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
ENST00000304478	[[685512, 685932], [686322, 686567], [691204, 691372], [694773, 695749]]	[[685618, 685932], [686322, 686567], [691204, 691372], [694773, 695309]]
ENST00000574916	[[685597, 685932], [686322, 686757]]	None
ENST00000574509	[[685606, 685932], [691204, 691372], [694773, 695006]]	[[685618, 685932], [691204, 691223]]
ENST00000571157	[[685839, 685932], [686322, 686567], [691204, 691438]]	[[685839, 685932], [686322, 686567], [691204, 691398]]
NM_001317947	[[685568, 685932], [691204, 691372], [694773, 695749]]	[[691233, 691372], [694773, 695309]]
NM_018146	[[685568, 685932], [686322, 686567], [691204, 691372], [694773, 695749]]	[[685618, 685932], [686322, 686567], [691204, 691372], [694773, 695309]]

Promoter

Chrom	Start	End	Description
chr17	685581	685621	CAGE_peak_1_at_RNMTL1_5end
chr17	685638	685645	CAGE_peak_2_at_RNMTL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I000232	232601	235199	1.01	[{'connected_gene': 'DOC2B', 'score': 18.49}, {'connected_gene': 'FAM57A', 'score': 11.17}, {'connected_gene': 'RPH3AL', 'score': 10.68}, {'connected_gene': 'TIMM22', 'score': 9.88}, {'connected_gene': 'MRM3', 'score': 5.29}, {'connected_gene': 'GC17M000217', 'score': 0.44}, {'connected_gene': 'GC17P000246', 'score': 0.39}]
chr17	GH17I000237	237097	237859	0.43	[{'connected_gene': 'DOC2B', 'score': 12.07}, {'connected_gene': 'TIMM22', 'score': 9.52}, {'connected_gene': 'RPH3AL', 'score': 7.97}, {'connected_gene': 'MRM3', 'score': 5.58}, {'connected_gene': 'GC17P000246', 'score': 0.44}, {'connected_gene': 'GC17M000217', 'score': 0.39}]
chr17	GH17I000728	728144	734137	2.14	[{'connected_gene': 'FAM57A', 'score': 600.34}, {'connected_gene': 'GC17M000727', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 18.31}, {'connected_gene': 'MRM3', 'score': 12.58}, {'connected_gene': 'GEMIN4', 'score': 8.02}]
chr17	GH17I000773	773520	774614	0.49	[{'connected_gene': 'FAM57A', 'score': 10.21}, {'connected_gene': 'TIMM22', 'score': 10.2}, {'connected_gene': 'DBIL5P', 'score': 8.82}, {'connected_gene': 'GLOD4', 'score': 0.44}, {'connected_gene': 'ENSG00000262228', 'score': 0.44}, {'connected_gene': 'MRM3', 'score': 0.44}]
chr17	GH17I000931	931927	936250	1.39	[{'connected_gene': 'NXN', 'score': 29.54}, {'connected_gene': 'GEMIN4', 'score': 12.09}, {'connected_gene': 'WDR81', 'score': 11.95}, {'connected_gene': 'TIMM22', 'score': 11.48}, {'connected_gene': 'PRPF8', 'score': 10.98}, {'connected_gene': 'GLOD4', 'score': 10.95}, {'connected_gene': 'MRM3', 'score': 10.32}, {'connected_gene': 'SMYD4', 'score': 9.8}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'PIR40960', 'score': 0.39}]
chr17	GH17I000937	937174	938733	0.89	[{'connected_gene': 'NXN', 'score': 17.86}, {'connected_gene': 'TIMM22', 'score': 11.49}, {'connected_gene': 'GLOD4', 'score': 10.95}, {'connected_gene': 'MRM3', 'score': 10.32}, {'connected_gene': 'PIR34365', 'score': 0.77}, {'connected_gene': 'PIR40960', 'score': 0.37}]
