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
ENST00000243498	[[122722471, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737523, 122737602], [122737926, 122738064]]	[[122722579, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737523, 122737602], [122737926, 122738011]]
ENST00000509980	[[122722472, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122736504, 122736558]]	None
ENST00000379663	[[122722474, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737298, 122737349], [122737523, 122737602], [122737926, 122738064]]	[[122722579, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737298, 122737349], [122737523, 122737602], [122737926, 122738011]]
ENST00000513654	[[122722477, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731228], [122732737, 122732826], [122734388, 122734535], [122735020, 122737602], [122737926, 122738176]]	[[122722579, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731228], [122732737, 122732754]]
ENST00000511454	[[122722479, 122722645], [122722981, 122723076], [122723828, 122723887], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732796]]	[[122722579, 122722645], [122722981, 122723076], [122723828, 122723887], [122725776, 122725817]]
ENST00000509800	[[122722500, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122728694, 122728777], [122731121, 122731254], [122732737, 122732815]]	[[122722579, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122728694, 122728777], [122731121, 122731254], [122732737, 122732815]]
ENST00000512454	[[122722747, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737523, 122737602], [122737926, 122738066]]	[[122722963, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737523, 122737602], [122737926, 122738011]]
ENST00000508212	[[122723892, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122730988, 122731071], [122732737, 122732826], [122734388, 122734448]]	None
ENST00000506201	[[122725653, 122725914], [122728694, 122729023]]	None
ENST00000511132	[[122725886, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122735020, 122735202]]	[[122725886, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122735020, 122735202]]
ENST00000503139	[[122725888, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734909, 122735782]]	None
ENST00000503236	[[122731140, 122731254], [122732737, 122732826], [122734909, 122735202], [122737523, 122737602], [122737926, 122737995]]	None
NM_005033	[[122722471, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737523, 122737602], [122737926, 122738176]]	[[122722579, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737523, 122737602], [122737926, 122738011]]
NM_001034194	[[122722471, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737298, 122737349], [122737523, 122737602], [122737926, 122738176]]	[[122722579, 122722645], [122722981, 122723076], [122723828, 122723948], [122724069, 122724172], [122725776, 122725914], [122728694, 122728777], [122731121, 122731254], [122732737, 122732826], [122734388, 122734535], [122735020, 122735202], [122737298, 122737349], [122737523, 122737602], [122737926, 122738011]]

Promoter

Chrom	Start	End	Description
chr4	122722466	122722556	CAGE_peak_1_at_EXOSC9_5end
chr4	122722558	122722567	CAGE_peak_2_at_EXOSC9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I121821	121821650	121824689	2.05	[{'connected_gene': 'CCNA2', 'score': 550.77}, {'connected_gene': 'EXOSC9', 'score': 40.56}, {'connected_gene': 'BBS7', 'score': 13.42}, {'connected_gene': 'ENSG00000237868', 'score': 9.69}]
chr4	GH04I121070	121070201	121075317	1.82	[{'connected_gene': 'NDNF', 'score': 578.72}, {'connected_gene': 'LOC105377400', 'score': 550.77}, {'connected_gene': 'EXOSC9', 'score': 18.18}]
chr4	GH04I122731	122731766	122734639	2.01	[{'connected_gene': 'CETN4P', 'score': 566.01}, {'connected_gene': 'BBS12', 'score': 550.29}, {'connected_gene': 'EXOSC9', 'score': 27.42}, {'connected_gene': 'SPATA5', 'score': 26.25}, {'connected_gene': 'KIAA1109', 'score': 12.33}, {'connected_gene': 'BBS7', 'score': 11.51}, {'connected_gene': 'ENSG00000273007', 'score': 10.98}, {'connected_gene': 'TRPC3', 'score': 10.08}, {'connected_gene': 'LOC727709', 'score': 0.44}]
chr4	GH04I121739	121738766	121740478	0.66	[{'connected_gene': 'BBS7', 'score': 10.09}, {'connected_gene': 'EXOSC9', 'score': 4.46}, {'connected_gene': 'PP12613', 'score': 0.34}, {'connected_gene': 'ANXA5', 'score': 0.26}]
chr4	GH04I121779	121779076	121779969	0.63	[{'connected_gene': 'BBS7', 'score': 11.25}, {'connected_gene': 'TMEM155', 'score': 9.92}, {'connected_gene': 'EXOSC9', 'score': 9.49}]
chr4	GH04I121798	121798985	121802532	2.06	[{'connected_gene': 'EXOSC9', 'score': 570.14}, {'connected_gene': 'BBS7', 'score': 12.57}, {'connected_gene': 'TMEM155', 'score': 11.22}, {'connected_gene': 'PP12613', 'score': 11.2}, {'connected_gene': 'ENSG00000237868', 'score': 9.69}]
chr4	GH04I121782	121782523	121782541	0.22	[{'connected_gene': 'EXOSC9', 'score': 0.37}, {'connected_gene': 'TMEM155', 'score': 0.37}]
chr4	GH04I121655	121655019	121656336	0.66	[{'connected_gene': 'ANXA5', 'score': 11.46}, {'connected_gene': 'SETP12', 'score': 11.43}, {'connected_gene': 'EXOSC9', 'score': 11.36}, {'connected_gene': 'ENSG00000237868', 'score': 11.2}, {'connected_gene': 'LOC105377402', 'score': 0.44}, {'connected_gene': 'GC04M121669', 'score': 0.39}, {'connected_gene': 'GC04M121668', 'score': 0.39}]
chr4	GH04I122699	122699786	122700800	1.08	[{'connected_gene': 'BBS12', 'score': 550.77}, {'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.55}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'FGF2', 'score': 10.2}, {'connected_gene': 'IL21-AS1', 'score': 10.11}, {'connected_gene': 'CETN4P', 'score': 6.04}, {'connected_gene': 'IL21', 'score': 0.18}]
chr4	GH04I122688	122688401	122689000	0.46	[{'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.54}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'IL21-AS1', 'score': 9.76}, {'connected_gene': 'BBS12', 'score': 0.39}, {'connected_gene': 'IL21', 'score': 0.2}]
chr4	GH04I121788	121788921	121792217	1.15	[{'connected_gene': 'TMEM155', 'score': 24.1}, {'connected_gene': 'PP12613', 'score': 11.96}, {'connected_gene': 'CCNA2', 'score': 11.51}, {'connected_gene': 'BBS7', 'score': 11.38}, {'connected_gene': 'EXOSC9', 'score': 6.22}]
chr4	GH04I121794	121794559	121797022	1.15	[{'connected_gene': 'TMEM155', 'score': 11.68}, {'connected_gene': 'PP12613', 'score': 11.67}, {'connected_gene': 'CCNA2', 'score': 11.53}, {'connected_gene': 'BBS7', 'score': 11.43}, {'connected_gene': 'EXOSC9', 'score': 6.45}]
chr4	GH04I121783	121783353	121786954	1.07	[{'connected_gene': 'TMEM155', 'score': 12.48}, {'connected_gene': 'PP12613', 'score': 11.9}, {'connected_gene': 'BBS7', 'score': 11.28}, {'connected_gene': 'EXOSC9', 'score': 9.13}]
chr4	GH04I121766	121765000	121765201	0.9	[{'connected_gene': 'PP12613', 'score': 550.77}, {'connected_gene': 'TMEM155', 'score': 550.77}, {'connected_gene': 'EXOSC9', 'score': 4.87}]