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
NM_138568	[[45715878, 45716615], [45719330, 45719452], [45720785, 45720941], [45721454, 45721577], [45728035, 45728171], [45730919, 45731030], [45731231, 45731332], [45731422, 45731524], [45735020, 45735132], [45737450, 45737469]]	[[45716326, 45716615], [45719330, 45719452], [45720785, 45720941], [45721454, 45721577], [45728035, 45728171], [45730919, 45731030], [45731231, 45731332], [45731422, 45731524], [45735020, 45735110]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045211	45211782	45212892	0.38	[{'connected_gene': 'EXOC3L2', 'score': 13.3}, {'connected_gene': 'MARK4', 'score': 5.35}, {'connected_gene': 'GC19M045188', 'score': 0.34}, {'connected_gene': 'ENSG00000266958', 'score': 0.34}, {'connected_gene': 'LOC100420902', 'score': 0.34}, {'connected_gene': 'BLOC1S3', 'score': 0.29}, {'connected_gene': 'GC19M045193', 'score': 0.29}]
chr19	GH19I045244	45244857	45246092	0.84	[{'connected_gene': 'EXOC3L2', 'score': 550.77}, {'connected_gene': 'GC19M045193', 'score': 550.77}, {'connected_gene': 'MARK4', 'score': 19.96}, {'connected_gene': 'GC19M045307', 'score': 0.21}]
chr19	GH19I045248	45248401	45249242	1.04	[{'connected_gene': 'EXOC3L2', 'score': 0.77}, {'connected_gene': 'GC19M045307', 'score': 0.22}, {'connected_gene': 'MARK4', 'score': 0.1}]
chr19	GH19I045241	45241720	45242369	0.72	[{'connected_gene': 'EXOC3L2', 'score': 0.77}, {'connected_gene': 'GC19M045193', 'score': 0.77}, {'connected_gene': 'LOC100420902', 'score': 0.44}, {'connected_gene': 'MARK4', 'score': 0.1}]
chr19	GH19I045583	45583423	45585895	2.28	[{'connected_gene': 'OPA3', 'score': 556.42}, {'connected_gene': 'CCDC61', 'score': 13.39}, {'connected_gene': 'SYMPK', 'score': 10.36}, {'connected_gene': 'IRF2BP1', 'score': 10.1}, {'connected_gene': 'EXOC3L2', 'score': 4.99}, {'connected_gene': 'GPR4', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.34}]
chr19	GH19I045492	45492131	45494252	2.19	[{'connected_gene': 'RTN2', 'score': 557.37}, {'connected_gene': 'PPM1N', 'score': 29.58}, {'connected_gene': 'CLASRP', 'score': 13.16}, {'connected_gene': 'CCDC61', 'score': 12.57}, {'connected_gene': 'ZNF180', 'score': 12.44}, {'connected_gene': 'NKPD1', 'score': 2.27}, {'connected_gene': 'NANOS2', 'score': 2.03}, {'connected_gene': 'EXOC3L2', 'score': 1.7}]
chr19	GH19I045250	45250689	45253580	2.22	[{'connected_gene': 'MARK4', 'score': 570.57}, {'connected_gene': 'ZNF235', 'score': 30.24}, {'connected_gene': 'MRPS15P2', 'score': 17.63}, {'connected_gene': 'ZNF180', 'score': 17.32}, {'connected_gene': 'ZNF285', 'score': 14.85}, {'connected_gene': 'IRF2BP1', 'score': 12.94}, {'connected_gene': 'ZNF112', 'score': 12.57}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'ENSG00000267114', 'score': 10.25}, {'connected_gene': 'RELB', 'score': 9.95}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'VASP', 'score': 2.97}, {'connected_gene': 'CLASRP', 'score': 1.63}, {'connected_gene': 'EXOC3L2', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.22}]
chr19	GH19I045272	45272327	45273912	0.99	[{'connected_gene': 'MARK4', 'score': 11.14}, {'connected_gene': 'EXOC3L2', 'score': 0.31}, {'connected_gene': 'GC19M045307', 'score': 0.29}]
chr19	GH19I045283	45283203	45284400	0.96	[{'connected_gene': 'MARK4', 'score': 45.41}, {'connected_gene': 'ZNF180', 'score': 21.8}, {'connected_gene': 'CCDC61', 'score': 16.22}, {'connected_gene': 'CLASRP', 'score': 13.36}, {'connected_gene': 'SYMPK', 'score': 12.66}, {'connected_gene': 'QPCTL', 'score': 12.17}, {'connected_gene': 'ZNF235', 'score': 10.78}, {'connected_gene': 'MRPS15P2', 'score': 10.0}, {'connected_gene': 'DM1-AS', 'score': 9.97}, {'connected_gene': 'ENSG00000269148', 'score': 9.68}, {'connected_gene': 'GC19M045307', 'score': 0.34}, {'connected_gene': 'EXOC3L2', 'score': 0.28}]