chr17	GH17I000936	936981	937130	0.83	[{'connected_gene': 'NXN', 'score': 17.16}, {'connected_gene': 'TIMM22', 'score': 11.48}, {'connected_gene': 'GLOD4', 'score': 10.95}, {'connected_gene': 'MRM3', 'score': 10.32}, {'connected_gene': 'PIR34365', 'score': 0.77}, {'connected_gene': 'PIR40960', 'score': 0.37}]
chr17	GH17I000944	944209	944758	0.31	[{'connected_gene': 'NXN', 'score': 11.82}, {'connected_gene': 'TIMM22', 'score': 11.41}, {'connected_gene': 'GLOD4', 'score': 10.39}, {'connected_gene': 'MRM3', 'score': 10.39}, {'connected_gene': 'PIR34365', 'score': 0.77}, {'connected_gene': 'GC17P000949', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.39}]
chr17	GH17I000945	945757	946112	0.51	[{'connected_gene': 'NXN', 'score': 11.6}, {'connected_gene': 'TIMM22', 'score': 10.87}, {'connected_gene': 'GLOD4', 'score': 10.34}, {'connected_gene': 'MRM3', 'score': 10.34}, {'connected_gene': 'GC17P000949', 'score': 0.77}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.39}]
chr17	GH17I000975	975097	981750	2.36	[{'connected_gene': 'NXN', 'score': 550.77}, {'connected_gene': 'PRPF8', 'score': 15.84}, {'connected_gene': 'WDR81', 'score': 13.96}, {'connected_gene': 'SMYD4', 'score': 12.65}, {'connected_gene': 'ENSG00000262920', 'score': 12.43}, {'connected_gene': 'GEMIN4', 'score': 11.52}, {'connected_gene': 'GLOD4', 'score': 10.98}, {'connected_gene': 'MRM3', 'score': 10.33}, {'connected_gene': 'ENSG00000262228', 'score': 10.02}, {'connected_gene': 'ENSG00000263017', 'score': 0.37}]
chr17	GH17I000703	703217	705084	0.43	[{'connected_gene': 'VPS53', 'score': 39.85}, {'connected_gene': 'FAM57A', 'score': 12.45}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.75}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GEMIN4', 'score': 6.01}, {'connected_gene': 'GC17P000714', 'score': 0.39}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17	GH17I000705	705626	706726	0.2	[{'connected_gene': 'VPS53', 'score': 28.61}, {'connected_gene': 'FAM57A', 'score': 22.91}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.74}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GC17P000714', 'score': 0.44}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17	GH17I000781	781212	783387	2.07	[{'connected_gene': 'MRM3', 'score': 567.38}, {'connected_gene': 'GLOD4', 'score': 550.77}, {'connected_gene': 'PRPF8', 'score': 23.89}, {'connected_gene': 'ENSG00000262228', 'score': 16.24}, {'connected_gene': 'GEMIN4', 'score': 12.49}, {'connected_gene': 'CRK', 'score': 10.21}, {'connected_gene': 'MYO1C', 'score': 9.67}]
chr17	GH17I000737	737201	738497	0.31	[{'connected_gene': 'MRM3', 'score': 20.41}, {'connected_gene': 'DBIL5P', 'score': 13.91}, {'connected_gene': 'GLOD4', 'score': 11.25}, {'connected_gene': 'NXN', 'score': 11.17}, {'connected_gene': 'TIMM22', 'score': 10.39}, {'connected_gene': 'FAM57A', 'score': 8.15}, {'connected_gene': 'GEMIN4', 'score': 7.64}, {'connected_gene': 'ENSG00000262228', 'score': 7.56}, {'connected_gene': 'GC17M000743', 'score': 0.77}, {'connected_gene': 'PIR59934', 'score': 0.77}]
