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
ENST00000439590	[[72199720, 72199849], [72200056, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72206019]]	[[72200094, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72205968]]
ENST00000311111	[[72199791, 72199884], [72200056, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72206794]]	[[72200094, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72205968]]
ENST00000530646	[[72199800, 72199884], [72200056, 72202422]]	None
ENST00000529123	[[72199813, 72199884], [72200056, 72200097], [72200268, 72200732]]	None
ENST00000584577	[[72199831, 72199884], [72200056, 72200097], [72200268, 72200329], [72205325, 72205448], [72205951, 72206017]]	[[72200094, 72200097], [72200268, 72200329], [72205325, 72205448], [72205951, 72205968]]
ENST00000534490	[[72199832, 72199884], [72200056, 72200097], [72200268, 72200329], [72205325, 72205600]]	[[72200094, 72200097], [72200268, 72200329], [72205325, 72205456]]
ENST00000528433	[[72199842, 72199909], [72200056, 72200097], [72200268, 72200329]]	[[72200094, 72200097], [72200268, 72200329]]
ENST00000533498	[[72199842, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72206035]]	[[72200094, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72205968]]
NM_001035258	[[72199794, 72199849], [72200056, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72206019]]	[[72200094, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72205968]]
NM_000999	[[72199794, 72199884], [72200056, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72206019]]	[[72200094, 72200097], [72200268, 72200329], [72205325, 72205448], [72205942, 72205968]]

Promoter

Chrom	Start	End	Description
chr17	72199808	72199837	CAGE_peak_1_at_RPL38_5end
chr17	72200038	72200068	CAGE_peak_2_at_RPL38_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I074238	74237838	74238405	0.31	[{'connected_gene': 'TTYH2', 'score': 17.55}, {'connected_gene': 'DNAI2', 'score': 12.27}, {'connected_gene': 'MGC16275', 'score': 12.03}, {'connected_gene': 'RPL38', 'score': 11.98}, {'connected_gene': 'CD300E', 'score': 9.35}, {'connected_gene': 'ENSG00000264272', 'score': 0.34}]
chr17	GH17I074237	74237158	74237705	0.2	[{'connected_gene': 'TTYH2', 'score': 18.34}, {'connected_gene': 'DNAI2', 'score': 12.27}, {'connected_gene': 'MGC16275', 'score': 12.03}, {'connected_gene': 'RPL38', 'score': 11.98}, {'connected_gene': 'CD300E', 'score': 9.35}, {'connected_gene': 'ENSG00000264272', 'score': 0.34}]
chr17	GH17I074234	74234182	74236572	1	[{'connected_gene': 'TTYH2', 'score': 18.78}, {'connected_gene': 'DNAI2', 'score': 18.17}, {'connected_gene': 'MGC16275', 'score': 12.03}, {'connected_gene': 'RPL38', 'score': 11.98}, {'connected_gene': 'CD300A', 'score': 10.16}, {'connected_gene': 'CD300E', 'score': 9.35}, {'connected_gene': 'ENSG00000264272', 'score': 0.31}]
chr17	GH17I074245	74245042	74246499	0.72	[{'connected_gene': 'TTYH2', 'score': 19.24}, {'connected_gene': 'DNAI2', 'score': 12.71}, {'connected_gene': 'MGC16275', 'score': 11.65}, {'connected_gene': 'RPL38', 'score': 11.62}, {'connected_gene': 'ENSG00000264272', 'score': 0.37}]
chr17	GH17I074295	74295640	74297138	1.39	[{'connected_gene': 'TTYH2', 'score': 17.03}, {'connected_gene': 'DNAI2', 'score': 14.61}, {'connected_gene': 'HID1-AS1', 'score': 12.91}, {'connected_gene': 'NAT9', 'score': 12.41}, {'connected_gene': 'MGC16275', 'score': 12.0}, {'connected_gene': 'RPL38', 'score': 11.98}, {'connected_gene': 'GGA3', 'score': 4.42}, {'connected_gene': 'RAB37', 'score': 2.31}, {'connected_gene': 'ENSG00000266106', 'score': 0.39}]
chr17	GH17I074209	74209683	74216189	2.22	[{'connected_gene': 'MGC16275', 'score': 550.77}, {'connected_gene': 'TTYH2', 'score': 550.77}, {'connected_gene': 'NT5C', 'score': 28.89}, {'connected_gene': 'NUP85', 'score': 27.2}, {'connected_gene': 'C17orf80', 'score': 11.86}, {'connected_gene': 'NAT9', 'score': 9.83}, {'connected_gene': 'FAM104A', 'score': 5.15}, {'connected_gene': 'RPL38', 'score': 0.44}, {'connected_gene': 'GC17P074206', 'score': 0.44}]
