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
ENST00000335987	[[65554492, 65554944], [65561501, 65561719], [65562008, 65562198], [65562516, 65564690]]	[[65554844, 65554944], [65561501, 65561719], [65562008, 65562198], [65562516, 65562812]]
ENST00000531907	[[65557599, 65557959], [65559788, 65559921], [65561501, 65561566]]	None
ENST00000532448	[[65561179, 65561719], [65562008, 65562198], [65562516, 65563560]]	[[65561587, 65561719], [65562008, 65562198], [65562516, 65562812]]
NM_004561	[[65554504, 65554944], [65561501, 65561719], [65562008, 65562198], [65562516, 65564690]]	[[65554844, 65554944], [65561501, 65561719], [65562008, 65562198], [65562516, 65562812]]

Promoter

Chrom	Start	End	Description
chr11	65554528	65554546	CAGE_peak_1_at_OVOL1_5end
chr11	65554563	65554576	CAGE_peak_2_at_OVOL1_5end
chr11	65554898	65554910	CAGE_peak_3_at_OVOL1_5end
chr11	65554911	65554921	CAGE_peak_5_at_OVOL1_5end
chr11	65554934	65554948	CAGE_peak_4_at_OVOL1_5end
chr11	65561555	65561565	CAGE_peak_6_at_OVOL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I065774	65774001	65782813	2.42	[{'connected_gene': 'AP5B1', 'score': 555.67}, {'connected_gene': 'RBM14', 'score': 33.29}, {'connected_gene': 'ENSG00000258297', 'score': 30.32}, {'connected_gene': 'PCNX3', 'score': 27.75}, {'connected_gene': 'RBM4', 'score': 26.89}, {'connected_gene': 'ZFPL1', 'score': 26.43}, {'connected_gene': 'SF1', 'score': 25.73}, {'connected_gene': 'LOC105369352', 'score': 25.71}, {'connected_gene': 'ENSG00000255038', 'score': 22.93}, {'connected_gene': 'SF3B2', 'score': 22.87}, {'connected_gene': 'KRT8P26', 'score': 21.86}, {'connected_gene': 'EIF1AD', 'score': 20.59}, {'connected_gene': 'CCS', 'score': 19.58}, {'connected_gene': 'ENSG00000245156', 'score': 18.94}, {'connected_gene': 'RNASEH2C', 'score': 17.33}, {'connected_gene': 'POLA2', 'score': 16.66}, {'connected_gene': 'ENSG00000254461', 'score': 16.56}, {'connected_gene': 'MAP3K11', 'score': 14.16}, {'connected_gene': 'SART1', 'score': 14.1}, {'connected_gene': 'MEN1', 'score': 13.25}, {'connected_gene': 'SSSCA1-AS1', 'score': 12.77}, {'connected_gene': 'KAT5', 'score': 12.75}, {'connected_gene': 'MUS81', 'score': 11.86}, {'connected_gene': 'ENSG00000255320', 'score': 11.54}, {'connected_gene': 'SCYL1', 'score': 11.08}, {'connected_gene': 'SSSCA1', 'score': 10.32}, {'connected_gene': 'FRMD8', 'score': 10.15}, {'connected_gene': 'ATG2A', 'score': 9.69}, {'connected_gene': 'OVOL1', 'score': 8.89}, {'connected_gene': 'SIPA1', 'score': 7.4}, {'connected_gene': 'LTBP3', 'score': 4.39}, {'connected_gene': 'KLC2', 'score': 4.25}, {'connected_gene': 'ENSG00000255557', 'score': 0.29}]
chr11	GH11I065787	65786065	65786105	0.51	[{'connected_gene': 'OVOL1', 'score': 550.77}, {'connected_gene': 'AP5B1', 'score': 0.44}]