chr17	GH17I000784	784401	784600	0.31	[{'connected_gene': 'GLOD4', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 11.95}, {'connected_gene': 'MRM3', 'score': 0.77}, {'connected_gene': 'ENSG00000262434', 'score': 0.44}]
chr17	GH17I000787	787861	788010	0.2	[{'connected_gene': 'GLOD4', 'score': 0.77}, {'connected_gene': 'ENSG00000262434', 'score': 0.77}, {'connected_gene': 'MRM3', 'score': 0.44}]
chr17	GH17I000754	754249	754384	0.31	[{'connected_gene': 'GEMIN4', 'score': 550.77}, {'connected_gene': 'DBIL5P', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 11.59}, {'connected_gene': 'GLOD4', 'score': 11.3}, {'connected_gene': 'MRM3', 'score': 11.3}, {'connected_gene': 'TIMM22', 'score': 10.49}, {'connected_gene': 'GC17M000760', 'score': 0.44}, {'connected_gene': 'GC17M000759', 'score': 0.44}]
chr17	GH17I000750	750583	754070	2.03	[{'connected_gene': 'GEMIN4', 'score': 568.26}, {'connected_gene': 'DBIL5P', 'score': 564.12}, {'connected_gene': 'PIR42448', 'score': 550.77}, {'connected_gene': 'PRPF8', 'score': 34.05}, {'connected_gene': 'FAM57A', 'score': 22.46}, {'connected_gene': 'MRM3', 'score': 16.61}, {'connected_gene': 'WDR81', 'score': 14.01}, {'connected_gene': 'GLOD4', 'score': 11.48}, {'connected_gene': 'VPS53', 'score': 10.96}, {'connected_gene': 'ENSG00000262920', 'score': 10.49}, {'connected_gene': 'TIMM22', 'score': 10.49}, {'connected_gene': 'ENSG00000262777', 'score': 10.03}]
chr17	GH17I001060	1060443	1061769	0.94	[{'connected_gene': 'TIMM22', 'score': 11.61}, {'connected_gene': 'NXN', 'score': 10.45}, {'connected_gene': 'GLOD4', 'score': 10.08}, {'connected_gene': 'MRM3', 'score': 10.07}, {'connected_gene': 'MIR22HG', 'score': 5.34}, {'connected_gene': 'ABR', 'score': 4.94}, {'connected_gene': 'MIR3183', 'score': 0.28}, {'connected_gene': 'ENSG00000278794', 'score': 0.26}]
chr17	GH17I001058	1058413	1060153	0.72	[{'connected_gene': 'TIMM22', 'score': 11.61}, {'connected_gene': 'NXN', 'score': 10.46}, {'connected_gene': 'GLOD4', 'score': 10.08}, {'connected_gene': 'MRM3', 'score': 10.07}, {'connected_gene': 'MIR22HG', 'score': 5.37}, {'connected_gene': 'MIR3183', 'score': 0.28}, {'connected_gene': 'ENSG00000278794', 'score': 0.26}, {'connected_gene': 'ABR', 'score': 0.1}]
chr17	GH17I000946	946561	947637	0.2	[{'connected_gene': 'TIMM22', 'score': 15.55}, {'connected_gene': 'NXN', 'score': 11.6}, {'connected_gene': 'GLOD4', 'score': 10.34}, {'connected_gene': 'MRM3', 'score': 10.34}, {'connected_gene': 'GC17P000949', 'score': 0.77}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.44}]
chr17	GH17I000964	964056	966620	1.17	[{'connected_gene': 'TIMM22', 'score': 11.71}, {'connected_gene': 'GLOD4', 'score': 10.58}, {'connected_gene': 'MRM3', 'score': 10.58}, {'connected_gene': 'NXN', 'score': 5.02}, {'connected_gene': 'ENSG00000263017', 'score': 0.44}, {'connected_gene': 'GC17P000949', 'score': 0.37}]
