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
ENST00000283921	[[27210209, 27211792], [27212967, 27213925]]	[[27211517, 27211792], [27212967, 27213925]]
ENST00000396344	[[27210838, 27211792], [27219264, 27219880]]	[[27211517, 27211792], [27219264, 27219274]]
ENST00000524368	[[27210996, 27211792], [27212436, 27212582]]	None
ENST00000521421	[[27211081, 27211792], [27212032, 27212508]]	None
ENST00000519593	[[27211395, 27211792], [27212182, 27212508]]	None
NM_018951	[[27210209, 27211792], [27212967, 27213955]]	[[27211517, 27211792], [27212967, 27213925]]
NR_037939	[[27210209, 27211792], [27219264, 27219880]]	None

Promoter

Chrom	Start	End	Description
chr7	27212374	27212387	CAGE_peak_12_at_HOXA10_5end
chr7	27212407	27212421	CAGE_peak_9_at_HOXA10_5end
chr7	27212501	27212513	CAGE_peak_5_at_HOXA10_5end
chr7	27213696	27213713	CAGE_peak_10_at_HOXA10_5end
chr7	27213808	27213816	CAGE_peak_11_at_HOXA10_5end
chr7	27213831	27213839	CAGE_peak_17_at_HOXA10_5end
chr7	27213872	27213886	CAGE_peak_4_at_HOXA10_5end
chr7	27213893	27213954	CAGE_peak_1_at_HOXA10_5end
chr7	27219754	27219759	CAGE_peak_16_at_HOXA10_5end
chr7	27219833	27219845	CAGE_peak_7_at_HOXA10_5end
chr7	27219849	27219867	CAGE_peak_6_at_HOXA10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I028018	28018649	28020856	0.97	[{'connected_gene': 'HOXA13', 'score': 10.82}, {'connected_gene': 'ENSG00000253508', 'score': 10.82}, {'connected_gene': 'HOTTIP', 'score': 10.82}, {'connected_gene': 'HOXA11', 'score': 10.29}, {'connected_gene': 'HOXA11-AS', 'score': 10.29}, {'connected_gene': 'HOXA10', 'score': 10.29}, {'connected_gene': 'HOXA9', 'score': 10.29}, {'connected_gene': 'PIR54187', 'score': 0.39}, {'connected_gene': 'PIR39851', 'score': 0.12}, {'connected_gene': 'JAZF1', 'score': 0.1}]
chr7	GH07I028017	28017713	28018307	0.43	[{'connected_gene': 'HOXA13', 'score': 10.34}, {'connected_gene': 'HOTTIP', 'score': 10.34}, {'connected_gene': 'ENSG00000253508', 'score': 10.33}, {'connected_gene': 'HOXA11-AS', 'score': 10.12}, {'connected_gene': 'HOXA11', 'score': 10.12}, {'connected_gene': 'HOXA10', 'score': 10.12}, {'connected_gene': 'HOXA9', 'score': 10.12}, {'connected_gene': 'PIR54187', 'score': 0.39}, {'connected_gene': 'PIR39851', 'score': 0.12}, {'connected_gene': 'JAZF1', 'score': 0.1}]
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	GH07I028082	28082367	28084999	1.11	[{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7	GH07I028081	28081201	28081400	0.2	[{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7	GH07I027181	27181747	27186891	2.32	[{'connected_gene': 'HOXA11-AS', 'score': 577.77}, {'connected_gene': 'GC07P027261', 'score': 550.77}, {'connected_gene': 'GC07P027263', 'score': 550.77}, {'connected_gene': 'ENSG00000278334', 'score': 550.77}, {'connected_gene': 'HOXA11', 'score': 550.77}, {'connected_gene': 'ENSG00000276496', 'score': 550.77}, {'connected_gene': 'ENSG00000273961', 'score': 550.77}, {'connected_gene': 'HOXA10-AS', 'score': 7.18}, {'connected_gene': 'HOTAIRM1', 'score': 5.99}, {'connected_gene': 'HOXA10-HOXA9', 'score': 0.77}, {'connected_gene': 'HOXA10', 'score': 0.77}, {'connected_gene': 'ENSG00000253508', 'score': 0.44}]
