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
ENST00000274457	[[114856607, 114861314], [114878646, 114879380], [114880219, 114880591]]	[[114860004, 114861314], [114878646, 114879190]]
NM_020177	[[114856607, 114861314], [114878646, 114879380], [114880219, 114880591]]	[[114860004, 114861314], [114878646, 114879190]]

Promoter

Chrom	Start	End	Description
chr5	114859674	114859721	CAGE_peak_4_at_FEM1C_5end
chr5	114878933	114878948	CAGE_peak_5_at_FEM1C_5end
chr5	114880355	114880393	CAGE_peak_2_at_FEM1C_5end
chr5	114880431	114880487	CAGE_peak_1_at_FEM1C_5end
chr5	114880533	114880554	CAGE_peak_3_at_FEM1C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I115422	115422593	115424882	0.8	[{'connected_gene': 'FEM1C', 'score': 5.95}, {'connected_gene': 'TRIM36', 'score': 4.41}, {'connected_gene': 'AK3P4', 'score': 0.34}, {'connected_gene': 'GC05M115471', 'score': 0.21}]
chr5	GH05I115531	115531801	115532000	0.43	[{'connected_gene': 'FEM1C', 'score': 0.39}, {'connected_gene': 'CCT5P1', 'score': 0.37}]
chr5	GH05I115582	115582892	115584234	0.52	[{'connected_gene': 'FEM1C', 'score': 11.86}, {'connected_gene': 'CCDC112', 'score': 11.24}, {'connected_gene': 'LOC101927100', 'score': 8.05}, {'connected_gene': 'TICAM2', 'score': 6.59}, {'connected_gene': 'TMED7', 'score': 4.8}, {'connected_gene': 'GC05P115578', 'score': 0.77}, {'connected_gene': 'TMED7-TICAM2', 'score': 0.26}]
chr5	GH05I115540	115540600	115545690	2.31	[{'connected_gene': 'FEM1C', 'score': 555.82}, {'connected_gene': 'SEMA6A-AS1', 'score': 37.15}, {'connected_gene': 'ENSG00000250015', 'score': 34.41}, {'connected_gene': 'ATG12', 'score': 19.19}, {'connected_gene': 'LOC101927100', 'score': 17.28}, {'connected_gene': 'TICAM2', 'score': 16.74}, {'connected_gene': 'PGGT1B', 'score': 10.69}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.51}, {'connected_gene': 'TMED7', 'score': 6.14}, {'connected_gene': 'CCT5P1', 'score': 0.29}]
chr5	GH05I115454	115454591	115459061	0.8	[{'connected_gene': 'FEM1C', 'score': 6.69}, {'connected_gene': 'GC05M115471', 'score': 0.31}, {'connected_gene': 'AK3P4', 'score': 0.23}]
chr5	GH05I115413	115413816	115416337	1.17	[{'connected_gene': 'FEM1C', 'score': 5.48}, {'connected_gene': 'AK3P4', 'score': 0.39}, {'connected_gene': 'GC05M115471', 'score': 0.19}]
chr5	GH05I115571	115571464	115571713	0.31	[{'connected_gene': 'FEM1C', 'score': 12.55}, {'connected_gene': 'GC05P115575', 'score': 0.77}]
chr5	GH05I115513	115513260	115513554	0.48	[{'connected_gene': 'CCT5P1', 'score': 550.77}, {'connected_gene': 'FEM1C', 'score': 0.29}]
chr5	GH05I115511	115511899	115512238	0.33	[{'connected_gene': 'CCT5P1', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 6.83}, {'connected_gene': 'FEM1C', 'score': 6.56}, {'connected_gene': 'ENSG00000249433', 'score': 0.37}]
chr5	GH05I115459	115459108	115463061	1.23	[{'connected_gene': 'TICAM2', 'score': 21.15}, {'connected_gene': 'FEM1C', 'score': 19.74}, {'connected_gene': 'PGGT1B', 'score': 2.27}, {'connected_gene': 'GC05M115471', 'score': 0.34}, {'connected_gene': 'AK3P4', 'score': 0.22}]
