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
ENST00000487257	[[57542002, 57543414], [57545036, 57546664]]	[[57542106, 57543414], [57545036, 57545147]]
ENST00000311180	[[57542003, 57543414], [57545036, 57545115], [57545288, 57552571]]	[[57542106, 57543414], [57545036, 57545115], [57545288, 57545731]]
NM_177966	[[57541973, 57543414], [57545036, 57545115], [57545288, 57549274]]	[[57542106, 57543414], [57545036, 57545115], [57545288, 57545731]]
NM_001322177	[[57541973, 57543414], [57545036, 57549274]]	[[57542106, 57543414], [57545036, 57545147]]
NM_001322176	[[57541973, 57543414], [57545036, 57545115], [57640350, 57642207]]	[[57542106, 57543414], [57545036, 57545115], [57640350, 57640520]]

Promoter

Chrom	Start	End	Description
chr3	57541975	57542060	CAGE_peak_1_at_PDE12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I057199	57199802	57200582	1.06	[{'connected_gene': 'HESX1', 'score': 561.98}, {'connected_gene': 'GC03P057200', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 11.98}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.36}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03M057226', 'score': 0.31}]
chr3	GH03I057653	57653483	57653845	0.25	[{'connected_gene': 'SLMAP', 'score': 20.5}, {'connected_gene': 'DENND6A', 'score': 16.31}, {'connected_gene': 'DENND6A-AS1', 'score': 11.75}, {'connected_gene': 'DENND6A-DT', 'score': 11.39}, {'connected_gene': 'PDE12', 'score': 10.5}, {'connected_gene': 'ARF4', 'score': 8.99}]
chr3	GH03I057754	57754899	57759201	2.27	[{'connected_gene': 'SLMAP', 'score': 550.77}, {'connected_gene': 'DENND6A-DT', 'score': 11.46}, {'connected_gene': 'DENND6A', 'score': 11.46}, {'connected_gene': 'IL17RD', 'score': 5.76}, {'connected_gene': 'PDE12', 'score': 5.06}, {'connected_gene': 'DNAH12', 'score': 4.97}, {'connected_gene': 'ARF4', 'score': 4.96}, {'connected_gene': 'ENSG00000272202', 'score': 4.09}, {'connected_gene': 'GC03P057753', 'score': 0.77}, {'connected_gene': 'PDHA1P1', 'score': 0.26}]
chr3	GH03I058332	58332175	58336743	2.28	[{'connected_gene': 'PXK', 'score': 560.03}, {'connected_gene': 'DENND6A', 'score': 80.28}, {'connected_gene': 'FLNB-AS1', 'score': 53.9}, {'connected_gene': 'FLNB', 'score': 51.17}, {'connected_gene': 'KCTD6', 'score': 33.91}, {'connected_gene': 'RPP14', 'score': 24.15}, {'connected_gene': 'PDE12', 'score': 22.54}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.25}, {'connected_gene': 'ABHD6', 'score': 9.9}, {'connected_gene': 'ACOX2', 'score': 9.61}, {'connected_gene': 'ENSG00000272182', 'score': 7.51}, {'connected_gene': 'ENSG00000273493', 'score': 5.34}, {'connected_gene': 'LOC105377106', 'score': 0.37}]
chr3	GH03I057982	57982362	57985560	1.69	[{'connected_gene': 'PXK', 'score': 6.9}, {'connected_gene': 'FLNB-AS1', 'score': 6.07}, {'connected_gene': 'PDE12', 'score': 2.88}, {'connected_gene': 'GC03M057992', 'score': 0.44}, {'connected_gene': 'LOC105377104', 'score': 0.34}]
chr3	GH03I057169	57169801	57170601	1.36	[{'connected_gene': 'IL17RD', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 16.79}, {'connected_gene': 'HESX1', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.36}, {'connected_gene': 'ASB14', 'score': 9.91}, {'connected_gene': 'DNAH12', 'score': 9.84}, {'connected_gene': 'DENND6A-DT', 'score': 9.47}, {'connected_gene': 'DENND6A', 'score': 9.47}, {'connected_gene': 'SLMAP', 'score': 4.1}, {'connected_gene': 'LOC105377101', 'score': 0.37}]
