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
ENST00000594297	[[46367246, 46367449], [46375332, 46375667]]	[[46375362, 46375667]]
ENST00000302177	[[46367517, 46367783], [46375332, 46377055]]	[[46367714, 46367783], [46375332, 46376316]]
NM_004497	[[46367517, 46367783], [46375332, 46377055]]	[[46367714, 46367783], [46375332, 46376316]]

Promoter

Chrom	Start	End	Description
chr19	46367556	46367567	CAGE_peak_2_at_FOXA3_5end
chr19	46367576	46367592	CAGE_peak_1_at_FOXA3_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	GH19I045994	45994443	45996287	2.02	[{'connected_gene': 'CCDC61', 'score': 571.54}, {'connected_gene': 'ENSG00000268810', 'score': 23.81}, {'connected_gene': 'SYMPK', 'score': 21.06}, {'connected_gene': 'FOXA3', 'score': 10.76}, {'connected_gene': 'QPCTL', 'score': 10.44}, {'connected_gene': 'CD3EAP', 'score': 4.88}, {'connected_gene': 'NOVA2', 'score': 0.34}]
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	GH19I045880	45880564	45884092	1.56	[{'connected_gene': 'CCDC61', 'score': 21.66}, {'connected_gene': 'FBXO46', 'score': 17.73}, {'connected_gene': 'CLASRP', 'score': 15.83}, {'connected_gene': 'ENSG00000268810', 'score': 15.45}, {'connected_gene': 'ENSG00000269148', 'score': 13.57}, {'connected_gene': 'SYMPK', 'score': 12.57}, {'connected_gene': 'IRF2BP1', 'score': 6.58}, {'connected_gene': 'FOXA3', 'score': 1.96}, {'connected_gene': 'OPA3', 'score': 1.8}, {'connected_gene': 'GIPR', 'score': 1.24}, {'connected_gene': 'GC19M045838', 'score': 0.44}]
chr19	GH19I046082	46082350	46083412	0.64	[{'connected_gene': 'HIF3A', 'score': 10.22}, {'connected_gene': 'SYMPK', 'score': 9.98}, {'connected_gene': 'FOXA3', 'score': 9.98}, {'connected_gene': 'IGFL2', 'score': 0.77}, {'connected_gene': 'PIR37387', 'score': 0.77}, {'connected_gene': 'GC19P046096', 'score': 0.39}]
chr19	GH19I045690	45690854	45694090	2.08	[{'connected_gene': 'QPCTL', 'score': 571.56}, {'connected_gene': 'SNRPD2', 'score': 559.65}, {'connected_gene': 'CCDC61', 'score': 49.39}, {'connected_gene': 'ENSG00000268810', 'score': 41.55}, {'connected_gene': 'SYMPK', 'score': 39.65}, {'connected_gene': 'FBXO46', 'score': 25.45}, {'connected_gene': 'CLASRP', 'score': 24.19}, {'connected_gene': 'ENSG00000269148', 'score': 22.26}, {'connected_gene': 'ENSG00000267114', 'score': 21.1}, {'connected_gene': 'IRF2BP1', 'score': 11.62}, {'connected_gene': 'BHMG1', 'score': 11.07}, {'connected_gene': 'EML2', 'score': 11.01}, {'connected_gene': 'GPR4', 'score': 10.99}, {'connected_gene': 'OPA3', 'score': 10.99}, {'connected_gene': 'MIR330', 'score': 10.88}, {'connected_gene': 'DMWD', 'score': 10.45}, {'connected_gene': 'DM1-AS', 'score': 10.11}, {'connected_gene': 'FOXA3', 'score': 10.07}]
chr19	GH19I046078	46078683	46078812	0.62	[{'connected_gene': 'LOC400706', 'score': 550.77}, {'connected_gene': 'IGFL2', 'score': 550.77}, {'connected_gene': 'PIR37387', 'score': 550.77}, {'connected_gene': 'GC19P046077', 'score': 550.77}, {'connected_gene': 'IGFL4', 'score': 550.77}, {'connected_gene': 'HIF3A', 'score': 10.23}, {'connected_gene': 'SYMPK', 'score': 9.98}, {'connected_gene': 'FOXA3', 'score': 9.98}]
chr19	GH19I046077	46077401	46078038	1.34	[{'connected_gene': 'LOC400706', 'score': 550.77}, {'connected_gene': 'IGFL2', 'score': 550.77}, {'connected_gene': 'PIR37387', 'score': 550.77}, {'connected_gene': 'GC19P046077', 'score': 550.77}, {'connected_gene': 'IGFL4', 'score': 550.77}, {'connected_gene': 'IGFL3', 'score': 11.31}, {'connected_gene': 'HIF3A', 'score': 10.23}, {'connected_gene': 'SYMPK', 'score': 9.98}, {'connected_gene': 'FOXA3', 'score': 9.98}]
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	GH19I045868	45868566	45869006	0.38	[{'connected_gene': 'FOXA3', 'score': 0.77}, {'connected_gene': 'GC19M045838', 'score': 0.44}]
chr19	GH19I045706	45706165	45707839	0.79	[{'connected_gene': 'FBXO46', 'score': 12.06}, {'connected_gene': 'MIR642A', 'score': 11.96}, {'connected_gene': 'SYMPK', 'score': 10.35}, {'connected_gene': 'FOXA3', 'score': 10.35}, {'connected_gene': 'DMWD', 'score': 7.46}, {'connected_gene': 'PNMA8A', 'score': 4.67}, {'connected_gene': 'PIR45336', 'score': 0.77}, {'connected_gene': 'SNRPD2', 'score': 0.39}]
