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
ENST00000336148	[[95384187, 95384615], [95390407, 95390608], [95390795, 95390862], [95392372, 95392634], [95399211, 95399387], [95403836, 95404127], [95405970, 95406110], [95411641, 95411849], [95412465, 95412691], [95416304, 95416467], [95419666, 95419948], [95423348, 95423543], [95470495, 95470664], [95479632, 95479783], [95487228, 95487337]]	[[95384397, 95384615], [95390407, 95390608], [95390795, 95390862], [95392372, 95392634], [95399211, 95399387], [95403836, 95404127], [95405970, 95406110], [95411641, 95411849], [95412465, 95412691], [95416304, 95416467], [95419666, 95419948], [95423348, 95423543], [95470495, 95470664], [95479632, 95479767]]
ENST00000517506	[[95390604, 95390608], [95390795, 95390862], [95392372, 95392634], [95399211, 95399387], [95403836, 95404127], [95405970, 95406110], [95411641, 95411849], [95412465, 95412691], [95416304, 95416467], [95419666, 95419948], [95423348, 95423543], [95448722, 95449180]]	[[95423527, 95423543], [95448722, 95449096]]
ENST00000463267	[[95404034, 95404127], [95405970, 95406110], [95411641, 95411793], [95412465, 95412691], [95416304, 95416467], [95419666, 95419948], [95423348, 95423543], [95444838, 95444884], [95470495, 95470664], [95479632, 95479783], [95487228, 95487310]]	[[95423527, 95423543], [95444838, 95444884], [95470495, 95470664], [95479632, 95479767]]
ENST00000518998	[[95419749, 95419948], [95423348, 95423543], [95479632, 95479783], [95487228, 95487282]]	[[95423519, 95423543], [95479632, 95479767]]
ENST00000519348	[[95384188, 95384615], [95385239, 95385318]]	None
ENST00000518358	[[95392497, 95392634], [95399211, 95399657]]	None
ENST00000523192	[[95405650, 95406110], [95411641, 95411811]]	None
ENST00000523839	[[95423470, 95423543], [95470495, 95470664], [95479632, 95479783], [95480163, 95480242]]	[[95423470, 95423543], [95470495, 95470664], [95479632, 95479767]]
ENST00000297592	[[95443387, 95444884], [95470495, 95470664], [95479632, 95479783], [95487228, 95487290]]	[[95444834, 95444884], [95470495, 95470664], [95479632, 95479767]]
ENST00000481490	[[95444174, 95444884], [95448722, 95449170]]	[[95444358, 95444884], [95448722, 95449096]]
NM_001205263	[[95384187, 95384615], [95390407, 95390608], [95390795, 95390862], [95392372, 95392634], [95399211, 95399387], [95403836, 95404127], [95405970, 95406110], [95411641, 95411849], [95412465, 95412691], [95416304, 95416467], [95419666, 95419948], [95423348, 95423543], [95448722, 95449180]]	[[95384397, 95384615], [95390407, 95390608], [95390795, 95390862], [95392372, 95392634], [95399211, 95399387], [95403836, 95404127], [95405970, 95406110], [95411641, 95411849], [95412465, 95412691], [95416304, 95416467], [95419666, 95419895]]
NM_012415	[[95384187, 95384615], [95390407, 95390608], [95390795, 95390862], [95392372, 95392634], [95399211, 95399387], [95403836, 95404127], [95405970, 95406110], [95411641, 95411849], [95412465, 95412691], [95416304, 95416467], [95419666, 95419948], [95423348, 95423543], [95470495, 95470664], [95479632, 95479783], [95487228, 95487343]]	[[95384397, 95384615], [95390407, 95390608], [95390795, 95390862], [95392372, 95392634], [95399211, 95399387], [95403836, 95404127], [95405970, 95406110], [95411641, 95411849], [95412465, 95412691], [95416304, 95416467], [95419666, 95419948], [95423348, 95423543], [95470495, 95470664], [95479632, 95479767]]
