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
ENST00000307365	[[74033677, 74033818], [74033914, 74034179], [74034452, 74035794]]	[[74033974, 74034179], [74034452, 74034946]]
ENST00000473155	[[74033682, 74034179], [74034452, 74034708]]	None
ENST00000471240	[[74033776, 74033818], [74033914, 74034393]]	None
NM_019058	[[74033676, 74033818], [74033914, 74034179], [74034452, 74035794]]	[[74033974, 74034179], [74034452, 74034946]]

Promoter

Chrom	Start	End	Description
chr10	74033672	74033688	CAGE_peak_1_at_DDIT4_5end
chr10	74033760	74033769	CAGE_peak_2_at_DDIT4_5end
chr10	74034090	74034110	CAGE_peak_3_at_DDIT4_5end
chr10	74034443	74034457	CAGE_peak_5_at_DDIT4_5end
chr10	74034624	74034637	CAGE_peak_12_at_DDIT4_5end
chr10	74034702	74034715	CAGE_peak_9_at_DDIT4_5end
chr10	74034722	74034775	CAGE_peak_6_at_DDIT4_5end
chr10	74035081	74035090	CAGE_peak_10_at_DDIT4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I071859	71859202	71863695	1.84	[{'connected_gene': 'PSAP', 'score': 10.53}, {'connected_gene': 'VSIR', 'score': 9.66}, {'connected_gene': 'DNAJB12', 'score': 5.7}, {'connected_gene': 'DDIT4', 'score': 3.36}, {'connected_gene': 'ENSG00000230526', 'score': 0.37}]
chr10	GH10I071844	71844912	71852977	2.55	[{'connected_gene': 'PSAP', 'score': 562.41}, {'connected_gene': 'VSIR', 'score': 12.85}, {'connected_gene': 'C10orf105', 'score': 10.32}, {'connected_gene': 'ANAPC16', 'score': 4.56}, {'connected_gene': 'MICU1', 'score': 4.46}, {'connected_gene': 'DDIT4', 'score': 1.3}, {'connected_gene': 'RNU7-38P', 'score': 0.77}]
chr10	GH10I071887	71887739	71892741	1.78	[{'connected_gene': 'PSAP', 'score': 22.33}, {'connected_gene': 'DNAJB12', 'score': 15.06}, {'connected_gene': 'CHST3', 'score': 9.87}, {'connected_gene': 'VSIR', 'score': 6.46}, {'connected_gene': 'DDIT4', 'score': 3.18}, {'connected_gene': 'ENSG00000230526', 'score': 0.39}, {'connected_gene': 'GC10M071945', 'score': 0.22}]
chr10	GH10I072567	72567023	72568200	1.07	[{'connected_gene': 'DNAJB12', 'score': 12.43}, {'connected_gene': 'MCU', 'score': 10.79}, {'connected_gene': 'DDIT4', 'score': 2.61}, {'connected_gene': 'ENSG00000230609', 'score': 0.44}, {'connected_gene': 'RN7SL840P', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.22}]
chr10	GH10I072562	72562602	72565183	1.12	[{'connected_gene': 'DNAJB12', 'score': 11.88}, {'connected_gene': 'MCU', 'score': 10.55}, {'connected_gene': 'CFAP70', 'score': 7.34}, {'connected_gene': 'DDIT4', 'score': 3.47}, {'connected_gene': 'ENSG00000230609', 'score': 0.77}, {'connected_gene': 'RN7SL840P', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.21}]
chr10	GH10I071867	71867681	71869030	1.63	[{'connected_gene': 'DNAJB12', 'score': 14.92}, {'connected_gene': 'PSAP', 'score': 14.23}, {'connected_gene': 'DDIT4', 'score': 2.94}, {'connected_gene': 'VSIR', 'score': 1.33}, {'connected_gene': 'ENSG00000230526', 'score': 0.39}]
