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
ENST00000396352	[[27145802, 27148339], [27149733, 27150379], [27159134, 27159214]]	[[27147533, 27148339], [27149733, 27150259]]
ENST00000317201	[[27146630, 27148339], [27149733, 27150379], [27162177, 27162261], [27166504, 27166639]]	[[27147533, 27148339], [27149733, 27150259]]
ENST00000522788	[[27150006, 27150379], [27162177, 27162261], [27179701, 27179825]]	[[27150006, 27150259]]
ENST00000522456	[[27150097, 27150379], [27153243, 27153464]]	[[27150097, 27150259]]
ENST00000521779	[[27150222, 27150379], [27162177, 27162261], [27166504, 27166689], [27179701, 27179838]]	[[27150222, 27150259]]
ENST00000521401	[[27150309, 27150379], [27162177, 27162261], [27164052, 27164168], [27166504, 27166689], [27179701, 27179844]]	None
ENST00000518451	[[27166546, 27166689], [27179701, 27179805], [27191906, 27192200]]	None
NM_030661	[[27145808, 27148339], [27149733, 27150379], [27159134, 27159214]]	[[27147533, 27148339], [27149733, 27150259]]
NM_153631	[[27145808, 27148339], [27149733, 27150379], [27162177, 27162261], [27166504, 27166639]]	[[27147533, 27148339], [27149733, 27150259]]

Promoter

Chrom	Start	End	Description
chr7	27153428	27153440	CAGE_peak_3_at_HOXA3_5end
chr7	27153443	27153450	CAGE_peak_8_at_HOXA3_5end
chr7	27153454	27153469	CAGE_peak_2_at_HOXA3_5end
chr7	27153590	27153608	CAGE_peak_7_at_HOXA3_5end
chr7	27153613	27153630	CAGE_peak_6_at_HOXA3_5end
chr7	27179814	27179840	CAGE_peak_4_at_HOXA3_5end
chr7	27179852	27179863	CAGE_peak_10_at_HOXA3_5end
chr7	27192185	27192209	CAGE_peak_1_at_HOXA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I026964	26964401	26964600	0.43	[{'connected_gene': 'SKAP2', 'score': 10.78}, {'connected_gene': 'HOXA2', 'score': 10.03}, {'connected_gene': 'HOXA-AS2', 'score': 10.02}, {'connected_gene': 'HOXA3', 'score': 10.0}, {'connected_gene': 'HOTAIRM1', 'score': 9.81}, {'connected_gene': 'HOXA1', 'score': 9.81}, {'connected_gene': 'GC07M026956', 'score': 0.39}, {'connected_gene': 'GC07M026955', 'score': 0.39}, {'connected_gene': 'GC07P026980', 'score': 0.37}]
chr7	GH07I026704	26704462	26706260	0.63	[{'connected_gene': 'SKAP2', 'score': 20.02}, {'connected_gene': 'HOXA2', 'score': 10.28}, {'connected_gene': 'HOXA-AS2', 'score': 10.28}, {'connected_gene': 'HOXA3', 'score': 10.28}, {'connected_gene': 'GC07P026673', 'score': 0.29}, {'connected_gene': 'GC07M026718', 'score': 0.28}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7	GH07I026947	26947284	26949966	0.76	[{'connected_gene': 'SKAP2', 'score': 23.39}, {'connected_gene': 'HOTAIRM1', 'score': 11.21}, {'connected_gene': 'HOXA1', 'score': 11.21}, {'connected_gene': 'HOXA2', 'score': 10.84}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'HOXA3', 'score': 10.55}, {'connected_gene': 'GC07M026956', 'score': 0.44}, {'connected_gene': 'GC07M026955', 'score': 0.44}, {'connected_gene': 'RPL7AP38', 'score': 0.31}]
chr7	GH07I026862	26862557	26865671	2.28	[{'connected_gene': 'SKAP2', 'score': 558.35}, {'connected_gene': 'HOTAIRM1', 'score': 22.1}, {'connected_gene': 'HNRNPA2B1', 'score': 12.66}, {'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA1', 'score': 11.49}, {'connected_gene': 'HOXA2', 'score': 11.1}, {'connected_gene': 'HOXA9', 'score': 10.74}, {'connected_gene': 'HOXA10-AS', 'score': 10.74}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'KIAA0087', 'score': 9.85}, {'connected_gene': 'SNX10', 'score': 5.33}, {'connected_gene': 'GC07P026846', 'score': 0.34}, {'connected_gene': 'RPL7AP38', 'score': 0.22}]
