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
ENST00000244289	[[42905658, 42906227], [42906758, 42907183], [42909536, 42909713], [42910312, 42910540], [42911325, 42911620], [42911757, 42911943], [42912127, 42912273], [42912383, 42912474], [42914458, 42914994], [42930418, 42931578]]	[[42905963, 42906227], [42906758, 42907183], [42909536, 42909713], [42910312, 42910540], [42911325, 42911620], [42911757, 42911943], [42912127, 42912273], [42912383, 42912474], [42914458, 42914994], [42930418, 42931301]]
ENST00000597620	[[42905967, 42906227], [42906758, 42907183], [42909536, 42909713], [42911325, 42911378]]	[[42905967, 42906227], [42906758, 42907183], [42909536, 42909713], [42911325, 42911378]]
ENST00000599918	[[42906188, 42906227], [42906758, 42907207], [42909536, 42909713], [42910312, 42910471]]	[[42906188, 42906227], [42906758, 42907207], [42909536, 42909713], [42910312, 42910471]]
ENST00000600224	[[42906824, 42907183], [42909536, 42909989]]	None
ENST00000602000	[[42911551, 42911620], [42911757, 42911943], [42912127, 42912273], [42912383, 42912474], [42927144, 42927374]]	None
ENST00000599783	[[42912238, 42912273], [42912383, 42912474], [42914458, 42914994], [42927570, 42928275]]	[[42912238, 42912273], [42912383, 42912474], [42914458, 42914994], [42927570, 42927688]]
ENST00000599211	[[42912246, 42912273], [42912383, 42912474], [42914458, 42914994], [42916516, 42916600]]	[[42912246, 42912273], [42912383, 42912474], [42914458, 42914994], [42916516, 42916529]]
ENST00000597001	[[42912462, 42912474], [42914458, 42914994], [42927144, 42927355]]	[[42912462, 42912474], [42914458, 42914974]]
ENST00000601189	[[42914733, 42914994], [42916425, 42916499]]	[[42914733, 42914974]]
NM_005357	[[42905658, 42906227], [42906758, 42907183], [42909536, 42909713], [42910312, 42910540], [42911325, 42911620], [42911757, 42911943], [42912127, 42912273], [42912383, 42912474], [42914458, 42914994], [42930418, 42931578]]	[[42905963, 42906227], [42906758, 42907183], [42909536, 42909713], [42910312, 42910540], [42911325, 42911620], [42911757, 42911943], [42912127, 42912273], [42912383, 42912474], [42914458, 42914994], [42930418, 42931301]]

Promoter

Chrom	Start	End	Description
chr19	42931534	42931545	CAGE_peak_2_at_LIPE_5end
chr19	42931567	42931581	CAGE_peak_4_at_LIPE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I042360	42360909	42361118	0.49	[{'connected_gene': 'CNFN', 'score': 12.18}, {'connected_gene': 'MEGF8', 'score': 11.84}, {'connected_gene': 'LIPE-AS1', 'score': 11.04}, {'connected_gene': 'LIPE', 'score': 10.97}, {'connected_gene': 'GSK3A', 'score': 10.11}, {'connected_gene': 'MIR8077', 'score': 0.44}, {'connected_gene': 'GC19P042378', 'score': 0.37}, {'connected_gene': 'PIR47672', 'score': 0.37}]
chr19	GH19I042412	42412510	42413082	0.8	[{'connected_gene': 'CD177', 'score': 4.8}, {'connected_gene': 'LIPE', 'score': 0.39}, {'connected_gene': 'ENSG00000268605', 'score': 0.39}, {'connected_gene': 'LOC101930071', 'score': 0.37}, {'connected_gene': 'LIPE-AS1', 'score': 0.37}]
chr19	GH19I042413	42413598	42414194	0.38	[{'connected_gene': 'CD177', 'score': 6.09}, {'connected_gene': 'LIPE', 'score': 0.39}, {'connected_gene': 'ENSG00000268605', 'score': 0.39}, {'connected_gene': 'LOC101930071', 'score': 0.37}, {'connected_gene': 'LIPE-AS1', 'score': 0.37}]
chr19	GH19I042405	42405946	42407324	0.54	[{'connected_gene': 'CD177', 'score': 5.85}, {'connected_gene': 'LOC101930071', 'score': 0.44}, {'connected_gene': 'LIPE-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000268605', 'score': 0.37}, {'connected_gene': 'LIPE', 'score': 0.34}]
chr19	GH19I042409	42409407	42409873	0.6	[{'connected_gene': 'CD177', 'score': 6.37}, {'connected_gene': 'LOC101930071', 'score': 0.39}, {'connected_gene': 'LIPE-AS1', 'score': 0.39}, {'connected_gene': 'LIPE', 'score': 0.37}, {'connected_gene': 'ENSG00000268605', 'score': 0.37}]
chr19	GH19I041996	41996009	41996293	0.83	[{'connected_gene': 'ATP1A3', 'score': 552.08}, {'connected_gene': 'GRIK5', 'score': 18.75}, {'connected_gene': 'DMRTC2', 'score': 4.2}, {'connected_gene': 'LYPD4', 'score': 4.08}, {'connected_gene': 'LIPE', 'score': 3.25}, {'connected_gene': 'TMEM145', 'score': 2.22}, {'connected_gene': 'RABAC1', 'score': 0.28}]
