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
ENST00000312106	[[65784222, 65784387], [65784530, 65784645], [65786297, 65786373], [65787610, 65787671], [65787787, 65787860], [65788034, 65788098], [65788281, 65788425], [65788564, 65788656], [65788966, 65789114], [65789236, 65789350], [65790319, 65790532], [65792634, 65793988]]	[[65784360, 65784387], [65784530, 65784645], [65786297, 65786373], [65787610, 65787671], [65787787, 65787860], [65788034, 65788098], [65788281, 65788425], [65788564, 65788656], [65788966, 65789114], [65789236, 65789350], [65790319, 65790532], [65792634, 65793850]]
ENST00000529244	[[65784223, 65784387], [65784530, 65784645], [65786258, 65786373], [65787610, 65787671], [65788281, 65788425], [65788564, 65788685]]	None
NM_053054	[[65784222, 65784387], [65784530, 65784645], [65786297, 65786373], [65787610, 65787671], [65787787, 65787860], [65788034, 65788098], [65788281, 65788425], [65788564, 65788656], [65788966, 65789114], [65789236, 65789350], [65790319, 65790532], [65792634, 65793988]]	[[65784360, 65784387], [65784530, 65784645], [65786297, 65786373], [65787610, 65787671], [65787787, 65787860], [65788034, 65788098], [65788281, 65788425], [65788564, 65788656], [65788966, 65789114], [65789236, 65789350], [65790319, 65790532], [65792634, 65793850]]

Promoter

Chrom	Start	End	Description
chr11	65788602	65788644	CAGE_peak_1_at_CATSPER1_5end
chr11	65788650	65788665	CAGE_peak_2_at_CATSPER1_5end
chr11	65793948	65793955	CAGE_peak_3_at_CATSPER1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I066014	66014696	66016980	1.1	[{'connected_gene': 'BANF1', 'score': 13.02}, {'connected_gene': 'CST6', 'score': 9.74}, {'connected_gene': 'FOSL1', 'score': 1.44}, {'connected_gene': 'CATSPER1', 'score': 0.39}]
chr11	GH11I066108	66108250	66108304	0.51	[{'connected_gene': 'EIF1AD', 'score': 20.57}, {'connected_gene': 'ENSG00000258297', 'score': 14.72}, {'connected_gene': 'MUS81', 'score': 12.84}, {'connected_gene': 'PACS1', 'score': 12.26}, {'connected_gene': 'ENSG00000255038', 'score': 12.26}, {'connected_gene': 'RBM14', 'score': 11.93}, {'connected_gene': 'POLA2', 'score': 11.69}, {'connected_gene': 'CATSPER1', 'score': 11.16}, {'connected_gene': 'LOC105369352', 'score': 10.63}, {'connected_gene': 'RELA', 'score': 10.58}, {'connected_gene': 'SART1', 'score': 10.46}, {'connected_gene': 'ENSG00000255320', 'score': 10.41}, {'connected_gene': 'MRPL11', 'score': 10.25}, {'connected_gene': 'RBM4', 'score': 9.78}, {'connected_gene': 'CST6', 'score': 9.74}, {'connected_gene': 'BANF1', 'score': 9.73}, {'connected_gene': 'CD248', 'score': 9.29}, {'connected_gene': 'LOC105369354', 'score': 0.18}]
