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

Promoter

Chrom	Start	End	Description
chr9	34635766	34635779	CAGE_peak_4_at_SIGMAR1_5end
chr9	34635845	34635856	CAGE_peak_3_at_SIGMAR1_5end
chr9	34637718	34637791	CAGE_peak_1_at_SIGMAR1_5end
chr9	34637807	34637828	CAGE_peak_2_at_SIGMAR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I034430	34430863	34431012	0.52	[{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9	GH09I034431	34431083	34431232	0.59	[{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9	GH09I034645	34645955	34648591	2.06	[{'connected_gene': 'GALT', 'score': 568.66}, {'connected_gene': 'ENSG00000258728', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 11.18}, {'connected_gene': 'DCTN3', 'score': 11.12}, {'connected_gene': 'ENSG00000228352', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 5.74}, {'connected_gene': 'IL11RA', 'score': 0.77}]
chr9	GH09I034573	34573699	34575506	0.2	[{'connected_gene': 'GALT', 'score': 23.49}, {'connected_gene': 'ENSG00000232983', 'score': 13.56}, {'connected_gene': 'RPP25L', 'score': 11.62}, {'connected_gene': 'ENHO', 'score': 11.17}, {'connected_gene': 'ENSG00000230729', 'score': 11.0}, {'connected_gene': 'DCTN3', 'score': 10.42}, {'connected_gene': 'ARID3C', 'score': 10.4}, {'connected_gene': 'SIGMAR1', 'score': 10.37}, {'connected_gene': 'NUDT2', 'score': 4.49}, {'connected_gene': 'GC09P034579', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9	GH09I034636	34636627	34638973	2.01	[{'connected_gene': 'GALT', 'score': 567.81}, {'connected_gene': 'SIGMAR1', 'score': 558.0}, {'connected_gene': 'PIGO', 'score': 24.29}, {'connected_gene': 'ENSG00000228352', 'score': 15.59}, {'connected_gene': 'ENSG00000230074', 'score': 14.5}, {'connected_gene': 'ARID3C', 'score': 0.44}]
chr9	GH09I034501	34501873	34502439	0.54	[{'connected_gene': 'FAM219A', 'score': 17.03}, {'connected_gene': 'ENSG00000232983', 'score': 12.14}, {'connected_gene': 'CNTFR-AS1', 'score': 12.08}, {'connected_gene': 'DNAI1', 'score': 11.35}, {'connected_gene': 'RPP25L', 'score': 10.43}, {'connected_gene': 'ARID3C', 'score': 10.24}, {'connected_gene': 'SIGMAR1', 'score': 10.23}, {'connected_gene': 'GALT', 'score': 10.23}, {'connected_gene': 'PIR54959', 'score': 0.39}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9	GH09I034500	34500763	34500932	0.65	[{'connected_gene': 'FAM219A', 'score': 15.32}, {'connected_gene': 'ENSG00000230729', 'score': 11.66}, {'connected_gene': 'ENHO', 'score': 11.48}, {'connected_gene': 'DNAI1', 'score': 11.31}, {'connected_gene': 'ARID3C', 'score': 10.21}, {'connected_gene': 'SIGMAR1', 'score': 10.2}, {'connected_gene': 'GALT', 'score': 10.2}, {'connected_gene': 'PIR54959', 'score': 0.37}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9	GH09I034437	34437463	34437632	0.62	[{'connected_gene': 'FAM219A', 'score': 12.3}, {'connected_gene': 'NUDT2', 'score': 11.53}, {'connected_gene': 'ENSG00000230729', 'score': 11.31}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.62}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.28}]
chr9	GH09I034610	34610877	34613339	1.96	[{'connected_gene': 'RPP25L', 'score': 560.55}, {'connected_gene': 'GALT', 'score': 15.13}, {'connected_gene': 'SIGMAR1', 'score': 7.14}, {'connected_gene': 'CNTFR', 'score': 0.34}]
chr9	GH09I034631	34630478	34630586	0.64	[{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'MYORG', 'score': 3.9}, {'connected_gene': 'GALT', 'score': 2.01}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9	GH09I034628	34628600	34629678	0.7	[{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 15.28}, {'connected_gene': 'GALT', 'score': 11.82}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9	GH09I034630	34630841	34631034	0.56	[{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'DNAJB5', 'score': 5.29}, {'connected_gene': 'CNTFR', 'score': 3.43}, {'connected_gene': 'ENHO', 'score': 1.76}, {'connected_gene': 'PHF24', 'score': 1.62}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9	GH09I034513	34513530	34514025	0.49	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'FAM219A', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'FANCG', 'score': 5.0}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.28}]
