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
ENST00000263736	[[45615818, 45616738], [45620083, 45620268], [45640252, 45640432], [45645503, 45645680], [45646926, 45647033], [45704131, 45704214], [45715378, 45715470], [45773870, 45773978], [45774660, 45774751], [45778263, 45778421], [45780761, 45780869], [45789791, 45789895], [45800345, 45800481], [45801765, 45801862], [45807013, 45807152], [45808831, 45808949], [45812746, 45812913], [45826587, 45826974], [45829041, 45829222], [45832500, 45832580], [45838357, 45838420]]	[[45616448, 45616738], [45620083, 45620268], [45640252, 45640432], [45645503, 45645680], [45646926, 45647033], [45704131, 45704214], [45715378, 45715470], [45773870, 45773978], [45774660, 45774751], [45778263, 45778421], [45780761, 45780869], [45789791, 45789895], [45800345, 45800481], [45801765, 45801862], [45807013, 45807152], [45808831, 45808949], [45812746, 45812913], [45826587, 45826974], [45829041, 45829222], [45832500, 45832580]]
ENST00000535761	[[45616231, 45616738], [45620083, 45620268], [45640252, 45640432], [45645503, 45645680], [45646926, 45647033], [45704131, 45704214], [45715378, 45715470], [45773870, 45773978], [45774660, 45774751], [45778263, 45778421], [45780761, 45780869], [45789791, 45789895], [45795074, 45795154]]	[[45616448, 45616738], [45620083, 45620268], [45640252, 45640432], [45645503, 45645680], [45646926, 45647033], [45704131, 45704214], [45715378, 45715470], [45773870, 45773978], [45774660, 45774751], [45778263, 45778421], [45780761, 45780835]]
ENST00000475073	[[45645593, 45645680], [45646926, 45647033], [45715378, 45715470], [45773870, 45773978], [45774660, 45774751], [45776129, 45776211]]	None
ENST00000490133	[[45615914, 45616738], [45620083, 45620268], [45640252, 45640432], [45645503, 45645680], [45646926, 45647033], [45674288, 45675234]]	None
ENST00000493649	[[45773870, 45773978], [45774660, 45774751], [45778263, 45778421], [45780761, 45780869], [45789791, 45789895], [45795074, 45795160]]	None
ENST00000461805	[[45829060, 45829222], [45832500, 45832580], [45838357, 45838574], [45839208, 45839304]]	None
NM_018079	[[45615818, 45616738], [45620083, 45620268], [45640252, 45640432], [45645503, 45645680], [45646926, 45647033], [45704131, 45704214], [45715378, 45715470], [45773870, 45773978], [45774660, 45774751], [45778263, 45778421], [45780761, 45780869], [45789791, 45789895], [45800345, 45800481], [45801765, 45801862], [45807013, 45807152], [45808831, 45808949], [45812746, 45812913], [45826587, 45826974], [45829041, 45829222], [45832500, 45832580], [45838357, 45838433]]	[[45616448, 45616738], [45620083, 45620268], [45640252, 45640432], [45645503, 45645680], [45646926, 45647033], [45704131, 45704214], [45715378, 45715470], [45773870, 45773978], [45774660, 45774751], [45778263, 45778421], [45780761, 45780869], [45789791, 45789895], [45800345, 45800481], [45801765, 45801862], [45807013, 45807152], [45808831, 45808949], [45812746, 45812913], [45826587, 45826974], [45829041, 45829222], [45832500, 45832580]]

Promoter

Chrom	Start	End	Description
chr2	45795104	45795144	CAGE_peak_2_at_SRBD1_5end
chr2	45795145	45795174	CAGE_peak_3_at_SRBD1_5end
