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
ENST00000296473	[[49946301, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967578]]	[[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967319]]
ENST00000455683	[[49946305, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967322]]	[[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967319]]
ENST00000417270	[[49946305, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49961966, 49962106], [49967041, 49967606]]	[[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49961966, 49961977]]
ENST00000486107	[[49946307, 49948317], [49950652, 49950792], [49967041, 49967322]]	None
ENST00000484985	[[49948964, 49949444], [49950652, 49950792], [49966801, 49966966]]	None
ENST00000483022	[[49949053, 49949444], [49950652, 49950792], [49953305, 49953423], [49967041, 49967267]]	None
ENST00000493206	[[49949198, 49949444], [49950652, 49950792], [49966862, 49967038]]	None
ENST00000473451	[[49949829, 49950792], [49967041, 49967320]]	None
NM_032355	[[49946301, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967445]]	[[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967319]]
NM_001142501	[[49946301, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967445]]	[[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967319]]

Promoter

Chrom	Start	End	Description
chr3	49967218	49967291	CAGE_peak_1_at_MON1A_5end
chr3	49967292	49967327	CAGE_peak_2_at_MON1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I049924	49924465	49931909	2.25	[{'connected_gene': 'MON1A', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 43.9}, {'connected_gene': 'CDHR4', 'score': 8.77}, {'connected_gene': 'GPX1', 'score': 4.73}, {'connected_gene': 'SEMA3F-AS1', 'score': 4.44}, {'connected_gene': 'HYAL1', 'score': 3.64}, {'connected_gene': 'GC03P049904', 'score': 0.34}, {'connected_gene': 'LOC102724438', 'score': 0.31}, {'connected_gene': 'GC03P049762', 'score': 0.1}, {'connected_gene': 'GC03P049763', 'score': 0.1}]
chr3	GH03I050003	50003306	50003417	0.26	[{'connected_gene': 'MON1A', 'score': 10.96}, {'connected_gene': 'RBM6', 'score': 10.95}, {'connected_gene': 'RBM5', 'score': 10.79}, {'connected_gene': 'IP6K1', 'score': 10.33}, {'connected_gene': 'PHF5EP', 'score': 10.32}, {'connected_gene': 'SEMA3B', 'score': 5.08}, {'connected_gene': 'GC03P049762', 'score': 0.07}, {'connected_gene': 'GC03P049763', 'score': 0.07}]
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	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	GH03I050028	50028488	50028637	0.2	[{'connected_gene': 'RBM5', 'score': 12.0}, {'connected_gene': 'RBM6', 'score': 11.5}, {'connected_gene': 'MON1A', 'score': 11.48}]
chr3	GH03I049972	49972617	49974057	0.38	[{'connected_gene': 'RBM6', 'score': 54.22}, {'connected_gene': 'MON1A', 'score': 11.85}, {'connected_gene': 'IP6K1', 'score': 10.41}, {'connected_gene': 'PHF5EP', 'score': 10.4}, {'connected_gene': 'SEMA3F', 'score': 9.87}, {'connected_gene': 'SEMA3F-AS1', 'score': 9.87}, {'connected_gene': 'CDHR4', 'score': 8.04}, {'connected_gene': 'RBM5', 'score': 0.13}, {'connected_gene': 'GC03P049762', 'score': 0.08}, {'connected_gene': 'GC03P049763', 'score': 0.08}]
chr3	GH03I049968	49968468	49968617	0.2	[{'connected_gene': 'RBM6', 'score': 11.9}, {'connected_gene': 'MON1A', 'score': 11.87}, {'connected_gene': 'IP6K1', 'score': 10.41}, {'connected_gene': 'PHF5EP', 'score': 10.4}, {'connected_gene': 'SEMA3F-AS1', 'score': 9.87}, {'connected_gene': 'SEMA3F', 'score': 9.87}, {'connected_gene': 'RBM5', 'score': 0.13}, {'connected_gene': 'GC03P049763', 'score': 0.08}, {'connected_gene': 'GC03P049762', 'score': 0.08}]