chr5	GH05I115418	115418061	115420684	1.12	[{'connected_gene': 'TICAM2', 'score': 15.24}, {'connected_gene': 'FEM1C', 'score': 13.46}, {'connected_gene': 'PGGT1B', 'score': 1.53}, {'connected_gene': 'AK3P4', 'score': 0.37}, {'connected_gene': 'GC05M115471', 'score': 0.2}]
chr5	GH05I115556	115556990	115560920	0.9	[{'connected_gene': 'TICAM2', 'score': 18.48}, {'connected_gene': 'LOC101927100', 'score': 17.45}, {'connected_gene': 'TMED7', 'score': 16.32}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.89}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.78}, {'connected_gene': 'FEM1C', 'score': 6.79}, {'connected_gene': 'GC05P115575', 'score': 0.37}]
chr5	GH05I115538	115538801	115539400	0.2	[{'connected_gene': 'TICAM2', 'score': 10.38}, {'connected_gene': 'LOC101927100', 'score': 10.38}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.33}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'CCT5P1', 'score': 0.31}]
chr5	GH05I115539	115539601	115539800	0.2	[{'connected_gene': 'TICAM2', 'score': 10.38}, {'connected_gene': 'LOC101927100', 'score': 10.38}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.33}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'CCT5P1', 'score': 0.31}]
chr5	GH05I115537	115537401	115537600	0.2	[{'connected_gene': 'TICAM2', 'score': 10.38}, {'connected_gene': 'LOC101927100', 'score': 10.38}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.33}, {'connected_gene': 'TMED7', 'score': 5.76}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'CCT5P1', 'score': 0.31}]
chr19	GH19I004744	4744536	4745658	0.98	[{'connected_gene': 'MIR7-3HG', 'score': 13.5}, {'connected_gene': 'MIR7-3', 'score': 13.48}, {'connected_gene': 'FEM1A', 'score': 13.41}, {'connected_gene': 'DPP9', 'score': 11.98}, {'connected_gene': 'PLIN3', 'score': 10.91}, {'connected_gene': 'GC19M004737', 'score': 0.34}, {'connected_gene': 'TRV-CAC3-1', 'score': 0.34}]
chr19	GH19I004741	4741992	4743436	0.68	[{'connected_gene': 'MIR7-3HG', 'score': 13.48}, {'connected_gene': 'MIR7-3', 'score': 13.48}, {'connected_gene': 'FEM1A', 'score': 13.41}, {'connected_gene': 'HDGFL2', 'score': 12.55}, {'connected_gene': 'PIAS4', 'score': 12.02}, {'connected_gene': 'PLIN3', 'score': 10.91}, {'connected_gene': 'GC19M004737', 'score': 0.37}, {'connected_gene': 'TRV-CAC3-1', 'score': 0.37}]
chr5	GH05I115549	115549244	115549433	0.68	[{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.25}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.77}, {'connected_gene': 'GC05P115575', 'score': 0.31}]
chr5	GH05I115551	115551004	115551943	0.62	[{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.26}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'GC05P115575', 'score': 0.34}]
chr19	GH19I004828	4828857	4833475	2.23	[{'connected_gene': 'TICAM1', 'score': 557.87}, {'connected_gene': 'GC19P004832', 'score': 550.77}, {'connected_gene': 'SAFB2', 'score': 16.45}, {'connected_gene': 'PLIN3', 'score': 12.17}, {'connected_gene': 'SAFB', 'score': 11.68}, {'connected_gene': 'ARRDC5', 'score': 11.63}, {'connected_gene': 'FEM1A', 'score': 11.59}, {'connected_gene': 'MIR7-3HG', 'score': 11.52}, {'connected_gene': 'MIR7-3', 'score': 11.52}, {'connected_gene': 'SNRPEP4', 'score': 10.55}, {'connected_gene': 'CCDC94', 'score': 10.33}, {'connected_gene': 'DUS3L', 'score': 10.27}, {'connected_gene': 'ENSG00000269807', 'score': 10.04}, {'connected_gene': 'DPP9-AS1', 'score': 9.98}, {'connected_gene': 'ENSG00000269604', 'score': 0.28}]
