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
ENST00000265277	[[112679300, 112679415], [112723882, 112724819], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773422]]	[[112724116, 112724819], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771576]]
ENST00000369452	[[112679304, 112679415], [112723882, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773425]]	[[112724116, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771576]]
ENST00000480155	[[112679350, 112679415], [112711365, 112711550], [112723882, 112724282]]	None
ENST00000489390	[[112679360, 112679415], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771428]]	None
ENST00000489783	[[112679760, 112679904], [112723882, 112724487]]	None
ENST00000451838	[[112724608, 112724819], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773424]]	[[112724608, 112724819], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771576]]
ENST00000497305	[[112724789, 112724819], [112745385, 112745680]]	None
NM_001324336	[[112679127, 112679199], [112723882, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773425]]	[[112724116, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771576]]
NR_136749	[[112679300, 112679415], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773425]]	None
NM_001269039	[[112679300, 112679415], [112723882, 112724819], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773425]]	[[112724116, 112724819], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771576]]
NM_007373	[[112679300, 112679415], [112723882, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773425]]	[[112724116, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771576]]
NM_001324337	[[112679300, 112679415], [112711365, 112711550], [112723882, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112773425]]	[[112724116, 112724819], [112745385, 112745523], [112760172, 112760303], [112764363, 112764552], [112767288, 112767411], [112769005, 112769143], [112769470, 112769588], [112771367, 112771576]]

Promoter

Chrom	Start	End	Description
chr10	112679321	112679346	CAGE_peak_2_at_SHOC2_5end
chr10	112679353	112679382	CAGE_peak_1_at_SHOC2_5end
chr10	112723946	112723950	CAGE_peak_3_at_SHOC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I110915	110915855	110921753	2.31	[{'connected_gene': 'BBIP1', 'score': 568.21}, {'connected_gene': 'SHOC2', 'score': 550.77}, {'connected_gene': 'SMC3', 'score': 27.58}, {'connected_gene': 'SMNDC1', 'score': 21.11}, {'connected_gene': 'XPNPEP1', 'score': 19.23}, {'connected_gene': 'ENSG00000270589', 'score': 15.54}, {'connected_gene': 'ADRA2A', 'score': 5.7}, {'connected_gene': 'PDCD4', 'score': 5.64}]
chr10	GH10I110883	110883647	110884448	0.96	[{'connected_gene': 'BBIP1', 'score': 15.47}, {'connected_gene': 'SHOC2', 'score': 11.34}, {'connected_gene': 'MIR4680', 'score': 0.39}, {'connected_gene': 'PDCD4-AS1', 'score': 0.39}, {'connected_gene': 'PDCD4', 'score': 0.39}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110884	110884737	110887074	0.73	[{'connected_gene': 'SHOC2', 'score': 11.35}, {'connected_gene': 'BBIP1', 'score': 11.35}, {'connected_gene': 'ENSG00000270589', 'score': 4.98}, {'connected_gene': 'ADRA2A', 'score': 4.12}, {'connected_gene': 'PDCD4-AS1', 'score': 0.39}, {'connected_gene': 'MIR4680', 'score': 0.39}, {'connected_gene': 'PDCD4', 'score': 0.39}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110992	110992451	110993852	0.74	[{'connected_gene': 'SHOC2', 'score': 11.28}, {'connected_gene': 'BBIP1', 'score': 11.28}, {'connected_gene': 'ADRA2A', 'score': 10.15}, {'connected_gene': 'PDCD4', 'score': 10.08}, {'connected_gene': 'ENSG00000232470', 'score': 10.08}, {'connected_gene': 'MIR548E', 'score': 0.77}, {'connected_gene': 'GC10P111035', 'score': 0.26}]
chr10	GH10I110972	110972601	110972800	0.2	[{'connected_gene': 'SHOC2', 'score': 11.34}, {'connected_gene': 'BBIP1', 'score': 11.34}, {'connected_gene': 'ADRA2A', 'score': 10.13}, {'connected_gene': 'MIR548E', 'score': 0.37}, {'connected_gene': 'RPL13AP6', 'score': 0.28}]
chr10	GH10I110851	110851001	110854325	1.25	[{'connected_gene': 'SHOC2', 'score': 6.41}, {'connected_gene': 'XPNPEP1', 'score': 5.08}, {'connected_gene': 'ENSG00000270589', 'score': 4.73}, {'connected_gene': 'PDCD4', 'score': 4.5}, {'connected_gene': 'ENSG00000232470', 'score': 0.37}, {'connected_gene': 'RNA5SP327', 'score': 0.16}, {'connected_gene': 'GC10P110732', 'score': 0.13}]
