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
ENST00000587069	[[10683346, 10683571], [10685092, 10685168], [10685579, 10685705], [10687873, 10687990]]	[[10683503, 10683571], [10685092, 10685168], [10685579, 10685705], [10687873, 10687990]]
ENST00000590923	[[10683346, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690540], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697991]]	[[10683741, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690540], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697907]]
ENST00000250244	[[10683347, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697990]]	[[10683741, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697907]]
ENST00000589348	[[10683364, 10683764], [10685092, 10685168], [10687873, 10687907]]	[[10683741, 10683764], [10685092, 10685168], [10687873, 10687907]]
ENST00000592285	[[10685033, 10685168], [10685579, 10685705], [10687873, 10687948]]	[[10685057, 10685168], [10685579, 10685705], [10687873, 10687948]]
ENST00000591240	[[10687947, 10688032], [10689567, 10689639], [10690391, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10697865, 10697895]]	[[10687947, 10688032], [10689567, 10689639], [10690391, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10697865, 10697895]]
ENST00000589684	[[10690411, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697830, 10697926]]	[[10690411, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694710]]
ENST00000591676	[[10691957, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694746], [10697865, 10697971]]	[[10691957, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694746], [10697865, 10697907]]
ENST00000589571	[[10692421, 10692554], [10694281, 10694349], [10694589, 10694746], [10695645, 10695720], [10697865, 10697975]]	[[10695645, 10695720], [10697865, 10697907]]
ENST00000589809	[[10694235, 10694746], [10697865, 10697895]]	None
NM_001300887	[[10683346, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690540], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697991]]	[[10683741, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690540], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697907]]
NM_005498	[[10683346, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697991]]	[[10683741, 10683764], [10685092, 10685168], [10685579, 10685705], [10687873, 10688032], [10689567, 10689639], [10690391, 10690534], [10691941, 10692068], [10692162, 10692310], [10692423, 10692554], [10694281, 10694349], [10694589, 10694746], [10697865, 10697907]]

Promoter

Chrom	Start	End	Description
chr19	10697917	10697993	CAGE_peak_1_at_AP1M2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I010543	10543160	10545742	2	[{'connected_gene': 'ATG4D', 'score': 550.77}, {'connected_gene': 'KRI1', 'score': 39.14}, {'connected_gene': 'ILF3', 'score': 30.23}, {'connected_gene': 'ZNF562', 'score': 21.98}, {'connected_gene': 'LOC100419831', 'score': 21.48}, {'connected_gene': 'ZNF121', 'score': 21.05}, {'connected_gene': 'FBXL12', 'score': 18.56}, {'connected_gene': 'RAVER1', 'score': 17.79}, {'connected_gene': 'ZNF561', 'score': 14.9}, {'connected_gene': 'PRKCSH', 'score': 13.74}, {'connected_gene': 'PPAN', 'score': 11.51}, {'connected_gene': 'TYK2', 'score': 11.4}, {'connected_gene': 'CDC37', 'score': 11.27}, {'connected_gene': 'AP1M2', 'score': 10.05}, {'connected_gene': 'QTRT1', 'score': 9.81}, {'connected_gene': 'DNMT1', 'score': 9.68}, {'connected_gene': 'RPL18AP13', 'score': 9.65}, {'connected_gene': 'SLC44A2', 'score': 5.47}, {'connected_gene': 'GC19M010552', 'score': 0.44}]
