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
ENST00000367137	[[205758220, 205760846], [205763997, 205764146], [205764471, 205764606], [205766051, 205766131], [205767031, 205767179], [205767796, 205767943], [205768084, 205768229], [205768886, 205768958], [205770080, 205770188], [205779197, 205780215], [205781935, 205782304]]	[[205760660, 205760846], [205763997, 205764146], [205764471, 205764606], [205766051, 205766131], [205767031, 205767179], [205767796, 205767943], [205768084, 205768229], [205768886, 205768958], [205770080, 205770188], [205779197, 205779569]]
ENST00000468057	[[205758221, 205760846], [205763997, 205764146], [205764471, 205764606], [205766051, 205766131], [205767031, 205767179], [205767796, 205767943], [205768084, 205768229], [205768886, 205768958], [205770080, 205770188], [205770448, 205770616]]	None
ENST00000484228	[[205760047, 205760846], [205763997, 205764146], [205764471, 205765744]]	None
ENST00000484000	[[205779426, 205780215], [205782822, 205782876]]	None
NM_173854	[[205758220, 205760846], [205763997, 205764146], [205764471, 205764606], [205766051, 205766131], [205767031, 205767179], [205767796, 205767943], [205768084, 205768229], [205768886, 205768958], [205770080, 205770188], [205779197, 205780215], [205781935, 205782324]]	[[205760660, 205760846], [205763997, 205764146], [205764471, 205764606], [205766051, 205766131], [205767031, 205767179], [205767796, 205767943], [205768084, 205768229], [205768886, 205768958], [205770080, 205770188], [205779197, 205779569]]

Promoter

Chrom	Start	End	Description
chr1	205760332	205760349	CAGE_peak_5_at_SLC41A1_5end
chr1	205782117	205782124	CAGE_peak_8_at_SLC41A1_5end
chr1	205782153	205782174	CAGE_peak_1_at_SLC41A1_5end
chr1	205782278	205782294	CAGE_peak_3_at_SLC41A1_5end
chr1	205782309	205782332	CAGE_peak_2_at_SLC41A1_5end
chr1	205782876	205782895	CAGE_peak_4_at_SLC41A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I205808	205808801	205809000	0.51	[{'connected_gene': 'RAB29', 'score': 11.1}, {'connected_gene': 'GC01P205813', 'score': 0.77}, {'connected_gene': 'SLC41A1', 'score': 0.77}, {'connected_gene': 'GC01M205795', 'score': 0.39}]
chr1	GH01I205806	205806868	205807726	0.43	[{'connected_gene': 'RAB29', 'score': 11.1}, {'connected_gene': 'GC01P205813', 'score': 0.44}, {'connected_gene': 'SLC41A1', 'score': 0.44}, {'connected_gene': 'GC01M205795', 'score': 0.39}]
chr1	GH01I205800	205800268	205802471	0.83	[{'connected_gene': 'RAB29', 'score': 15.35}, {'connected_gene': 'PM20D1', 'score': 10.4}, {'connected_gene': 'NUCKS1', 'score': 9.96}, {'connected_gene': 'ELK4', 'score': 4.79}, {'connected_gene': 'GC01M205795', 'score': 0.77}, {'connected_gene': 'GC01P205813', 'score': 0.39}, {'connected_gene': 'SLC41A1', 'score': 0.39}]
chr1	GH01I205786	205786351	205787978	1.03	[{'connected_gene': 'RAB29', 'score': 26.13}, {'connected_gene': 'PM20D1', 'score': 23.58}, {'connected_gene': 'SLC41A1', 'score': 11.99}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'SLC26A9', 'score': 10.01}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'LOC105371702', 'score': 0.39}]
chr1	GH01I205832	205832413	205832562	0.57	[{'connected_gene': 'RAB29', 'score': 10.82}, {'connected_gene': 'SLC26A9', 'score': 10.27}, {'connected_gene': 'PM20D1', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.37}]
chr1	GH01I205852	205852113	205852222	0.54	[{'connected_gene': 'SLC41A1', 'score': 11.07}, {'connected_gene': 'RAB29', 'score': 9.81}, {'connected_gene': 'PM20D1', 'score': 0.77}, {'connected_gene': 'LOC284581', 'score': 0.44}]
chr1	GH01I205858	205858493	205858502	0.31	[{'connected_gene': 'SLC41A1', 'score': 11.43}, {'connected_gene': 'NUCKS1', 'score': 10.33}, {'connected_gene': 'RAB29', 'score': 10.21}, {'connected_gene': 'LOC284581', 'score': 0.77}, {'connected_gene': 'PM20D1', 'score': 0.44}]