chr11	GH11I065786	65786447	65790818	2.2	[{'connected_gene': 'OVOL1', 'score': 559.72}, {'connected_gene': 'PIR37328', 'score': 550.77}, {'connected_gene': 'CATSPER1', 'score': 28.74}, {'connected_gene': 'KRT8P26', 'score': 19.79}, {'connected_gene': 'MAP3K11', 'score': 13.86}, {'connected_gene': 'ZFPL1', 'score': 12.3}, {'connected_gene': 'ENSG00000258297', 'score': 12.28}, {'connected_gene': 'MEN1', 'score': 10.41}, {'connected_gene': 'SYVN1', 'score': 10.02}, {'connected_gene': 'LOC105369352', 'score': 9.99}, {'connected_gene': 'ENSG00000255038', 'score': 9.79}, {'connected_gene': 'RBM14', 'score': 9.73}, {'connected_gene': 'RNASEH2C', 'score': 8.91}, {'connected_gene': 'TSGA10IP', 'score': 7.39}, {'connected_gene': 'SIPA1', 'score': 6.73}, {'connected_gene': 'OVOL1-AS1', 'score': 0.77}]
chr11	GH11I065783	65783988	65785099	0.49	[{'connected_gene': 'MAP3K11', 'score': 14.2}, {'connected_gene': 'OVOL1', 'score': 12.08}, {'connected_gene': 'AP5B1', 'score': 0.77}]
chr11	GH11I065945	65945172	65946419	0.77	[{'connected_gene': 'TSGA10IP', 'score': 550.77}, {'connected_gene': 'LOC105369350', 'score': 550.77}, {'connected_gene': 'DRAP1', 'score': 12.6}, {'connected_gene': 'C11orf68', 'score': 12.6}, {'connected_gene': 'FOSL1', 'score': 12.53}, {'connected_gene': 'EIF1AD', 'score': 11.4}, {'connected_gene': 'BANF1', 'score': 11.4}, {'connected_gene': 'CST6', 'score': 11.38}, {'connected_gene': 'CTSW', 'score': 11.37}, {'connected_gene': 'EFEMP2', 'score': 11.36}, {'connected_gene': 'CFL1', 'score': 11.34}, {'connected_gene': 'MUS81', 'score': 11.33}, {'connected_gene': 'CCDC85B', 'score': 11.18}, {'connected_gene': 'FIBP', 'score': 11.18}, {'connected_gene': 'CATSPER1', 'score': 10.78}, {'connected_gene': 'OVOL1-AS1', 'score': 10.13}, {'connected_gene': 'OVOL1', 'score': 10.12}, {'connected_gene': 'AP5B1', 'score': 10.12}, {'connected_gene': 'SART1', 'score': 0.37}]
chr11	GH11I065811	65811190	65813223	0.72	[{'connected_gene': 'SNX32', 'score': 29.65}, {'connected_gene': 'CTSW', 'score': 27.96}, {'connected_gene': 'MAP3K11', 'score': 21.07}, {'connected_gene': 'OVOL1-AS1', 'score': 12.38}, {'connected_gene': 'OVOL1', 'score': 12.35}, {'connected_gene': 'AP5B1', 'score': 12.33}, {'connected_gene': 'CFL1', 'score': 11.73}, {'connected_gene': 'PCNX3', 'score': 11.01}, {'connected_gene': 'CCDC85B', 'score': 10.92}, {'connected_gene': 'FIBP', 'score': 10.92}, {'connected_gene': 'SART1', 'score': 10.9}, {'connected_gene': 'EIF1AD', 'score': 10.32}, {'connected_gene': 'BANF1', 'score': 10.32}, {'connected_gene': 'CST6', 'score': 10.32}, {'connected_gene': 'KCNK7', 'score': 10.16}, {'connected_gene': 'SSSCA1', 'score': 10.16}, {'connected_gene': 'FAM89B', 'score': 10.15}, {'connected_gene': 'EHBP1L1', 'score': 10.15}, {'connected_gene': 'EFEMP2', 'score': 5.39}, {'connected_gene': 'GC11M065816', 'score': 0.44}, {'connected_gene': 'ENSG00000255404', 'score': 0.39}]