chr7	GH07I027046	27046735	27047820	0.66	[{'connected_gene': 'NHP2P2', 'score': 550.77}, {'connected_gene': 'HOTAIRM1', 'score': 26.64}, {'connected_gene': 'HOXA1', 'score': 11.22}, {'connected_gene': 'HOXA2', 'score': 11.2}, {'connected_gene': 'HOXA-AS2', 'score': 11.03}, {'connected_gene': 'HOXA3', 'score': 10.96}, {'connected_gene': 'SKAP2', 'score': 10.66}, {'connected_gene': 'TPM3P4', 'score': 0.34}]
chr7	GH07I026853	26853902	26854051	0.77	[{'connected_gene': 'HOXA5', 'score': 18.37}, {'connected_gene': 'HOXA-AS3', 'score': 11.99}, {'connected_gene': 'HOXA4', 'score': 11.99}, {'connected_gene': 'HOXA6', 'score': 11.99}, {'connected_gene': 'HOXA3', 'score': 11.99}, {'connected_gene': 'HOTAIRM1', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.11}]
chr7	GH07I027095	27095069	27181321	3.41	[{'connected_gene': 'HOXA2', 'score': 576.17}, {'connected_gene': 'HOXA9', 'score': 568.02}, {'connected_gene': 'HOXA10', 'score': 565.55}, {'connected_gene': 'HOXA1', 'score': 562.16}, {'connected_gene': 'HOXA3', 'score': 560.98}, {'connected_gene': 'HOXA6', 'score': 557.72}, {'connected_gene': 'HOXA4', 'score': 553.76}, {'connected_gene': 'HOXA5', 'score': 553.17}, {'connected_gene': 'HOXA7', 'score': 552.7}, {'connected_gene': 'HNRNPA2B1', 'score': 58.04}, {'connected_gene': 'HOTAIRM1', 'score': 43.49}, {'connected_gene': 'HOXA10-AS', 'score': 27.61}, {'connected_gene': 'HOXA-AS2', 'score': 21.16}, {'connected_gene': 'CBX3', 'score': 19.35}, {'connected_gene': 'HOXA11-AS', 'score': 15.79}, {'connected_gene': 'HOXA11', 'score': 14.27}, {'connected_gene': 'SKAP2', 'score': 13.15}, {'connected_gene': 'HOXA13', 'score': 12.76}, {'connected_gene': 'ENSG00000253508', 'score': 11.26}, {'connected_gene': 'HOTTIP', 'score': 11.25}, {'connected_gene': 'LOC105375304', 'score': 10.2}, {'connected_gene': 'KIAA0087', 'score': 9.83}, {'connected_gene': 'HOXA-AS3', 'score': 0.44}, {'connected_gene': 'ENSG00000272801', 'score': 0.39}, {'connected_gene': 'ENSG00000273433', 'score': 0.39}, {'connected_gene': 'LOC105375205', 'score': 0.34}, {'connected_gene': 'ENSG00000270182', 'score': 0.34}, {'connected_gene': 'GC07P027116', 'score': 0.34}, {'connected_gene': 'GC07M027172', 'score': 0.29}, {'connected_gene': 'MIR196B', 'score': 0.29}, {'connected_gene': 'ENSG00000277694', 'score': 0.28}, {'connected_gene': 'ENSG00000274396', 'score': 0.28}, {'connected_gene': 'ENSG00000274864', 'score': 0.28}, {'connected_gene': 'ENSG00000276771', 'score': 0.28}, {'connected_gene': 'ENSG00000257184', 'score': 0.26}, {'connected_gene': 'HOXA10-HOXA9', 'score': 0.26}, {'connected_gene': 'ENSG00000276528', 'score': 0.26}]
chr7	GH07I027082	27082302	27082451	0.2	[{'connected_gene': 'HOXA2', 'score': 11.98}, {'connected_gene': 'HOXA-AS2', 'score': 11.96}, {'connected_gene': 'HOXA3', 'score': 11.84}, {'connected_gene': 'HOTAIRM1', 'score': 0.39}, {'connected_gene': 'NHP2P2', 'score': 0.29}]
chr7	GH07I026813	26813526	26813881	0.66	[{'connected_gene': 'HOXA2', 'score': 10.46}, {'connected_gene': 'HOXA-AS2', 'score': 10.46}, {'connected_gene': 'HOXA3', 'score': 10.46}, {'connected_gene': 'HOTAIRM1', 'score': 10.16}, {'connected_gene': 'HOXA1', 'score': 10.16}, {'connected_gene': 'HOXA5', 'score': 6.44}, {'connected_gene': 'GC07P026846', 'score': 0.31}, {'connected_gene': 'GC07M026718', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.09}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7	GH07I026186	26186401	26189490	1.31	[{'connected_gene': 'HNRNPA2B1', 'score': 12.2}, {'connected_gene': 'HOXA3', 'score': 10.28}, {'connected_gene': 'ENSG00000273237', 'score': 5.38}, {'connected_gene': 'CBX3', 'score': 4.68}, {'connected_gene': 'GC07M026184', 'score': 0.77}, {'connected_gene': 'NFE2L3', 'score': 0.28}]