chr2	45838374	45838418	CAGE_peak_1_at_SRBD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I045626	45626722	45626871	0.65	[{'connected_gene': 'PRKCE', 'score': 10.99}, {'connected_gene': 'LOC105374580', 'score': 10.38}, {'connected_gene': 'SRBD1', 'score': 0.39}, {'connected_gene': 'GC02P045648', 'score': 0.34}]
chr2	GH02I045609	45609817	45613089	2.04	[{'connected_gene': 'SRBD1', 'score': 565.76}, {'connected_gene': 'PRKCE', 'score': 10.46}, {'connected_gene': 'RN7SL414P', 'score': 0.26}]
chr2	GH02I045469	45469324	45471166	1.08	[{'connected_gene': 'SRBD1', 'score': 11.71}, {'connected_gene': 'SIX2', 'score': 10.95}, {'connected_gene': 'GC02P045456', 'score': 0.39}, {'connected_gene': 'RN7SL414P', 'score': 0.15}]
chr2	GH02I045595	45595346	45597108	0.58	[{'connected_gene': 'SRBD1', 'score': 6.29}, {'connected_gene': 'RN7SL414P', 'score': 0.31}]
chr2	GH02I045458	45458420	45459954	0.85	[{'connected_gene': 'SRBD1', 'score': 11.06}, {'connected_gene': 'GC02P045456', 'score': 0.77}, {'connected_gene': 'RN7SL414P', 'score': 0.14}]
chr2	GH02I045553	45553722	45555181	0.43	[{'connected_gene': 'SRBD1', 'score': 22.49}, {'connected_gene': 'RN7SL414P', 'score': 0.37}, {'connected_gene': 'GC02P045456', 'score': 0.15}]
chr2	GH02I045607	45607660	45607984	0.83	[{'connected_gene': 'SRBD1', 'score': 16.02}, {'connected_gene': 'RN7SL414P', 'score': 0.28}]
chr2	GH02I045352	45352985	45355364	0.77	[{'connected_gene': 'SRBD1', 'score': 5.18}, {'connected_gene': 'LOC105374577', 'score': 0.29}, {'connected_gene': 'GC02P045452', 'score': 0.15}]
chr2	GH02I045433	45433392	45436835	0.57	[{'connected_gene': 'SRBD1', 'score': 6.61}, {'connected_gene': 'GC02P045452', 'score': 0.37}, {'connected_gene': 'LOC105374577', 'score': 0.14}]
chr2	GH02I045412	45412322	45413988	0.79	[{'connected_gene': 'SRBD1', 'score': 4.53}, {'connected_gene': 'GC02P045452', 'score': 0.28}, {'connected_gene': 'LOC105374577', 'score': 0.17}]
chr2	GH02I045444	45444173	45446068	0.2	[{'connected_gene': 'SRBD1', 'score': 11.43}, {'connected_gene': 'GC02P045452', 'score': 0.44}, {'connected_gene': 'LOC105374577', 'score': 0.13}]
chr2	GH02I045390	45390181	45391878	0.31	[{'connected_gene': 'SRBD1', 'score': 8.58}, {'connected_gene': 'GC02P045452', 'score': 0.21}, {'connected_gene': 'LOC105374577', 'score': 0.2}]
chr2	GH02I044951	44951599	44953431	0.69	[{'connected_gene': 'SRBD1', 'score': 9.84}, {'connected_gene': 'ENSG00000225156', 'score': 0.77}, {'connected_gene': 'SIX3-AS1', 'score': 0.39}, {'connected_gene': 'SIX3', 'score': 0.39}]
chr2	GH02I046296	46296075	46312327	2.49	[{'connected_gene': 'EPAS1', 'score': 550.39}, {'connected_gene': 'ENSG00000225187', 'score': 19.29}, {'connected_gene': 'SRBD1', 'score': 13.81}, {'connected_gene': 'ENSG00000233845', 'score': 10.24}, {'connected_gene': 'TTC7A', 'score': 10.0}, {'connected_gene': 'LOC105374583', 'score': 0.29}, {'connected_gene': 'GC02M046254', 'score': 0.12}]
chr2	GH02I045006	45006760	45011199	2.38	[{'connected_gene': 'SIX2', 'score': 559.44}, {'connected_gene': 'SRBD1', 'score': 9.84}, {'connected_gene': 'ENSG00000231156', 'score': 7.3}, {'connected_gene': 'LOC730043', 'score': 0.39}, {'connected_gene': 'GC02P044973', 'score': 0.28}]