chr19	GH19I045310	45310033	45310975	0.43	[{'connected_gene': 'MARK4', 'score': 30.65}, {'connected_gene': 'KLC3', 'score': 12.75}, {'connected_gene': 'RPS16P9', 'score': 12.75}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.49}, {'connected_gene': 'PPP1R13L', 'score': 10.49}, {'connected_gene': 'GC19M045307', 'score': 0.77}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19	GH19I045276	45276228	45276992	0.65	[{'connected_gene': 'MARK4', 'score': 15.52}, {'connected_gene': 'CLASRP', 'score': 13.18}, {'connected_gene': 'CCDC61', 'score': 12.56}, {'connected_gene': 'ZNF180', 'score': 12.44}, {'connected_gene': 'EXOC3L2', 'score': 0.29}, {'connected_gene': 'GC19M045307', 'score': 0.29}]
chr19	GH19I045629	45629628	45633344	1.37	[{'connected_gene': 'EML2', 'score': 9.64}, {'connected_gene': 'IGFL4', 'score': 4.85}, {'connected_gene': 'NKPD1', 'score': 2.06}, {'connected_gene': 'NANOS2', 'score': 1.93}, {'connected_gene': 'EXOC3L2', 'score': 1.48}, {'connected_gene': 'GC19M045633', 'score': 0.77}, {'connected_gene': 'PIR54112', 'score': 0.34}]
chr19	GH19I045313	45313082	45314419	0.66	[{'connected_gene': 'FBXO46', 'score': 13.65}, {'connected_gene': 'ZNF180', 'score': 13.24}, {'connected_gene': 'CCDC61', 'score': 12.15}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'SIX5', 'score': 9.77}, {'connected_gene': 'DMWD', 'score': 5.86}, {'connected_gene': 'CKM', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.44}]
chr19	GH19I045311	45311783	45312001	0.99	[{'connected_gene': 'KLC3', 'score': 12.75}, {'connected_gene': 'RPS16P9', 'score': 12.75}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'MARK4', 'score': 10.74}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'GC19M045307', 'score': 0.77}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19	GH19I045231	45231493	45232674	0.2	[{'connected_gene': 'CKM', 'score': 11.12}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'CD3EAP', 'score': 10.31}, {'connected_gene': 'PPP1R13L', 'score': 10.31}, {'connected_gene': 'RELB', 'score': 10.23}, {'connected_gene': 'CLASRP', 'score': 10.07}, {'connected_gene': 'LOC100420902', 'score': 0.77}, {'connected_gene': 'GC19M045193', 'score': 0.39}, {'connected_gene': 'EXOC3L2', 'score': 0.39}, {'connected_gene': 'GC19M045188', 'score': 0.26}, {'connected_gene': 'MARK4', 'score': 0.1}]
chr19	GH19I045234	45234234	45234293	0.73	[{'connected_gene': 'LOC100420902', 'score': 550.77}, {'connected_gene': 'EXOC3L2', 'score': 550.39}, {'connected_gene': 'GC19M045193', 'score': 0.39}, {'connected_gene': 'GC19M045188', 'score': 0.25}, {'connected_gene': 'MARK4', 'score': 0.1}]
chr19	GH19I045215	45215557	45216200	0.63	[{'connected_gene': 'LOC100420902', 'score': 0.37}, {'connected_gene': 'EXOC3L2', 'score': 0.31}, {'connected_gene': 'GC19M045188', 'score': 0.31}, {'connected_gene': 'GC19M045193', 'score': 0.31}, {'connected_gene': 'ENSG00000266958', 'score': 0.31}, {'connected_gene': 'BLOC1S3', 'score': 0.28}, {'connected_gene': 'MARK4', 'score': 0.12}]
chr19	GH19I045300	45300449	45301005	1.03	[{'connected_gene': 'GC19M045307', 'score': 0.44}, {'connected_gene': 'EXOC3L2', 'score': 0.22}, {'connected_gene': 'MARK4', 'score': 0.07}]
chr19	GH19I045307	45307843	45308312	0.92	[{'connected_gene': 'GC19M045307', 'score': 550.77}, {'connected_gene': 'MARK4', 'score': 16.5}, {'connected_gene': 'EXOC3L2', 'score': 10.98}, {'connected_gene': 'CD3EAP', 'score': 10.82}, {'connected_gene': 'PPP1R13L', 'score': 10.82}, {'connected_gene': 'CLASRP', 'score': 9.99}, {'connected_gene': 'RELB', 'score': 9.99}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19	GH19I045306	45306026	45307727	0.83	[{'connected_gene': 'GC19M045307', 'score': 550.77}, {'connected_gene': 'MARK4', 'score': 51.57}, {'connected_gene': 'ZNF180', 'score': 14.19}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'EXOC3L2', 'score': 10.98}, {'connected_gene': 'CD3EAP', 'score': 10.82}, {'connected_gene': 'PPP1R13L', 'score': 10.82}, {'connected_gene': 'SNRPD2', 'score': 10.82}, {'connected_gene': 'CLASRP', 'score': 9.99}, {'connected_gene': 'RELB', 'score': 9.99}, {'connected_gene': 'CCDC61', 'score': 9.66}, {'connected_gene': 'CKM', 'score': 0.37}]