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
ENST00000447370	[[50452241, 50453493], [50455147, 50455229], [50455554, 50455651], [50461539, 50461827], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464429]]	[[50453226, 50453493], [50455147, 50455229], [50455554, 50455651], [50461539, 50461827], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464338]]
ENST00000426971	[[50452556, 50453493], [50455147, 50455229], [50455554, 50455651], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464338]]	[[50453226, 50453493], [50455147, 50455229], [50455554, 50455651], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464338]]
ENST00000426296	[[50452926, 50453493], [50455147, 50455229], [50461539, 50461715]]	[[50455224, 50455229], [50461539, 50461715]]
NM_052884	[[50452249, 50453493], [50455147, 50455229], [50455554, 50455651], [50461539, 50461827], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464429]]	[[50453226, 50453493], [50455147, 50455229], [50455554, 50455651], [50461539, 50461827], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464338]]
NM_001135163	[[50452249, 50453493], [50455147, 50455229], [50455554, 50455651], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464429]]	[[50453226, 50453493], [50455147, 50455229], [50455554, 50455651], [50461899, 50462157], [50462286, 50462334], [50462616, 50462880], [50463029, 50463077], [50463393, 50463678], [50463808, 50464192], [50464262, 50464338]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050003	50003426	50005284	1.05	[{'connected_gene': 'VRK3', 'score': 32.2}, {'connected_gene': 'DKKL1', 'score': 11.84}, {'connected_gene': 'ZNF473', 'score': 11.57}, {'connected_gene': 'PTOV1', 'score': 11.56}, {'connected_gene': 'SCAF1', 'score': 10.92}, {'connected_gene': 'IL4I1', 'score': 10.87}, {'connected_gene': 'NUP62', 'score': 10.87}, {'connected_gene': 'ATF5', 'score': 10.86}, {'connected_gene': 'SIGLEC16', 'score': 9.5}, {'connected_gene': 'SIGLEC11', 'score': 7.5}, {'connected_gene': 'ENSG00000276729', 'score': 0.39}]
chr19	GH19I049976	49976412	49977834	0.43	[{'connected_gene': 'SIGLEC16', 'score': 30.2}, {'connected_gene': 'VRK3', 'score': 20.87}, {'connected_gene': 'ENSG00000221125', 'score': 12.44}, {'connected_gene': 'SIGLEC11', 'score': 7.6}, {'connected_gene': 'ENSG00000276729', 'score': 0.26}]
chr19	GH19I049967	49967201	49967600	0.38	[{'connected_gene': 'SIGLEC16', 'score': 30.49}, {'connected_gene': 'VRK3', 'score': 21.02}, {'connected_gene': 'SIGLEC11', 'score': 0.44}]
chr19	GH19I049980	49980914	49983517	0.73	[{'connected_gene': 'SIGLEC16', 'score': 29.7}, {'connected_gene': 'NUP62', 'score': 26.75}, {'connected_gene': 'VRK3', 'score': 20.9}, {'connected_gene': 'POLD1', 'score': 20.17}, {'connected_gene': 'PTOV1-AS2', 'score': 18.33}, {'connected_gene': 'SNORD35A', 'score': 17.72}, {'connected_gene': 'IRF3', 'score': 16.8}, {'connected_gene': 'SNORD35B', 'score': 16.67}, {'connected_gene': 'SIGLEC11', 'score': 16.33}, {'connected_gene': 'ALDH16A1', 'score': 15.3}, {'connected_gene': 'PNKP', 'score': 13.51}, {'connected_gene': 'ENSG00000221125', 'score': 12.46}, {'connected_gene': 'PRR12', 'score': 12.25}, {'connected_gene': 'PIH1D1', 'score': 11.87}, {'connected_gene': 'IL4I1', 'score': 11.83}, {'connected_gene': 'ATF5', 'score': 11.83}, {'connected_gene': 'SNRNP70', 'score': 11.38}, {'connected_gene': 'RPS11', 'score': 10.61}, {'connected_gene': 'RPL13A', 'score': 10.33}, {'connected_gene': 'ZNF473', 'score': 8.86}, {'connected_gene': 'ENSG00000276729', 'score': 0.28}]