chr19	GH19I010959	10959625	10964488	2.05	[{'connected_gene': 'SMARCA4', 'score': 563.82}, {'connected_gene': 'ILF3-AS1', 'score': 6.07}, {'connected_gene': 'AP1M2', 'score': 5.53}, {'connected_gene': 'GC19P011005', 'score': 0.26}]
chr19	GH19I010572	10572201	10572937	1.15	[{'connected_gene': 'KRI1', 'score': 34.02}, {'connected_gene': 'ILF3', 'score': 26.95}, {'connected_gene': 'PPAN', 'score': 20.53}, {'connected_gene': 'CDKN2D', 'score': 20.37}, {'connected_gene': 'FBXL12', 'score': 18.56}, {'connected_gene': 'RAVER1', 'score': 17.78}, {'connected_gene': 'ZNF561', 'score': 14.9}, {'connected_gene': 'PRKCSH', 'score': 13.74}, {'connected_gene': 'ZNF627', 'score': 11.69}, {'connected_gene': 'TYK2', 'score': 11.39}, {'connected_gene': 'ZNF562', 'score': 11.3}, {'connected_gene': 'CDC37', 'score': 11.25}, {'connected_gene': 'DNMT1', 'score': 10.92}, {'connected_gene': 'ZNF121', 'score': 10.5}, {'connected_gene': 'LOC100419831', 'score': 10.22}, {'connected_gene': 'ATG4D', 'score': 10.05}, {'connected_gene': 'AP1M2', 'score': 0.39}]
chr19	GH19I011064	11064549	11066078	0.89	[{'connected_gene': 'KRI1', 'score': 12.88}, {'connected_gene': 'DNMT1', 'score': 10.9}, {'connected_gene': 'PPAN', 'score': 10.76}, {'connected_gene': 'ILF3', 'score': 10.1}, {'connected_gene': 'ATG4D', 'score': 9.77}, {'connected_gene': 'SMARCA4', 'score': 9.01}, {'connected_gene': 'ILF3-AS1', 'score': 4.98}, {'connected_gene': 'AP1M2', 'score': 4.47}, {'connected_gene': 'GC19M011064', 'score': 0.77}, {'connected_gene': 'PIR38577', 'score': 0.39}]
chr19	GH19I010595	10595201	10597200	1.37	[{'connected_gene': 'KRI1', 'score': 40.32}, {'connected_gene': 'CDKN2D', 'score': 28.1}, {'connected_gene': 'SLC44A2', 'score': 26.79}, {'connected_gene': 'ICAM3', 'score': 14.76}, {'connected_gene': 'ATG4D', 'score': 12.92}, {'connected_gene': 'ILF3', 'score': 12.61}, {'connected_gene': 'TYK2', 'score': 6.14}, {'connected_gene': 'DNM2', 'score': 4.16}, {'connected_gene': 'C19orf38', 'score': 2.96}, {'connected_gene': 'S1PR5', 'score': 2.07}, {'connected_gene': 'LOC100820734', 'score': 0.77}, {'connected_gene': 'AP1M2', 'score': 0.44}]
chr19	GH19I010593	10593339	10594894	1.09	[{'connected_gene': 'KRI1', 'score': 42.74}, {'connected_gene': 'CDKN2D', 'score': 27.65}, {'connected_gene': 'ILF3', 'score': 27.57}, {'connected_gene': 'ZNF561', 'score': 20.88}, {'connected_gene': 'EIF3G', 'score': 20.31}, {'connected_gene': 'TIMM29', 'score': 14.83}, {'connected_gene': 'PPAN', 'score': 13.9}, {'connected_gene': 'ZNF627', 'score': 13.68}, {'connected_gene': 'RAVER1', 'score': 13.67}, {'connected_gene': 'SWSAP1', 'score': 11.81}, {'connected_gene': 'FBXL12', 'score': 11.61}, {'connected_gene': 'ATG4D', 'score': 11.51}, {'connected_gene': 'DNM2', 'score': 10.72}, {'connected_gene': 'LOC100419831', 'score': 10.67}, {'connected_gene': 'ZNF846', 'score': 9.96}, {'connected_gene': 'ACP5', 'score': 9.93}, {'connected_gene': 'LOC100820734', 'score': 0.77}, {'connected_gene': 'AP1M2', 'score': 0.44}]
