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
ENST00000269576	[[38974368, 38974734], [38975038, 38975413], [38975768, 38975986], [38976300, 38976426], [38976513, 38976675], [38976762, 38976919], [38977286, 38977369], [38978210, 38978847]]	[[38974727, 38974734], [38975038, 38975413], [38975768, 38975986], [38976300, 38976426], [38976513, 38976675], [38976762, 38976919], [38977286, 38977369], [38978210, 38978837]]
NM_000421	[[38974368, 38974734], [38975038, 38975413], [38975768, 38975986], [38976300, 38976426], [38976513, 38976675], [38976762, 38976919], [38977286, 38977369], [38978210, 38978863]]	[[38974727, 38974734], [38975038, 38975413], [38975768, 38975986], [38976300, 38976426], [38976513, 38976675], [38976762, 38976919], [38977286, 38977369], [38978210, 38978837]]

Promoter

Chrom	Start	End	Description
chr17	38975796	38975805	CAGE_peak_13_at_KRT10_5end
chr17	38975820	38975830	CAGE_peak_10_at_KRT10_5end
chr17	38975839	38975846	CAGE_peak_14_at_KRT10_5end
chr17	38975850	38975854	CAGE_peak_19_at_KRT10_5end
chr17	38975877	38975899	CAGE_peak_4_at_KRT10_5end
chr17	38975907	38975928	CAGE_peak_3_at_KRT10_5end
chr17	38976407	38976413	CAGE_peak_20_at_KRT10_5end
chr17	38978257	38978272	CAGE_peak_6_at_KRT10_5end
chr17	38978288	38978293	CAGE_peak_21_at_KRT10_5end
chr17	38978422	38978432	CAGE_peak_12_at_KRT10_5end
chr17	38978519	38978529	CAGE_peak_9_at_KRT10_5end
chr17	38978586	38978620	CAGE_peak_5_at_KRT10_5end
chr17	38978621	38978636	CAGE_peak_8_at_KRT10_5end
chr17	38978856	38978875	CAGE_peak_1_at_KRT10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I040478	40478436	40502480	2.24	[{'connected_gene': 'TNS4', 'score': 557.7}, {'connected_gene': 'SNORD124', 'score': 36.8}, {'connected_gene': 'SMARCE1', 'score': 21.15}, {'connected_gene': 'MED24', 'score': 20.14}, {'connected_gene': 'IGFBP4', 'score': 15.8}, {'connected_gene': 'KRT10', 'score': 12.49}, {'connected_gene': 'RPL23AP75', 'score': 11.48}, {'connected_gene': 'TOP2A', 'score': 10.93}, {'connected_gene': 'RAPGEFL1', 'score': 7.1}, {'connected_gene': 'CDC6', 'score': 4.77}, {'connected_gene': 'ORMDL3', 'score': 4.69}, {'connected_gene': 'WIPF2', 'score': 4.15}, {'connected_gene': 'THRA', 'score': 3.32}, {'connected_gene': 'KRT222', 'score': 2.7}, {'connected_gene': 'KRT24', 'score': 2.15}, {'connected_gene': 'MSL1', 'score': 1.92}, {'connected_gene': 'GJD3', 'score': 1.29}, {'connected_gene': 'GC17P040488', 'score': 0.77}]
chr17	GH17I040822	40822604	40822663	0.99	[{'connected_gene': 'KRT10', 'score': 550.77}, {'connected_gene': 'TMEM99', 'score': 0.77}, {'connected_gene': 'PIR60311', 'score': 0.39}, {'connected_gene': 'GC17P040810', 'score': 0.39}]
chr17	GH17I040817	40817824	40821220	1.98	[{'connected_gene': 'TMEM99', 'score': 566.49}, {'connected_gene': 'KRT34', 'score': 6.36}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'KRT13', 'score': 4.89}, {'connected_gene': 'KRT10', 'score': 0.77}, {'connected_gene': 'GC17P040810', 'score': 0.44}]
chr17	GH17I040846	40846920	40847005	0.58	[{'connected_gene': 'TMEM99', 'score': 34.99}, {'connected_gene': 'KRT10', 'score': 16.52}, {'connected_gene': 'KRT28', 'score': 10.62}, {'connected_gene': 'KRT27', 'score': 9.96}, {'connected_gene': 'KRT26', 'score': 9.59}, {'connected_gene': 'ENSG00000234477', 'score': 9.5}, {'connected_gene': 'KRT222', 'score': 8.91}, {'connected_gene': 'SMARCE1', 'score': 8.91}, {'connected_gene': 'KRTAP2-1', 'score': 1.71}, {'connected_gene': 'LOC105371777', 'score': 0.77}, {'connected_gene': 'PIR55120', 'score': 0.39}]
chr17	GH17I040825	40825707	40826626	0.64	[{'connected_gene': 'TMEM99', 'score': 35.02}, {'connected_gene': 'KRT27', 'score': 10.52}, {'connected_gene': 'KRT23', 'score': 9.03}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'KRT10', 'score': 0.77}, {'connected_gene': 'PIR60311', 'score': 0.44}, {'connected_gene': 'GC17P040810', 'score': 0.37}]
chr17	GH17I040827	40827145	40830016	1.04	[{'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'KRT27', 'score': 10.5}, {'connected_gene': 'KRT23', 'score': 9.04}, {'connected_gene': 'MED24', 'score': 6.05}, {'connected_gene': 'PIR60311', 'score': 0.77}, {'connected_gene': 'KRT10', 'score': 0.44}, {'connected_gene': 'TMEM99', 'score': 0.44}]