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
ENST00000579237	[[12569206, 12569560], [12608444, 12608510], [12613811, 12613855], [12618835, 12618891], [12620662, 12620707]]	[[12569505, 12569560], [12608444, 12608510], [12613811, 12613816]]
ENST00000425538	[[12569305, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12659730, 12659874], [12661401, 12661530], [12663966, 12664024], [12666389, 12672266]]	[[12569505, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12659730, 12659874], [12661401, 12661530], [12663966, 12664024], [12666389, 12666961]]
ENST00000343344	[[12569505, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12661401, 12661530], [12663966, 12664024], [12666389, 12666961]]	[[12569505, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12661401, 12661530], [12663966, 12664024], [12666389, 12666961]]
ENST00000395988	[[12623605, 12623778], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12659730, 12659874], [12661401, 12661623]]	None
ENST00000443061	[[12647667, 12647753], [12649235, 12649389], [12655730, 12656663], [12659730, 12659874], [12663966, 12664024], [12666389, 12668646]]	[[12647667, 12647753], [12649235, 12649389], [12655730, 12656663], [12659730, 12659874], [12663966, 12664024], [12666389, 12666961]]
NM_153604	[[12569206, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12661401, 12661530], [12663966, 12664024], [12666389, 12672266]]	[[12569505, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12661401, 12661530], [12663966, 12664024], [12666389, 12666961]]
NM_001146312	[[12569206, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12659730, 12659874], [12661401, 12661530], [12663966, 12664024], [12666389, 12672266]]	[[12569505, 12569560], [12608444, 12608510], [12618835, 12618891], [12620662, 12620738], [12626163, 12626325], [12639477, 12639653], [12642519, 12642645], [12647499, 12647753], [12649235, 12649389], [12655730, 12656663], [12659730, 12659874], [12661401, 12661530], [12663966, 12664024], [12666389, 12666961]]

Promoter

Chrom	Start	End	Description
chr17	12569199	12569216	CAGE_peak_1_at_MYOCD_5end
chr17	12569325	12569344	CAGE_peak_2_at_MYOCD_5end
chr17	12569359	12569380	CAGE_peak_3_at_MYOCD_5end
chr17	12569384	12569402	CAGE_peak_4_at_MYOCD_5end
chr17	12569472	12569482	CAGE_peak_5_at_MYOCD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I012745	12745380	12746196	0.2	[{'connected_gene': 'ARHGAP44', 'score': 10.7}, {'connected_gene': 'GC17P012738', 'score': 0.44}, {'connected_gene': 'PIR47070', 'score': 0.37}, {'connected_gene': 'MYOCD', 'score': 0.18}]
chr17	GH17I012721	12721116	12723627	0.31	[{'connected_gene': 'MYOCD', 'score': 10.87}, {'connected_gene': 'ARHGAP44', 'score': 10.38}, {'connected_gene': 'GC17P012717', 'score': 0.44}, {'connected_gene': 'GC17P012738', 'score': 0.37}]
chr17	GH17I012636	12636555	12638056	0.76	[{'connected_gene': 'MYOCD', 'score': 11.93}, {'connected_gene': 'GC17M012650', 'score': 0.39}, {'connected_gene': 'GC17M012612', 'score': 0.37}, {'connected_gene': 'LINC00670', 'score': 0.17}]
chr17	GH17I012693	12693663	12695715	0.2	[{'connected_gene': 'MYOCD', 'score': 11.35}, {'connected_gene': 'LOC101928418', 'score': 0.39}, {'connected_gene': 'GC17M012664', 'score': 0.31}]
chr17	GH17I012712	12712173	12713316	0.2	[{'connected_gene': 'MYOCD', 'score': 10.93}, {'connected_gene': 'GC17P012717', 'score': 0.77}, {'connected_gene': 'LOC101928418', 'score': 0.44}]
chr17	GH17I012643	12643831	12644942	0.43	[{'connected_gene': 'MYOCD', 'score': 13.04}, {'connected_gene': 'GC17M012650', 'score': 0.44}, {'connected_gene': 'GC17M012612', 'score': 0.34}]
chr17	GH17I012663	12663772	12667824	2.02	[{'connected_gene': 'MYOCD', 'score': 550.77}, {'connected_gene': 'GC17M012664', 'score': 550.77}, {'connected_gene': 'GC17M012650', 'score': 0.39}]
chr17	GH17I013025	13025289	13025622	0.6	[{'connected_gene': 'ELAC2', 'score': 10.1}, {'connected_gene': 'MYOCD', 'score': 1.86}, {'connected_gene': 'ENSG00000273098', 'score': 0.19}]
chr17	GH17I012741	12741978	12742973	1.07	[{'connected_gene': 'LOC101928418', 'score': 11.18}, {'connected_gene': 'ARHGAP44', 'score': 10.45}, {'connected_gene': 'GC17P012738', 'score': 0.77}, {'connected_gene': 'PIR47070', 'score': 0.34}, {'connected_gene': 'MYOCD', 'score': 0.18}]
chr17	GH17I012743	12743184	12743333	0.4	[{'connected_gene': 'LOC101928418', 'score': 11.18}, {'connected_gene': 'ARHGAP44', 'score': 10.45}, {'connected_gene': 'GC17P012738', 'score': 0.77}, {'connected_gene': 'PIR47070', 'score': 0.34}, {'connected_gene': 'MYOCD', 'score': 0.18}]
chr17	GH17I012678	12678883	12684553	0.43	[{'connected_gene': 'LOC101928418', 'score': 11.62}, {'connected_gene': 'MYOCD', 'score': 0.37}, {'connected_gene': 'GC17M012664', 'score': 0.37}]
chr17	GH17I012705	12705242	12707113	0.38	[{'connected_gene': 'LOC101928418', 'score': 550.77}, {'connected_gene': 'GC17P012717', 'score': 0.39}, {'connected_gene': 'MYOCD', 'score': 0.26}]
chr17	GH17I012690	12690187	12692360	0.31	[{'connected_gene': 'LOC101928418', 'score': 0.39}, {'connected_gene': 'GC17M012664', 'score': 0.34}, {'connected_gene': 'MYOCD', 'score': 0.31}]
chr17	GH17I012734	12734926	12735478	0.51	[{'connected_gene': 'GC17P012738', 'score': 0.77}, {'connected_gene': 'GC17P012717', 'score': 0.37}, {'connected_gene': 'MYOCD', 'score': 0.2}]
chr17	GH17I012726	12726162	12728442	0.76	[{'connected_gene': 'GC17P012738', 'score': 0.39}, {'connected_gene': 'GC17P012717', 'score': 0.39}, {'connected_gene': 'MYOCD', 'score': 0.21}]
chr17	GH17I012729	12729857	12733258	1.09	[{'connected_gene': 'GC17P012738', 'score': 0.44}, {'connected_gene': 'GC17P012717', 'score': 0.39}, {'connected_gene': 'MYOCD', 'score': 0.2}]
chr17	GH17I012737	12737122	12738279	0.43	[{'connected_gene': 'GC17P012738', 'score': 550.77}, {'connected_gene': 'LOC101928418', 'score': 11.52}, {'connected_gene': 'GC17P012717', 'score': 0.34}, {'connected_gene': 'MYOCD', 'score': 0.19}]