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
NM_013270	[[46753605, 46753972], [46754390, 46754557], [46755707, 46755991], [46757024, 46757187], [46758926, 46759127], [46759208, 46759373]]	[[46753735, 46753972], [46754390, 46754557], [46755707, 46755991], [46757024, 46757187], [46758926, 46759127], [46759208, 46759314]]

Promoter

Chrom	Start	End	Description
chr3	46759327	46759340	CAGE_peak_2_at_PRSS50_5end
chr3	46759346	46759363	CAGE_peak_3_at_PRSS50_5end
chr3	46775607	46775608	CAGE_peak_6_at_PRSS50_5end
chr3	46777911	46777952	CAGE_peak_2_at_PRSS46_5end,CAGE_peak_4_at_PRSS50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I046564	46564610	46567409	2.06	[{'connected_gene': 'LRRC2', 'score': 594.83}, {'connected_gene': 'LTF', 'score': 11.5}, {'connected_gene': 'RTP3', 'score': 11.37}, {'connected_gene': 'PRSS50', 'score': 7.61}, {'connected_gene': 'PRSS46P', 'score': 7.44}, {'connected_gene': 'CCRL2', 'score': 5.43}, {'connected_gene': 'SCAP', 'score': 4.08}, {'connected_gene': 'LRRC2-AS1', 'score': 0.44}, {'connected_gene': 'TDGF1', 'score': 0.44}]
chr3	GH03I046811	46811728	46812900	1.14	[{'connected_gene': 'PRSS44', 'score': 550.77}, {'connected_gene': 'PRSS43', 'score': 550.77}, {'connected_gene': 'ENSG00000284672', 'score': 550.77}, {'connected_gene': 'PRSS50', 'score': 11.01}, {'connected_gene': 'ENSG00000238013', 'score': 0.39}]
chr3	GH03I046844	46844579	46847183	1.28	[{'connected_gene': 'PRSS45', 'score': 27.12}, {'connected_gene': 'ALS2CL', 'score': 16.04}, {'connected_gene': 'PTH1R', 'score': 12.82}, {'connected_gene': 'MYL3', 'score': 12.8}, {'connected_gene': 'PRSS44', 'score': 11.73}, {'connected_gene': 'PRSS50', 'score': 11.5}, {'connected_gene': 'LRRC2', 'score': 4.41}, {'connected_gene': 'PRSS42', 'score': 0.39}]
chr3	GH03I046699	46699720	46700400	0.77	[{'connected_gene': 'PRSS45', 'score': 10.88}, {'connected_gene': 'ALS2CL', 'score': 4.68}, {'connected_gene': 'TMIE', 'score': 0.44}, {'connected_gene': 'PRSS50', 'score': 0.37}]
chr3	GH03I047522	47522002	47522601	1.2	[{'connected_gene': 'PRSS50', 'score': 5.57}, {'connected_gene': 'ZNF589', 'score': 4.98}, {'connected_gene': 'KLHL18', 'score': 4.88}, {'connected_gene': 'ELP6', 'score': 0.44}, {'connected_gene': 'LOC105377074', 'score': 0.39}]
chr3	GH03I046717	46717833	46717892	0.92	[{'connected_gene': 'PRSS50', 'score': 550.77}, {'connected_gene': 'PRSS45', 'score': 4.43}, {'connected_gene': 'TMIE', 'score': 0.34}]
chr3	GH03I046872	46872184	46872539	0.42	[{'connected_gene': 'PRSS50', 'score': 31.8}, {'connected_gene': 'PRSS46P', 'score': 31.09}, {'connected_gene': 'KIF9', 'score': 3.54}, {'connected_gene': 'PTH1R', 'score': 0.44}, {'connected_gene': 'MYL3', 'score': 0.44}, {'connected_gene': 'PRSS42', 'score': 0.28}]
chr3	GH03I046724	46724918	46726560	0.38	[{'connected_gene': 'SETD2', 'score': 18.14}, {'connected_gene': 'PRSS45', 'score': 11.65}, {'connected_gene': 'PRSS50', 'score': 10.1}, {'connected_gene': 'RN7SL145P', 'score': 9.98}, {'connected_gene': 'PTPN23', 'score': 9.71}, {'connected_gene': 'PRSS46P', 'score': 5.71}]
chr3	GH03I046700	46700805	46701958	1.09	[{'connected_gene': 'TMIE', 'score': 550.44}, {'connected_gene': 'PRSS45', 'score': 12.56}, {'connected_gene': 'PRSS50', 'score': 7.35}, {'connected_gene': 'ALS2CL', 'score': 4.81}]
chr3	GH03I046705	46705111	46705260	0.76	[{'connected_gene': 'TMIE', 'score': 0.39}, {'connected_gene': 'PRSS50', 'score': 0.39}]
chr3	GH03I046690	46690391	46697596	2.27	[{'connected_gene': 'ALS2CL', 'score': 567.82}, {'connected_gene': 'TMIE', 'score': 550.77}, {'connected_gene': 'PRSS50', 'score': 7.29}, {'connected_gene': 'LRRC2', 'score': 6.46}, {'connected_gene': 'PRSS45', 'score': 6.1}]
chr3	GH03I047016	47016125	47019975	1.13	[{'connected_gene': 'NBEAL2', 'score': 24.6}, {'connected_gene': 'PTH1R', 'score': 17.39}, {'connected_gene': 'CCDC12', 'score': 12.15}, {'connected_gene': 'MYL3', 'score': 10.83}, {'connected_gene': 'PRSS45', 'score': 5.07}, {'connected_gene': 'PRSS50', 'score': 5.05}, {'connected_gene': 'NRADDP', 'score': 0.44}, {'connected_gene': 'MRPL57P3', 'score': 0.39}, {'connected_gene': 'SETD2', 'score': 0.11}]