chr5	GH05I115869	115869325	115869690	0.53	[{'connected_gene': 'AP3S1', 'score': 11.95}, {'connected_gene': 'ATG12', 'score': 11.95}, {'connected_gene': 'LVRN', 'score': 10.89}, {'connected_gene': 'FEM1C', 'score': 2.45}, {'connected_gene': 'GC05M115886', 'score': 0.37}]
chr19	GH19I004799	4799486	4803099	0.93	[{'connected_gene': 'PLIN3', 'score': 11.93}, {'connected_gene': 'PTPRS', 'score': 9.18}, {'connected_gene': 'ENSG00000268536', 'score': 7.15}, {'connected_gene': 'TICAM1', 'score': 5.74}, {'connected_gene': 'MIR7-3HG', 'score': 5.21}, {'connected_gene': 'ENSG00000269604', 'score': 0.44}, {'connected_gene': 'FEM1A', 'score': 0.44}]
chr19	GH19I004790	4790601	4793104	2.3	[{'connected_gene': 'ENSG00000268536', 'score': 561.06}, {'connected_gene': 'FEM1A', 'score': 550.77}, {'connected_gene': 'GC19P004792', 'score': 550.77}, {'connected_gene': 'SAFB2', 'score': 19.84}, {'connected_gene': 'DUS3L', 'score': 13.8}, {'connected_gene': 'DPP9-AS1', 'score': 10.59}, {'connected_gene': 'ENSG00000267030', 'score': 10.42}, {'connected_gene': 'SNRPEP4', 'score': 10.41}, {'connected_gene': 'ENSG00000267255', 'score': 10.27}, {'connected_gene': 'CCDC94', 'score': 9.68}, {'connected_gene': 'ENSG00000269604', 'score': 0.77}]
chr5	GH05I115579	115579344	115579493	0.31	[{'connected_gene': 'GC05P115579', 'score': 550.77}, {'connected_gene': 'GC05P115578', 'score': 550.77}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'TICAM2', 'score': 11.68}, {'connected_gene': 'LOC101927100', 'score': 11.68}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.59}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7', 'score': 10.91}]
chr19	GH19I004794	4794063	4796071	0.63	[{'connected_gene': 'ENSG00000269604', 'score': 550.77}, {'connected_gene': 'ENSG00000268536', 'score': 8.67}, {'connected_gene': 'GC19P004792', 'score': 0.77}, {'connected_gene': 'FEM1A', 'score': 0.77}]
chr19	GH19I004793	4793436	4793600	0.51	[{'connected_gene': 'GC19P004792', 'score': 550.77}, {'connected_gene': 'FEM1A', 'score': 550.77}, {'connected_gene': 'ENSG00000269604', 'score': 0.77}]
chr5	GH05I115575	115575192	115576827	0.49	[{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 20.12}, {'connected_gene': 'LOC101927100', 'score': 19.32}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}, {'connected_gene': 'GC05P115579', 'score': 0.77}]
chr5	GH05I115450	115450241	115454160	0.74	[{'connected_gene': 'ENSG00000251118', 'score': 9.6}, {'connected_gene': 'RNU2-49P', 'score': 9.6}, {'connected_gene': 'FEM1C', 'score': 6.18}, {'connected_gene': 'GC05M115471', 'score': 0.29}, {'connected_gene': 'AK3P4', 'score': 0.25}]
chr5	GH05I115574	115574724	115574813	0.59	[{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'LOC101927100', 'score': 17.93}, {'connected_gene': 'FEM1C', 'score': 11.91}, {'connected_gene': 'TICAM2', 'score': 11.66}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}]