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
ENST00000514247	[[186320693, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339765, 186339924], [186343638, 186343717], [186347019, 186347133]]	[[186339638, 186339661], [186339765, 186339924], [186343638, 186343717], [186347019, 186347022]]
ENST00000264689	[[186321442, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347139]]	[[186321545, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347022]]
ENST00000510206	[[186321468, 186321632], [186324647, 186324772], [186326933, 186327322]]	None
ENST00000510755	[[186321487, 186321632], [186324647, 186324772], [186326933, 186327113], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347123]]	[[186327070, 186327113], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347022]]
ENST00000511485	[[186321491, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329544], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339667]]	[[186321545, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329544], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339667]]
ENST00000509180	[[186323415, 186323498], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186334896]]	[[186323415, 186323498], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186334896]]
ENST00000502428	[[186336437, 186336501], [186336863, 186336969], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347084]]	[[186336963, 186336969], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347022]]
ENST00000502282	[[186336933, 186336969], [186339594, 186339661], [186339740, 186339924], [186343638, 186343718]]	None
ENST00000505357	[[186336964, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343707], [186347019, 186347132]]	[[186336964, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343702]]
NR_144317	[[186320693, 186321632], [186324647, 186324772], [186326933, 186327113], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347139]]	None
NM_018359	[[186320693, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347139]]	[[186321545, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339740, 186339924], [186343638, 186343717], [186347019, 186347022]]
NR_028085	[[186320693, 186321632], [186324647, 186324772], [186326933, 186327010], [186329089, 186329214], [186329424, 186329589], [186334879, 186335026], [186336308, 186336501], [186336863, 186337021], [186339594, 186339661], [186339765, 186339924], [186343638, 186343717], [186347019, 186347139]]	None

Promoter

Chrom	Start	End	Description
chr4	186347035	186347076	CAGE_peak_2_at_UFSP2_5end
chr4	186347078	186347094	CAGE_peak_3_at_UFSP2_5end
chr4	186347099	186347140	CAGE_peak_1_at_UFSP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I185255	185255419	185257000	0.76	[{'connected_gene': 'SNX25', 'score': 18.32}, {'connected_gene': 'CFAP97', 'score': 18.05}, {'connected_gene': 'UFSP2', 'score': 5.61}, {'connected_gene': 'LOC105377591', 'score': 0.14}]
chr4	GH04I184731	184731709	184735026	2.13	[{'connected_gene': 'CENPU', 'score': 602.56}, {'connected_gene': 'PRIMPOL', 'score': 34.81}, {'connected_gene': 'UFSP2', 'score': 12.21}, {'connected_gene': 'SNX25', 'score': 10.37}, {'connected_gene': 'CFAP97', 'score': 10.18}, {'connected_gene': 'GC04P184696', 'score': 0.28}]
chr4	GH04I185360	185360746	185364401	0.52	[{'connected_gene': 'LRP2BP', 'score': 18.2}, {'connected_gene': 'SNX25', 'score': 6.37}, {'connected_gene': 'UFSP2', 'score': 4.62}, {'connected_gene': 'LOC105377591', 'score': 0.44}, {'connected_gene': 'CFAP97', 'score': 0.1}]
chr4	GH04I185349	185349884	185353913	0.52	[{'connected_gene': 'LRP2BP', 'score': 17.3}, {'connected_gene': 'UFSP2', 'score': 11.43}, {'connected_gene': 'LOC105377591', 'score': 0.37}, {'connected_gene': 'SNX25', 'score': 0.11}, {'connected_gene': 'CFAP97', 'score': 0.11}]
