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
ENST00000361483	[[111798454, 111801267], [111803367, 111803455], [111803916, 111804061], [111806715, 111806925]]	[[111800481, 111801267], [111803367, 111803370]]
ENST00000392658	[[111798454, 111801267], [111803916, 111804061], [111806715, 111806925]]	[[111800481, 111801231]]
ENST00000547710	[[111800880, 111801267], [111806715, 111806899]]	[[111800880, 111801231]]
ENST00000549321	[[111801007, 111801260], [111803928, 111804061], [111806715, 111806903]]	[[111801007, 111801231]]
ENST00000547838	[[111798483, 111801267], [111801491, 111801553]]	[[111800481, 111801231]]
ENST00000548163	[[111799018, 111801267], [111801448, 111801516]]	[[111800481, 111801231]]
ENST00000450786	[[111799018, 111801267], [111801448, 111801516]]	[[111800324, 111801173]]

Promoter

Chrom	Start	End	Description
chr12	111806785	111806803	CAGE_peak_4_at_FAM109A_5end
chr12	111806819	111806888	CAGE_peak_1_at_FAM109A_5end
chr12	111806892	111806909	CAGE_peak_2_at_FAM109A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I111577	111577609	111579361	1.11	[{'connected_gene': 'ADAM1A', 'score': 10.26}, {'connected_gene': 'FAM109A', 'score': 9.98}, {'connected_gene': 'ALDH2', 'score': 9.82}, {'connected_gene': 'LOC100101246', 'score': 0.77}, {'connected_gene': 'ENSG00000272215', 'score': 0.39}, {'connected_gene': 'ATXN2', 'score': 0.34}]
chr12	GH12I111331	111331277	111331426	0.6	[{'connected_gene': 'MAPKAPK5', 'score': 16.23}, {'connected_gene': 'NAA25', 'score': 13.25}, {'connected_gene': 'FAM109A', 'score': 4.2}, {'connected_gene': 'RNA5SP373', 'score': 0.44}, {'connected_gene': 'LOC105369983', 'score': 0.39}, {'connected_gene': 'GC12M111219', 'score': 0.28}, {'connected_gene': 'CUX2', 'score': 0.06}]
chr12	GH12I111353	111353957	111354266	0.43	[{'connected_gene': 'CUX2', 'score': 10.24}, {'connected_gene': 'RNA5SP373', 'score': 0.39}, {'connected_gene': 'FAM109A', 'score': 0.37}, {'connected_gene': 'GC12M111219', 'score': 0.37}]
chr12	GH12I111772	111772624	111778864	1.68	[{'connected_gene': 'ALDH2', 'score': 14.83}, {'connected_gene': 'BRAP', 'score': 10.85}, {'connected_gene': 'ACAD10', 'score': 10.85}, {'connected_gene': 'SH2B3', 'score': 7.12}, {'connected_gene': 'FAM109A', 'score': 1.3}, {'connected_gene': 'GC12P111792', 'score': 0.39}, {'connected_gene': 'ENSG00000257767', 'score': 0.34}]
chr12	GH12I111360	111360729	111362816	0.82	[{'connected_gene': 'FAM109A', 'score': 7.64}, {'connected_gene': 'ALDH2', 'score': 4.72}, {'connected_gene': 'GC12M111219', 'score': 0.44}, {'connected_gene': 'RNA5SP373', 'score': 0.34}]
chr12	GH12I111367	111367030	111370002	2.01	[{'connected_gene': 'FAM109A', 'score': 557.41}, {'connected_gene': 'LINC02356', 'score': 550.77}, {'connected_gene': 'GC12M111219', 'score': 550.77}, {'connected_gene': 'ADAM1A', 'score': 11.42}, {'connected_gene': 'TMEM116', 'score': 4.73}, {'connected_gene': 'RNA5SP373', 'score': 0.31}]
chr12	GH12I110760	110760256	110760405	0.81	[{'connected_gene': 'FAM109A', 'score': 8.91}, {'connected_gene': 'ENSG00000279925', 'score': 0.37}, {'connected_gene': 'PIR49180', 'score': 0.2}]
