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
ENST00000422380	[[70484517, 70484565], [70486491, 70486698], [70488343, 70488518], [70502090, 70502216]]	[[70486610, 70486698], [70488343, 70488518], [70502090, 70502216]]
ENST00000505044	[[70484841, 70485067], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70504712]]	[[70486610, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70504524]]
ENST00000414812	[[70484857, 70485067], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798]]	[[70486610, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798]]
ENST00000433351	[[70485268, 70485408], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70508323]]	[[70485296, 70485408], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70504524]]
ENST00000264441	[[70485280, 70485408], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70504151, 70506235]]	[[70485296, 70485408], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70504151, 70504174]]
ENST00000451279	[[70485550, 70485616], [70486491, 70486698], [70488343, 70488518], [70502090, 70502290]]	[[70486610, 70486698], [70488343, 70488518], [70502090, 70502290]]
ENST00000545138	[[70485550, 70485616], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70504925]]	[[70486613, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70504524]]
ENST00000480949	[[70501889, 70502302], [70502645, 70502798], [70503865, 70503919]]	None
NM_016297	[[70485230, 70485408], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70508317]]	[[70485296, 70485408], [70486491, 70486698], [70488343, 70488518], [70502090, 70502302], [70502645, 70502798], [70503865, 70504524]]

Promoter

Chrom	Start	End	Description
chr2	70485220	70485293	CAGE_peak_1_at_PCYOX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070300	70300702	70302698	2.03	[{'connected_gene': 'FAM136A', 'score': 564.37}, {'connected_gene': 'ENSG00000233849', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 14.6}, {'connected_gene': 'PCYOX1', 'score': 12.58}, {'connected_gene': 'TEX261', 'score': 12.35}]
chr2	GH02I070139	70139132	70144599	1.55	[{'connected_gene': 'TIA1', 'score': 25.75}, {'connected_gene': 'TEX261', 'score': 22.5}, {'connected_gene': 'MPHOSPH10', 'score': 12.82}, {'connected_gene': 'ANKRD53', 'score': 12.36}, {'connected_gene': 'CLEC4F', 'score': 12.29}, {'connected_gene': 'PCBP1-AS1', 'score': 11.46}, {'connected_gene': 'FAM136A', 'score': 11.26}, {'connected_gene': 'ASPRV1', 'score': 11.0}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'PCYOX1', 'score': 9.86}, {'connected_gene': 'LINC01816', 'score': 0.37}, {'connected_gene': 'GC02P070210', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I070328	70328549	70330648	0.95	[{'connected_gene': 'TGFA', 'score': 11.7}, {'connected_gene': 'FAM136A', 'score': 10.69}, {'connected_gene': 'PCYOX1', 'score': 10.09}, {'connected_gene': 'BRD7P6', 'score': 0.39}]
chr2	GH02I070291	70291167	70295237	2.1	[{'connected_gene': 'SNRPG', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 34.02}, {'connected_gene': 'CLEC4F', 'score': 32.44}, {'connected_gene': 'TEX261', 'score': 30.91}, {'connected_gene': 'TIA1', 'score': 28.03}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'PCYOX1', 'score': 13.45}, {'connected_gene': 'C2orf42', 'score': 11.83}, {'connected_gene': 'NAGK', 'score': 10.52}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.02}, {'connected_gene': 'GC02P070271', 'score': 0.34}]
chr2	GH02I070189	70189725	70191902	2.11	[{'connected_gene': 'C2orf42', 'score': 561.5}, {'connected_gene': 'TIA1', 'score': 24.78}, {'connected_gene': 'PCBP1-AS1', 'score': 12.67}, {'connected_gene': 'GMCL1', 'score': 11.76}, {'connected_gene': 'PCYOX1', 'score': 11.66}, {'connected_gene': 'MPHOSPH10', 'score': 11.07}, {'connected_gene': 'ASPRV1', 'score': 10.64}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'FAM136A', 'score': 10.27}, {'connected_gene': 'GC02P070210', 'score': 0.37}, {'connected_gene': 'LINC01816', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2	GH02I070260	70260184	70260744	0.76	[{'connected_gene': 'C2orf42', 'score': 9.96}, {'connected_gene': 'PCYOX1', 'score': 0.77}, {'connected_gene': 'GC02M070267', 'score': 0.44}]