chr1	GH01I205825	205825738	205828151	0.62	[{'connected_gene': 'PM20D1', 'score': 27.29}, {'connected_gene': 'RAB29', 'score': 21.55}, {'connected_gene': 'NUCKS1', 'score': 10.47}, {'connected_gene': 'SLC26A9', 'score': 10.29}, {'connected_gene': 'SLC41A1', 'score': 0.39}]
chr1	GH01I205803	205803707	205806717	0.54	[{'connected_gene': 'PM20D1', 'score': 59.05}, {'connected_gene': 'RAB29', 'score': 18.81}, {'connected_gene': 'DSTYK', 'score': 13.18}, {'connected_gene': 'NUCKS1', 'score': 10.22}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'GC01P205813', 'score': 0.44}, {'connected_gene': 'SLC41A1', 'score': 0.44}]
chr1	GH01I205840	205840301	205843570	0.66	[{'connected_gene': 'PM20D1', 'score': 23.37}, {'connected_gene': 'RAB29', 'score': 19.73}, {'connected_gene': 'SLC41A1', 'score': 11.17}, {'connected_gene': 'SLC26A9', 'score': 9.85}]
chr1	GH01I205791	205791713	205793888	0.96	[{'connected_gene': 'PM20D1', 'score': 41.4}, {'connected_gene': 'RAB29', 'score': 23.23}, {'connected_gene': 'ELK4', 'score': 14.91}, {'connected_gene': 'DSTYK', 'score': 13.18}, {'connected_gene': 'EIF2D', 'score': 12.96}, {'connected_gene': 'SLC26A9', 'score': 11.28}, {'connected_gene': 'NUCKS1', 'score': 10.7}, {'connected_gene': 'GC01M205795', 'score': 0.77}, {'connected_gene': 'LOC105371702', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.34}]
chr1	GH01I205849	205849463	205850782	1.49	[{'connected_gene': 'PM20D1', 'score': 550.77}, {'connected_gene': 'SLC41A1', 'score': 11.07}, {'connected_gene': 'RAB29', 'score': 9.82}]
chr1	GH01I205784	205784932	205785897	0.31	[{'connected_gene': 'PM20D1', 'score': 23.7}, {'connected_gene': 'SLC41A1', 'score': 11.99}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'SLC26A9', 'score': 10.78}, {'connected_gene': 'LOC105371702', 'score': 0.44}, {'connected_gene': 'GC01M205795', 'score': 0.39}]
chr1	GH01I205789	205789070	205790227	0.2	[{'connected_gene': 'PM20D1', 'score': 54.49}, {'connected_gene': 'SLC41A1', 'score': 12.02}, {'connected_gene': 'SLC26A9', 'score': 11.28}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'RAB29', 'score': 8.67}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'LOC105371702', 'score': 0.39}]
chr1	GH01I205809	205809801	205810400	0.66	[{'connected_gene': 'PM20D1', 'score': 13.71}, {'connected_gene': 'GC01P205813', 'score': 0.77}, {'connected_gene': 'SLC41A1', 'score': 0.77}, {'connected_gene': 'GC01M205795', 'score': 0.39}]
chr1	GH01I205920	205920200	205920600	0.4	[{'connected_gene': 'SLC26A9', 'score': 11.89}, {'connected_gene': 'SLC41A1', 'score': 10.96}, {'connected_gene': 'ENSG00000226780', 'score': 10.53}, {'connected_gene': 'AVPR1B', 'score': 10.53}, {'connected_gene': 'RAB29', 'score': 10.05}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1	GH01I205921	205920763	205921437	0.38	[{'connected_gene': 'SLC26A9', 'score': 11.89}, {'connected_gene': 'SLC41A1', 'score': 10.96}, {'connected_gene': 'ENSG00000226780', 'score': 10.53}, {'connected_gene': 'AVPR1B', 'score': 10.53}, {'connected_gene': 'RAB29', 'score': 10.05}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1	GH01I205811	205811052	205814366	2.23	[{'connected_gene': 'GC01P205813', 'score': 550.77}, {'connected_gene': 'SLC41A1', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 50.06}, {'connected_gene': 'MAPKAPK2', 'score': 14.79}, {'connected_gene': 'GC01M205795', 'score': 0.37}]
chr1	GH01I205796	205796621	205799418	0.68	[{'connected_gene': 'GC01M205795', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 59.13}, {'connected_gene': 'RAB29', 'score': 11.86}, {'connected_gene': 'SLC26A9', 'score': 10.96}, {'connected_gene': 'NUCKS1', 'score': 10.52}, {'connected_gene': 'MFSD4A', 'score': 9.33}, {'connected_gene': 'DSTYK', 'score': 5.64}, {'connected_gene': 'GC01P205813', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.37}]