chr19	GH19I045774	45774883	45775032	0.69	[{'connected_gene': 'FBXO46', 'score': 11.22}, {'connected_gene': 'BHMG1', 'score': 11.19}, {'connected_gene': 'SYMPK', 'score': 11.07}, {'connected_gene': 'FOXA3', 'score': 11.07}, {'connected_gene': 'GC19M045770', 'score': 0.77}, {'connected_gene': 'DMPK', '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	GH19I045777	45777632	45778959	0.38	[{'connected_gene': 'DMPK', 'score': 12.49}, {'connected_gene': 'FBXO46', 'score': 11.2}, {'connected_gene': 'BHMG1', 'score': 11.19}, {'connected_gene': 'SYMPK', 'score': 11.08}, {'connected_gene': 'FOXA3', 'score': 11.07}, {'connected_gene': 'GC19M045770', 'score': 0.44}]
chr19	GH19I045798	45798898	45799758	1.02	[{'connected_gene': 'CLASRP', 'score': 17.82}, {'connected_gene': 'DMWD', 'score': 17.61}, {'connected_gene': 'CCDC61', 'score': 15.89}, {'connected_gene': 'ENSG00000269148', 'score': 15.03}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'SIX5', 'score': 12.03}, {'connected_gene': 'SYMPK', 'score': 11.35}, {'connected_gene': 'FOXA3', 'score': 11.35}, {'connected_gene': 'FBXO46', 'score': 10.26}, {'connected_gene': 'PIR50651', 'score': 0.77}, {'connected_gene': 'GC19M045805', 'score': 0.77}, {'connected_gene': 'RSPH6A', 'score': 0.37}]
chr19	GH19I045763	45763752	45773931	2.52	[{'connected_gene': 'DM1-AS', 'score': 558.07}, {'connected_gene': 'SIX5', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 45.41}, {'connected_gene': 'SYMPK', 'score': 37.8}, {'connected_gene': 'FBXO46', 'score': 33.33}, {'connected_gene': 'ENSG00000268810', 'score': 32.89}, {'connected_gene': 'CLASRP', 'score': 30.2}, {'connected_gene': 'ENSG00000267114', 'score': 29.25}, {'connected_gene': 'ENSG00000269148', 'score': 23.4}, {'connected_gene': 'DMWD', 'score': 16.86}, {'connected_gene': 'PPP1R13L', 'score': 14.32}, {'connected_gene': 'DMPK', 'score': 13.17}, {'connected_gene': 'IRF2BP1', 'score': 11.66}, {'connected_gene': 'BHMG1', 'score': 11.22}, {'connected_gene': 'FOXA3', 'score': 11.06}, {'connected_gene': 'BCAM', 'score': 10.96}, {'connected_gene': 'QPCTL', 'score': 10.57}, {'connected_gene': 'SNRPD2', 'score': 10.35}, {'connected_gene': 'PRKD2', 'score': 10.03}, {'connected_gene': 'FKRP', 'score': 5.55}, {'connected_gene': 'GC19M045770', 'score': 0.77}, {'connected_gene': 'ENSG00000259605', 'score': 0.77}]
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}]
chr19	GH19I045999	45999601	46001283	1.38	[{'connected_gene': 'GC19M045998', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 31.75}, {'connected_gene': 'CCDC61', 'score': 12.02}, {'connected_gene': 'CLASRP', 'score': 11.01}, {'connected_gene': 'SYMPK', 'score': 11.0}, {'connected_gene': 'FOXA3', 'score': 11.0}, {'connected_gene': 'QPCTL', 'score': 10.45}, {'connected_gene': 'PNMA8A', 'score': 3.3}, {'connected_gene': 'EML2', 'score': 3.01}, {'connected_gene': 'PNMA8B', 'score': 2.39}, {'connected_gene': 'NOVA2', 'score': 2.03}]
chr19	GH19I045715	45715902	45719276	1.61	[{'connected_gene': 'ENSG00000279407', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 23.79}, {'connected_gene': 'SNRPD2', 'score': 22.96}, {'connected_gene': 'CCDC61', 'score': 20.18}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'SIX5', 'score': 11.8}, {'connected_gene': 'DMWD', 'score': 11.22}, {'connected_gene': 'ENSG00000269148', 'score': 11.05}, {'connected_gene': 'CLASRP', 'score': 11.0}, {'connected_gene': 'FBXO46', 'score': 10.84}, {'connected_gene': 'RELB', 'score': 10.14}, {'connected_gene': 'SYMPK', 'score': 9.97}, {'connected_gene': 'FOXA3', 'score': 9.97}, {'connected_gene': 'BHMG1', 'score': 0.44}]
chr19	GH19I046079	46079933	46081797	0.49	[{'connected_gene': 'PIR37387', 'score': 550.77}, {'connected_gene': 'IGFL3', 'score': 12.14}, {'connected_gene': 'HIF3A', 'score': 10.23}, {'connected_gene': 'SYMPK', 'score': 9.98}, {'connected_gene': 'FOXA3', 'score': 9.98}, {'connected_gene': 'IGFL2', 'score': 0.77}, {'connected_gene': 'GC19P046077', 'score': 0.77}, {'connected_gene': 'GC19P046096', 'score': 0.37}]
chr19	GH19I045873	45873052	45874991	1.2	[{'connected_gene': 'GC19M045838', 'score': 550.77}, {'connected_gene': 'FBXO46', 'score': 13.71}, {'connected_gene': 'CCDC61', 'score': 12.25}, {'connected_gene': 'SLC1A5', 'score': 11.81}, {'connected_gene': 'SIX5', 'score': 9.87}, {'connected_gene': 'FOXA3', 'score': 0.39}]