chr3	GH03I050092	50091428	50091577	0.2	[{'connected_gene': 'RBM6', 'score': 52.84}, {'connected_gene': 'MON1A', 'score': 10.83}, {'connected_gene': 'SEMA3F-AS1', 'score': 10.82}, {'connected_gene': 'SEMA3F', 'score': 10.82}, {'connected_gene': 'RBM5', 'score': 0.77}, {'connected_gene': 'RBM5-AS1', 'score': 0.44}]
chr3	GH03I050091	50091048	50091197	0.52	[{'connected_gene': 'RBM6', 'score': 10.84}, {'connected_gene': 'MON1A', 'score': 10.83}, {'connected_gene': 'SEMA3F-AS1', 'score': 10.82}, {'connected_gene': 'SEMA3F', 'score': 10.82}, {'connected_gene': 'RBM5', 'score': 0.77}, {'connected_gene': 'RBM5-AS1', 'score': 0.44}]
chr3	GH03I049936	49936878	49938117	0.79	[{'connected_gene': 'RBM6', 'score': 44.28}, {'connected_gene': 'MON1A', 'score': 0.44}, {'connected_gene': 'GC03P049763', 'score': 0.09}, {'connected_gene': 'GC03P049762', 'score': 0.09}]
chr3	GH03I050049	50049635	50051391	0.62	[{'connected_gene': 'RBM6', 'score': 68.53}, {'connected_gene': 'RBM5', 'score': 26.21}, {'connected_gene': 'HEMK1', 'score': 11.86}, {'connected_gene': 'AMT', 'score': 11.8}, {'connected_gene': 'QRICH1', 'score': 11.74}, {'connected_gene': 'MON1A', 'score': 11.36}, {'connected_gene': 'ENSG00000230454', 'score': 11.06}, {'connected_gene': 'DOCK3', 'score': 4.1}]
chr3	GH03I050100	50100568	50101786	0.38	[{'connected_gene': 'RBM5-AS1', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 51.57}, {'connected_gene': 'SEMA3F-AS1', 'score': 11.18}, {'connected_gene': 'SEMA3F', 'score': 11.18}, {'connected_gene': 'MON1A', 'score': 10.31}, {'connected_gene': 'RBM5', 'score': 0.39}]
chr3	GH03I049918	49918001	49918400	0.2	[{'connected_gene': 'GC03P049904', 'score': 0.39}, {'connected_gene': 'MON1A', 'score': 0.39}, {'connected_gene': 'LOC102724438', 'score': 0.37}, {'connected_gene': 'GC03P049763', 'score': 0.1}, {'connected_gene': 'GC03P049762', 'score': 0.1}]
chr3	GH03I050188	50188868	50190037	1	[{'connected_gene': 'GC03P050187', 'score': 550.77}, {'connected_gene': 'GC03P050190', 'score': 550.77}, {'connected_gene': 'GNAI2', 'score': 12.78}, {'connected_gene': 'SEMA3F', 'score': 12.49}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.49}, {'connected_gene': 'SEMA3B-AS1', 'score': 11.75}, {'connected_gene': 'SEMA3B', 'score': 11.75}, {'connected_gene': 'LSMEM2', 'score': 11.74}, {'connected_gene': 'IFRD2', 'score': 11.2}, {'connected_gene': 'HYAL3', 'score': 11.18}, {'connected_gene': 'MON1A', 'score': 9.56}, {'connected_gene': 'RBM6', 'score': 9.55}, {'connected_gene': 'GC03P050192', 'score': 0.77}, {'connected_gene': 'GC03P050191', 'score': 0.77}]
chr3	GH03I049910	49910968	49911117	0.46	[{'connected_gene': 'GC03P049904', 'score': 0.44}, {'connected_gene': 'ENSG00000228008', 'score': 0.44}, {'connected_gene': 'LOC102724438', 'score': 0.39}, {'connected_gene': 'MON1A', 'score': 0.37}, {'connected_gene': 'GC03P049763', 'score': 0.11}, {'connected_gene': 'GC03P049762', 'score': 0.11}]
chr3	GH03I049907	49907454	49907884	0.2	[{'connected_gene': 'GC03P049904', 'score': 0.77}, {'connected_gene': 'ENSG00000228008', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.44}, {'connected_gene': 'MON1A', 'score': 0.34}, {'connected_gene': 'GC03P049763', 'score': 0.11}, {'connected_gene': 'GC03P049762', 'score': 0.11}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3	GH03I049911	49910528	49910677	0.49	[{'connected_gene': 'GC03P049904', 'score': 0.44}, {'connected_gene': 'ENSG00000228008', 'score': 0.44}, {'connected_gene': 'LOC102724438', 'score': 0.39}, {'connected_gene': 'MON1A', 'score': 0.37}, {'connected_gene': 'GC03P049763', 'score': 0.11}, {'connected_gene': 'GC03P049762', 'score': 0.11}]