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
ENST00000322217	[[46393277, 46394581], [46404532, 46405083], [46405827, 46405862]]	[[46393880, 46394581], [46404532, 46405031]]
NM_001012643	[[46393280, 46394581], [46404532, 46405083], [46405827, 46405862]]	[[46393880, 46394581], [46404532, 46405031]]

Promoter

Chrom	Start	End	Description
chr19	46405861	46405886	CAGE_peak_1_at_MYPOP_5end
chr19	46405999	46406008	CAGE_peak_3_at_MYPOP_5end
chr19	46406027	46406036	CAGE_peak_4_at_MYPOP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045861	45861746	45867431	2.51	[{'connected_gene': 'SYMPK', 'score': 576.44}, {'connected_gene': 'FOXA3', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 48.14}, {'connected_gene': 'DMWD', 'score': 27.44}, {'connected_gene': 'CCDC61', 'score': 25.12}, {'connected_gene': 'CLASRP', 'score': 22.29}, {'connected_gene': 'ENSG00000267114', 'score': 20.39}, {'connected_gene': 'SLC1A5', 'score': 12.57}, {'connected_gene': 'FBXO46', 'score': 12.27}, {'connected_gene': 'IRF2BP1', 'score': 11.44}, {'connected_gene': 'MYPOP', 'score': 11.08}, {'connected_gene': 'SNRPD2', 'score': 10.86}, {'connected_gene': 'QPCTL', 'score': 10.48}, {'connected_gene': 'ENSG00000269148', 'score': 10.35}, {'connected_gene': 'RELB', 'score': 10.14}, {'connected_gene': 'ERCC1', 'score': 9.91}, {'connected_gene': 'DMPK', 'score': 7.29}, {'connected_gene': 'GC19M045838', 'score': 0.39}]
chr19	GH19I045927	45927303	45928417	1.23	[{'connected_gene': 'CCDC61', 'score': 40.95}, {'connected_gene': 'SYMPK', 'score': 34.19}, {'connected_gene': 'CLASRP', 'score': 32.18}, {'connected_gene': 'ENSG00000269148', 'score': 22.3}, {'connected_gene': 'ENSG00000268810', 'score': 19.02}, {'connected_gene': 'PNMA8A', 'score': 17.23}, {'connected_gene': 'PPP5D1', 'score': 14.77}, {'connected_gene': 'FBXO46', 'score': 14.11}, {'connected_gene': 'MYPOP', 'score': 12.68}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'IRF2BP1', 'score': 11.28}, {'connected_gene': 'FOXA3', 'score': 10.96}, {'connected_gene': 'PNMA8B', 'score': 10.82}, {'connected_gene': 'SNRPD2', 'score': 10.23}, {'connected_gene': 'NOVA2', 'score': 10.04}, {'connected_gene': 'DM1-AS', 'score': 10.02}, {'connected_gene': 'ENSG00000269124', 'score': 9.77}, {'connected_gene': 'FKRP', 'score': 4.67}, {'connected_gene': 'NANOS2', 'score': 0.39}, {'connected_gene': 'GC19M045925', 'score': 0.31}]
chr19	GH19I046295	46295845	46305236	2.62	[{'connected_gene': 'HIF3A', 'score': 565.97}, {'connected_gene': 'PPP5C', 'score': 20.92}, {'connected_gene': 'ENSG00000269124', 'score': 8.77}, {'connected_gene': 'FOSB', 'score': 5.26}, {'connected_gene': 'IGFL3', 'score': 4.57}, {'connected_gene': 'MYPOP', 'score': 1.82}, {'connected_gene': 'IRF2BP1', 'score': 1.58}, {'connected_gene': 'CCDC8', 'score': 1.49}, {'connected_gene': 'DACT3', 'score': 1.23}, {'connected_gene': 'GC19M046308', 'score': 0.44}, {'connected_gene': 'RNU6-924P', 'score': 0.44}]
chr19	GH19I045914	45914768	45914827	0.5	[{'connected_gene': 'NANOS2', 'score': 550.77}, {'connected_gene': 'SYMPK', 'score': 10.85}, {'connected_gene': 'FOXA3', 'score': 10.85}, {'connected_gene': 'DMWD', 'score': 10.14}, {'connected_gene': 'MYPOP', 'score': 0.39}]
chr19	GH19I045901	45901343	45903666	1.99	[{'connected_gene': 'MYPOP', 'score': 556.99}, {'connected_gene': 'IRF2BP1', 'score': 0.37}]
chr19	GH19I045893	45893401	45893800	0.52	[{'connected_gene': 'MYPOP', 'score': 0.44}, {'connected_gene': 'IRF2BP1', 'score': 0.44}]
chr19	GH19I045884	45884818	45888028	2.26	[{'connected_gene': 'IRF2BP1', 'score': 557.15}, {'connected_gene': 'SYMPK', 'score': 5.7}, {'connected_gene': 'MYPOP', 'score': 0.37}]
chr19	GH19I045894	45894993	45896597	1.04	[{'connected_gene': 'EML2', 'score': 9.16}, {'connected_gene': 'MYPOP', 'score': 0.44}, {'connected_gene': 'IRF2BP1', 'score': 0.44}]
chr19	GH19I045867	45867827	45868471	0.2	[{'connected_gene': 'DMWD', 'score': 11.14}, {'connected_gene': 'MYPOP', 'score': 11.1}, {'connected_gene': 'SYMPK', 'score': 8.58}, {'connected_gene': 'DMPK', 'score': 4.41}, {'connected_gene': 'FOXA3', 'score': 0.77}, {'connected_gene': 'GC19M045838', 'score': 0.44}]
chr19	GH19I045952	45952359	45957018	1.14	[{'connected_gene': 'GC19M045925', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 19.19}, {'connected_gene': 'MYPOP', 'score': 11.48}, {'connected_gene': 'MIR769', 'score': 11.28}, {'connected_gene': 'PGLYRP1', 'score': 11.27}, {'connected_gene': 'SYMPK', 'score': 11.01}, {'connected_gene': 'FOXA3', 'score': 11.01}, {'connected_gene': 'IGFL4', 'score': 10.12}, {'connected_gene': 'HIF3A', 'score': 9.88}, {'connected_gene': 'DMWD', 'score': 4.69}, {'connected_gene': 'ERCC1', 'score': 4.5}, {'connected_gene': 'NOVA2', 'score': 0.37}, {'connected_gene': 'NANOS2', 'score': 0.28}]