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
ENST00000427428	[[50242678, 50242781], [50244768, 50244910], [50251581, 50251733], [50251834, 50251915], [50252084, 50252189]]	None
ENST00000420502	[[50242678, 50242781], [50251581, 50251733], [50251834, 50251915], [50252084, 50252200], [50252817, 50252891], [50252975, 50253068], [50253171, 50253253], [50254669, 50254752], [50254846, 50254905], [50255107, 50255272], [50255348, 50255428], [50255701, 50255802], [50256024, 50256149], [50256235, 50256380], [50257312, 50257416], [50257504, 50258411]]	None
ENST00000541861	[[50242691, 50242781], [50251581, 50251734], [50251834, 50251915], [50252084, 50252200], [50252817, 50252891], [50252975, 50253068], [50253171, 50253253], [50254669, 50254752], [50254846, 50254905], [50255107, 50255272], [50255348, 50255428], [50255701, 50255802], [50256024, 50256149], [50256235, 50256380], [50257312, 50257416], [50257504, 50258400]]	None
ENST00000414604	[[50242700, 50242781], [50251581, 50251733], [50251834, 50251915], [50252084, 50252200], [50252975, 50253068], [50253171, 50253253], [50254669, 50254752], [50254846, 50254905], [50255107, 50255272], [50255348, 50255427]]	None
ENST00000456338	[[50242711, 50242781], [50251581, 50251733], [50251834, 50251915], [50252084, 50252346]]	None
ENST00000445096	[[50242718, 50242781], [50252817, 50252891], [50252975, 50253068], [50253171, 50253253], [50254669, 50254752], [50254846, 50254905], [50255107, 50255272], [50255348, 50255428], [50255701, 50255802], [50256024, 50256104]]	None
ENST00000445325	[[50245115, 50245400], [50251581, 50251733], [50251834, 50251915], [50252084, 50252201]]	None
ENST00000439524	[[50252698, 50252891], [50252975, 50253068], [50253171, 50253253], [50254669, 50254725]]	None
ENST00000417851	[[50255167, 50255428], [50255701, 50255802], [50256024, 50256100]]	None
ENST00000417121	[[50255345, 50255428], [50255701, 50256112]]	None
NM_006841	[[50242678, 50242781], [50251581, 50251733], [50251833, 50251915], [50252084, 50252200], [50252817, 50252891], [50252975, 50253068], [50253171, 50253253], [50254669, 50254752], [50254846, 50254905], [50255107, 50255272], [50255348, 50255428], [50255701, 50255802], [50256024, 50256149], [50256235, 50256380], [50257312, 50257416], [50257504, 50258411]]	[[50251632, 50251733], [50251833, 50251915], [50252084, 50252200], [50252817, 50252891], [50252975, 50253068], [50253171, 50253253], [50254669, 50254752], [50254846, 50254905], [50255107, 50255272], [50255348, 50255428], [50255701, 50255802], [50256024, 50256149], [50256235, 50256380], [50257312, 50257416], [50257504, 50257609]]

Promoter

Chrom	Start	End	Description
chr3	50242680	50242716	CAGE_peak_1_at_SLC38A3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I050192	50192274	50196569	1.21	[{'connected_gene': 'HYAL3', 'score': 21.62}, {'connected_gene': 'RBM6', 'score': 20.73}, {'connected_gene': 'GNAI2', 'score': 13.03}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.11}, {'connected_gene': 'SEMA3F', 'score': 12.11}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.06}, {'connected_gene': 'SEMA3B', 'score': 12.06}, {'connected_gene': 'LSMEM2', 'score': 12.05}, {'connected_gene': 'HYAL1', 'score': 11.69}, {'connected_gene': 'IFRD2', 'score': 11.21}, {'connected_gene': 'RBM5', 'score': 10.65}, {'connected_gene': 'IP6K1', 'score': 9.88}, {'connected_gene': 'PHF5EP', 'score': 9.88}, {'connected_gene': 'MON1A', 'score': 9.45}, {'connected_gene': 'GNAT1', 'score': 0.77}, {'connected_gene': 'SLC38A3', 'score': 0.39}]
chr3	GH03I050208	50208877	50209177	1.09	[{'connected_gene': 'HYAL1', 'score': 2.76}, {'connected_gene': 'SEMA3B', 'score': 1.45}, {'connected_gene': 'SLC38A3', 'score': 0.77}, {'connected_gene': 'GNAI2', 'score': 0.37}]
chr8	GH08I018036	18036258	18036649	0.33	[{'connected_gene': 'PCM1', 'score': 11.4}, {'connected_gene': 'ASAH1', 'score': 4.89}, {'connected_gene': 'NAT1', 'score': 2.25}, {'connected_gene': 'LOC101929066', 'score': 0.25}]