chr19	GH19I010796	10796080	10800188	0.91	[{'connected_gene': 'SLC44A2', 'score': 8.11}, {'connected_gene': 'SMARCA4', 'score': 5.77}, {'connected_gene': 'AP1M2', 'score': 4.38}, {'connected_gene': 'PIR56040', 'score': 0.77}, {'connected_gene': 'GC19P010786', 'score': 0.39}, {'connected_gene': 'DNM2', 'score': 0.18}]
chr19	GH19I010615	10615227	10619345	1.57	[{'connected_gene': 'SLC44A2', 'score': 25.14}, {'connected_gene': 'KRI1', 'score': 16.68}, {'connected_gene': 'ILF3', 'score': 15.25}, {'connected_gene': 'TIMM29', 'score': 14.83}, {'connected_gene': 'PPAN', 'score': 13.89}, {'connected_gene': 'ZNF627', 'score': 13.68}, {'connected_gene': 'ZNF561', 'score': 12.94}, {'connected_gene': 'AP1M2', 'score': 12.43}, {'connected_gene': 'FBXL12', 'score': 11.61}, {'connected_gene': 'ILF3-AS1', 'score': 11.46}, {'connected_gene': 'LOC100419831', 'score': 10.67}, {'connected_gene': 'ZNF846', 'score': 9.96}, {'connected_gene': 'EIF3G', 'score': 9.84}, {'connected_gene': 'PIR56383', 'score': 0.28}]
chr19	GH19I010592	10592001	10592400	0.46	[{'connected_gene': 'SLC44A2', 'score': 14.48}, {'connected_gene': 'KRI1', 'score': 6.66}, {'connected_gene': 'AP1M2', 'score': 0.77}, {'connected_gene': 'LOC100820734', 'score': 0.44}]
chr19	GH19I010601	10601933	10606313	2.53	[{'connected_gene': 'SLC44A2', 'score': 584.37}, {'connected_gene': 'CDKN2D', 'score': 33.73}, {'connected_gene': 'KRI1', 'score': 23.48}, {'connected_gene': 'ICAM3', 'score': 22.24}, {'connected_gene': 'ILF3', 'score': 12.46}, {'connected_gene': 'ZNF627', 'score': 11.36}, {'connected_gene': 'PRKCSH', 'score': 11.32}, {'connected_gene': 'TYK2', 'score': 8.31}, {'connected_gene': 'DNM2', 'score': 6.88}, {'connected_gene': 'S1PR5', 'score': 6.07}, {'connected_gene': 'ATG4D', 'score': 5.18}, {'connected_gene': 'AP1M2', 'score': 5.1}, {'connected_gene': 'C19orf38', 'score': 3.7}, {'connected_gene': 'PDE4A', 'score': 2.46}, {'connected_gene': 'ICAM1', 'score': 2.08}, {'connected_gene': 'PIR56383', 'score': 0.25}]
chr19	GH19I011063	11063594	11064267	0.2	[{'connected_gene': 'KANK2', 'score': 11.67}, {'connected_gene': 'SMARCA4', 'score': 8.65}, {'connected_gene': 'AP1M2', 'score': 5.13}, {'connected_gene': 'SWSAP1', 'score': 5.1}, {'connected_gene': 'SPC24', 'score': 4.91}, {'connected_gene': 'GC19M011064', 'score': 0.44}, {'connected_gene': 'PIR38577', 'score': 0.39}]
chr19	GH19I010576	10576680	10578014	0.75	[{'connected_gene': 'CDKN2D', 'score': 23.76}, {'connected_gene': 'AP1M2', 'score': 13.99}, {'connected_gene': 'KRI1', 'score': 5.83}]
chr19	GH19I010580	10580924	10581602	1.13	[{'connected_gene': 'CDKN2D', 'score': 23.56}, {'connected_gene': 'AP1M2', 'score': 0.44}]
chr19	GH19I010586	10586824	10587894	1.44	[{'connected_gene': 'AP1M2', 'score': 550.77}, {'connected_gene': 'KRI1', 'score': 11.63}, {'connected_gene': 'ILF3-AS1', 'score': 10.49}, {'connected_gene': 'LOC100419831', 'score': 10.43}, {'connected_gene': 'SLC44A2', 'score': 5.37}, {'connected_gene': 'LOC100820734', 'score': 0.39}]