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
ENST00000441222	[[53457137, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53525281, 53525502]]	[[53463805, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53525281, 53525317]]
ENST00000451218	[[53460343, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53525281, 53525457]]	[[53463805, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53525281, 53525317]]
ENST00000503060	[[53462979, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53522462, 53522739], [53524340, 53524448], [53525281, 53525442]]	[[53524361, 53524448], [53525281, 53525317]]
ENST00000514536	[[53463632, 53463907], [53464734, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53524340, 53524448], [53525281, 53525465]]	[[53524361, 53524448], [53525281, 53525317]]
ENST00000508499	[[53463746, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53522462, 53522757]]	[[53463805, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53522462, 53522477]]
ENST00000502443	[[53492259, 53492414], [53494116, 53494533]]	None
ENST00000506707	[[53492294, 53492414], [53494116, 53494330], [53497230, 53497311], [53522619, 53522740]]	None
ENST00000512656	[[53494227, 53494330], [53495800, 53495852], [53497230, 53497311], [53522462, 53522693]]	[[53494307, 53494330], [53495800, 53495852], [53497230, 53497311], [53522462, 53522477]]
ENST00000504078	[[53497275, 53497311], [53517137, 53517255], [53521461, 53521589], [53522462, 53522753]]	None
NM_001134223	[[53457125, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53522462, 53522759]]	[[53463805, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53522462, 53522477]]
NM_001286768	[[53457125, 53463907], [53464734, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53524340, 53524448], [53525281, 53525502]]	[[53464766, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492397]]
NM_022832	[[53457125, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53525281, 53525502]]	[[53463805, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494330], [53497230, 53497311], [53525281, 53525317]]
NM_001286767	[[53457125, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494294], [53497230, 53497311], [53525281, 53525502]]	[[53463805, 53463907], [53464793, 53464872], [53468022, 53468220], [53470666, 53470750], [53476706, 53476783], [53492184, 53492414], [53494116, 53494294], [53497230, 53497311], [53525281, 53525317]]

Promoter

Chrom	Start	End	Description
chr4	53522703	53522711	CAGE_peak_5_at_USP46_5end
chr4	53525371	53525376	CAGE_peak_3_at_USP46_5end
chr4	53525396	53525403	CAGE_peak_2_at_USP46_5end
chr4	53525406	53525478	CAGE_peak_1_at_USP46_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I052912	52912470	52916162	0.63	[{'connected_gene': 'SNORA26', 'score': 10.56}, {'connected_gene': 'DANCR', 'score': 10.56}, {'connected_gene': 'USP46', 'score': 4.2}, {'connected_gene': 'LOC101928658', 'score': 0.37}, {'connected_gene': 'GC04M052884', 'score': 0.31}, {'connected_gene': 'SCFD2', 'score': 0.05}]
chr4	GH04I052995	52995175	52998757	1	[{'connected_gene': 'USP46', 'score': 9.92}, {'connected_gene': 'USP46-AS1', 'score': 9.92}, {'connected_gene': 'LNX1', 'score': 9.63}, {'connected_gene': 'LOC100506444', 'score': 9.63}, {'connected_gene': 'FIP1L1', 'score': 4.28}, {'connected_gene': 'LOC101928658', 'score': 0.2}, {'connected_gene': 'PIR32665', 'score': 0.17}, {'connected_gene': 'SCFD2', 'score': 0.05}]