chr9	GH09I034511	34511223	34511372	0.2	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.2}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'RPP25L', 'score': 10.84}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9	GH09I034512	34512701	34513518	0.73	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9	GH09I034514	34512543	34512692	0.67	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'NUDT2', 'score': 5.81}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9	GH09I034619	34619619	34621153	1.88	[{'connected_gene': 'DCTN3', 'score': 550.77}, {'connected_gene': 'UBAP2', 'score': 25.59}, {'connected_gene': 'FAM205A', 'score': 12.03}, {'connected_gene': 'RPP25L', 'score': 11.83}, {'connected_gene': 'C9orf131', 'score': 10.73}, {'connected_gene': 'ATP8B5P', 'score': 10.3}, {'connected_gene': 'VCP', 'score': 10.1}, {'connected_gene': 'SIGMAR1', 'score': 6.85}]
chr9	GH09I034633	34633984	34634153	0.72	[{'connected_gene': 'SIGMAR1', 'score': 0.77}, {'connected_gene': 'ARID3C', 'score': 0.44}]
chr9	GH09I034635	34635801	34636200	0.2	[{'connected_gene': 'SIGMAR1', 'score': 550.77}, {'connected_gene': 'ARID3C', 'score': 0.44}]
chr9	GH09I034662	34662238	34667286	2.41	[{'connected_gene': 'ENSG00000230074', 'score': 572.11}, {'connected_gene': 'LOC730098', 'score': 550.77}, {'connected_gene': 'ENSG00000261215', 'score': 550.77}, {'connected_gene': 'CCL27', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 16.08}, {'connected_gene': 'ENSG00000228352', 'score': 11.27}, {'connected_gene': 'RPP25L', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.49}, {'connected_gene': 'SIGMAR1', 'score': 4.78}]
chr9	GH09I034575	34575665	34580790	0.77	[{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000378892	[[34634718, 34635855], [34636993, 34637086], [34637216, 34637729]]	[[34635628, 34635855], [34636993, 34637086], [34637216, 34637301]]
ENST00000353468	[[34634718, 34635855], [34636993, 34637086], [34637263, 34637417], [34637543, 34637741]]	[[34637070, 34637086], [34637263, 34637417], [34637543, 34637694]]
ENST00000277010	[[34634718, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637768]]	[[34635628, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637694]]
ENST00000477726	[[34635479, 34635855], [34637216, 34637417], [34637543, 34637806]]	[[34635628, 34635855], [34637216, 34637417], [34637543, 34637694]]
ENST00000461426	[[34635493, 34635855], [34637216, 34637793]]	None
ENST00000497006	[[34635806, 34635855], [34636993, 34637417], [34637543, 34637680]]	None
ENST00000478146	[[34636747, 34637086], [34637263, 34637409]]	None
NM_001282208	[[34634718, 34635855], [34636993, 34637109], [34637216, 34637417], [34637543, 34637823]]	[[34635843, 34635855], [34636993, 34637109], [34637216, 34637417], [34637543, 34637694]]
NM_005866	[[34634718, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637823]]	[[34635628, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637694]]
NM_001282205	[[34634718, 34635637], [34636993, 34637086], [34637216, 34637417], [34637543, 34637823]]	[[34635614, 34635637], [34636993, 34637086], [34637216, 34637417], [34637543, 34637694]]
NM_147157	[[34634718, 34635855], [34637216, 34637417], [34637543, 34637823]]	[[34635628, 34635855], [34637216, 34637417], [34637543, 34637694]]
NM_001282206	[[34634718, 34635855], [34636993, 34637086], [34637263, 34637417], [34637543, 34637823]]	[[34635628, 34635855], [34636993, 34637086], [34637263, 34637315]]
NM_001282209	[[34634718, 34635855], [34637263, 34637417], [34637543, 34637823]]	[[34635827, 34635855], [34637263, 34637417], [34637543, 34637694]]
NR_104108	[[34634718, 34635855], [34636993, 34637086], [34637329, 34637417], [34637543, 34637823]]	None
NM_001282207	[[34634718, 34635855], [34636993, 34637086], [34637216, 34637417], [34637603, 34637823]]	[[34635628, 34635855], [34636993, 34637086], [34637216, 34637417], [34637603, 34637694]]