chr17	GH17I001053	1053122	1055251	0.38	[{'connected_gene': 'TIMM22', 'score': 11.45}, {'connected_gene': 'GLOD4', 'score': 10.28}, {'connected_gene': 'MRM3', 'score': 9.54}, {'connected_gene': 'CRK', 'score': 5.27}, {'connected_gene': 'MIR3183', 'score': 0.29}, {'connected_gene': 'ENSG00000278794', 'score': 0.25}, {'connected_gene': 'ABR', 'score': 0.09}]
chr17	GH17I000330	330744	340492	1.59	[{'connected_gene': 'LOC100506388', 'score': 37.74}, {'connected_gene': 'GEMIN4', 'score': 15.4}, {'connected_gene': 'NXN', 'score': 10.79}, {'connected_gene': 'FAM57A', 'score': 10.22}, {'connected_gene': 'MRM3', 'score': 1.26}, {'connected_gene': 'GC17P000332', 'score': 0.77}, {'connected_gene': 'LOC105371425', 'score': 0.77}, {'connected_gene': 'GC17M000276', 'score': 0.25}, {'connected_gene': 'RPH3AL', 'score': 0.23}]
chr17	GH17I000794	794461	796310	1.17	[{'connected_gene': 'ENSG00000277491', 'score': 550.77}, {'connected_gene': 'GC17P000796', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 14.12}, {'connected_gene': 'VPS53', 'score': 13.4}, {'connected_gene': 'NXN', 'score': 11.44}, {'connected_gene': 'TIMM22', 'score': 11.03}, {'connected_gene': 'GEMIN4', 'score': 8.19}, {'connected_gene': 'MRM3', 'score': 7.24}, {'connected_gene': 'DBIL5P', 'score': 5.67}]
chr17	GH17I000739	739654	741000	0.94	[{'connected_gene': 'GC17M000743', 'score': 550.77}, {'connected_gene': 'PIR59934', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 22.6}, {'connected_gene': 'VPS53', 'score': 13.47}, {'connected_gene': 'MRM3', 'score': 9.52}, {'connected_gene': 'ENSG00000262228', 'score': 7.6}]
chr17	GH17I000868	868192	870864	1.27	[{'connected_gene': 'ENSG00000262133', 'score': 23.28}, {'connected_gene': 'NXN', 'score': 6.43}, {'connected_gene': 'MRM3', 'score': 1.82}, {'connected_gene': 'GC17P000796', 'score': 0.19}]
chr17	GH17I000949	949402	952957	1.24	[{'connected_gene': 'GC17P000949', 'score': 550.77}, {'connected_gene': 'NXN', 'score': 16.86}, {'connected_gene': 'TIMM22', 'score': 10.88}, {'connected_gene': 'GLOD4', 'score': 10.35}, {'connected_gene': 'MRM3', 'score': 10.35}, {'connected_gene': 'LOC100506388', 'score': 4.93}, {'connected_gene': 'GC17M000942', 'score': 0.77}]
chr17	GH17I000948	948135	948921	0.58	[{'connected_gene': 'GC17P000949', 'score': 550.77}, {'connected_gene': 'NXN', 'score': 16.25}, {'connected_gene': 'TIMM22', 'score': 10.88}, {'connected_gene': 'GLOD4', 'score': 10.35}, {'connected_gene': 'MRM3', 'score': 10.35}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.44}]
chr17	GH17I000788	788510	791090	0.79	[{'connected_gene': 'ENSG00000262434', 'score': 550.77}, {'connected_gene': 'MRM3', 'score': 10.37}, {'connected_gene': 'VPS53', 'score': 7.74}, {'connected_gene': 'GLOD4', 'score': 0.44}]
chr17	GH17I000502	502650	503922	1.37	[{'connected_gene': 'ENSG00000263015', 'score': 555.48}, {'connected_gene': 'PIR31675', 'score': 550.77}, {'connected_gene': 'GC17P000501', 'score': 550.77}, {'connected_gene': 'PIR61875', 'score': 550.77}, {'connected_gene': 'RFLNB', 'score': 9.07}, {'connected_gene': 'VPS53', 'score': 5.0}, {'connected_gene': 'MRM3', 'score': 2.31}, {'connected_gene': 'C17orf97', 'score': 1.85}]