chr3	GH03I057985	57985862	57986040	0.83	[{'connected_gene': 'PDHB', 'score': 6.15}, {'connected_gene': 'PDE12', 'score': 2.26}, {'connected_gene': 'PXK', 'score': 1.23}, {'connected_gene': 'GC03M057992', 'score': 0.44}, {'connected_gene': 'LOC105377104', 'score': 0.31}]
chr3	GH03I057110	57110720	57111534	0.49	[{'connected_gene': 'ARHGEF3', 'score': 11.6}, {'connected_gene': 'SPATA12', 'score': 11.2}, {'connected_gene': 'PDE12', 'score': 10.4}, {'connected_gene': 'APPL1', 'score': 10.17}, {'connected_gene': 'HESX1', 'score': 10.17}, {'connected_gene': 'ASB14', 'score': 10.07}, {'connected_gene': 'DNAH12', 'score': 10.03}, {'connected_gene': 'PIR43010', 'score': 0.39}, {'connected_gene': 'RPL19P2', 'score': 0.34}, {'connected_gene': 'IL17RD', 'score': 0.22}]
chr3	GH03I057582	57582578	57584166	0.65	[{'connected_gene': 'ARF4', 'score': 14.62}, {'connected_gene': 'PDE12', 'score': 11.68}, {'connected_gene': 'DENND6A-AS1', 'score': 10.49}, {'connected_gene': 'DENND6A-DT', 'score': 10.11}, {'connected_gene': 'DENND6A', 'score': 10.11}, {'connected_gene': 'GC03P057599', 'score': 0.39}]
chr3	GH03I057594	57594549	57600593	2.3	[{'connected_gene': 'ARF4', 'score': 565.34}, {'connected_gene': 'GC03P057599', 'score': 550.77}, {'connected_gene': 'ARF4-AS1', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 23.78}, {'connected_gene': 'FAM208A', 'score': 20.42}, {'connected_gene': 'DENND6A-AS1', 'score': 11.53}, {'connected_gene': 'PDE12', 'score': 11.29}, {'connected_gene': 'DENND6A-DT', 'score': 10.73}, {'connected_gene': 'APPL1', 'score': 9.85}, {'connected_gene': 'HESX1', 'score': 9.85}, {'connected_gene': 'FLNB', 'score': 9.84}, {'connected_gene': 'DNAH12', 'score': 5.55}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'IL17RD', 'score': 4.7}]
chr3	GH03I056921	56921305	56927423	1.38	[{'connected_gene': 'CCDC66', 'score': 19.54}, {'connected_gene': 'FAM208A', 'score': 16.8}, {'connected_gene': 'DENND6A', 'score': 15.75}, {'connected_gene': 'APPL1', 'score': 12.27}, {'connected_gene': 'ARHGEF3', 'score': 12.2}, {'connected_gene': 'PDE12', 'score': 10.88}, {'connected_gene': 'GC03M056906', 'score': 0.37}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.37}]
chr3	GH03I057196	57196401	57197599	0.62	[{'connected_gene': 'APPL1', 'score': 18.9}, {'connected_gene': 'HESX1', 'score': 11.96}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.35}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03P057200', 'score': 0.77}, {'connected_gene': 'GC03P057176', 'score': 0.34}]
chr3	GH03I056995	56995553	56995682	0.69	[{'connected_gene': 'APPL1', 'score': 12.39}, {'connected_gene': 'SPATA12', 'score': 12.26}, {'connected_gene': 'PDE12', 'score': 11.83}, {'connected_gene': 'ARHGEF3', 'score': 11.63}, {'connected_gene': 'CCDC66', 'score': 10.08}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.22}]
chr3	GH03I057016	57016649	57017924	1.42	[{'connected_gene': 'FLNB', 'score': 13.06}, {'connected_gene': 'APPL1', 'score': 12.4}, {'connected_gene': 'PDE12', 'score': 11.84}, {'connected_gene': 'SPATA12', 'score': 11.62}, {'connected_gene': 'ARHGEF3', 'score': 11.15}, {'connected_gene': 'CCDC66', 'score': 10.08}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.18}]