NM_001205262	[[95439939, 95444884], [95470495, 95470664], [95479632, 95479783], [95487228, 95487343]]	[[95444834, 95444884], [95470495, 95470664], [95479632, 95479767]]

Promoter

Chrom	Start	End	Description
chr8	95412143	95412159	CAGE_peak_17_at_RAD54B_5end
chr8	95449155	95449188	CAGE_peak_2_at_RAD54B_5end
chr8	95487272	95487330	CAGE_peak_1_at_RAD54B_5end
chr8	95487331	95487359	CAGE_peak_3_at_RAD54B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I094286	94286480	94288346	0.2	[{'connected_gene': 'GEM', 'score': 11.49}, {'connected_gene': 'RAD54B', 'score': 9.48}, {'connected_gene': 'PIR43511', 'score': 0.34}, {'connected_gene': 'PIR32209', 'score': 0.21}]
chr8	GH08I094405	94405311	94406621	0.85	[{'connected_gene': 'VIRMA', 'score': 21.73}, {'connected_gene': 'INTS8', 'score': 15.16}, {'connected_gene': 'RBM12B', 'score': 10.79}, {'connected_gene': 'RAD54B', 'score': 10.51}, {'connected_gene': 'GC08P094395', 'score': 0.39}, {'connected_gene': 'ENSG00000280123', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.29}]
chr8	GH08I094521	94521727	94523565	0.75	[{'connected_gene': 'VIRMA', 'score': 11.41}, {'connected_gene': 'ENSG00000253704', 'score': 11.41}, {'connected_gene': 'RAD54B', 'score': 10.9}, {'connected_gene': 'ENSG00000254315', 'score': 0.39}]
chr8	GH08I094552	94552167	94555048	2.11	[{'connected_gene': 'VIRMA', 'score': 562.1}, {'connected_gene': 'GC08M094554', 'score': 550.77}, {'connected_gene': 'LOC101926977', 'score': 550.77}, {'connected_gene': 'ENSG00000253704', 'score': 550.77}, {'connected_gene': 'RAD54B', 'score': 10.72}]
chr8	GH08I094372	94372699	94373850	0.59	[{'connected_gene': 'VIRMA', 'score': 6.13}, {'connected_gene': 'RPS4XP10', 'score': 0.34}, {'connected_gene': 'GC08P094395', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.21}, {'connected_gene': 'RAD54B', 'score': 0.15}]
chr8	GH08I094474	94474071	94475850	2.04	[{'connected_gene': 'RAD54B', 'score': 550.77}, {'connected_gene': 'INTS8', 'score': 21.37}, {'connected_gene': 'VIRMA', 'score': 18.05}, {'connected_gene': 'RBM12B', 'score': 9.77}, {'connected_gene': 'GC08P094456', 'score': 0.37}]
chr8	GH08I094774	94774037	94774432	0.26	[{'connected_gene': 'RAD54B', 'score': 1.73}, {'connected_gene': 'VIRMA', 'score': 1.3}, {'connected_gene': 'ENSG00000254307', 'score': 0.37}, {'connected_gene': 'DPY19L4', 'score': 0.23}]
chr8	GH08I094419	94419634	94420692	0.43	[{'connected_gene': 'RAD54B', 'score': 10.74}, {'connected_gene': 'VIRMA', 'score': 6.41}, {'connected_gene': 'ENSG00000280123', 'score': 0.44}, {'connected_gene': 'FSBP', 'score': 0.37}, {'connected_gene': 'GC08P094395', 'score': 0.31}]
chr8	GH08I094407	94407366	94407757	0.31	[{'connected_gene': 'RAD54B', 'score': 10.51}, {'connected_gene': 'VIRMA', 'score': 6.03}, {'connected_gene': 'GC08P094395', 'score': 0.39}, {'connected_gene': 'ENSG00000280123', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.31}]
chr8	GH08I094467	94467438	94468934	1.13	[{'connected_gene': 'RAD54B', 'score': 550.44}, {'connected_gene': 'VIRMA', 'score': 6.27}, {'connected_gene': 'FSBP', 'score': 5.97}, {'connected_gene': 'GC08P094456', 'score': 0.39}]
chr8	GH08I094416	94416710	94418865	1.07	[{'connected_gene': 'RAD54B', 'score': 10.8}, {'connected_gene': 'VIRMA', 'score': 6.53}, {'connected_gene': 'ENSG00000280123', 'score': 0.39}, {'connected_gene': 'FSBP', 'score': 0.37}, {'connected_gene': 'GC08P094395', 'score': 0.34}]
