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

Promoter

Chrom	Start	End	Description
chr14	100204027	100204127	CAGE_peak_3_at_EML1_5end
chr14	100240019	100240042	CAGE_peak_8_at_EML1_5end
chr14	100259595	100259604	CAGE_peak_6_at_EML1_5end
chr14	100259609	100259634	CAGE_peak_5_at_EML1_5end
chr14	100259666	100259685	CAGE_peak_4_at_EML1_5end
chr14	100259686	100259711	CAGE_peak_2_at_EML1_5end
chr14	100259712	100259758	CAGE_peak_1_at_EML1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I099615	99615310	99617597	0.85	[{'connected_gene': 'HHIPL1', 'score': 13.91}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'BEGAIN', 'score': 9.74}, {'connected_gene': 'ENSG00000247970', 'score': 8.69}, {'connected_gene': 'CCDC85C', 'score': 5.94}, {'connected_gene': 'EVL', 'score': 5.24}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'GC14P099614', 'score': 0.77}, {'connected_gene': 'GC14P099640', 'score': 0.34}]
chr14	GH14I099743	99743804	99747799	1.18	[{'connected_gene': 'WDR25', 'score': 14.17}, {'connected_gene': 'HHIPL1', 'score': 10.91}, {'connected_gene': 'EML1', 'score': 8.69}, {'connected_gene': 'GC14P099742', 'score': 0.77}, {'connected_gene': 'GC14M099754', 'score': 0.37}]
chr14	GH14I099560	99560023	99577989	2.14	[{'connected_gene': 'CCDC85C', 'score': 23.67}, {'connected_gene': 'CCNK', 'score': 14.59}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'ENSG00000247970', 'score': 12.0}, {'connected_gene': 'HHIPL1', 'score': 11.22}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'EML1', 'score': 10.12}, {'connected_gene': 'SETD3', 'score': 1.64}, {'connected_gene': 'GC14P099584', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.29}]
chr14	GH14I099548	99548236	99550238	0.81	[{'connected_gene': 'CCDC85C', 'score': 19.6}, {'connected_gene': 'ENSG00000247970', 'score': 11.84}, {'connected_gene': 'HHIPL1', 'score': 11.37}, {'connected_gene': 'EML1', 'score': 10.74}, {'connected_gene': 'GC14M099518', 'score': 0.39}, {'connected_gene': 'GC14P099584', 'score': 0.29}]
chr14	GH14I099469	99468153	99468171	0.26	[{'connected_gene': 'EML1', 'score': 1.44}, {'connected_gene': 'CCNK', 'score': 0.39}, {'connected_gene': 'SETD3', 'score': 0.39}, {'connected_gene': 'RNU6-91P', 'score': 0.34}]
chr14	GH14I099872	99872026	99873401	0.71	[{'connected_gene': 'EML1', 'score': 15.52}, {'connected_gene': 'CCNK', 'score': 14.47}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'CYP46A1', 'score': 10.68}, {'connected_gene': 'GC14M099882', 'score': 0.39}, {'connected_gene': 'GC14M099754', 'score': 0.14}]
chr14	GH14I099822	99822529	99823409	0.4	[{'connected_gene': 'EML1', 'score': 10.89}, {'connected_gene': 'HHIPL1', 'score': 10.7}, {'connected_gene': 'CYP46A1', 'score': 10.62}, {'connected_gene': 'GC14M099754', 'score': 0.22}, {'connected_gene': 'GC14M099882', 'score': 0.21}]
chr14	GH14I099819	99819104	99820940	0.43	[{'connected_gene': 'EML1', 'score': 11.51}, {'connected_gene': 'HHIPL1', 'score': 10.7}, {'connected_gene': 'CYP46A1', 'score': 10.66}, {'connected_gene': 'GC14M099754', 'score': 0.23}, {'connected_gene': 'GC14M099882', 'score': 0.21}]
chr14	GH14I099687	99687844	99688027	0.57	[{'connected_gene': 'EML1', 'score': 11.14}, {'connected_gene': 'HHIPL1', 'score': 11.12}, {'connected_gene': 'CYP46A1', 'score': 0.77}, {'connected_gene': 'ENSG00000258672', 'score': 0.44}]
chr14	GH14I099766	99766354	99769170	1.2	[{'connected_gene': 'EML1', 'score': 23.06}, {'connected_gene': 'HHIPL1', 'score': 10.0}, {'connected_gene': 'GC14M099754', 'score': 0.77}, {'connected_gene': 'GC14M099882', 'score': 0.13}]