chr3	GH03I057943	57943401	57945148	0.92	[{'connected_gene': 'FLNB', 'score': 10.66}, {'connected_gene': 'FLNB-AS1', 'score': 10.3}, {'connected_gene': 'PDE12', 'score': 4.82}, {'connected_gene': 'ARF4', 'score': 4.32}, {'connected_gene': 'GC03P057941', 'score': 0.77}, {'connected_gene': 'LOC105377104', 'score': 0.37}]
chr3	GH03I057652	57652104	57652353	0.23	[{'connected_gene': 'DENND6A', 'score': 15.17}, {'connected_gene': 'SLMAP', 'score': 14.64}, {'connected_gene': 'DENND6A-DT', 'score': 11.77}, {'connected_gene': 'PDE12', 'score': 1.54}, {'connected_gene': 'DENND6A-AS1', 'score': 0.34}]
chr3	GH03I057576	57576376	57576528	0.62	[{'connected_gene': 'DENND6A', 'score': 19.77}, {'connected_gene': 'PDE12', 'score': 16.85}, {'connected_gene': 'APPL1', 'score': 11.67}, {'connected_gene': 'DENND6A-DT', 'score': 10.38}, {'connected_gene': 'HESX1', 'score': 9.6}, {'connected_gene': 'SLMAP', 'score': 4.09}, {'connected_gene': 'GC03P057599', 'score': 0.34}, {'connected_gene': 'ARF4', 'score': 0.34}]
chr3	GH03I057569	57569827	57569862	0.36	[{'connected_gene': 'DENND6A', 'score': 3.59}, {'connected_gene': 'PDE12', 'score': 1.93}, {'connected_gene': 'GC03P057599', 'score': 0.31}]
chr3	GH03I057579	57579251	57579633	0.26	[{'connected_gene': 'PDE12', 'score': 13.47}, {'connected_gene': 'SLMAP', 'score': 4.64}, {'connected_gene': 'DENND6A', 'score': 2.73}, {'connected_gene': 'GC03P057599', 'score': 0.37}, {'connected_gene': 'ARF4', 'score': 0.37}]
chr3	GH03I057555	57555074	57558445	2.11	[{'connected_gene': 'PDE12', 'score': 561.62}, {'connected_gene': 'GC03M057554', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 25.93}, {'connected_gene': 'APPL1', 'score': 22.1}, {'connected_gene': 'CCDC66', 'score': 16.81}, {'connected_gene': 'FAM208A', 'score': 16.28}, {'connected_gene': 'FLNB-AS1', 'score': 14.35}, {'connected_gene': 'FLNB', 'score': 13.57}, {'connected_gene': 'DENND6A-DT', 'score': 10.21}, {'connected_gene': 'HESX1', 'score': 9.88}, {'connected_gene': 'ARF4', 'score': 9.16}, {'connected_gene': 'ENSG00000272202', 'score': 4.59}, {'connected_gene': 'GC03P057599', 'score': 0.26}]
chr3	GH03I057593	57593601	57594000	0.31	[{'connected_gene': 'PDE12', 'score': 11.31}, {'connected_gene': 'DENND6A-AS1', 'score': 11.13}, {'connected_gene': 'DENND6A-DT', 'score': 10.24}, {'connected_gene': 'DENND6A', 'score': 10.24}, {'connected_gene': 'APPL1', 'score': 9.29}, {'connected_gene': 'HESX1', 'score': 9.29}, {'connected_gene': 'ARF4', 'score': 7.22}, {'connected_gene': 'GC03P057599', 'score': 0.77}]
chr3	GH03I057601	57601898	57602600	0.2	[{'connected_gene': 'DENND6A-AS1', 'score': 11.63}, {'connected_gene': 'DENND6A-DT', 'score': 11.0}, {'connected_gene': 'DENND6A', 'score': 11.0}, {'connected_gene': 'SLMAP', 'score': 4.65}, {'connected_gene': 'ARF4', 'score': 0.77}, {'connected_gene': 'GC03P057620', 'score': 0.37}, {'connected_gene': 'PDE12', 'score': 0.25}]
chr3	GH03I057957	57957905	57962899	1.73	[{'connected_gene': 'LOC105377104', 'score': 550.77}, {'connected_gene': 'DNASE1L3', 'score': 10.6}, {'connected_gene': 'FLNB', 'score': 7.15}, {'connected_gene': 'PXK', 'score': 4.15}, {'connected_gene': 'PDE12', 'score': 1.79}, {'connected_gene': 'GC03M057992', 'score': 0.29}]