chr19	GH19I042449	42449480	42451178	1.7	[{'connected_gene': 'LIPE', 'score': 22.07}, {'connected_gene': 'RNU4-60P', 'score': 11.94}, {'connected_gene': 'PSG8', 'score': 5.06}, {'connected_gene': 'CD177', 'score': 4.34}, {'connected_gene': 'CEACAM1', 'score': 1.26}, {'connected_gene': 'CXCL17', 'score': 0.44}, {'connected_gene': 'PIR51613', 'score': 0.39}, {'connected_gene': 'LIPE-AS1', 'score': 0.23}]
chr19	GH19I042414	42414290	42414703	0.38	[{'connected_gene': 'LIPE', 'score': 0.39}, {'connected_gene': 'ENSG00000268605', 'score': 0.39}, {'connected_gene': 'LOC101930071', 'score': 0.37}, {'connected_gene': 'LIPE-AS1', 'score': 0.37}]
chr19	GH19I042428	42427469	42427618	0.4	[{'connected_gene': 'LIPE', 'score': 550.77}, {'connected_gene': 'PIR52702', 'score': 550.77}, {'connected_gene': 'GC19P042435', 'score': 0.44}, {'connected_gene': 'LIPE-AS1', 'score': 0.29}]
chr19	GH19I042427	42427378	42427437	0.7	[{'connected_gene': 'LIPE', 'score': 550.77}, {'connected_gene': 'PIR52702', 'score': 550.77}, {'connected_gene': 'LIPE-AS1', 'score': 0.29}]
chr19	GH19I042400	42400908	42402558	1.52	[{'connected_gene': 'GRIK5', 'score': 4.45}, {'connected_gene': 'LOC101930071', 'score': 0.77}, {'connected_gene': 'LIPE-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000268605', 'score': 0.34}, {'connected_gene': 'LIPE', 'score': 0.31}]
chr19	GH19I042419	42419858	42425200	2.1	[{'connected_gene': 'CIC', 'score': 11.17}, {'connected_gene': 'LIPE', 'score': 6.04}, {'connected_gene': 'CD177', 'score': 4.78}, {'connected_gene': 'ENSG00000268605', 'score': 0.77}, {'connected_gene': 'LOC101930071', 'score': 0.31}, {'connected_gene': 'LIPE-AS1', 'score': 0.31}]
chr19	GH19I042267	42267435	42274340	2.68	[{'connected_gene': 'CIC', 'score': 553.37}, {'connected_gene': 'PIR59110', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 79.36}, {'connected_gene': 'ZNF574', 'score': 64.73}, {'connected_gene': 'CCDC97', 'score': 44.16}, {'connected_gene': 'DEDD2', 'score': 19.36}, {'connected_gene': 'MEGF8', 'score': 18.02}, {'connected_gene': 'CEACAM3', 'score': 15.92}, {'connected_gene': 'PRR19', 'score': 13.07}, {'connected_gene': 'PAFAH1B3', 'score': 13.07}, {'connected_gene': 'GSK3A', 'score': 12.84}, {'connected_gene': 'TMEM145', 'score': 10.12}, {'connected_gene': 'DMRTC2', 'score': 9.9}, {'connected_gene': 'LOC732229', 'score': 9.72}, {'connected_gene': 'LYPD4', 'score': 8.77}, {'connected_gene': 'LIPE', 'score': 6.93}, {'connected_gene': 'ARHGEF1', 'score': 5.82}, {'connected_gene': 'CEACAM8', 'score': 3.92}, {'connected_gene': 'ERF', 'score': 3.75}, {'connected_gene': 'POU2F2', 'score': 1.91}]
chr19	GH19I042365	42365289	42365438	0.52	[{'connected_gene': 'MEGF8', 'score': 16.45}, {'connected_gene': 'CNFN', 'score': 12.21}, {'connected_gene': 'LIPE-AS1', 'score': 11.06}, {'connected_gene': 'LIPE', 'score': 10.97}, {'connected_gene': 'GSK3A', 'score': 10.11}, {'connected_gene': 'MIR8077', 'score': 0.39}, {'connected_gene': 'GC19P042378', 'score': 0.39}, {'connected_gene': 'PIR47672', 'score': 0.39}]
chr19	GH19I042363	42363249	42364439	0.82	[{'connected_gene': 'MEGF8', 'score': 17.04}, {'connected_gene': 'CNFN', 'score': 12.18}, {'connected_gene': 'LIPE-AS1', 'score': 11.06}, {'connected_gene': 'LIPE', 'score': 10.97}, {'connected_gene': 'GSK3A', 'score': 10.11}, {'connected_gene': 'MIR8077', 'score': 0.39}, {'connected_gene': 'GC19P042378', 'score': 0.39}, {'connected_gene': 'PIR47672', 'score': 0.39}]
chr19	GH19I042183	42183949	42185836	1.17	[{'connected_gene': 'LOC100505622', 'score': 11.87}, {'connected_gene': 'ZNF526', 'score': 11.45}, {'connected_gene': 'DEDD2', 'score': 11.45}, {'connected_gene': 'LIPE-AS1', 'score': 10.03}, {'connected_gene': 'LIPE', 'score': 10.02}, {'connected_gene': 'GRIK5', 'score': 9.11}, {'connected_gene': 'POU2F2', 'score': 0.39}, {'connected_gene': 'ENSG00000259436', 'score': 0.29}]
chr19	GH19I042432	42432623	42434398	1.37	[{'connected_gene': 'GC19P042435', 'score': 550.77}, {'connected_gene': 'CNFN', 'score': 11.49}, {'connected_gene': 'RNU4-60P', 'score': 10.74}, {'connected_gene': 'POU2F2', 'score': 10.33}, {'connected_gene': 'LOC100505622', 'score': 9.79}, {'connected_gene': 'MEGF8', 'score': 4.11}, {'connected_gene': 'CXCL17', 'score': 0.44}, {'connected_gene': 'LIPE', 'score': 0.44}, {'connected_gene': 'LIPE-AS1', 'score': 0.28}]