chr14	GH14I099772	99772363	99773818	0.74	[{'connected_gene': 'EML1', 'score': 18.97}, {'connected_gene': 'HHIPL1', 'score': 10.0}, {'connected_gene': 'GC14M099754', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.14}]
chr14	GH14I099775	99774601	99774800	0.51	[{'connected_gene': 'EML1', 'score': 11.85}, {'connected_gene': 'HHIPL1', 'score': 9.99}, {'connected_gene': 'GC14M099754', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.14}]
chr14	GH14I099774	99774868	99775266	0.72	[{'connected_gene': 'EML1', 'score': 15.68}, {'connected_gene': 'WDR25', 'score': 10.64}, {'connected_gene': 'HHIPL1', 'score': 10.13}, {'connected_gene': 'CYP46A1', 'score': 1.39}, {'connected_gene': 'GC14M099754', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.14}]
chr14	GH14I099736	99736534	99740978	1.67	[{'connected_gene': 'EML1', 'score': 558.84}, {'connected_gene': 'EVL', 'score': 4.77}, {'connected_gene': 'GC14P099742', 'score': 0.77}]
chr14	GH14I099812	99812044	99813141	0.31	[{'connected_gene': 'EML1', 'score': 22.28}, {'connected_gene': 'GC14M099754', 'score': 0.25}, {'connected_gene': 'GC14M099882', 'score': 0.19}]
chr14	GH14I099751	99751279	99759799	1.48	[{'connected_gene': 'EML1', 'score': 11.2}, {'connected_gene': 'GC14P099742', 'score': 0.39}, {'connected_gene': 'GC14M099754', 'score': 0.39}]
chr14	GH14I099801	99801817	99804044	0.71	[{'connected_gene': 'EML1', 'score': 8.32}, {'connected_gene': 'GC14M099754', 'score': 0.28}, {'connected_gene': 'GC14M099882', 'score': 0.18}]
chr14	GH14I099808	99808747	99810698	1.04	[{'connected_gene': 'EML1', 'score': 22.8}, {'connected_gene': 'GC14M099754', 'score': 0.26}, {'connected_gene': 'GC14M099882', 'score': 0.19}]
chr14	GH14I099814	99814382	99818391	0.49	[{'connected_gene': 'EML1', 'score': 23.65}, {'connected_gene': 'GC14M099754', 'score': 0.23}, {'connected_gene': 'GC14M099882', 'score': 0.2}]
chr14	GH14I099779	99779751	99780274	0.71	[{'connected_gene': 'EML1', 'score': 9.26}, {'connected_gene': 'GC14M099754', 'score': 0.39}, {'connected_gene': 'GC14M099882', 'score': 0.15}]
chr14	GH14I099791	99791128	99794201	2	[{'connected_gene': 'EML1', 'score': 568.52}, {'connected_gene': 'GC14M099754', 'score': 0.31}, {'connected_gene': 'GC14M099882', 'score': 0.16}]
chr14	GH14I099910	99910270	99911437	0.72	[{'connected_gene': 'EML1', 'score': 5.1}, {'connected_gene': 'GC14P099922', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.31}]
chr14	GH14I099789	99789326	99790290	0.43	[{'connected_gene': 'EML1', 'score': 6.57}, {'connected_gene': 'GC14M099754', 'score': 0.34}, {'connected_gene': 'GC14M099882', 'score': 0.16}]
chr14	GH14I099838	99838378	99839947	0.92	[{'connected_gene': 'EML1', 'score': 16.74}, {'connected_gene': 'GC14M099882', 'score': 0.26}, {'connected_gene': 'GC14M099754', 'score': 0.19}]
chr14	GH14I099804	99804320	99805713	0.49	[{'connected_gene': 'EML1', 'score': 8.43}, {'connected_gene': 'GC14M099754', 'score': 0.28}, {'connected_gene': 'GC14M099882', 'score': 0.18}]
chr14	GH14I099878	99878572	99881396	0.75	[{'connected_gene': 'EML1', 'score': 17.14}, {'connected_gene': 'GC14M099882', 'score': 0.77}, {'connected_gene': 'GC14M099754', 'score': 0.14}]
chr14	GH14I099732	99732653	99736432	0.71	[{'connected_gene': 'EML1', 'score': 0.77}, {'connected_gene': 'GC14M099725', 'score': 0.44}]