chr10	GH10I072307	72307590	72311405	1.75	[{'connected_gene': 'DNAJB12', 'score': 31.09}, {'connected_gene': 'DDIT4', 'score': 19.46}, {'connected_gene': 'RPL17P50', 'score': 13.61}, {'connected_gene': 'ECD', 'score': 12.79}, {'connected_gene': 'ENSG00000200170', 'score': 11.09}, {'connected_gene': 'ANAPC16', 'score': 11.08}, {'connected_gene': 'ASCC1', 'score': 11.08}, {'connected_gene': 'PSAP', 'score': 10.72}, {'connected_gene': 'DDIT4-AS1', 'score': 0.29}]
chr10	GH10I072306	72306095	72306889	0.59	[{'connected_gene': 'DNAJB12', 'score': 17.26}, {'connected_gene': 'DDIT4', 'score': 12.73}, {'connected_gene': 'DDIT4-AS1', 'score': 0.29}]
chr10	GH10I072294	72294596	72299625	1.86	[{'connected_gene': 'DNAJB12', 'score': 52.53}, {'connected_gene': 'ECD', 'score': 30.46}, {'connected_gene': 'RPL17P50', 'score': 21.53}, {'connected_gene': 'PSAP', 'score': 13.33}, {'connected_gene': 'ENSG00000272630', 'score': 11.74}, {'connected_gene': 'DDIT4', 'score': 8.41}, {'connected_gene': 'DDIT4-AS1', 'score': 0.34}]
chr10	GH10I072258	72258318	72265284	1.82	[{'connected_gene': 'DNAJB12', 'score': 38.3}, {'connected_gene': 'ECD', 'score': 23.28}, {'connected_gene': 'RPL17P50', 'score': 20.91}, {'connected_gene': 'PSAP', 'score': 5.74}, {'connected_gene': 'ASCC1', 'score': 5.58}, {'connected_gene': 'NUDT13', 'score': 5.0}, {'connected_gene': 'DNAJC9', 'score': 4.04}, {'connected_gene': 'DDIT4', 'score': 3.61}, {'connected_gene': 'VSIR', 'score': 1.75}, {'connected_gene': 'GC10M072248', 'score': 0.39}]
chr10	GH10I072314	72314357	72326092	1.9	[{'connected_gene': 'DNAJB12', 'score': 66.38}, {'connected_gene': 'ECD', 'score': 57.55}, {'connected_gene': 'DDIT4', 'score': 21.83}, {'connected_gene': 'RPL17P50', 'score': 21.75}, {'connected_gene': 'ENSG00000227540', 'score': 20.62}, {'connected_gene': 'PSAP', 'score': 12.77}, {'connected_gene': 'FAM149B1', 'score': 12.54}, {'connected_gene': 'DNAJC9', 'score': 11.67}, {'connected_gene': 'ENSG00000272630', 'score': 10.9}, {'connected_gene': 'NUDT13', 'score': 4.66}, {'connected_gene': 'MICU1', 'score': 1.26}, {'connected_gene': 'DDIT4-AS1', 'score': 0.26}]
chr10	GH10I072326	72326602	72337892	1.84	[{'connected_gene': 'DNAJB12', 'score': 39.58}, {'connected_gene': 'ECD', 'score': 22.9}, {'connected_gene': 'ENSG00000227540', 'score': 21.6}, {'connected_gene': 'DNAJC9', 'score': 14.05}, {'connected_gene': 'RPL17P50', 'score': 12.75}, {'connected_gene': 'ENSG00000272599', 'score': 11.71}, {'connected_gene': 'DDIT4', 'score': 4.84}, {'connected_gene': 'PSAP', 'score': 4.42}, {'connected_gene': 'P4HA1', 'score': 3.83}, {'connected_gene': 'SPOCK2', 'score': 2.52}, {'connected_gene': 'DDIT4-AS1', 'score': 0.22}]
chr10	GH10I072511	72511001	72512200	0.61	[{'connected_gene': 'DNAJB12', 'score': 14.57}, {'connected_gene': 'MICU1', 'score': 12.56}, {'connected_gene': 'MCU', 'score': 10.7}, {'connected_gene': 'OIT3', 'score': 9.73}, {'connected_gene': 'CFAP70', 'score': 6.53}, {'connected_gene': 'DDIT4', 'score': 1.81}, {'connected_gene': 'ENSG00000226163', 'score': 0.44}, {'connected_gene': 'ENSG00000230609', 'score': 0.25}]
