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
ENST00000525071	[[107661716, 107663519], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729680], [107730411, 107730572], [107779166, 107779280], [107798892, 107799019]]	[[107663384, 107663519], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729493]]
ENST00000429869	[[107663340, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729680], [107730411, 107730572], [107779166, 107779280], [107798892, 107799019]]	[[107663340, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729493]]
ENST00000525815	[[107661716, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729914]]	[[107663340, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729493]]
ENST00000265836	[[107663323, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107729383, 107729520]]	[[107663340, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677572]]
ENST00000533664	[[107663323, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107729383, 107729534]]	[[107682513, 107682520], [107729383, 107729493]]
ENST00000375682	[[107663340, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729226, 107729287]]	[[107663340, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686660]]
ENST00000532513	[[107663384, 107663526], [107673726, 107673881], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729493]]	[[107673814, 107673881], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729493]]
ENST00000524991	[[107677570, 107677602], [107682392, 107682520], [107686515, 107686691], [107711392, 107711476], [107729383, 107729525]]	[[107711475, 107711476], [107729383, 107729493]]
NM_017515	[[107661716, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729914]]	[[107663340, 107663526], [107673726, 107673881], [107675443, 107675496], [107676084, 107676241], [107677442, 107677602], [107682392, 107682520], [107686515, 107686691], [107729383, 107729493]]

Promoter

Chrom	Start	End	Description
chr11	107662885	107662888	CAGE_peak_2_at_SLC35F2_5end
chr11	107729290	107729310	CAGE_peak_6_at_SLC35F2_5end
chr11	107729504	107729539	CAGE_peak_1_at_SLC35F2_5end
chr11	107729543	107729569	CAGE_peak_4_at_SLC35F2_5end
chr11	107729584	107729605	CAGE_peak_5_at_SLC35F2_5end
chr11	107729668	107729680	CAGE_peak_8_at_SLC35F2_5end
chr11	107729876	107729881	CAGE_peak_10_at_SLC35F2_5end
chr11	107729887	107729927	CAGE_peak_3_at_SLC35F2_5end
chr11	107729933	107729942	CAGE_peak_7_at_SLC35F2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I107800	107800909	107800927	0.22	[{'connected_gene': 'ACAT1', 'score': 1.59}, {'connected_gene': 'LOC203930', 'score': 0.21}, {'connected_gene': 'RPLP2P3', 'score': 0.14}, {'connected_gene': 'SLC35F2', 'score': 0.13}]
chr11	GH11I107692	107692438	107693926	0.31	[{'connected_gene': 'SLN', 'score': 12.28}, {'connected_gene': 'ALKBH8', 'score': 12.18}, {'connected_gene': 'ELMOD1', 'score': 10.95}, {'connected_gene': 'SLC35F2', 'score': 6.32}, {'connected_gene': 'ENSG00000254758', 'score': 0.25}]
chr11	GH11I107695	107695323	107697405	1.06	[{'connected_gene': 'SLN', 'score': 12.31}, {'connected_gene': 'ALKBH8', 'score': 11.21}, {'connected_gene': 'ELMOD1', 'score': 10.76}, {'connected_gene': 'SLC35F2', 'score': 5.45}, {'connected_gene': 'ENSG00000254758', 'score': 0.23}]
chr11	GH11I107746	107746871	107748555	0.4	[{'connected_gene': 'SLN', 'score': 11.48}, {'connected_gene': 'SLC35F2', 'score': 5.81}, {'connected_gene': 'LOC203930', 'score': 0.44}, {'connected_gene': 'RPLP2P3', 'score': 0.1}]
chr11	GH11I107718	107718934	107723495	0.66	[{'connected_gene': 'SLN', 'score': 559.71}, {'connected_gene': 'DDX10', 'score': 12.95}, {'connected_gene': 'NPAT', 'score': 9.94}, {'connected_gene': 'SLC35F2', 'score': 5.79}, {'connected_gene': 'LOC203930', 'score': 0.37}]
