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
ENST00000409559	[[68511302, 68511616], [68544288, 68544439], [68546353, 68546532]]	[[68511559, 68511616], [68544288, 68544439], [68546353, 68546532]]
ENST00000263655	[[68520141, 68521158], [68544288, 68544439], [68546353, 68547138]]	[[68520993, 68521158], [68544288, 68544439], [68546353, 68546532]]
ENST00000481714	[[68520197, 68521158], [68544288, 68544439], [68546353, 68546454], [68546903, 68547183]]	None
ENST00000409862	[[68543052, 68544439], [68546353, 68546598], [68546903, 68547019]]	[[68544204, 68544439], [68546353, 68546532]]
NM_001111101	[[68511302, 68511616], [68544288, 68544439], [68546353, 68547183]]	[[68511559, 68511616], [68544288, 68544439], [68546353, 68546532]]
NM_015463	[[68520141, 68521158], [68544288, 68544439], [68546353, 68547183]]	[[68520993, 68521158], [68544288, 68544439], [68546353, 68546532]]

Promoter

Chrom	Start	End	Description
chr2	68524697	68524699	CAGE_peak_12_at_CNRIP1_5end
chr2	68546530	68546631	CAGE_peak_1_at_CNRIP1_5end
chr2	68546668	68546684	CAGE_peak_4_at_CNRIP1_5end
chr2	68546688	68546695	CAGE_peak_10_at_CNRIP1_5end
chr2	68546710	68546723	CAGE_peak_7_at_CNRIP1_5end
chr2	68546759	68546770	CAGE_peak_5_at_CNRIP1_5end
chr2	68546828	68546891	CAGE_peak_3_at_CNRIP1_5end
chr2	68546894	68546903	CAGE_peak_9_at_CNRIP1_5end
chr2	68547039	68547050	CAGE_peak_6_at_CNRIP1_5end
chr2	68547061	68547135	CAGE_peak_2_at_CNRIP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I068291	68291369	68291518	0.64	[{'connected_gene': 'PNO1', 'score': 10.71}, {'connected_gene': 'WDR92', 'score': 10.71}, {'connected_gene': 'CNRIP1', 'score': 0.31}, {'connected_gene': 'ENSG00000273398', 'score': 0.29}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068287	68287602	68288540	0.99	[{'connected_gene': 'PPP3R1', 'score': 11.82}, {'connected_gene': 'PNO1', 'score': 10.78}, {'connected_gene': 'WDR92', 'score': 10.78}, {'connected_gene': 'ENSG00000273398', 'score': 0.31}, {'connected_gene': 'CNRIP1', 'score': 0.29}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068290	68290929	68291078	0.31	[{'connected_gene': 'PPP3R1', 'score': 11.73}, {'connected_gene': 'PNO1', 'score': 10.78}, {'connected_gene': 'WDR92', 'score': 10.78}, {'connected_gene': 'CNRIP1', 'score': 0.31}, {'connected_gene': 'ENSG00000273398', 'score': 0.31}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068284	68284865	68285240	0.33	[{'connected_gene': 'PPP3R1', 'score': 11.99}, {'connected_gene': 'ENSG00000273398', 'score': 0.34}, {'connected_gene': 'CNRIP1', 'score': 0.29}, {'connected_gene': 'LOC102724389', 'score': 0.28}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068410	68410960	68414141	1.16	[{'connected_gene': 'PLEK', 'score': 19.21}, {'connected_gene': 'LOC101927723', 'score': 12.57}, {'connected_gene': 'CNRIP1', 'score': 8.28}, {'connected_gene': 'LOC391383', 'score': 0.28}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr14	GH14I105068	105068764	105071613	1.54	[{'connected_gene': 'GPR132', 'score': 60.18}, {'connected_gene': 'JAG2', 'score': 11.52}, {'connected_gene': 'NUDT14', 'score': 11.5}, {'connected_gene': 'CLBA1', 'score': 11.39}, {'connected_gene': 'CRIP1', 'score': 1.11}, {'connected_gene': 'LINC02298', 'score': 0.34}]
chr14	GH14I105074	105074082	105077075	1.43	[{'connected_gene': 'GPR132', 'score': 23.91}, {'connected_gene': 'CLBA1', 'score': 16.53}, {'connected_gene': 'JAG2', 'score': 11.52}, {'connected_gene': 'NUDT14', 'score': 11.51}, {'connected_gene': 'LINC02298', 'score': 8.16}, {'connected_gene': 'PLD4', 'score': 2.07}, {'connected_gene': 'CRIP1', 'score': 1.31}]
chr14	GH14I105031	105031850	105034962	1.46	[{'connected_gene': 'GPR132', 'score': 26.12}, {'connected_gene': 'CLBA1', 'score': 14.35}, {'connected_gene': 'CRIP1', 'score': 1.52}, {'connected_gene': 'GC14P105029', 'score': 0.77}, {'connected_gene': 'GC14P105040', 'score': 0.44}]
chr2	GH02I068402	68402457	68404600	1.03	[{'connected_gene': 'CNRIP1', 'score': 8.12}, {'connected_gene': 'PLEK', 'score': 4.86}, {'connected_gene': 'LOC101927723', 'score': 0.29}, {'connected_gene': 'LOC391383', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.02}]
