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
ENST00000536887	[[63228875, 63231067], [63233581, 63233844], [63257714, 63257805], [63258358, 63258411]]	[[63233840, 63233844], [63257714, 63257805], [63258358, 63258411]]
ENST00000540857	[[63228885, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257805], [63258358, 63258639]]	[[63230974, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257805], [63258358, 63258506]]
ENST00000539221	[[63230731, 63231067], [63233631, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258640]]	[[63231002, 63231067], [63233631, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258506]]
ENST00000301790	[[63230808, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258666]]	[[63230974, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258506]]
ENST00000394615	[[63230947, 63231067], [63233581, 63233844], [63235828, 63235937], [63258358, 63258437]]	[[63235902, 63235937], [63258358, 63258437]]
ENST00000538712	[[63233617, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63258004]]	[[63233617, 63233674]]
NM_054108	[[63228875, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258680]]	[[63230974, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258506]]
NM_001146728	[[63228875, 63231067], [63233631, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258680]]	[[63231002, 63231067], [63233631, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257835], [63258358, 63258506]]
NM_001146729	[[63228875, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257805], [63258358, 63258680]]	[[63230974, 63231067], [63233581, 63233844], [63235828, 63235937], [63256342, 63256448], [63257714, 63257805], [63258358, 63258506]]

Promoter

Chrom	Start	End	Description
chr11	63257818	63257834	CAGE_peak_12_at_HRASLS5_5end
chr11	63258167	63258182	CAGE_peak_8_at_HRASLS5_5end
chr11	63258372	63258390	CAGE_peak_4_at_HRASLS5_5end
chr11	63258393	63258459	CAGE_peak_1_at_HRASLS5_5end
chr11	63258548	63258562	CAGE_peak_5_at_HRASLS5_5end
chr11	63258601	63258671	CAGE_peak_2_at_HRASLS5_5end
chr11	63258677	63258700	CAGE_peak_3_at_HRASLS5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I063505	63504401	63504788	0.78	[{'connected_gene': 'LGALS12', 'score': 550.77}, {'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr11	GH11I063608	63608180	63611400	1.41	[{'connected_gene': 'LGALS12', 'score': 25.34}, {'connected_gene': 'PLA2G16', 'score': 20.16}, {'connected_gene': 'HRASLS5', 'score': 1.95}, {'connected_gene': 'ENSG00000203520', 'score': 0.44}, {'connected_gene': 'LOC105369335', 'score': 0.29}, {'connected_gene': 'GC11M063550', 'score': 0.19}]
chr11	GH11I063494	63494821	63496061	0.69	[{'connected_gene': 'RARRES3', 'score': 11.92}, {'connected_gene': 'PLA2G16', 'score': 11.65}, {'connected_gene': 'ENSG00000203520', 'score': 11.65}, {'connected_gene': 'ENSG00000256789', 'score': 11.29}, {'connected_gene': 'ATL3', 'score': 10.15}, {'connected_gene': 'LGALS12', 'score': 6.51}, {'connected_gene': 'HRASLS5', 'score': 0.77}]
chr11	GH11I063502	63502053	63504338	1.02	[{'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'MARK2', 'score': 4.3}, {'connected_gene': 'RTN3', 'score': 3.23}, {'connected_gene': 'LGALS12', 'score': 2.03}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr11	GH11I063489	63489005	63492695	2.1	[{'connected_gene': 'HRASLS5', 'score': 550.77}, {'connected_gene': 'PLA2G16', 'score': 11.47}, {'connected_gene': 'ENSG00000203520', 'score': 11.47}, {'connected_gene': 'ENSG00000256789', 'score': 11.29}, {'connected_gene': 'BSCL2', 'score': 9.74}, {'connected_gene': 'ATL3', 'score': 9.51}, {'connected_gene': 'LOC100533643', 'score': 0.34}]
chr11	GH11I063478	63478909	63479201	1.22	[{'connected_gene': 'NXF1', 'score': 20.33}, {'connected_gene': 'CSKMT', 'score': 18.91}, {'connected_gene': 'GANAB', 'score': 17.63}, {'connected_gene': 'SNHG1', 'score': 17.01}, {'connected_gene': 'EML3', 'score': 16.15}, {'connected_gene': 'INTS5', 'score': 13.77}, {'connected_gene': 'STX5', 'score': 13.73}, {'connected_gene': 'MTA2', 'score': 12.78}, {'connected_gene': 'ENSG00000256789', 'score': 11.99}, {'connected_gene': 'TUT1', 'score': 11.59}, {'connected_gene': 'TAF6L', 'score': 11.56}, {'connected_gene': 'LOC105369332', 'score': 11.48}, {'connected_gene': 'PLCB3', 'score': 11.1}, {'connected_gene': 'ENSG00000203520', 'score': 11.04}, {'connected_gene': 'PLA2G16', 'score': 11.04}, {'connected_gene': 'HRASLS2', 'score': 10.84}, {'connected_gene': 'TMEM179B', 'score': 10.32}, {'connected_gene': 'RTN3', 'score': 10.21}, {'connected_gene': 'UBXN1', 'score': 10.12}, {'connected_gene': 'LOC100533643', 'score': 0.44}, {'connected_gene': 'HRASLS5', 'score': 0.39}]