chr3	GH03I050226	50226149	50226358	1.62	[{'connected_gene': 'GNAI2', 'score': 550.77}, {'connected_gene': 'MIR5787', 'score': 550.77}, {'connected_gene': 'SLC38A3', 'score': 0.34}]
chr3	GH03I050212	50212494	50213375	0.63	[{'connected_gene': 'AMT', 'score': 7.88}, {'connected_gene': 'MST1', 'score': 4.64}, {'connected_gene': 'SLC38A3', 'score': 0.44}, {'connected_gene': 'GNAI2', 'score': 0.39}]
chr8	GH08I017911	17911062	17912081	0.93	[{'connected_gene': 'FGL1', 'score': 550.77}, {'connected_gene': 'ENSG00000253671', 'score': 15.2}, {'connected_gene': 'ASAH1', 'score': 10.4}, {'connected_gene': 'NAT1', 'score': 1.79}, {'connected_gene': 'PCM1', 'score': 0.39}, {'connected_gene': 'GC08P017880', 'score': 0.29}]
chr3	GH03I050221	50221505	50222324	0.94	[{'connected_gene': 'CYB561D2', 'score': 11.32}, {'connected_gene': 'MST1', 'score': 5.18}, {'connected_gene': 'GNAI2', 'score': 0.77}, {'connected_gene': 'SLC38A3', 'score': 0.37}]
chr3	GH03I050219	50219870	50221060	0.38	[{'connected_gene': 'CYB561D2', 'score': 6.14}, {'connected_gene': 'GNAI2', 'score': 0.44}, {'connected_gene': 'SLC38A3', 'score': 0.37}]
chr3	GH03I050207	50207426	50208433	0.46	[{'connected_gene': 'SLC38A3', 'score': 0.77}, {'connected_gene': 'GNAI2', 'score': 0.37}]
chr3	GH03I050201	50201679	50206501	2.06	[{'connected_gene': 'SLC38A3', 'score': 557.57}, {'connected_gene': 'RBM6', 'score': 15.59}, {'connected_gene': 'GNAI2', 'score': 13.11}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.15}, {'connected_gene': 'SEMA3B', 'score': 12.15}, {'connected_gene': 'LSMEM2', 'score': 12.13}, {'connected_gene': 'CYB561D2', 'score': 11.97}, {'connected_gene': 'HYAL3', 'score': 11.95}, {'connected_gene': 'SEMA3F', 'score': 11.71}, {'connected_gene': 'SEMA3F-AS1', 'score': 11.4}, {'connected_gene': 'RBM5', 'score': 10.47}, {'connected_gene': 'HYAL1', 'score': 5.96}, {'connected_gene': 'MST1', 'score': 4.75}, {'connected_gene': 'MAPKAPK3', 'score': 4.08}, {'connected_gene': 'GNAT1', 'score': 0.39}]
chr8	GH08I018196	18196816	18197669	0.92	[{'connected_gene': 'MTND4LP26', 'score': 0.77}, {'connected_gene': 'GC08P018170', 'score': 0.31}, {'connected_gene': 'NAT1', 'score': 0.31}, {'connected_gene': 'GC08P018171', 'score': 0.31}]
chr3	GH03I050210	50210052	50211578	1.1	[{'connected_gene': 'RBM6', 'score': 15.96}, {'connected_gene': 'DOCK3', 'score': 4.85}, {'connected_gene': 'SLC38A3', 'score': 0.44}, {'connected_gene': 'GNAI2', 'score': 0.37}]
chr8	GH08I018031	18031132	18031284	0.46	[{'connected_gene': 'ENSG00000253671', 'score': 12.26}, {'connected_gene': 'ASAH1', 'score': 11.33}, {'connected_gene': 'NAT1', 'score': 3.41}, {'connected_gene': 'LOC101929066', 'score': 0.23}, {'connected_gene': 'PCM1', 'score': 0.14}]
chr8	GH08I017732	17732624	17739130	1.46	[{'connected_gene': 'ENSG00000253215', 'score': 11.33}, {'connected_gene': 'FGL1', 'score': 11.31}, {'connected_gene': 'NAT1', 'score': 2.13}, {'connected_gene': 'GC08P017749', 'score': 0.39}, {'connected_gene': 'GC08P017724', 'score': 0.39}, {'connected_gene': 'MTUS1', 'score': 0.2}]
chr8	GH08I018665	18665586	18667598	1.29	[{'connected_gene': 'GC08M018601', 'score': 550.77}, {'connected_gene': 'NAT1', 'score': 2.36}, {'connected_gene': 'NAT2', 'score': 1.68}, {'connected_gene': 'GC08M018701', 'score': 0.28}, {'connected_gene': 'PSD3', 'score': 0.05}]
chr8	GH08I018170	18170328	18171255	0.65	[{'connected_gene': 'GC08P018170', 'score': 550.77}, {'connected_gene': 'NAT1', 'score': 550.77}, {'connected_gene': 'GC08P018171', 'score': 550.77}, {'connected_gene': 'MTND4LP26', 'score': 0.29}]
chr8	GH08I018209	18209472	18210868	1.94	[{'connected_gene': 'GC08P018213', 'score': 550.77}, {'connected_gene': 'GC08P018217', 'score': 550.77}, {'connected_gene': 'GC08P018214', 'score': 550.77}, {'connected_gene': 'GC08P018211', 'score': 550.77}, {'connected_gene': 'NAT1', 'score': 550.28}]