chr19	GH19I049971	49971201	49972000	0.2	[{'connected_gene': 'SIGLEC16', 'score': 577.92}, {'connected_gene': 'SIGLEC11', 'score': 29.23}, {'connected_gene': 'ENSG00000276729', 'score': 0.25}]
chr19	GH19I050022	50022549	50027093	2.12	[{'connected_gene': 'ZNF473', 'score': 577.77}, {'connected_gene': 'VRK3', 'score': 572.34}, {'connected_gene': 'POLD1', 'score': 65.05}, {'connected_gene': 'PTOV1-AS2', 'score': 57.75}, {'connected_gene': 'SNORD35A', 'score': 55.06}, {'connected_gene': 'NUP62', 'score': 54.93}, {'connected_gene': 'SNORD35B', 'score': 50.76}, {'connected_gene': 'ALDH16A1', 'score': 48.85}, {'connected_gene': 'PNKP', 'score': 47.63}, {'connected_gene': 'IRF3', 'score': 44.75}, {'connected_gene': 'SIGLEC16', 'score': 41.86}, {'connected_gene': 'PRR12', 'score': 34.89}, {'connected_gene': 'SNRNP70', 'score': 25.17}, {'connected_gene': 'RPS11', 'score': 23.03}, {'connected_gene': 'PIH1D1', 'score': 21.95}, {'connected_gene': 'RPL13A', 'score': 21.79}, {'connected_gene': 'ENSG00000268047', 'score': 15.68}, {'connected_gene': 'RPS9P4', 'score': 12.46}, {'connected_gene': 'SIGLEC11', 'score': 11.86}, {'connected_gene': 'ADM5', 'score': 11.25}, {'connected_gene': 'ENSG00000221125', 'score': 11.01}, {'connected_gene': 'FLT3LG', 'score': 10.41}, {'connected_gene': 'ENSG00000268157', 'score': 10.3}, {'connected_gene': 'PTOV1', 'score': 9.83}, {'connected_gene': 'ENSG00000276729', 'score': 0.44}]
chr19	GH19I050233	50233391	50235731	1.12	[{'connected_gene': 'SIGLEC11', 'score': 4.99}, {'connected_gene': 'ENSG00000276002', 'score': 0.34}, {'connected_gene': 'MYH14', 'score': 0.25}]
chr19	GH19I050239	50239953	50242277	0.74	[{'connected_gene': 'SIGLEC11', 'score': 4.99}, {'connected_gene': 'ENSG00000276002', 'score': 0.37}, {'connected_gene': 'MYH14', 'score': 0.23}]
chr19	GH19I049959	49959801	49961400	0.7	[{'connected_gene': 'SIGLEC11', 'score': 568.94}, {'connected_gene': 'SIGLEC16', 'score': 18.5}, {'connected_gene': 'ENSG00000269179', 'score': 0.77}]
chr19	GH19I050019	50019341	50022164	0.52	[{'connected_gene': 'ENSG00000276729', 'score': 550.77}, {'connected_gene': 'VRK3', 'score': 21.06}, {'connected_gene': 'SIGLEC16', 'score': 12.63}, {'connected_gene': 'SIGLEC11', 'score': 7.46}, {'connected_gene': 'ZNF473', 'score': 0.77}]
chr19	GH19I050050	50050375	50051693	1.42	[{'connected_gene': 'ENSG00000269091', 'score': 550.77}, {'connected_gene': 'LOC400710', 'score': 550.77}, {'connected_gene': 'VRK3', 'score': 20.93}, {'connected_gene': 'SIGLEC11', 'score': 11.25}, {'connected_gene': 'ZNF473', 'score': 0.31}]
chr19	GH19I049950	49950136	49959600	0.97	[{'connected_gene': 'PIR47203', 'score': 550.77}, {'connected_gene': 'SIGLEC11', 'score': 15.65}, {'connected_gene': 'VRK3', 'score': 8.48}, {'connected_gene': 'LOC400710', 'score': 8.37}, {'connected_gene': 'NUP62', 'score': 5.01}, {'connected_gene': 'PIR38035', 'score': 0.77}, {'connected_gene': 'ENSG00000269179', 'score': 0.77}]