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
ENST00000514529	[[132757234, 132757279], [132764745, 132764864], [132793158, 132793202], [132837881, 132838228]]	None
ENST00000321871	[[132757234, 132757279], [132764745, 132764864], [132948109, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133116636]]	[[132948155, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133114830]]
ENST00000393130	[[132757245, 132757279], [132764745, 132764864], [132948113, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133115072]]	[[132948155, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133114830]]
ENST00000514894	[[132757251, 132757279], [132764745, 132764864], [132948109, 132948195], [133097185, 133097400], [133098595, 133098970]]	[[133098702, 133098970]]
ENST00000512662	[[132757260, 132757279], [132764745, 132764864], [132793158, 132793202], [132948109, 132948195], [133022047, 133022181], [133098595, 133099067]]	[[133098702, 133099067]]
ENST00000512137	[[132760629, 132760699], [132764745, 132764864], [132948109, 132948195], [133098595, 133099001]]	[[132948155, 132948195], [133098595, 133099001]]
ENST00000511555	[[132838179, 132838352], [132839723, 132839799], [132948109, 132948195], [133098595, 133098770]]	[[132948155, 132948195], [133098595, 133098770]]
ENST00000508711	[[132843670, 132843993], [132948109, 132948195], [133109023, 133109178], [133114707, 133116613]]	[[132948155, 132948195], [133109023, 133109178], [133114707, 133114830]]
ENST00000515826	[[132843916, 132843993], [132948109, 132948195], [133098595, 133100005], [133105267, 133108527]]	[[132948155, 132948195], [133098595, 133100005], [133105267, 133105284]]
ENST00000510183	[[132911618, 132911671], [132948113, 132948195], [133098595, 133099015]]	[[132948155, 132948195], [133098595, 133099015]]
ENST00000511388	[[133098560, 133100005], [133109023, 133109178], [133114707, 133115036]]	None
NM_001136469	[[132757131, 132757279], [132764745, 132764864], [132948113, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133116619]]	[[132948155, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133114830]]
NM_023943	[[132757131, 132757279], [132764745, 132764864], [132948109, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133116619]]	[[132948155, 132948195], [133098595, 133100005], [133109023, 133109178], [133114707, 133114830]]
NM_001282865	[[132843664, 132843993], [132948109, 132948195], [133109023, 133109178], [133114707, 133116619]]	[[132948155, 132948195], [133109023, 133109178], [133114707, 133114830]]

Promoter

Chrom	Start	End	Description
chr3	132757119	132757144	CAGE_peak_4_at_TMEM108_5end
chr3	132757184	132757209	CAGE_peak_2_at_TMEM108_5end
chr3	132757215	132757247	CAGE_peak_1_at_TMEM108_5end
chr3	132843652	132843709	CAGE_peak_3_at_TMEM108_5end
chr3	132843710	132843736	CAGE_peak_5_at_TMEM108_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I133041	133041194	133041966	0.69	[{'connected_gene': 'BFSP2', 'score': 10.6}, {'connected_gene': 'TMEM108', 'score': 0.77}, {'connected_gene': 'TMEM108-AS1', 'score': 0.08}]
chr3	GH03I133267	133267989	133269005	0.46	[{'connected_gene': 'BFSP2', 'score': 9.58}, {'connected_gene': 'TMEM108-AS1', 'score': 0.39}, {'connected_gene': 'GC03M133285', 'score': 0.29}, {'connected_gene': 'TMEM108', 'score': 0.07}]
chr3	GH03I133124	133124811	133124870	0.61	[{'connected_gene': 'TMEM108', 'score': 560.05}, {'connected_gene': 'ENSG00000249725', 'score': 10.05}, {'connected_gene': 'BFSP2', 'score': 9.62}, {'connected_gene': 'TMEM108-AS1', 'score': 0.12}]