chr4	GH04I052657	52657150	52660826	1.86	[{'connected_gene': 'USP46', 'score': 562.15}, {'connected_gene': 'USP46-AS1', 'score': 550.77}, {'connected_gene': 'RNU6-1252P', 'score': 0.1}]
chr4	GH04I052993	52993831	52994285	0.2	[{'connected_gene': 'USP46', 'score': 9.92}, {'connected_gene': 'USP46-AS1', 'score': 9.92}, {'connected_gene': 'LOC101928658', 'score': 0.21}, {'connected_gene': 'PIR32665', 'score': 0.17}, {'connected_gene': 'SCFD2', 'score': 0.05}]
chr4	GH04I052991	52991467	52991697	0.2	[{'connected_gene': 'USP46', 'score': 9.92}, {'connected_gene': 'USP46-AS1', 'score': 9.92}, {'connected_gene': 'LOC101928658', 'score': 0.21}, {'connected_gene': 'PIR32665', 'score': 0.16}, {'connected_gene': 'SCFD2', 'score': 0.05}]
chr4	GH04I052994	52994289	52994734	0.2	[{'connected_gene': 'USP46', 'score': 9.92}, {'connected_gene': 'USP46-AS1', 'score': 9.92}, {'connected_gene': 'LOC101928658', 'score': 0.21}, {'connected_gene': 'PIR32665', 'score': 0.17}, {'connected_gene': 'SCFD2', 'score': 0.05}]
chr4	GH04I052572	52572687	52574003	0.38	[{'connected_gene': 'USP46', 'score': 11.21}, {'connected_gene': 'USP46-AS1', 'score': 11.21}, {'connected_gene': 'LOC101928658', 'score': 10.37}, {'connected_gene': 'ERVMER34-1', 'score': 10.22}, {'connected_gene': 'ENSG00000212490', 'score': 10.22}, {'connected_gene': 'RNU6-1252P', 'score': 0.18}]
chr4	GH04I052588	52588086	52590110	0.8	[{'connected_gene': 'USP46', 'score': 21.75}, {'connected_gene': 'USP46-AS1', 'score': 10.88}, {'connected_gene': 'ENSG00000212490', 'score': 9.9}, {'connected_gene': 'ERVMER34-1', 'score': 9.9}, {'connected_gene': 'RNU6-1252P', 'score': 0.16}]
chr4	GH04I052640	52640516	52644368	1	[{'connected_gene': 'USP46', 'score': 11.74}, {'connected_gene': 'DANCR', 'score': 11.17}, {'connected_gene': 'SNORA26', 'score': 11.16}, {'connected_gene': 'RNU6-1252P', 'score': 0.11}]
chr4	GH04I052656	52656529	52656588	0.61	[{'connected_gene': 'USP46', 'score': 550.77}, {'connected_gene': 'RNU6-1252P', 'score': 0.1}]
chr4	GH04I052833	52833576	52839985	0.97	[{'connected_gene': 'DANCR', 'score': 7.8}, {'connected_gene': 'USP46', 'score': 7.61}, {'connected_gene': 'GC04P052827', 'score': 0.44}, {'connected_gene': 'GC04M052856', 'score': 0.34}]
chr4	GH04I052538	52538601	52538800	0.2	[{'connected_gene': 'RNU6-1252P', 'score': 0.26}, {'connected_gene': 'USP46', 'score': 0.13}]
chr4	GH04I052931	52931043	52932003	0.31	[{'connected_gene': 'LOC101928658', 'score': 550.77}, {'connected_gene': 'ERVMER34-1', 'score': 10.52}, {'connected_gene': 'ENSG00000212490', 'score': 10.51}, {'connected_gene': 'USP46', 'score': 4.14}, {'connected_gene': 'PIR32665', 'score': 0.1}, {'connected_gene': 'SCFD2', 'score': 0.04}]
chr4	GH04I052721	52721601	52723394	1.11	[{'connected_gene': 'ENSG00000248375', 'score': 550.77}, {'connected_gene': 'FIP1L1', 'score': 24.48}, {'connected_gene': 'ERVMER34-1', 'score': 10.92}, {'connected_gene': 'ENSG00000212490', 'score': 10.92}, {'connected_gene': 'USP46', 'score': 10.24}, {'connected_gene': 'RASL11B', 'score': 10.11}, {'connected_gene': 'GC04P052749', 'score': 0.31}]
chr4	GH04I052925	52925422	52926886	0.75	[{'connected_gene': 'ENSG00000212490', 'score': 9.99}, {'connected_gene': 'ERVMER34-1', 'score': 9.98}, {'connected_gene': 'USP46', 'score': 9.08}, {'connected_gene': 'LOC101928658', 'score': 0.77}, {'connected_gene': 'GC04M052884', 'score': 0.26}, {'connected_gene': 'SCFD2', 'score': 0.05}]