chr11	GH11I107834	107834015	107834164	0.49	[{'connected_gene': 'RPLP2P3', 'score': 0.19}, {'connected_gene': 'SLC35F2', 'score': 0.16}, {'connected_gene': 'LOC203930', 'score': 0.15}]
chr11	GH11I107664	107664306	107665654	0.31	[{'connected_gene': 'ELMOD1', 'score': 11.21}, {'connected_gene': 'SLC35F2', 'score': 4.6}, {'connected_gene': 'ENSG00000254758', 'score': 0.34}, {'connected_gene': 'SLN', 'score': 0.23}]
chr11	GH11I107929	107929875	107930036	0.46	[{'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'SLC35F2', 'score': 550.77}, {'connected_gene': 'CUL5', 'score': 0.18}]
chr11	GH11I107882	107882175	107882324	0.46	[{'connected_gene': 'RAB39A', 'score': 11.29}, {'connected_gene': 'SLC35F2', 'score': 11.29}, {'connected_gene': 'SLN', 'score': 10.12}, {'connected_gene': 'RPLP2P3', 'score': 0.31}, {'connected_gene': 'LOC203930', 'score': 0.11}]
chr11	GH11I107752	107752493	107753800	0.63	[{'connected_gene': 'SLC35F2', 'score': 4.74}, {'connected_gene': 'SLN', 'score': 4.7}, {'connected_gene': 'LOC203930', 'score': 0.39}, {'connected_gene': 'RPLP2P3', 'score': 0.1}]
chr11	GH11I107667	107667075	107667124	0.38	[{'connected_gene': 'SLC35F2', 'score': 4.59}, {'connected_gene': 'ENSG00000254758', 'score': 0.34}, {'connected_gene': 'SLN', 'score': 0.23}]
chr11	GH11I107849	107849216	107850282	0.31	[{'connected_gene': 'SLC35F2', 'score': 14.57}, {'connected_gene': 'RPLP2P3', 'score': 0.22}, {'connected_gene': 'LOC203930', 'score': 0.14}]
chr11	GH11I107831	107831055	107831204	0.43	[{'connected_gene': 'SLC35F2', 'score': 7.76}, {'connected_gene': 'RPLP2P3', 'score': 0.18}, {'connected_gene': 'LOC203930', 'score': 0.16}]
chr11	GH11I107927	107927601	107929601	1.96	[{'connected_gene': 'SLC35F2', 'score': 556.71}, {'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 34.06}, {'connected_gene': 'CWF19L2', 'score': 19.15}, {'connected_gene': 'CUL5', 'score': 10.34}, {'connected_gene': 'ALKBH8', 'score': 10.02}, {'connected_gene': 'DDX10', 'score': 9.91}, {'connected_gene': 'ASS1P13', 'score': 5.39}]
chr11	GH11I107780	107780713	107781015	0.38	[{'connected_gene': 'SLC35F2', 'score': 8.11}, {'connected_gene': 'LOC203930', 'score': 0.26}, {'connected_gene': 'RPLP2P3', 'score': 0.13}]
chr11	GH11I107768	107768929	107771264	0.59	[{'connected_gene': 'SLC35F2', 'score': 6.89}, {'connected_gene': 'LOC203930', 'score': 0.29}, {'connected_gene': 'RPLP2P3', 'score': 0.12}]
chr11	GH11I107799	107799435	107799524	0.6	[{'connected_gene': 'SLC35F2', 'score': 5.61}, {'connected_gene': 'LOC203930', 'score': 0.21}, {'connected_gene': 'RPLP2P3', 'score': 0.14}]
chr11	GH11I107856	107856194	107860871	2.02	[{'connected_gene': 'SLC35F2', 'score': 564.88}, {'connected_gene': 'LOC105369477', 'score': 10.63}, {'connected_gene': 'DDX10', 'score': 9.69}, {'connected_gene': 'RPLP2P3', 'score': 0.25}, {'connected_gene': 'LOC203930', 'score': 0.13}]
chr11	GH11I107839	107839002	107844577	1.17	[{'connected_gene': 'NPAT', 'score': 19.5}, {'connected_gene': 'SLC35F2', 'score': 13.68}, {'connected_gene': 'LOC105369477', 'score': 12.26}, {'connected_gene': 'RPLP2P3', 'score': 0.2}, {'connected_gene': 'LOC203930', 'score': 0.15}]
chr11	GH11I107818	107818777	107821130	0.57	[{'connected_gene': 'ATM', 'score': 4.09}, {'connected_gene': 'LOC203930', 'score': 0.18}, {'connected_gene': 'RPLP2P3', 'score': 0.17}, {'connected_gene': 'SLC35F2', 'score': 0.14}]
chr11	GH11I107916	107916635	107916784	0.6	[{'connected_gene': 'PIR41696', 'score': 550.77}, {'connected_gene': 'RPLP2P3', 'score': 0.44}, {'connected_gene': 'SLC35F2', 'score': 0.39}]
chr11	GH11I107917	107917055	107917204	0.38	[{'connected_gene': 'PIR41696', 'score': 550.77}, {'connected_gene': 'RPLP2P3', 'score': 0.44}, {'connected_gene': 'SLC35F2', 'score': 0.39}]