chr10	GH10I072270	72270498	72279035	2.36	[{'connected_gene': 'DDIT4', 'score': 550.77}, {'connected_gene': 'DDIT4-AS1', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 80.39}, {'connected_gene': 'ECD', 'score': 76.47}, {'connected_gene': 'ENSG00000227540', 'score': 36.27}, {'connected_gene': 'FAM149B1', 'score': 32.45}, {'connected_gene': 'RPL17P50', 'score': 23.61}, {'connected_gene': 'DNAJC9', 'score': 21.96}, {'connected_gene': 'ASCC1', 'score': 16.06}, {'connected_gene': 'ENSG00000272630', 'score': 11.74}, {'connected_gene': 'ENSG00000200170', 'score': 11.45}, {'connected_gene': 'ANAPC16', 'score': 11.44}, {'connected_gene': 'ENSG00000272599', 'score': 11.19}, {'connected_gene': 'CHST3', 'score': 10.14}, {'connected_gene': 'EIF4A2P2', 'score': 9.95}, {'connected_gene': 'NUDT13', 'score': 4.71}]
chr10	GH10I072344	72344241	72345152	0.79	[{'connected_gene': 'DDIT4', 'score': 11.84}, {'connected_gene': 'RNU6-805P', 'score': 10.39}, {'connected_gene': 'DNAJC9', 'score': 4.32}, {'connected_gene': 'DNAJB12', 'score': 0.39}, {'connected_gene': 'DDIT4-AS1', 'score': 0.2}]
chr10	GH10I072267	72267491	72268286	0.63	[{'connected_gene': 'DDIT4', 'score': 0.44}, {'connected_gene': 'GC10M072248', 'score': 0.37}]
chr10	GH10I072265	72265401	72266352	1.21	[{'connected_gene': 'ASCC1', 'score': 6.1}, {'connected_gene': 'DNAJC9', 'score': 4.04}, {'connected_gene': 'DDIT4', 'score': 0.44}, {'connected_gene': 'GC10M072248', 'score': 0.37}]
chr10	GH10I072238	72238050	72239070	0.4	[{'connected_gene': 'ANAPC16', 'score': 12.32}, {'connected_gene': 'ASCC1', 'score': 12.32}, {'connected_gene': 'DDIT4', 'score': 12.25}, {'connected_gene': 'DNAJB12', 'score': 12.21}, {'connected_gene': 'NUDT13', 'score': 4.41}, {'connected_gene': 'GC10M072248', 'score': 0.39}, {'connected_gene': 'ENSG00000200170', 'score': 0.37}]
chr10	GH10I072241	72241402	72258199	2	[{'connected_gene': 'GC10M072248', 'score': 550.77}, {'connected_gene': 'ECD', 'score': 93.21}, {'connected_gene': 'DNAJB12', 'score': 81.67}, {'connected_gene': 'RPL17P50', 'score': 28.14}, {'connected_gene': 'ENSG00000272599', 'score': 21.14}, {'connected_gene': 'ASCC1', 'score': 17.73}, {'connected_gene': 'DDIT4', 'score': 15.03}, {'connected_gene': 'CHST3', 'score': 12.95}, {'connected_gene': 'DNAJC9', 'score': 12.46}, {'connected_gene': 'ENSG00000200170', 'score': 12.29}, {'connected_gene': 'ANAPC16', 'score': 12.28}, {'connected_gene': 'ENSG00000272630', 'score': 11.15}, {'connected_gene': 'RPL15P14', 'score': 7.09}, {'connected_gene': 'NUDT13', 'score': 5.65}, {'connected_gene': 'SLC29A3', 'score': 5.61}, {'connected_gene': 'PSAP', 'score': 5.28}, {'connected_gene': 'MICU1', 'score': 4.1}, {'connected_gene': 'VSIR', 'score': 1.81}]