chr17	GH17I074248	74248959	74251350	0.8	[{'connected_gene': 'NUP85', 'score': 24.83}, {'connected_gene': 'NAT9', 'score': 19.31}, {'connected_gene': 'TTYH2', 'score': 18.47}, {'connected_gene': 'NT5C', 'score': 17.36}, {'connected_gene': 'DNAI2', 'score': 17.23}, {'connected_gene': 'RN7SL573P', 'score': 12.46}, {'connected_gene': 'MGC16275', 'score': 11.63}, {'connected_gene': 'RPL38', 'score': 11.6}, {'connected_gene': 'CDC42EP4', 'score': 10.01}, {'connected_gene': 'ENSG00000264272', 'score': 0.39}]
chr17	GH17I074247	74247175	74248664	0.2	[{'connected_gene': 'DNAI2', 'score': 20.14}, {'connected_gene': 'TTYH2', 'score': 11.65}, {'connected_gene': 'MGC16275', 'score': 11.65}, {'connected_gene': 'RPL38', 'score': 11.62}, {'connected_gene': 'ENSG00000264272', 'score': 0.39}]
chr17	GH17I074231	74231452	74232551	0.4	[{'connected_gene': 'DNAI2', 'score': 12.06}, {'connected_gene': 'RPL38', 'score': 11.97}, {'connected_gene': 'TTYH2', 'score': 10.36}, {'connected_gene': 'CD300A', 'score': 10.16}, {'connected_gene': 'ENSG00000264272', 'score': 0.29}]
chr17	GH17I074203	74203022	74207279	2.33	[{'connected_gene': 'RPL38', 'score': 550.77}, {'connected_gene': 'GC17P074206', 'score': 550.77}, {'connected_gene': 'NAT9', 'score': 40.81}, {'connected_gene': 'NT5C', 'score': 38.84}, {'connected_gene': 'RN7SL573P', 'score': 23.18}, {'connected_gene': 'KCTD2', 'score': 10.56}, {'connected_gene': 'SUMO2', 'score': 10.36}]
chr17	GH17I074199	74199356	74200089	0.94	[{'connected_gene': 'RPL38', 'score': 0.77}, {'connected_gene': 'LINC02074', 'score': 0.25}]
chr17	GH17I074201	74201302	74201471	0.52	[{'connected_gene': 'RPL38', 'score': 0.77}, {'connected_gene': 'LINC02074', 'score': 0.25}]
chr17	GH17I074194	74194541	74194650	0.24	[{'connected_gene': 'RPL38', 'score': 0.44}, {'connected_gene': 'LINC02074', 'score': 0.26}]
chr17	GH17I074336	74336246	74346305	0.75	[{'connected_gene': 'GPR142', 'score': 17.55}, {'connected_gene': 'CD300LB', 'score': 11.12}, {'connected_gene': 'CD300C', 'score': 11.12}, {'connected_gene': 'ENSG00000236770', 'score': 11.11}, {'connected_gene': 'CD300A', 'score': 10.95}, {'connected_gene': 'MGC16275', 'score': 10.62}, {'connected_gene': 'TTYH2', 'score': 10.62}, {'connected_gene': 'RPL38', 'score': 10.62}, {'connected_gene': 'MRPL58', 'score': 5.11}, {'connected_gene': 'KIF19', 'score': 0.37}, {'connected_gene': 'BTBD17', 'score': 0.34}]
chr17	GH17I074298	74298046	74298183	0.37	[{'connected_gene': 'CD300E', 'score': 32.66}, {'connected_gene': 'TTYH2', 'score': 14.14}, {'connected_gene': 'MGC16275', 'score': 11.51}, {'connected_gene': 'RPL38', 'score': 11.49}, {'connected_gene': 'DNAI2', 'score': 10.31}, {'connected_gene': 'CD300C', 'score': 7.05}, {'connected_gene': 'CD300LB', 'score': 4.94}, {'connected_gene': 'TMEM104', 'score': 3.11}, {'connected_gene': 'CD300LF', 'score': 2.79}, {'connected_gene': 'CD300A', 'score': 1.56}, {'connected_gene': 'ENSG00000266106', 'score': 0.39}]
chr17	GH17I074239	74239013	74242265	1.25	[{'connected_gene': 'CD300E', 'score': 30.64}, {'connected_gene': 'DNAI2', 'score': 21.77}, {'connected_gene': 'TTYH2', 'score': 20.69}, {'connected_gene': 'CD300C', 'score': 17.01}, {'connected_gene': 'CD300LB', 'score': 12.94}, {'connected_gene': 'MGC16275', 'score': 12.0}, {'connected_gene': 'RPL38', 'score': 11.97}, {'connected_gene': 'CD300LF', 'score': 9.17}, {'connected_gene': 'CD300A', 'score': 5.36}, {'connected_gene': 'CD300LD', 'score': 3.15}, {'connected_gene': 'ENSG00000264272', 'score': 0.34}]
chr17	GH17I074192	74192819	74194203	1.3	[{'connected_gene': 'KIF19', 'score': 1.91}, {'connected_gene': 'RPL38', 'score': 0.39}, {'connected_gene': 'LINC02074', 'score': 0.28}]
chr17	GH17I074207	74207362	74207608	0.43	[{'connected_gene': 'GC17P074206', 'score': 550.77}, {'connected_gene': 'RPL38', 'score': 0.77}, {'connected_gene': 'MGC16275', 'score': 0.44}]