chr7	GH07I026195	26195735	26205800	2.52	[{'connected_gene': 'HNRNPA2B1', 'score': 583.89}, {'connected_gene': 'CBX3', 'score': 550.77}, {'connected_gene': 'HOXA3', 'score': 10.28}, {'connected_gene': 'ENSG00000273237', 'score': 4.76}, {'connected_gene': 'GC07M026184', 'score': 0.37}]
chr7	GH07I027661	27661231	27664574	2.09	[{'connected_gene': 'HIBADH', 'score': 562.46}, {'connected_gene': 'EIF4HP1', 'score': 23.98}, {'connected_gene': 'HOXA7', 'score': 11.02}, {'connected_gene': 'HOXA3', 'score': 10.29}, {'connected_gene': 'LOC105375211', 'score': 0.37}]
chr7	GH07I026909	26909372	26910786	0.92	[{'connected_gene': 'HOTAIRM1', 'score': 17.72}, {'connected_gene': 'SKAP2', 'score': 13.3}, {'connected_gene': 'HOXA2', 'score': 10.08}, {'connected_gene': 'HOXA-AS2', 'score': 10.08}, {'connected_gene': 'HOXA3', 'score': 10.06}, {'connected_gene': 'RPL7AP38', 'score': 0.39}, {'connected_gene': 'GC07P026846', 'score': 0.2}]
chr7	GH07I027080	27080822	27081671	0.54	[{'connected_gene': 'HOTAIRM1', 'score': 16.04}, {'connected_gene': 'SKAP2', 'score': 12.02}, {'connected_gene': 'HOXA2', 'score': 11.98}, {'connected_gene': 'HOXA-AS2', 'score': 11.96}, {'connected_gene': 'HOXA3', 'score': 11.84}, {'connected_gene': 'NHP2P2', 'score': 0.29}]
chr7	GH07I027030	27030496	27032539	0.86	[{'connected_gene': 'HOTAIRM1', 'score': 54.94}, {'connected_gene': 'SKAP2', 'score': 23.51}, {'connected_gene': 'HOXA1', 'score': 11.35}, {'connected_gene': 'HOXA2', 'score': 10.97}, {'connected_gene': 'HOXA-AS2', 'score': 10.42}, {'connected_gene': 'HOXA3', 'score': 10.37}, {'connected_gene': 'TPM3P4', 'score': 0.44}, {'connected_gene': 'NHP2P2', 'score': 0.37}]
chr7	GH07I026855	26855142	26859953	1.26	[{'connected_gene': 'HOTAIRM1', 'score': 36.78}, {'connected_gene': 'HOXA5', 'score': 18.57}, {'connected_gene': 'HOXA-AS3', 'score': 12.19}, {'connected_gene': 'HOXA4', 'score': 12.19}, {'connected_gene': 'HOXA3', 'score': 12.19}, {'connected_gene': 'HOXA6', 'score': 12.19}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'HOXA2', 'score': 11.69}, {'connected_gene': 'HOXA-AS2', 'score': 11.16}, {'connected_gene': 'SKAP2', 'score': 6.46}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.21}]
chr7	GH07I027066	27066282	27066431	0.67	[{'connected_gene': 'HOTAIRM1', 'score': 12.07}, {'connected_gene': 'HOXA1', 'score': 12.07}, {'connected_gene': 'HOXA2', 'score': 12.03}, {'connected_gene': 'HOXA-AS2', 'score': 11.25}, {'connected_gene': 'HOXA3', 'score': 11.16}, {'connected_gene': 'SKAP2', 'score': 10.28}, {'connected_gene': 'NHP2P2', 'score': 0.37}]
chr7	GH07I026860	26860462	26860611	0.74	[{'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA2', 'score': 11.11}, {'connected_gene': 'HOTAIRM1', 'score': 11.1}, {'connected_gene': 'HOXA1', 'score': 11.1}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'GC07P026846', 'score': 0.37}, {'connected_gene': 'RPL7AP38', 'score': 0.21}, {'connected_gene': 'SKAP2', 'score': 0.12}]
chr7	GH07I026673	26673279	26673526	0.4	[{'connected_gene': 'GC07P026673', 'score': 550.77}, {'connected_gene': 'HOXA3', 'score': 12.06}, {'connected_gene': 'LOC105375304', 'score': 11.04}, {'connected_gene': 'GC07M026718', 'score': 0.19}, {'connected_gene': 'SKAP2', 'score': 0.05}, {'connected_gene': 'GC07P026242', 'score': 0.04}]