chr2	GH02I070257	70257100	70259352	1.97	[{'connected_gene': 'PCYOX1', 'score': 559.95}, {'connected_gene': 'CLEC4F', 'score': 12.59}, {'connected_gene': 'PCBP1-AS1', 'score': 12.38}, {'connected_gene': 'GMCL1', 'score': 11.25}, {'connected_gene': 'TEX261', 'score': 10.6}, {'connected_gene': 'C2orf42', 'score': 10.16}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'GC02M070267', 'score': 0.44}]
chr2	GH02I070078	70078102	70079754	1.02	[{'connected_gene': 'PCYOX1', 'score': 9.43}, {'connected_gene': 'RN7SL470P', 'score': 0.77}, {'connected_gene': 'PCBP1', 'score': 0.44}, {'connected_gene': 'PCBP1-AS1', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070080	70080579	70092203	2.33	[{'connected_gene': 'PCBP1', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 48.73}, {'connected_gene': 'PCBP1-AS1', 'score': 45.64}, {'connected_gene': 'TEX261', 'score': 31.58}, {'connected_gene': 'CLEC4F', 'score': 21.97}, {'connected_gene': 'GMCL1', 'score': 21.25}, {'connected_gene': 'ANKRD53', 'score': 20.71}, {'connected_gene': 'C2orf42', 'score': 13.54}, {'connected_gene': 'MXD1', 'score': 11.24}, {'connected_gene': 'SNRNP27', 'score': 11.13}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'PCYOX1', 'score': 8.74}, {'connected_gene': 'ENSG00000233060', 'score': 0.77}, {'connected_gene': 'RN7SL470P', 'score': 0.39}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070045	70045970	70048640	1.03	[{'connected_gene': 'MXD1', 'score': 18.8}, {'connected_gene': 'PCBP1-AS1', 'score': 14.25}, {'connected_gene': 'ASPRV1', 'score': 11.94}, {'connected_gene': 'PCYOX1', 'score': 9.41}, {'connected_gene': 'PCBP1', 'score': 8.33}, {'connected_gene': 'GMCL1', 'score': 3.97}, {'connected_gene': 'RN7SL470P', 'score': 0.31}, {'connected_gene': 'PIR47967', 'score': 0.22}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070130	70130929	70138535	1.96	[{'connected_gene': 'PCBP1-AS1', 'score': 21.54}, {'connected_gene': 'TIA1', 'score': 20.06}, {'connected_gene': 'TEX261', 'score': 12.07}, {'connected_gene': 'FAM136A', 'score': 11.19}, {'connected_gene': 'CLEC4F', 'score': 11.15}, {'connected_gene': 'C2orf42', 'score': 10.23}, {'connected_gene': 'PCYOX1', 'score': 9.71}, {'connected_gene': 'MXD1', 'score': 2.33}, {'connected_gene': 'PCBP1', 'score': 1.95}, {'connected_gene': 'LINC01816', 'score': 0.44}, {'connected_gene': 'GC02P070210', 'score': 0.18}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I070107	70107202	70114496	1.82	[{'connected_gene': 'PCBP1-AS1', 'score': 22.46}, {'connected_gene': 'C2orf42', 'score': 15.48}, {'connected_gene': 'FAM136A', 'score': 12.2}, {'connected_gene': 'GMCL1', 'score': 11.77}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'SNRNP27', 'score': 10.3}, {'connected_gene': 'MXD1', 'score': 10.3}, {'connected_gene': 'PCYOX1', 'score': 8.07}, {'connected_gene': 'PCBP1', 'score': 1.75}, {'connected_gene': 'AAK1', 'score': 1.74}, {'connected_gene': 'GC02P070112', 'score': 0.77}, {'connected_gene': 'GC02P070113', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I070062	70062711	70064964	0.38	[{'connected_gene': 'ASPRV1', 'score': 11.69}, {'connected_gene': 'MXD1', 'score': 10.96}, {'connected_gene': 'SNRNP27', 'score': 10.76}, {'connected_gene': 'PCYOX1', 'score': 9.66}, {'connected_gene': 'RN7SL470P', 'score': 0.39}, {'connected_gene': 'PCBP1-AS1', 'score': 0.28}, {'connected_gene': 'PIR47967', 'score': 0.19}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I069893	69893337	69895460	2.08	[{'connected_gene': 'SNRNP27', 'score': 599.87}, {'connected_gene': 'TIA1', 'score': 22.16}, {'connected_gene': 'PCYOX1', 'score': 13.22}, {'connected_gene': 'ANTXR1', 'score': 12.77}, {'connected_gene': 'PCBP1-AS1', 'score': 11.76}, {'connected_gene': 'CLEC4F', 'score': 10.64}, {'connected_gene': 'MXD1', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.19}]
chr2	GH02I070120	70120869	70128400	2.23	[{'connected_gene': 'LINC01816', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 13.97}, {'connected_gene': 'ANKRD53', 'score': 12.46}, {'connected_gene': 'TEX261', 'score': 11.65}, {'connected_gene': 'FAM136A', 'score': 10.93}, {'connected_gene': 'PCYOX1', 'score': 9.84}, {'connected_gene': 'C2orf42', 'score': 9.81}, {'connected_gene': 'PCBP1-AS1', 'score': 9.49}, {'connected_gene': 'GC02P070121', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]