chr11	GH11I066163	66163084	66165852	0.2	[{'connected_gene': 'RAB1B', 'score': 24.8}, {'connected_gene': 'ENSG00000255320', 'score': 23.75}, {'connected_gene': 'LOC105369352', 'score': 17.52}, {'connected_gene': 'PACS1', 'score': 10.93}, {'connected_gene': 'ENSG00000255038', 'score': 10.93}, {'connected_gene': 'CATSPER1', 'score': 10.62}, {'connected_gene': 'LOC105369351', 'score': 10.04}, {'connected_gene': 'CST6', 'score': 9.49}, {'connected_gene': 'EIF1AD', 'score': 9.48}, {'connected_gene': 'BANF1', 'score': 9.48}, {'connected_gene': 'KLC2', 'score': 5.28}, {'connected_gene': 'LOC105369354', 'score': 0.37}]
chr11	GH11I066161	66161950	66162119	0.51	[{'connected_gene': 'PACS1', 'score': 10.93}, {'connected_gene': 'ENSG00000255038', 'score': 10.93}, {'connected_gene': 'ENSG00000255320', 'score': 10.72}, {'connected_gene': 'LOC105369352', 'score': 10.68}, {'connected_gene': 'RAB1B', 'score': 10.67}, {'connected_gene': 'CATSPER1', 'score': 10.62}, {'connected_gene': 'LOC105369351', 'score': 10.04}, {'connected_gene': 'CST6', 'score': 9.49}, {'connected_gene': 'EIF1AD', 'score': 9.49}, {'connected_gene': 'BANF1', 'score': 9.49}, {'connected_gene': 'KLC2', 'score': 5.3}, {'connected_gene': 'LOC105369354', 'score': 0.34}]
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	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	GH11I066010	66010836	66013727	1.55	[{'connected_gene': 'CST6', 'score': 561.5}, {'connected_gene': 'EIF1AD', 'score': 14.26}, {'connected_gene': 'CATSPER1', 'score': 0.39}]
chr11	GH11I066026	66026469	66026528	0.68	[{'connected_gene': 'CATSPER1', 'score': 550.77}, {'connected_gene': 'SF3B2', 'score': 17.56}, {'connected_gene': 'CST6', 'score': 0.39}]
chr11	GH11I066048	66048353	66049630	1.16	[{'connected_gene': 'SF3B2', 'score': 550.77}, {'connected_gene': 'GAL3ST3', 'score': 550.77}, {'connected_gene': 'PACS1', 'score': 7.41}, {'connected_gene': 'CATSPER1', 'score': 0.34}]
chr11	GH11I066020	66020043	66023076	1.08	[{'connected_gene': 'SF3B2', 'score': 13.72}, {'connected_gene': 'RAB1B', 'score': 11.01}, {'connected_gene': 'CATSPER1', 'score': 9.23}, {'connected_gene': 'TMEM151A', 'score': 5.19}, {'connected_gene': 'CST6', 'score': 0.44}]
chr11	GH11I066044	66044752	66045779	1.07	[{'connected_gene': 'SF3B2', 'score': 14.94}, {'connected_gene': 'ENSG00000255038', 'score': 11.18}, {'connected_gene': 'PACS1', 'score': 11.15}, {'connected_gene': 'ENSG00000255320', 'score': 8.03}, {'connected_gene': 'GAL3ST3', 'score': 0.77}, {'connected_gene': 'CATSPER1', 'score': 0.37}]
chr11	GH11I066054	66054200	66059585	0.54	[{'connected_gene': 'SF3B2', 'score': 20.49}, {'connected_gene': 'ENSG00000255320', 'score': 12.21}, {'connected_gene': 'CATSPER1', 'score': 8.35}, {'connected_gene': 'TMEM151A', 'score': 6.53}, {'connected_gene': 'GC11P066062', 'score': 0.44}]
