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
ENST00000462137	[[50357457, 50357966], [50363787, 50363908], [50365384, 50365588]]	None
ENST00000232496	[[50362337, 50363617], [50363787, 50363908], [50365384, 50365674]]	[[50363551, 50363617], [50363787, 50363908], [50365384, 50365530]]
ENST00000454201	[[50363438, 50363617], [50363787, 50363908], [50364468, 50364650], [50365384, 50365637]]	[[50364598, 50364650], [50365384, 50365530]]
ENST00000421918	[[50363438, 50363617], [50363787, 50363908], [50364458, 50364650], [50365384, 50365682]]	[[50364598, 50364650], [50365384, 50365530]]
ENST00000463304	[[50363520, 50363617], [50363815, 50363908], [50365384, 50365669]]	None
ENST00000417867	[[50363786, 50363908], [50364458, 50364655], [50365384, 50365626]]	[[50364627, 50364655], [50365384, 50365530]]
NM_007275	[[50362339, 50363617], [50363787, 50363908], [50365384, 50365669]]	[[50363551, 50363617], [50363787, 50363908], [50365384, 50365530]]

Promoter

Chrom	Start	End	Description
chr3	50365569	50365570	CAGE_peak_3_at_TUSC2_5end
chr3	50365585	50365601	CAGE_peak_2_at_TUSC2_5end
chr3	50365607	50365676	CAGE_peak_1_at_TUSC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I050319	50319945	50325161	2.26	[{'connected_gene': 'HYAL2', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 50.38}, {'connected_gene': 'RBM5', 'score': 34.56}, {'connected_gene': 'AMT', 'score': 33.95}, {'connected_gene': 'SEMA3F-AS1', 'score': 25.23}, {'connected_gene': 'TMEM115', 'score': 24.59}, {'connected_gene': 'HYAL3', 'score': 20.46}, {'connected_gene': 'RHOA-IT1', 'score': 14.58}, {'connected_gene': 'RASSF1', 'score': 10.2}, {'connected_gene': 'HEMK1', 'score': 9.78}, {'connected_gene': 'HYAL1', 'score': 8.33}, {'connected_gene': 'CYB561D2', 'score': 6.55}, {'connected_gene': 'GC03M050319', 'score': 0.77}, {'connected_gene': 'GC03M050318', 'score': 0.77}, {'connected_gene': 'TUSC2', 'score': 0.44}]
chr3	GH03I050154	50154448	50173170	2.73	[{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3	GH03I049898	49898118	49907283	2.09	[{'connected_gene': 'MST1R', 'score': 559.86}, {'connected_gene': 'GC03P049904', 'score': 550.77}, {'connected_gene': 'ENSG00000228008', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 45.84}, {'connected_gene': 'GMPPB', 'score': 6.98}, {'connected_gene': 'IFRD2', 'score': 3.88}, {'connected_gene': 'SEMA3F', 'score': 3.25}, {'connected_gene': 'MON1A', 'score': 2.83}, {'connected_gene': 'APEH', 'score': 2.78}, {'connected_gene': 'TUSC2', 'score': 1.82}, {'connected_gene': 'FAM212A', 'score': 1.41}, {'connected_gene': 'ENSG00000230698', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.12}, {'connected_gene': 'GC03P049763', 'score': 0.12}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3	GH03I050227	50226600	50231400	2.73	[{'connected_gene': 'GNAI2', 'score': 556.1}, {'connected_gene': 'MIR5787', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 16.02}, {'connected_gene': 'RBM6', 'score': 15.06}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.66}, {'connected_gene': 'RBM5', 'score': 14.41}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.44}, {'connected_gene': 'SEMA3B', 'score': 12.44}, {'connected_gene': 'LSMEM2', 'score': 12.41}, {'connected_gene': 'TMEM115', 'score': 11.9}, {'connected_gene': 'IFRD2', 'score': 11.41}, {'connected_gene': 'RASSF1', 'score': 9.97}, {'connected_gene': 'HEMK1', 'score': 9.76}, {'connected_gene': 'CYB561D2', 'score': 5.94}, {'connected_gene': 'IP6K1', 'score': 5.2}, {'connected_gene': 'TUSC2', 'score': 1.28}, {'connected_gene': 'ENSG00000213600', 'score': 0.39}]
chr3	GH03I050327	50327044	50329029	2.17	[{'connected_gene': 'TUSC2', 'score': 550.77}, {'connected_gene': 'NAT6', 'score': 23.25}, {'connected_gene': 'HYAL3', 'score': 13.44}, {'connected_gene': 'HYAL1', 'score': 5.06}, {'connected_gene': 'MST1', 'score': 4.44}, {'connected_gene': 'HYAL2', 'score': 0.44}]