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
ENST00000275603	[[56119322, 56119678], [56120114, 56120178], [56122061, 56122196], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56131682]]	[[56119541, 56119678], [56120114, 56120178], [56122061, 56122196], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56130778]]
ENST00000335503	[[56119377, 56119678], [56120114, 56120178], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56131682]]	[[56119541, 56119678], [56120114, 56120178], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56130778]]
ENST00000540286	[[56119466, 56119571], [56119664, 56119678], [56120114, 56120178], [56122061, 56122196], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56131094]]	[[56119541, 56119571], [56119664, 56119678], [56120114, 56120178], [56122061, 56122196], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56130778]]
ENST00000493855	[[56122168, 56122196], [56123316, 56123549]]	None
ENST00000482776	[[56124004, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126703]]	None
ENST00000492618	[[56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129752]]	None
ENST00000466572	[[56127557, 56128109], [56128499, 56128633]]	None
ENST00000462133	[[56128303, 56128371], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56130992]]	None
ENST00000494736	[[56129370, 56129542], [56130375, 56130448], [56130705, 56130871]]	None
ENST00000466479	[[56130311, 56130448], [56130705, 56131313]]	None
NM_001009186	[[56119377, 56119678], [56120114, 56120178], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56131682]]	[[56119541, 56119678], [56120114, 56120178], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56130778]]
NM_001762	[[56119377, 56119678], [56120114, 56120178], [56122061, 56122196], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56131682]]	[[56119541, 56119678], [56120114, 56120178], [56122061, 56122196], [56123316, 56123490], [56124003, 56124107], [56125685, 56125796], [56126054, 56126214], [56126312, 56126395], [56127236, 56127333], [56127961, 56128109], [56128499, 56128633], [56129439, 56129542], [56130375, 56130448], [56130705, 56130778]]

Promoter

Chrom	Start	End	Description
chr7	56119449	56119492	CAGE_peak_1_at_CCT6A_5end
chr7	56119495	56119531	CAGE_peak_2_at_CCT6A_5end
chr7	56129386	56129391	CAGE_peak_3_at_CCT6A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I056049	56049862	56054191	2.07	[{'connected_gene': 'PSPH', 'score': 556.91}, {'connected_gene': 'CCT6A', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 25.86}, {'connected_gene': 'SUMF2', 'score': 21.28}, {'connected_gene': 'NIPSNAP2', 'score': 19.53}, {'connected_gene': 'LOC154937', 'score': 12.1}, {'connected_gene': 'PSPHP1', 'score': 11.8}, {'connected_gene': 'PIR60303', 'score': 0.77}, {'connected_gene': 'GC07P056054', 'score': 0.77}]
chr7	GH07I055962	55962044	55962427	0.49	[{'connected_gene': 'MRPS17', 'score': 1.78}, {'connected_gene': 'NIPSNAP2', 'score': 1.77}, {'connected_gene': 'CCT6A', 'score': 1.64}, {'connected_gene': 'PIR39528', 'score': 0.29}]
chr7	GH07I056104	56104955	56108123	2.33	[{'connected_gene': 'CHCHD2', 'score': 579.47}, {'connected_gene': 'SUMF2', 'score': 30.53}, {'connected_gene': 'LOC154937', 'score': 26.4}, {'connected_gene': 'CCT6A', 'score': 13.38}, {'connected_gene': 'NIPSNAP2', 'score': 12.53}, {'connected_gene': 'PSPHP1', 'score': 11.16}, {'connected_gene': 'ZNF713', 'score': 7.74}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7	GH07I056004	56004330	56011082	1.16	[{'connected_gene': 'NIPSNAP2', 'score': 22.25}, {'connected_gene': 'SUMF2', 'score': 21.39}, {'connected_gene': 'CCT6A', 'score': 12.45}, {'connected_gene': 'PHKG1', 'score': 11.67}, {'connected_gene': 'LOC154937', 'score': 11.38}, {'connected_gene': 'MRPS17', 'score': 11.06}, {'connected_gene': 'PSPHP1', 'score': 11.04}, {'connected_gene': 'ZNF713', 'score': 6.48}, {'connected_gene': 'NUPR2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.37}, {'connected_gene': 'PSPH', 'score': 0.26}]
chr7	GH07I056059	56059583	56065784	2.01	[{'connected_gene': 'SUMF2', 'score': 571.66}, {'connected_gene': 'NIPSNAP2', 'score': 24.79}, {'connected_gene': 'CHCHD2', 'score': 16.34}, {'connected_gene': 'PHKG1', 'score': 11.42}, {'connected_gene': 'PSPHP1', 'score': 11.14}, {'connected_gene': 'MRPS17', 'score': 10.21}, {'connected_gene': 'PSPH', 'score': 6.21}, {'connected_gene': 'SNORA15', 'score': 0.77}, {'connected_gene': 'GC07P056082', 'score': 0.77}, {'connected_gene': 'CCT6A', 'score': 0.39}]