chr10	GH10I110922	110922001	110922200	0.38	[{'connected_gene': 'SHOC2', 'score': 0.77}, {'connected_gene': 'RPL13AP6', 'score': 0.37}]
chr10	GH10I110964	110964142	110964201	0.5	[{'connected_gene': 'SHOC2', 'score': 550.26}, {'connected_gene': 'MIR548E', 'score': 0.34}, {'connected_gene': 'RPL13AP6', 'score': 0.31}]
chr10	GH10I110832	110832810	110847822	1.69	[{'connected_gene': 'RBM20', 'score': 14.77}, {'connected_gene': 'PDCD4', 'score': 14.21}, {'connected_gene': 'PDCD4-AS1', 'score': 12.28}, {'connected_gene': 'ENSG00000232470', 'score': 12.19}, {'connected_gene': 'SHOC2', 'score': 5.29}, {'connected_gene': 'SMC3', 'score': 1.26}, {'connected_gene': 'RNA5SP327', 'score': 0.18}, {'connected_gene': 'GC10P110732', 'score': 0.14}]
chr10	GH10I110857	110857171	110875168	2.84	[{'connected_gene': 'PDCD4', 'score': 560.9}, {'connected_gene': 'SHOC2', 'score': 22.11}, {'connected_gene': 'SMC3', 'score': 10.6}, {'connected_gene': 'BBIP1', 'score': 8.39}, {'connected_gene': 'ADRA2A', 'score': 5.97}, {'connected_gene': 'ENSG00000270589', 'score': 4.6}, {'connected_gene': 'DUSP5', 'score': 1.95}, {'connected_gene': 'ENSG00000232470', 'score': 0.77}, {'connected_gene': 'PDCD4-AS1', 'score': 0.44}, {'connected_gene': 'RNA5SP327', 'score': 0.14}, {'connected_gene': 'GC10P110732', 'score': 0.12}]
chr10	GH10I110932	110932001	110932400	0.38	[{'connected_gene': 'PDCD4', 'score': 10.37}, {'connected_gene': 'ENSG00000232470', 'score': 10.37}, {'connected_gene': 'RPL13AP6', 'score': 0.44}, {'connected_gene': 'SHOC2', 'score': 0.39}]
chr10	GH10I110424	110424811	110427736	1.56	[{'connected_gene': 'DUSP5', 'score': 6.76}, {'connected_gene': 'BBIP1', 'score': 3.08}, {'connected_gene': 'SHOC2', 'score': 2.62}, {'connected_gene': 'HMGB3P5', 'score': 0.34}, {'connected_gene': 'GC10P110318', 'score': 0.14}]
chr10	GH10I110423	110423602	110424400	1.25	[{'connected_gene': 'DUSP5', 'score': 3.77}, {'connected_gene': 'BBIP1', 'score': 2.53}, {'connected_gene': 'SHOC2', 'score': 1.85}, {'connected_gene': 'HMGB3P5', 'score': 0.31}, {'connected_gene': 'GC10P110318', 'score': 0.14}]
chr10	GH10I110511	110511083	110514112	1.55	[{'connected_gene': 'DUSP5', 'score': 6.57}, {'connected_gene': 'BBIP1', 'score': 3.11}, {'connected_gene': 'SHOC2', 'score': 2.87}, {'connected_gene': 'GC10P110525', 'score': 0.39}]
chr10	GH10I110495	110495540	110506279	2.57	[{'connected_gene': 'DUSP5', 'score': 556.51}, {'connected_gene': 'SMC3', 'score': 16.01}, {'connected_gene': 'XPNPEP1', 'score': 10.3}, {'connected_gene': 'MXI1', 'score': 3.58}, {'connected_gene': 'BBIP1', 'score': 2.72}, {'connected_gene': 'SHOC2', 'score': 2.35}, {'connected_gene': 'PDCD4', 'score': 1.67}, {'connected_gene': 'ENSG00000273143', 'score': 0.77}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10	GH10I110535	110535801	110536999	1.51	[{'connected_gene': 'DUSP5', 'score': 17.24}, {'connected_gene': 'SHOC2', 'score': 1.95}, {'connected_gene': 'BBIP1', 'score': 1.37}, {'connected_gene': 'GC10M110551', 'score': 0.39}, {'connected_gene': 'GC10P110525', 'score': 0.39}]
chr10	GH10I110923	110923472	110924892	0.76	[{'connected_gene': 'ADRA2A', 'score': 9.62}, {'connected_gene': 'SHOC2', 'score': 7.18}, {'connected_gene': 'PDCD4', 'score': 5.55}, {'connected_gene': 'ADD3', 'score': 4.13}, {'connected_gene': 'RPL13AP6', 'score': 0.39}]
chr10	GH10I110895	110895414	110897688	0.59	[{'connected_gene': 'MIR4680', 'score': 550.77}, {'connected_gene': 'PDCD4', 'score': 11.05}, {'connected_gene': 'ENSG00000232470', 'score': 11.02}, {'connected_gene': 'SHOC2', 'score': 6.71}, {'connected_gene': 'ADRA2A', 'score': 5.49}, {'connected_gene': 'ENSG00000270589', 'score': 4.76}, {'connected_gene': 'PDCD4-AS1', 'score': 0.34}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110909	110909103	110909479	0.24	[{'connected_gene': 'ENSG00000278601', 'score': 550.77}, {'connected_gene': 'ENSG00000270589', 'score': 550.77}, {'connected_gene': 'SHOC2', 'score': 9.77}, {'connected_gene': 'PDCD4', 'score': 2.67}, {'connected_gene': 'BBIP1', 'score': 2.28}]