chr14	GH14I099614	99614007	99614630	0.31	[{'connected_gene': 'GC14P099614', 'score': 550.77}, {'connected_gene': 'GC14P099613', 'score': 550.77}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'ENSG00000247970', 'score': 0.44}, {'connected_gene': 'HHIPL1', 'score': 0.44}, {'connected_gene': 'GC14P099640', 'score': 0.31}]
chr14	GH14I099611	99611464	99613736	0.69	[{'connected_gene': 'GC14P099614', 'score': 550.77}, {'connected_gene': 'GC14P099613', 'score': 550.77}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'ENSG00000247970', 'score': 7.16}, {'connected_gene': 'WARS', 'score': 5.26}, {'connected_gene': 'HHIPL1', 'score': 0.44}]
chr14	GH14I099797	99797686	99798847	0.58	[{'connected_gene': 'GC14M099754', 'score': 0.29}, {'connected_gene': 'EML1', 'score': 0.21}, {'connected_gene': 'GC14M099882', 'score': 0.17}]
chr14	GH14I099888	99888907	99890013	0.46	[{'connected_gene': 'GC14M099882', 'score': 0.44}, {'connected_gene': 'GC14P099922', 'score': 0.31}, {'connected_gene': 'EML1', 'score': 0.1}]
chr14	GH14I099885	99885224	99885353	0.46	[{'connected_gene': 'GC14M099882', 'score': 550.77}, {'connected_gene': 'GC14P099922', 'score': 0.29}, {'connected_gene': 'EML1', 'score': 0.11}]
chr14	GH14I099806	99806613	99807053	0.4	[{'connected_gene': 'GC14M099754', 'score': 0.26}, {'connected_gene': 'EML1', 'score': 0.2}, {'connected_gene': 'GC14M099882', 'score': 0.18}]
chr14	GH14I099886	99885464	99885613	0.56	[{'connected_gene': 'GC14M099882', 'score': 550.77}, {'connected_gene': 'EML1', 'score': 4.62}, {'connected_gene': 'GC14P099922', 'score': 0.29}]
chr14	GH14I099784	99784564	99785097	1.06	[{'connected_gene': 'GC14M099754', 'score': 0.37}, {'connected_gene': 'EML1', 'score': 0.25}, {'connected_gene': 'GC14M099882', 'score': 0.15}]
chr14	GH14I099807	99807444	99807593	0.77	[{'connected_gene': 'GC14M099754', 'score': 0.26}, {'connected_gene': 'EML1', 'score': 0.2}, {'connected_gene': 'GC14M099882', 'score': 0.18}]
chr14	GH14I099809	99807844	99808073	0.86	[{'connected_gene': 'GC14M099754', 'score': 0.26}, {'connected_gene': 'EML1', 'score': 0.19}, {'connected_gene': 'GC14M099882', 'score': 0.18}]
chr14	GH14I099763	99763262	99764996	0.46	[{'connected_gene': 'GC14M099754', 'score': 550.77}, {'connected_gene': 'EML1', 'score': 8.37}, {'connected_gene': 'GC14P099742', 'score': 0.34}]
chr14	GH14I099780	99780419	99780423	0.4	[{'connected_gene': 'GC14M099754', 'score': 0.39}, {'connected_gene': 'EML1', 'score': 0.26}, {'connected_gene': 'GC14M099882', 'score': 0.15}]
chr14	GH14I099729	99729709	99732370	1.5	[{'connected_gene': 'GC14M099725', 'score': 0.77}, {'connected_gene': 'EML1', 'score': 0.44}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000554479	[[100204029, 100204197], [100317189, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375753]]	[[100204169, 100204197], [100317189, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375753]]
ENST00000555145	[[100204085, 100204197], [100317189, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344889]]	[[100204169, 100204197], [100317189, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344889]]
ENST00000327921	[[100239285, 100240350], [100317189, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100406661]]	[[100317215, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100406449]]
ENST00000556199	[[100240040, 100240350], [100317196, 100317372], [100331850, 100331948]]	[[100317215, 100317372], [100331850, 100331948]]
ENST00000556835	[[100259020, 100259239], [100317189, 100317372], [100331850, 100331983], [100344821, 100344854]]	[[100317215, 100317372], [100331850, 100331983], [100344821, 100344854]]