chr8	GH08I094549	94549673	94549822	0.46	[{'connected_gene': 'RAD54B', 'score': 10.73}, {'connected_gene': 'VIRMA', 'score': 0.77}, {'connected_gene': 'ENSG00000254315', 'score': 0.37}]
chr8	GH08I094434	94434078	94439859	2.31	[{'connected_gene': 'RAD54B', 'score': 561.21}, {'connected_gene': 'GC08P094436', 'score': 550.77}, {'connected_gene': 'FSBP', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 6.37}, {'connected_gene': 'ENSG00000253704', 'score': 6.34}, {'connected_gene': 'GC08M094432', 'score': 0.77}]
chr8	GH08I094406	94406673	94406795	0.59	[{'connected_gene': 'RAD54B', 'score': 10.51}, {'connected_gene': 'GC08P094395', 'score': 0.39}, {'connected_gene': 'ENSG00000280123', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.29}]
chr8	GH08I093990	93990494	93992334	1.48	[{'connected_gene': 'RAD54B', 'score': 9.27}, {'connected_gene': 'ENSG00000275386', 'score': 0.37}, {'connected_gene': 'GC08M094039', 'score': 0.23}]
chr8	GH08I095010	95010737	95011237	0.31	[{'connected_gene': 'MIR3150BHG', 'score': 14.09}, {'connected_gene': 'ENSG00000253878', 'score': 12.02}, {'connected_gene': 'TP53INP1', 'score': 12.02}, {'connected_gene': 'CCNE2', 'score': 11.88}, {'connected_gene': 'NDUFAF6', 'score': 11.88}, {'connected_gene': 'RAD54B', 'score': 9.34}, {'connected_gene': 'GC08P094978', 'score': 0.29}, {'connected_gene': 'RNU6-1209P', 'score': 0.26}]
chr8	GH08I093986	93986401	93988042	0.69	[{'connected_gene': 'CDH17', 'score': 10.07}, {'connected_gene': 'RAD54B', 'score': 9.44}, {'connected_gene': 'ENSG00000275386', 'score': 0.39}, {'connected_gene': 'GC08M094039', 'score': 0.22}]
chr8	GH08I094077	94077400	94077685	0.25	[{'connected_gene': 'CDH17', 'score': 10.44}, {'connected_gene': 'RAD54B', 'score': 9.44}, {'connected_gene': 'ENSG00000253585', 'score': 0.31}, {'connected_gene': 'GC08M094039', 'score': 0.29}]
chr8	GH08I094071	94071855	94072902	0.49	[{'connected_gene': 'CDH17', 'score': 10.43}, {'connected_gene': 'RAD54B', 'score': 9.44}, {'connected_gene': 'GC08M094039', 'score': 0.31}, {'connected_gene': 'ENSG00000253585', 'score': 0.29}]
chr8	GH08I094446	94446933	94447811	0.52	[{'connected_gene': 'FSBP', 'score': 6.57}, {'connected_gene': 'GC08P094456', 'score': 0.44}, {'connected_gene': 'GC08M094432', 'score': 0.44}, {'connected_gene': 'RAD54B', 'score': 0.31}]
chr8	GH08I094528	94528773	94528942	0.82	[{'connected_gene': 'ENSG00000254315', 'score': 0.77}, {'connected_gene': 'VIRMA', 'score': 0.34}, {'connected_gene': 'RAD54B', 'score': 0.23}]
chr8	GH08I094512	94512463	94513279	0.2	[{'connected_gene': 'ENSG00000254315', 'score': 12.65}, {'connected_gene': 'VIRMA', 'score': 12.58}, {'connected_gene': 'RAD54B', 'score': 11.31}]
chr8	GH08I094455	94455726	94456593	0.52	[{'connected_gene': 'GC08P094456', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 4.96}, {'connected_gene': 'RAD54B', 'score': 0.37}]
chr8	GH08I094439	94439919	94441979	1.13	[{'connected_gene': 'GC08M094432', 'score': 550.77}, {'connected_gene': 'RAD54B', 'score': 11.23}, {'connected_gene': 'FSBP', 'score': 6.53}, {'connected_gene': 'GC08P094456', 'score': 0.39}]
chr8	GH08I094456	94455133	94455282	0.46	[{'connected_gene': 'GC08P094456', 'score': 550.77}, {'connected_gene': 'GC08M094432', 'score': 0.39}, {'connected_gene': 'RAD54B', 'score': 0.37}]
chr8	GH08I094448	94448164	94448440	0.74	[{'connected_gene': 'GC08P094456', 'score': 0.44}, {'connected_gene': 'GC08M094432', 'score': 0.44}, {'connected_gene': 'RAD54B', 'score': 0.31}]