chr12	GH12I111424	111424214	111447914	2.2	[{'connected_gene': 'SH2B3', 'score': 581.21}, {'connected_gene': 'PIR45326', 'score': 550.77}, {'connected_gene': 'ADAM1A', 'score': 35.68}, {'connected_gene': 'PCNPP1', 'score': 16.63}, {'connected_gene': 'ATXN2', 'score': 15.37}, {'connected_gene': 'FAM109A', 'score': 11.34}, {'connected_gene': 'HECTD4', 'score': 10.17}, {'connected_gene': 'MAPKAPK5', 'score': 10.12}, {'connected_gene': 'ALDH2', 'score': 9.84}, {'connected_gene': 'TMEM116', 'score': 6.05}, {'connected_gene': 'BRAP', 'score': 1.54}, {'connected_gene': 'LOC105369985', 'score': 0.77}, {'connected_gene': 'PIR59500', 'score': 0.44}, {'connected_gene': 'PIR41006', 'score': 0.44}, {'connected_gene': 'PIR44345', 'score': 0.44}, {'connected_gene': 'PIR61304', 'score': 0.39}, {'connected_gene': 'GC12P111448', 'score': 0.39}, {'connected_gene': 'PIR45448', 'score': 0.39}]
chr12	GH12I111402	111402457	111415529	2.61	[{'connected_gene': 'SH2B3', 'score': 570.47}, {'connected_gene': 'ATXN2', 'score': 30.16}, {'connected_gene': 'ADAM1A', 'score': 19.28}, {'connected_gene': 'HECTD4', 'score': 18.42}, {'connected_gene': 'ARPC3', 'score': 12.87}, {'connected_gene': 'HSPA8P14', 'score': 10.82}, {'connected_gene': 'RPS2P41', 'score': 9.8}, {'connected_gene': 'ALDH2', 'score': 9.54}, {'connected_gene': 'TMEM116', 'score': 6.06}, {'connected_gene': 'FAM109A', 'score': 1.45}, {'connected_gene': 'PIR45326', 'score': 0.31}, {'connected_gene': 'LINC02356', 'score': 0.28}]
chr12	GH12I111569	111569393	111571390	0.83	[{'connected_gene': 'SH2B3', 'score': 12.72}, {'connected_gene': 'ATXN2', 'score': 12.31}, {'connected_gene': 'FAM109A', 'score': 10.43}, {'connected_gene': 'ALDH2', 'score': 9.86}, {'connected_gene': 'ADAM1A', 'score': 5.98}, {'connected_gene': 'ENSG00000272215', 'score': 0.44}, {'connected_gene': 'LOC100101246', 'score': 0.39}]
chr12	GH12I111458	111458261	111459536	0.2	[{'connected_gene': 'SH2B3', 'score': 12.95}, {'connected_gene': 'FAM109A', 'score': 11.71}, {'connected_gene': 'PIR36891', 'score': 0.44}, {'connected_gene': 'ENSG00000272215', 'score': 0.14}, {'connected_gene': 'ATXN2', 'score': 0.11}]
chr12	GH12I111461	111461467	111464094	0.79	[{'connected_gene': 'SH2B3', 'score': 25.71}, {'connected_gene': 'FAM109A', 'score': 11.7}, {'connected_gene': 'ALDH2', 'score': 9.84}, {'connected_gene': 'ADAM1A', 'score': 4.93}, {'connected_gene': 'PIR36891', 'score': 0.39}, {'connected_gene': 'ENSG00000272215', 'score': 0.15}, {'connected_gene': 'ATXN2', 'score': 0.12}]
chr12	GH12I111453	111453221	111456560	0.69	[{'connected_gene': 'SH2B3', 'score': 25.59}, {'connected_gene': 'FAM109A', 'score': 11.71}, {'connected_gene': 'ALDH2', 'score': 9.87}, {'connected_gene': 'PIR36891', 'score': 0.77}, {'connected_gene': 'ENSG00000272215', 'score': 0.14}, {'connected_gene': 'ATXN2', 'score': 0.11}]
chr12	GH12I111581	111581133	111581431	0.28	[{'connected_gene': 'LOC100101246', 'score': 550.77}, {'connected_gene': 'FAM109A', 'score': 9.98}, {'connected_gene': 'ENSG00000272215', 'score': 0.37}, {'connected_gene': 'ATXN2', 'score': 0.37}]
chr12	GH12I111448	111448241	111450742	0.49	[{'connected_gene': 'PIR39768', 'score': 550.77}, {'connected_gene': 'PIR31628', 'score': 550.77}, {'connected_gene': 'PIR36891', 'score': 550.77}, {'connected_gene': 'SH2B3', 'score': 25.51}, {'connected_gene': 'FAM109A', 'score': 11.31}, {'connected_gene': 'ALDH2', 'score': 8.33}]
chr12	GH12I111451	111451182	111452148	0.86	[{'connected_gene': 'PIR36891', 'score': 550.77}, {'connected_gene': 'SH2B3', 'score': 26.18}, {'connected_gene': 'FAM109A', 'score': 11.42}, {'connected_gene': 'ENSG00000272215', 'score': 0.14}]