chr2	GH02I068438	68438401	68439000	0.74	[{'connected_gene': 'CNRIP1', 'score': 11.0}, {'connected_gene': 'LOC391383', 'score': 0.39}, {'connected_gene': 'LOC101927723', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr14	GH14I105479	105479424	105492583	2.33	[{'connected_gene': 'CRIP1', 'score': 550.77}, {'connected_gene': 'TEDC1', 'score': 550.77}, {'connected_gene': 'ENSG00000257341', 'score': 550.77}, {'connected_gene': 'MTA1', 'score': 51.04}, {'connected_gene': 'ENSG00000257270', 'score': 15.42}, {'connected_gene': 'CDCA4', 'score': 12.98}, {'connected_gene': 'GPR132', 'score': 11.05}, {'connected_gene': 'ENSG00000258811', 'score': 10.29}, {'connected_gene': 'LINC02298', 'score': 9.88}, {'connected_gene': 'TMEM121', 'score': 7.66}, {'connected_gene': 'CLBA1', 'score': 4.61}, {'connected_gene': 'CRIP2', 'score': 0.39}]
chr2	GH02I068317	68317782	68320727	2.19	[{'connected_gene': 'CNRIP1', 'score': 559.54}, {'connected_gene': 'ENSG00000273398', 'score': 0.22}, {'connected_gene': 'LOC102724389', 'score': 0.19}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068395	68395323	68397370	0.31	[{'connected_gene': 'CNRIP1', 'score': 8.13}, {'connected_gene': 'LOC101927723', 'score': 0.31}, {'connected_gene': 'PLEK', 'score': 0.29}, {'connected_gene': 'LOC391383', 'score': 0.23}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr14	GH14I105470	105470300	105478333	2.17	[{'connected_gene': 'CRIP2', 'score': 550.77}, {'connected_gene': 'MTA1', 'score': 17.39}, {'connected_gene': 'ENSG00000257270', 'score': 13.91}, {'connected_gene': 'BRF1', 'score': 10.78}, {'connected_gene': 'CLBA1', 'score': 10.19}, {'connected_gene': 'LINC00638', 'score': 9.94}, {'connected_gene': 'ENSG00000258811', 'score': 5.07}, {'connected_gene': 'TMEM121', 'score': 4.96}, {'connected_gene': 'CRIP1', 'score': 0.39}]
chr2	GH02I068120	68120413	68121851	1.45	[{'connected_gene': 'WDR92', 'score': 19.02}, {'connected_gene': 'PNO1', 'score': 11.94}, {'connected_gene': 'CNRIP1', 'score': 11.24}, {'connected_gene': 'C1D', 'score': 1.88}, {'connected_gene': 'PPIAP64', 'score': 0.77}, {'connected_gene': 'LOC105374789', 'score': 0.44}, {'connected_gene': 'GC02P067636', 'score': 0.04}]
chr2	GH02I068272	68272401	68272600	0.43	[{'connected_gene': 'WDR92', 'score': 7.43}, {'connected_gene': 'ENSG00000273398', 'score': 0.39}, {'connected_gene': 'LOC102724389', 'score': 0.31}, {'connected_gene': 'CNRIP1', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068436	68436401	68437000	0.85	[{'connected_gene': 'LOC101927723', 'score': 12.6}, {'connected_gene': 'PLEK', 'score': 12.59}, {'connected_gene': 'CNRIP1', 'score': 11.0}, {'connected_gene': 'LOC391383', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068179	68179081	68179287	0.4	[{'connected_gene': 'ENSG00000273275', 'score': 550.77}, {'connected_gene': 'PIR40286', 'score': 550.77}, {'connected_gene': 'PIR60274', 'score': 550.77}, {'connected_gene': 'PNO1', 'score': 12.05}, {'connected_gene': 'WDR92', 'score': 12.05}, {'connected_gene': 'C1D', 'score': 10.91}, {'connected_gene': 'CNRIP1', 'score': 10.19}, {'connected_gene': 'PPP3R1', 'score': 0.18}, {'connected_gene': 'ENSG00000273398', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068180	68180662	68180953	0.4	[{'connected_gene': 'ENSG00000273275', 'score': 550.77}, {'connected_gene': 'PIR40286', 'score': 550.77}, {'connected_gene': 'PPP3R1', 'score': 14.6}, {'connected_gene': 'PNO1', 'score': 12.05}, {'connected_gene': 'WDR92', 'score': 12.05}, {'connected_gene': 'C1D', 'score': 10.91}, {'connected_gene': 'CNRIP1', 'score': 10.2}, {'connected_gene': 'LOC102724389', 'score': 0.2}, {'connected_gene': 'ENSG00000273398', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068176	68176414	68178884	0.38	[{'connected_gene': 'PIR40286', 'score': 550.77}, {'connected_gene': 'PIR60274', 'score': 550.77}, {'connected_gene': 'WDR92', 'score': 12.05}, {'connected_gene': 'C1D', 'score': 10.91}, {'connected_gene': 'CNRIP1', 'score': 10.19}, {'connected_gene': 'PPP3R1', 'score': 6.98}, {'connected_gene': 'PNO1', 'score': 0.37}, {'connected_gene': 'ENSG00000273398', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068273	68272760	68272905	0.56	[{'connected_gene': 'ENSG00000273398', 'score': 0.39}, {'connected_gene': 'LOC102724389', 'score': 0.31}, {'connected_gene': 'CNRIP1', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.03}]