chr2	GH02I045585	45585271	45585800	0.54	[{'connected_gene': 'RN7SL414P', 'score': 0.37}, {'connected_gene': 'SRBD1', 'score': 0.31}]
chr2	GH02I045584	45584044	45584234	0.23	[{'connected_gene': 'RN7SL414P', 'score': 0.39}, {'connected_gene': 'SRBD1', 'score': 0.31}]
chr2	GH02I045567	45567147	45570081	1.33	[{'connected_gene': 'RN7SL414P', 'score': 550.77}, {'connected_gene': 'SRBD1', 'score': 6.38}, {'connected_gene': 'GC02P045456', 'score': 0.14}]
chr2	GH02I045642	45642876	45644466	1.08	[{'connected_gene': 'LOC105374580', 'score': 10.71}, {'connected_gene': 'GC02P045648', 'score': 0.44}, {'connected_gene': 'SRBD1', 'score': 0.29}]
chr2	GH02I046406	46406726	46412339	1.45	[{'connected_gene': 'ENSG00000228925', 'score': 16.04}, {'connected_gene': 'ENSG00000225187', 'score': 12.02}, {'connected_gene': 'SRBD1', 'score': 9.84}, {'connected_gene': 'MCFD2', 'score': 5.11}, {'connected_gene': 'LINC01820', 'score': 0.37}, {'connected_gene': 'LOC101805491', 'score': 0.37}, {'connected_gene': 'GC02M046254', 'score': 0.31}]
chr2	GH02I045456	45456687	45456944	0.4	[{'connected_gene': 'GC02P045456', 'score': 550.77}, {'connected_gene': 'SRBD1', 'score': 5.14}, {'connected_gene': 'RN7SL414P', 'score': 0.14}]
chr2	GH02I045452	45452537	45453711	0.6	[{'connected_gene': 'GC02P045452', 'score': 550.77}, {'connected_gene': 'SRBD1', 'score': 5.98}, {'connected_gene': 'GC02P045456', 'score': 0.77}]
chr2	GH02I046323	46323052	46338417	1.69	[{'connected_gene': 'ENSG00000228925', 'score': 16.02}, {'connected_gene': 'EPAS1', 'score': 12.47}, {'connected_gene': 'ENSG00000225187', 'score': 12.02}, {'connected_gene': 'ENSG00000232696', 'score': 10.68}, {'connected_gene': 'ENSG00000231336', 'score': 10.52}, {'connected_gene': 'SRBD1', 'score': 9.83}, {'connected_gene': 'MCFD2', 'score': 5.41}, {'connected_gene': 'SOCS5', 'score': 1.94}, {'connected_gene': 'LOC105374583', 'score': 0.44}, {'connected_gene': 'GC02M046254', 'score': 0.14}]
chr2	GH02I045466	45466262	45466411	0.38	[{'connected_gene': 'GC02P045456', 'score': 0.44}, {'connected_gene': 'RN7SL414P', 'score': 0.15}, {'connected_gene': 'SRBD1', 'score': 0.11}]
chr2	GH02I045494	45494601	45494800	0.6	[{'connected_gene': 'GC02P045456', 'score': 0.28}, {'connected_gene': 'RN7SL414P', 'score': 0.19}, {'connected_gene': 'SRBD1', 'score': 0.13}]
chr2	GH02I045450	45450813	45451058	0.51	[{'connected_gene': 'GC02P045452', 'score': 550.77}, {'connected_gene': 'LOC105374577', 'score': 0.13}, {'connected_gene': 'SRBD1', 'score': 0.1}]
chr2	GH02I045647	45647672	45653103	2.1	[{'connected_gene': 'GC02P045648', 'score': 550.77}, {'connected_gene': 'LOC102724965', 'score': 550.77}, {'connected_gene': 'GC02M045648', 'score': 550.77}, {'connected_gene': 'PRKCE', 'score': 550.77}, {'connected_gene': 'SRBD1', 'score': 12.06}, {'connected_gene': 'LOC100506142', 'score': 9.83}]
chr2	GH02I046434	46434383	46436751	1.22	[{'connected_gene': 'GC02M046254', 'score': 550.77}, {'connected_gene': 'LOC101805491', 'score': 11.66}, {'connected_gene': 'EPAS1', 'score': 10.5}, {'connected_gene': 'ENSG00000232696', 'score': 10.08}, {'connected_gene': 'SRBD1', 'score': 5.0}, {'connected_gene': 'ENSG00000284608', 'score': 0.44}]