chr7	GH07I027784	27784400	27784800	0.96	[{'connected_gene': 'HIBADH', 'score': 11.07}, {'connected_gene': 'HOXA11-AS', 'score': 10.23}, {'connected_gene': 'HOXA10', 'score': 10.23}, {'connected_gene': 'HOXA9', 'score': 10.23}, {'connected_gene': 'HOXA11', 'score': 10.23}, {'connected_gene': 'HOTTIP', 'score': 10.2}, {'connected_gene': 'HOXA13', 'score': 10.2}, {'connected_gene': 'ENSG00000253508', 'score': 10.2}, {'connected_gene': 'GC07M027748', 'score': 0.29}, {'connected_gene': 'GC07P027829', 'score': 0.26}, {'connected_gene': 'TAX1BP1', 'score': 0.25}]
chr7	GH07I027922	27922996	27923499	0.46	[{'connected_gene': 'ENSG00000253508', 'score': 11.56}, {'connected_gene': 'HOXA13', 'score': 11.56}, {'connected_gene': 'HOTTIP', 'score': 11.56}, {'connected_gene': 'HOXA11-AS', 'score': 10.71}, {'connected_gene': 'HOXA11', 'score': 10.71}, {'connected_gene': 'HOXA9', 'score': 10.71}, {'connected_gene': 'HOXA10', 'score': 10.71}, {'connected_gene': 'PIR39851', 'score': 0.28}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7	GH07I027920	27920991	27921638	1.04	[{'connected_gene': 'ENSG00000253508', 'score': 11.56}, {'connected_gene': 'HOXA13', 'score': 11.56}, {'connected_gene': 'HOTTIP', 'score': 11.56}, {'connected_gene': 'HOXA11-AS', 'score': 10.71}, {'connected_gene': 'HOXA11', 'score': 10.71}, {'connected_gene': 'HOXA9', 'score': 10.71}, {'connected_gene': 'HOXA10', 'score': 10.71}, {'connected_gene': 'ENSG00000253308', 'score': 10.65}, {'connected_gene': 'EVX1', 'score': 10.64}, {'connected_gene': 'EVX1-AS', 'score': 10.08}, {'connected_gene': 'PIR39851', 'score': 0.28}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7	GH07I027193	27192197	27192379	0.87	[{'connected_gene': 'ENSG00000253508', 'score': 550.77}, {'connected_gene': 'HOXA11', 'score': 7.27}, {'connected_gene': 'HOXA13', 'score': 6.05}, {'connected_gene': 'HOXA10', 'score': 4.95}, {'connected_gene': 'ENSG00000278020', 'score': 0.77}]
chr7	GH07I027204	27204847	27205717	0.38	[{'connected_gene': 'ENSG00000277553', 'score': 550.77}, {'connected_gene': 'HOXA10', 'score': 11.63}, {'connected_gene': 'HOXA9', 'score': 11.61}, {'connected_gene': 'ENSG00000253308', 'score': 11.54}, {'connected_gene': 'EVX1', 'score': 11.54}, {'connected_gene': 'EVX1-AS', 'score': 11.53}, {'connected_gene': 'ENSG00000277469', 'score': 0.77}, {'connected_gene': 'HOTTIP', 'score': 0.44}]
chr7	GH07I027203	27202161	27202758	0.54	[{'connected_gene': 'ENSG00000278708', 'score': 550.77}, {'connected_gene': 'ENSG00000276609', 'score': 550.77}, {'connected_gene': 'ENSG00000277469', 'score': 550.77}, {'connected_gene': 'ENSG00000253308', 'score': 11.98}, {'connected_gene': 'EVX1', 'score': 11.97}, {'connected_gene': 'EVX1-AS', 'score': 11.97}, {'connected_gene': 'HOXA10', 'score': 11.66}, {'connected_gene': 'HOXA9', 'score': 11.63}, {'connected_gene': 'HOTTIP', 'score': 0.77}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7	GH07I027210	27210239	27211438	0.83	[{'connected_gene': 'ENSG00000253308', 'score': 11.75}, {'connected_gene': 'EVX1', 'score': 11.75}, {'connected_gene': 'EVX1-AS', 'score': 11.73}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 9.33}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA13', 'score': 5.9}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7	GH07I027213	27213663	27213798	0.37	[{'connected_gene': 'ENSG00000253308', 'score': 11.77}, {'connected_gene': 'EVX1', 'score': 11.77}, {'connected_gene': 'EVX1-AS', 'score': 11.75}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA1', 'score': 9.32}, {'connected_gene': 'ENSG00000277553', 'score': 0.44}]