chr11	GH11I066050	66050715	66053797	2.04	[{'connected_gene': 'SF3B2', 'score': 578.42}, {'connected_gene': 'RBM14', 'score': 26.09}, {'connected_gene': 'POLA2', 'score': 23.91}, {'connected_gene': 'RBM4', 'score': 23.07}, {'connected_gene': 'EIF1AD', 'score': 21.8}, {'connected_gene': 'PCNX3', 'score': 21.19}, {'connected_gene': 'LOC105369352', 'score': 20.98}, {'connected_gene': 'ENSG00000258297', 'score': 19.44}, {'connected_gene': 'MUS81', 'score': 15.04}, {'connected_gene': 'ENSG00000245156', 'score': 14.02}, {'connected_gene': 'SART1', 'score': 13.48}, {'connected_gene': 'ZFPL1', 'score': 13.24}, {'connected_gene': 'RELA', 'score': 13.13}, {'connected_gene': 'SYVN1', 'score': 12.91}, {'connected_gene': 'SSSCA1', 'score': 12.15}, {'connected_gene': 'ENSG00000255320', 'score': 12.01}, {'connected_gene': 'FAU', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'ENSG00000255038', 'score': 11.22}, {'connected_gene': 'SCYL1', 'score': 11.17}, {'connected_gene': 'NEAT1', 'score': 11.06}, {'connected_gene': 'KAT5', 'score': 10.46}, {'connected_gene': 'FRMD8', 'score': 10.05}, {'connected_gene': 'NAALADL1', 'score': 9.93}, {'connected_gene': 'MALAT1', 'score': 9.91}, {'connected_gene': 'CCS', 'score': 9.89}, {'connected_gene': 'ENSG00000254461', 'score': 9.76}, {'connected_gene': 'CATSPER1', 'score': 8.15}, {'connected_gene': 'KLC2', 'score': 5.58}, {'connected_gene': 'TMEM151A', 'score': 5.28}, {'connected_gene': 'GC11P066062', 'score': 0.44}]
chr11	GH11I066106	66106713	66107999	1.02	[{'connected_gene': 'ENSG00000255320', 'score': 24.23}, {'connected_gene': 'PACS1', 'score': 12.26}, {'connected_gene': 'ENSG00000255038', 'score': 12.26}, {'connected_gene': 'CATSPER1', 'score': 11.16}, {'connected_gene': 'CST6', 'score': 9.74}, {'connected_gene': 'EIF1AD', 'score': 9.73}, {'connected_gene': 'BANF1', 'score': 9.73}, {'connected_gene': 'CD248', 'score': 9.29}, {'connected_gene': 'TMEM151A', 'score': 5.86}, {'connected_gene': 'LOC105369354', 'score': 0.18}]
chr11	GH11I066111	66111018	66121312	1.37	[{'connected_gene': 'ENSG00000255320', 'score': 38.17}, {'connected_gene': 'SF3B2', 'score': 33.42}, {'connected_gene': 'SART1', 'score': 30.74}, {'connected_gene': 'EIF1AD', 'score': 23.42}, {'connected_gene': 'ENSG00000258297', 'score': 22.69}, {'connected_gene': 'ENSG00000255038', 'score': 21.95}, {'connected_gene': 'PACS1', 'score': 20.16}, {'connected_gene': 'KAT5', 'score': 19.71}, {'connected_gene': 'RBM14', 'score': 19.42}, {'connected_gene': 'CD248', 'score': 19.0}, {'connected_gene': 'RELA', 'score': 16.52}, {'connected_gene': 'POLA2', 'score': 15.77}, {'connected_gene': 'MUS81', 'score': 14.43}, {'connected_gene': 'RAB1B', 'score': 13.51}, {'connected_gene': 'FAU', 'score': 12.93}, {'connected_gene': 'GAL3ST3', 'score': 12.05}, {'connected_gene': 'PCNX3', 'score': 11.76}, {'connected_gene': 'CATSPER1', 'score': 11.37}, {'connected_gene': 'DPF2', 'score': 11.0}, {'connected_gene': 'RBM4', 'score': 10.61}, {'connected_gene': 'CST6', 'score': 10.32}, {'connected_gene': 'BANF1', 'score': 10.31}, {'connected_gene': 'LOC105369352', 'score': 10.05}, {'connected_gene': 'SYVN1', 'score': 10.01}, {'connected_gene': 'KLC2', 'score': 6.46}, {'connected_gene': 'TMEM151A', 'score': 6.33}, {'connected_gene': 'LOC105369354', 'score': 0.2}]