ENST00000262233	[[100259674, 100259880], [100317189, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100408397]]	[[100259813, 100259880], [100317189, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100406449]]
ENST00000334192	[[100259679, 100259880], [100317189, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100407874]]	[[100259813, 100259880], [100317189, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100406449]]
ENST00000555096	[[100259749, 100259880], [100317189, 100317372], [100331854, 100331983], [100344821, 100344858]]	[[100259813, 100259880], [100317189, 100317372], [100331854, 100331862]]
ENST00000556714	[[100259771, 100259854], [100317189, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367316]]	[[100317215, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367316]]
ENST00000557313	[[100380912, 100381034], [100384152, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405568]]	[[100380912, 100381034], [100384152, 100384186], [100387125, 100387199]]
ENST00000553720	[[100275787, 100276021], [100317189, 100317372], [100331850, 100331934]]	[[100276011, 100276021], [100317189, 100317372], [100331850, 100331934]]
ENST00000556947	[[100305378, 100305408], [100316460, 100316669], [100317189, 100317372], [100331850, 100331967]]	[[100316584, 100316669], [100317189, 100317372], [100331850, 100331967]]
ENST00000556758	[[100317186, 100317372], [100331850, 100331983], [100344821, 100344956], [100349577, 100349883]]	None
ENST00000557741	[[100331945, 100331983], [100344821, 100344956], [100352209, 100352442]]	[[100331945, 100331983], [100344821, 100344956], [100352209, 100352237]]
ENST00000555277	[[100360789, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367319]]	None
ENST00000554553	[[100363578, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375645, 100375816], [100376578, 100376659]]	[[100363578, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375645, 100375681]]
ENST00000554386	[[100364569, 100364639], [100367265, 100367376], [100375681, 100375816], [100376578, 100376678], [100377758, 100377888]]	[[100364569, 100364639], [100367265, 100367376], [100375681, 100375816], [100376578, 100376678], [100377758, 100377888]]
ENST00000555812	[[100365748, 100365815], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377775]]	None
ENST00000554111	[[100373208, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381749]]	None
ENST00000553313	[[100402503, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100406511]]	None
NM_004434	[[100259744, 100259880], [100317189, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100408397]]	[[100259813, 100259880], [100317189, 100317372], [100331850, 100331983], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100406449]]
NM_001008707	[[100259744, 100259880], [100317189, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100408397]]	[[100259813, 100259880], [100317189, 100317372], [100331850, 100331983], [100341267, 100341324], [100344821, 100344956], [100357535, 100357564], [100360965, 100361095], [100363481, 100363631], [100364569, 100364639], [100367265, 100367376], [100373974, 100374070], [100375681, 100375816], [100376578, 100376678], [100377758, 100377913], [100380515, 100380641], [100380902, 100381034], [100384118, 100384186], [100387125, 100387214], [100402365, 100402463], [100402583, 100402671], [100404153, 100404249], [100405533, 100405664], [100406323, 100406449]]