {'connected_gene': 'AASDH', 'score': 10.29}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'GC04P056465', 'score': 0.77}, {'connected_gene': 'GC04P056437', 'score': 0.34}, {'connected_gene': 'GC04P056436', 'score': 0.34}]
chr4	GH04I055635	55635801	55637000	1.57	[{'connected_gene': 'NMU', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 14.75}, {'connected_gene': 'CEP135', 'score': 12.53}, {'connected_gene': 'SRD5A3', 'score': 9.04}, {'connected_gene': 'PDCL2', 'score': 0.26}]
chr4	GH04I056433	56433450	56438274	2.1	[{'connected_gene': 'PAICS', 'score': 550.77}, {'connected_gene': 'GC04P056437', 'score': 550.77}, {'connected_gene': 'GC04P056436', 'score': 550.77}, {'connected_gene': 'PPAT', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 50.26}, {'connected_gene': 'CEP135', 'score': 35.93}, {'connected_gene': 'AASDH', 'score': 33.8}, {'connected_gene': 'POLR2B', 'score': 32.68}, {'connected_gene': 'RN7SKP30', 'score': 31.62}, {'connected_gene': 'ENSG00000269921', 'score': 14.66}, {'connected_gene': 'ARL9', 'score': 7.67}]
chr4	GH04I056530	56530001	56531359	1.84	[{'connected_gene': 'THEGL', 'score': 567.59}, {'connected_gene': 'LOC105377665', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 22.14}, {'connected_gene': 'ARL9', 'score': 19.08}, {'connected_gene': 'ENSG00000251799', 'score': 10.66}, {'connected_gene': 'SPINK2', 'score': 10.66}, {'connected_gene': 'GLDCP1', 'score': 0.21}]
chr4	GH04I056531	56531515	56531664	0.38	[{'connected_gene': 'THEGL', 'score': 550.77}, {'connected_gene': 'LOC105377665', 'score': 550.77}, {'connected_gene': 'ARL9', 'score': 12.73}, {'connected_gene': 'SRP72', 'score': 12.63}, {'connected_gene': 'ENSG00000251799', 'score': 10.66}, {'connected_gene': 'SPINK2', 'score': 10.66}, {'connected_gene': 'GLDCP1', 'score': 0.21}]
chr4	GH04I056408	56408965	56411868	1.03	[{'connected_gene': 'LOC100506514', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 31.63}, {'connected_gene': 'AASDH', 'score': 30.36}, {'connected_gene': 'PPAT', 'score': 11.87}, {'connected_gene': 'PAICS', 'score': 11.87}, {'connected_gene': 'ENSG00000269921', 'score': 11.5}, {'connected_gene': 'ENSG00000251799', 'score': 10.01}, {'connected_gene': 'SPINK2', 'score': 10.01}]