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
ENST00000341259	[[111843751, 111844081], [111855922, 111856681], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111889427]]	[[111855949, 111856681], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111886106]]
ENST00000550925	[[111856143, 111856681], [111882542, 111882652]]	[[111856143, 111856681], [111882542, 111882652]]
ENST00000538307	[[111872665, 111872831], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111887006]]	[[111872705, 111872831], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111886106]]
NM_005475	[[111843751, 111844081], [111855922, 111856681], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111889427]]	[[111855949, 111856681], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111886106]]
NM_001291424	[[111872665, 111872831], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111889427]]	[[111872705, 111872831], [111884556, 111884658], [111884745, 111884837], [111884928, 111885023], [111885133, 111885348], [111885459, 111885631], [111885786, 111886106]]

Promoter

Chrom	Start	End	Description
chr12	111843666	111843736	CAGE_peak_1_at_SH2B3_5end
chr12	111843749	111843763	CAGE_peak_3_at_SH2B3_5end
chr12	111843914	111843958	CAGE_peak_2_at_SH2B3_5end
chr12	111856160	111856178	CAGE_peak_18_at_SH2B3_5end
chr12	111887748	111887752	CAGE_peak_4_at_SH2B3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I111055	111055754	111058628	1.9	[{'connected_gene': 'ADAM1A', 'score': 24.24}, {'connected_gene': 'ATXN2', 'score': 14.12}, {'connected_gene': 'CUX2', 'score': 13.8}, {'connected_gene': 'MAPKAPK5', 'score': 12.01}, {'connected_gene': 'BRAP', 'score': 11.69}, {'connected_gene': 'ATXN2-AS', 'score': 11.68}, {'connected_gene': 'PCNPP1', 'score': 10.64}, {'connected_gene': 'IFT81', 'score': 10.23}, {'connected_gene': 'MYL2', 'score': 9.81}, {'connected_gene': 'LINC01405', 'score': 8.8}, {'connected_gene': 'PPTC7', 'score': 5.74}, {'connected_gene': 'SH2B3', 'score': 2.45}, {'connected_gene': 'GC12M111175', 'score': 0.13}]
chr12	GH12I111596	111596298	111601275	2.3	[{'connected_gene': 'ATXN2', 'score': 561.32}, {'connected_gene': 'ATXN2-AS', 'score': 550.77}, {'connected_gene': 'SH2B3', 'score': 12.28}, {'connected_gene': 'MAPKAPK5', 'score': 12.06}, {'connected_gene': 'ALDH2', 'score': 9.02}, {'connected_gene': 'TMEM116', 'score': 4.13}, {'connected_gene': 'LOC100101246', 'score': 0.37}]
chr12	GH12I111393	111393254	111394964	1.15	[{'connected_gene': 'ALDH2', 'score': 10.3}, {'connected_gene': 'ADAM1A', 'score': 7.2}, {'connected_gene': 'SH2B3', 'score': 0.39}, {'connected_gene': 'HSPA8P14', 'score': 0.39}, {'connected_gene': 'LINC02356', 'score': 0.34}]
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	GH12I111396	111396484	111400331	1.68	[{'connected_gene': 'ALDH2', 'score': 10.19}, {'connected_gene': 'SH2B3', 'score': 6.69}, {'connected_gene': 'ADAM1A', 'score': 6.38}, {'connected_gene': 'HSPA8P14', 'score': 0.37}, {'connected_gene': 'LINC02356', 'score': 0.31}]
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	GH12I111556	111556465	111558486	0.49	[{'connected_gene': 'SH2B3', 'score': 12.73}, {'connected_gene': 'ATXN2', 'score': 12.28}, {'connected_gene': 'ENSG00000272215', 'score': 0.44}, {'connected_gene': 'PIR36891', 'score': 0.14}]
chr12	GH12I111466	111466959	111471036	1.04	[{'connected_gene': 'SH2B3', 'score': 12.84}, {'connected_gene': 'ALDH2', 'score': 8.26}, {'connected_gene': 'ADAM1A', 'score': 6.31}, {'connected_gene': 'ATXN2', 'score': 2.45}, {'connected_gene': 'PIR36891', 'score': 0.37}, {'connected_gene': 'ENSG00000272215', 'score': 0.15}]
chr12	GH12I111419	111419424	111421403	0.38	[{'connected_gene': 'SH2B3', 'score': 12.31}, {'connected_gene': 'ALDH2', 'score': 8.86}, {'connected_gene': 'PIR45326', '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	GH12I111421	111421515	111422946	0.46	[{'connected_gene': 'SH2B3', 'score': 11.46}, {'connected_gene': 'PIR45326', 'score': 0.39}]
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}]