chr11	GH11I065826	65826230	65829598	0.74	[{'connected_gene': 'SNX32', 'score': 69.29}, {'connected_gene': 'CTSW', 'score': 21.61}, {'connected_gene': 'OVOL1-AS1', 'score': 21.21}, {'connected_gene': 'MUS81', 'score': 12.0}, {'connected_gene': 'CFL1', 'score': 11.98}, {'connected_gene': 'OVOL1', 'score': 11.89}, {'connected_gene': 'AP5B1', 'score': 11.87}, {'connected_gene': 'ENSG00000255404', 'score': 11.62}, {'connected_gene': 'SART1', 'score': 10.99}, {'connected_gene': 'SIPA1', 'score': 8.5}, {'connected_gene': 'TSGA10IP', 'score': 8.0}, {'connected_gene': 'EFEMP2', 'score': 6.87}, {'connected_gene': 'GC11M065816', 'score': 0.39}]
chr11	GH11I065819	65819535	65824921	0.9	[{'connected_gene': 'CTSW', 'score': 21.9}, {'connected_gene': 'MUS81', 'score': 11.98}, {'connected_gene': 'CFL1', 'score': 11.96}, {'connected_gene': 'OVOL1-AS1', 'score': 11.92}, {'connected_gene': 'OVOL1', 'score': 11.9}, {'connected_gene': 'AP5B1', 'score': 11.89}, {'connected_gene': 'ENSG00000255404', 'score': 11.64}, {'connected_gene': 'SART1', 'score': 10.99}, {'connected_gene': 'SNX32', 'score': 7.15}, {'connected_gene': 'EFEMP2', 'score': 6.79}, {'connected_gene': 'SIPA1', 'score': 6.43}, {'connected_gene': 'GC11M065816', 'score': 0.77}]
chr11	GH11I065665	65665822	65666711	0.2	[{'connected_gene': 'KAT5', 'score': 11.6}, {'connected_gene': 'RNASEH2C', 'score': 11.31}, {'connected_gene': 'KCNK7', 'score': 10.89}, {'connected_gene': 'AP5B1', 'score': 10.88}, {'connected_gene': 'OVOL1-AS1', 'score': 10.87}, {'connected_gene': 'OVOL1', 'score': 10.87}, {'connected_gene': 'EHBP1L1', 'score': 10.86}, {'connected_gene': 'SART1', 'score': 10.13}, {'connected_gene': 'SIPA1', 'score': 6.9}, {'connected_gene': 'LOC105369347', 'score': 0.77}, {'connected_gene': 'RELA', 'score': 0.77}, {'connected_gene': 'RN7SL309P', 'score': 0.31}]
chr11	GH11I065791	65791333	65793950	1.23	[{'connected_gene': 'OVOL1-AS1', 'score': 554.99}, {'connected_gene': 'KRT8P26', 'score': 17.78}, {'connected_gene': 'OVOL1', 'score': 13.03}, {'connected_gene': 'SIPA1', 'score': 8.16}, {'connected_gene': 'CTSW', 'score': 5.66}, {'connected_gene': 'RNASEH2C', 'score': 5.4}, {'connected_gene': 'PIR59464', 'score': 0.77}]
chr11	GH11I065743	65743557	65745159	0.77	[{'connected_gene': 'ENSG00000255557', 'score': 550.77}, {'connected_gene': 'MAP3K11', 'score': 12.78}, {'connected_gene': 'KAT5', 'score': 12.12}, {'connected_gene': 'RNASEH2C', 'score': 11.98}, {'connected_gene': 'AP5B1', 'score': 11.76}, {'connected_gene': 'OVOL1', 'score': 11.74}, {'connected_gene': 'OVOL1-AS1', 'score': 11.73}, {'connected_gene': 'ENSG00000255404', 'score': 11.54}, {'connected_gene': 'EIF1AD', 'score': 10.28}, {'connected_gene': 'BANF1', 'score': 10.28}, {'connected_gene': 'CST6', 'score': 10.28}, {'connected_gene': 'SART1', 'score': 10.0}, {'connected_gene': 'ENSG00000269038', 'score': 9.84}, {'connected_gene': 'GC11M065741', 'score': 0.77}]