chr4	GH04I185343	185343654	185346021	1.08	[{'connected_gene': 'LRP2BP', 'score': 18.2}, {'connected_gene': 'UFSP2', 'score': 6.15}, {'connected_gene': 'LOC105377591', 'score': 0.31}, {'connected_gene': 'CFAP97', 'score': 0.12}, {'connected_gene': 'SNX25', 'score': 0.11}]
chr4	GH04I185357	185357343	185360463	1.04	[{'connected_gene': 'LRP2BP', 'score': 29.19}, {'connected_gene': 'ANKRD37', 'score': 11.29}, {'connected_gene': 'UFSP2', 'score': 9.38}, {'connected_gene': 'LOC105377591', 'score': 0.39}, {'connected_gene': 'CFAP97', 'score': 0.11}, {'connected_gene': 'SNX25', 'score': 0.1}]
chr4	GH04I185394	185394282	185398071	2.08	[{'connected_gene': 'LRP2BP', 'score': 576.23}, {'connected_gene': 'GC04M185389', 'score': 550.77}, {'connected_gene': 'ANKRD37', 'score': 550.77}, {'connected_gene': 'UFSP2', 'score': 59.52}, {'connected_gene': 'LOC105377591', 'score': 11.41}, {'connected_gene': 'C4orf47', 'score': 10.45}, {'connected_gene': 'SNX25', 'score': 10.38}, {'connected_gene': 'CFAP97', 'score': 6.27}]
chr4	GH04I185598	185598844	185600406	0.38	[{'connected_gene': 'UFSP2', 'score': 4.99}, {'connected_gene': 'ENSG00000233110', 'score': 0.39}, {'connected_gene': 'ENSG00000235902', 'score': 0.2}, {'connected_gene': 'SORBS2', 'score': 0.05}]
chr4	GH04I185424	185424001	185424400	0.2	[{'connected_gene': 'UFSP2', 'score': 562.59}, {'connected_gene': 'LRP2BP', 'score': 9.34}, {'connected_gene': 'GC04M185416', 'score': 0.44}, {'connected_gene': 'ENSG00000207231', 'score': 0.44}, {'connected_gene': 'C4orf47', 'score': 0.37}]
chr4	GH04I185398	185398825	185399983	0.69	[{'connected_gene': 'UFSP2', 'score': 42.27}, {'connected_gene': 'LRP2BP', 'score': 11.63}, {'connected_gene': 'ANKRD37', 'score': 0.77}, {'connected_gene': 'C4orf47', 'score': 0.44}]
chr4	GH04I185425	185424816	185426800	2.04	[{'connected_gene': 'UFSP2', 'score': 607.12}, {'connected_gene': 'GC04P185428', 'score': 550.77}, {'connected_gene': 'PRIMPOL', 'score': 14.38}, {'connected_gene': 'C4orf47', 'score': 11.09}, {'connected_gene': 'GC04M185416', 'score': 0.44}, {'connected_gene': 'ENSG00000207231', 'score': 0.44}]
chr4	GH04I185709	185709568	185714995	1.31	[{'connected_gene': 'UFSP2', 'score': 5.26}, {'connected_gene': 'GC04M185710', 'score': 0.77}, {'connected_gene': 'ENSG00000207497', 'score': 0.77}, {'connected_gene': 'LOC101928929', 'score': 0.08}, {'connected_gene': 'SORBS2', 'score': 0.07}]
chr4	GH04I185781	185781311	185782189	0.38	[{'connected_gene': 'UFSP2', 'score': 4.96}, {'connected_gene': 'GC04M185710', 'score': 0.19}, {'connected_gene': 'ENSG00000207497', 'score': 0.19}, {'connected_gene': 'LOC101928929', 'score': 0.13}, {'connected_gene': 'SORBS2', 'score': 0.09}]
chr4	GH04I185565	185565668	185571111	1.46	[{'connected_gene': 'PDLIM3', 'score': 21.19}, {'connected_gene': 'UFSP2', 'score': 1.89}, {'connected_gene': 'ENSG00000233110', 'score': 0.37}]
chr4	GH04I184878	184878666	184879743	0.2	[{'connected_gene': 'ACSL1', 'score': 12.05}, {'connected_gene': 'UFSP2', 'score': 5.45}, {'connected_gene': 'LINC01093', 'score': 0.34}, {'connected_gene': 'MIR3945HG', 'score': 0.34}]
chr4	GH04I184881	184881157	184884227	0.52	[{'connected_gene': 'ACSL1', 'score': 11.91}, {'connected_gene': 'UFSP2', 'score': 4.79}, {'connected_gene': 'LINC01093', 'score': 0.37}, {'connected_gene': 'MIR3945HG', 'score': 0.31}]
chr4	GH04I184849	184849945	184854000	0.97	[{'connected_gene': 'MIR3945', 'score': 550.77}, {'connected_gene': 'PRIMPOL', 'score': 13.32}, {'connected_gene': 'UFSP2', 'score': 12.22}, {'connected_gene': 'CFAP97', 'score': 10.19}, {'connected_gene': 'MIR3945HG', 'score': 0.77}]
chr4	GH04I185587	185587107	185588196	1.05	[{'connected_gene': 'ENSG00000233110', 'score': 550.77}, {'connected_gene': 'UFSP2', 'score': 4.66}, {'connected_gene': 'PDLIM3', 'score': 0.23}, {'connected_gene': 'SORBS2', 'score': 0.05}]