chr3	GH03I133411	133411995	133414290	1.34	[{'connected_gene': 'TMEM108', 'score': 2.66}, {'connected_gene': 'SRPRB', 'score': 1.91}, {'connected_gene': 'ENSG00000249820', 'score': 0.77}, {'connected_gene': 'BFSP2', 'score': 0.39}, {'connected_gene': 'BFSP2-AS1', 'score': 0.26}]
chr3	GH03I132782	132782539	132784067	0.31	[{'connected_gene': 'TMEM108', 'score': 4.55}, {'connected_gene': 'LOC105374115', 'score': 0.34}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.21}, {'connected_gene': 'NPHP3-AS1', 'score': 0.21}, {'connected_gene': 'NPHP3', 'score': 0.21}]
chr3	GH03I133068	133068670	133068755	0.22	[{'connected_gene': 'TMEM108', 'score': 15.79}, {'connected_gene': 'ENSG00000249725', 'score': 11.01}, {'connected_gene': 'TMEM108-AS1', 'score': 10.3}, {'connected_gene': 'UBA5', 'score': 3.36}]
chr3	GH03I133181	133181006	133181065	0.5	[{'connected_gene': 'TMEM108', 'score': 550.11}, {'connected_gene': 'TMEM108-AS1', 'score': 10.11}]
chr3	GH03I133037	133037590	133039109	1.79	[{'connected_gene': 'TMEM108', 'score': 550.77}, {'connected_gene': 'ENSG00000249725', 'score': 550.77}, {'connected_gene': 'TMEM108-AS1', 'score': 0.08}]
chr3	GH03I132771	132771882	132773720	0.2	[{'connected_gene': 'NPHP3', 'score': 12.08}, {'connected_gene': 'BFSP2', 'score': 10.47}, {'connected_gene': 'TMEM108', 'score': 4.42}, {'connected_gene': 'LOC105374115', 'score': 0.29}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.23}]
chr3	GH03I132776	132776689	132777970	0.2	[{'connected_gene': 'NPHP3', 'score': 8.28}, {'connected_gene': 'TMEM108', 'score': 4.33}, {'connected_gene': 'LOC105374115', 'score': 0.31}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.22}]
chr3	GH03I133211	133211495	133212781	0.73	[{'connected_gene': 'TOPBP1', 'score': 15.24}, {'connected_gene': 'TMEM108-AS1', 'score': 10.64}, {'connected_gene': 'TMEM108', 'score': 0.09}]
chr3	GH03I133206	133206648	133207548	0.31	[{'connected_gene': 'TMEM108-AS1', 'score': 10.43}, {'connected_gene': 'BFSP2', 'score': 10.23}, {'connected_gene': 'TMEM108', 'score': 0.1}]
chr3	GH03I133284	133284179	133284670	0.31	[{'connected_gene': 'TMEM108-AS1', 'score': 11.79}, {'connected_gene': 'BFSP2', 'score': 10.09}, {'connected_gene': 'GC03M133285', 'score': 0.37}, {'connected_gene': 'TMEM108', 'score': 0.07}]
chr3	GH03I133158	133158729	133159474	0.57	[{'connected_gene': 'TMEM108-AS1', 'score': 9.97}, {'connected_gene': 'TMEM108', 'score': 0.13}]
chr3	GH03I133384	133384557	133384726	0.69	[{'connected_gene': 'LOC101927432', 'score': 550.77}, {'connected_gene': 'TMEM108', 'score': 11.0}, {'connected_gene': 'ENSG00000249725', 'score': 11.0}, {'connected_gene': 'TFP1', 'score': 10.28}, {'connected_gene': 'TMEM108-AS1', 'score': 9.72}, {'connected_gene': 'GC03M133285', 'score': 0.18}]
chr3	GH03I132867	132867566	132868641	0.38	[{'connected_gene': 'ENSG00000249725', 'score': 9.76}, {'connected_gene': 'TMEM108', 'score': 9.75}, {'connected_gene': 'NPHP3', 'score': 7.89}, {'connected_gene': 'GC03P132823', 'score': 0.26}, {'connected_gene': 'NPHP3-AS1', 'score': 0.11}]
chr3	GH03I132972	132972417	132972566	0.31	[{'connected_gene': 'ENSG00000249725', 'score': 10.02}, {'connected_gene': 'TMEM108', 'score': 10.01}, {'connected_gene': 'GC03P132823', 'score': 0.11}]
chr3	GH03I133300	133300448	133302394	0.46	[{'connected_gene': 'GC03M133285', 'score': 550.77}, {'connected_gene': 'TMEM108-AS1', 'score': 11.59}, {'connected_gene': 'TMEM108', 'score': 10.01}, {'connected_gene': 'ENSG00000249725', 'score': 10.01}]