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
ENST00000258597	[[52706774, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710368], [52710935, 52711038], [52715155, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730383], [52733677, 52733695]]	[[52715181, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730326]]
ENST00000378101	[[52706778, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715206], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730383], [52733332, 52733510]]	[[52707277, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715206], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730326]]
ENST00000548127	[[52706778, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730383], [52733677, 52733996]]	[[52715181, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730326]]
ENST00000339406	[[52706778, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715206], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730383], [52733677, 52733996]]	[[52707277, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715206], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730326]]
ENST00000550331	[[52706780, 52707362], [52707824, 52707975]]	None
ENST00000400357	[[52706786, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52731620]]	[[52707277, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730326]]
ENST00000452082	[[52706786, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52731620]]	[[52707277, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730389]]
ENST00000547820	[[52707308, 52707362], [52707824, 52707951], [52710251, 52710395], [52710935, 52711038], [52715155, 52715205], [52718050, 52718115]]	[[52715181, 52715205], [52718050, 52718115]]
ENST00000551355	[[52718906, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52730209, 52730383], [52733677, 52733718]]	[[52728103, 52728127], [52730209, 52730326]]
ENST00000552973	[[52722276, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730383], [52733677, 52733685]]	None
ENST00000550841	[[52728251, 52728308], [52730209, 52730383], [52733332, 52733670]]	[[52728251, 52728308], [52730209, 52730326]]
NM_152720	[[52706778, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715202], [52715204, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730383], [52733332, 52733670]]	[[52707277, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715202], [52715204, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730326]]
NM_002498	[[52706778, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715202], [52715204, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730383], [52733677, 52733996]]	[[52707277, 52707362], [52707824, 52707951], [52709864, 52709999], [52710251, 52710395], [52710935, 52711038], [52715155, 52715202], [52715204, 52715205], [52718050, 52718122], [52718825, 52719026], [52722549, 52722604], [52725280, 52725367], [52725459, 52725527], [52726743, 52726827], [52728029, 52728127], [52728214, 52728308], [52730209, 52730326]]

Promoter

Chrom	Start	End	Description
chr13	52733546	52733564	CAGE_peak_3_at_NEK3_5end
chr13	52733584	52733601	CAGE_peak_6_at_NEK3_5end
chr13	52733695	52733760	CAGE_peak_1_at_NEK3_5end
chr13	52733937	52733950	CAGE_peak_8_at_NEK3_5end
chr13	52733980	52734002	CAGE_peak_4_at_NEK3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I051311	51311585	51312477	0.43	[{'connected_gene': 'SERPINE3', 'score': 12.84}, {'connected_gene': 'FAM124A', 'score': 10.77}, {'connected_gene': 'NEK3', 'score': 4.53}, {'connected_gene': 'GC13P051260', 'score': 0.23}]
chr13	GH13I051995	51995245	52000247	1.17	[{'connected_gene': 'ATP7B', 'score': 39.34}, {'connected_gene': 'NEK3', 'score': 19.14}, {'connected_gene': 'NEK5', 'score': 17.85}, {'connected_gene': 'TPTE2P2', 'score': 13.16}, {'connected_gene': 'UTP14C', 'score': 12.14}, {'connected_gene': 'CCDC70', 'score': 10.15}, {'connected_gene': 'DHRS12', 'score': 9.3}, {'connected_gene': 'ENSG00000231856', 'score': 9.3}, {'connected_gene': 'FABP5P2', 'score': 0.29}]
chr13	GH13I052009	52009849	52013635	2.07	[{'connected_gene': 'ATP7B', 'score': 591.58}, {'connected_gene': 'ALG11', 'score': 566.24}, {'connected_gene': 'NEK3', 'score': 25.6}, {'connected_gene': 'TPTE2P2', 'score': 13.16}, {'connected_gene': 'INTS6', 'score': 12.84}, {'connected_gene': 'FABP5P2', 'score': 0.25}]
chr13	GH13I051941	51941826	51942769	0.51	[{'connected_gene': 'VPS36', 'score': 11.85}, {'connected_gene': 'ATP7B', 'score': 11.47}, {'connected_gene': 'ALG11', 'score': 11.46}, {'connected_gene': 'UTP14C', 'score': 11.34}, {'connected_gene': 'NEK3', 'score': 11.21}, {'connected_gene': 'CCDC70', 'score': 10.69}, {'connected_gene': 'ENSG00000279677', 'score': 0.34}, {'connected_gene': 'FABP5P2', 'score': 0.34}]
chr13	GH13I052108	52108635	52110054	0.38	[{'connected_gene': 'NEK3', 'score': 19.68}, {'connected_gene': 'UTP14C', 'score': 10.85}, {'connected_gene': 'ALG11', 'score': 10.83}, {'connected_gene': 'CCDC70', 'score': 9.88}, {'connected_gene': 'LOC101929657', 'score': 0.37}, {'connected_gene': 'NEK5', 'score': 0.34}, {'connected_gene': 'GC13P052032', 'score': 0.18}, {'connected_gene': 'PIR48020', 'score': 0.18}]
chr13	GH13I051969	51969737	51972553	0.96	[{'connected_gene': 'NEK3', 'score': 15.54}, {'connected_gene': 'UTP14C', 'score': 12.58}, {'connected_gene': 'ALG11', 'score': 11.19}, {'connected_gene': 'NEK5', 'score': 10.12}, {'connected_gene': 'CKAP2', 'score': 10.04}, {'connected_gene': 'FABP5P2', 'score': 0.77}, {'connected_gene': 'ATP7B', 'score': 0.26}]
chr13	GH13I052087	52087642	52088266	0.72	[{'connected_gene': 'NEK3', 'score': 24.22}, {'connected_gene': 'TPTE2P2', 'score': 12.64}, {'connected_gene': 'UTP14C', 'score': 11.36}, {'connected_gene': 'ALG11', 'score': 11.33}, {'connected_gene': 'NEK5', 'score': 11.04}, {'connected_gene': 'ATP7B', 'score': 10.65}, {'connected_gene': 'DHRS12', 'score': 9.48}, {'connected_gene': 'ENSG00000231856', 'score': 9.48}, {'connected_gene': 'LOC101929657', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.22}, {'connected_gene': 'PIR48020', 'score': 0.22}]
chr13	GH13I052158	52158348	52163695	2.4	[{'connected_gene': 'NEK3', 'score': 581.08}, {'connected_gene': 'TPTE2P2', 'score': 14.93}, {'connected_gene': 'ATP7B', 'score': 11.53}, {'connected_gene': 'NEK5', 'score': 7.86}, {'connected_gene': 'THSD1P1', 'score': 0.44}]
chr13	GH13I052002	52002816	52007070	0.59	[{'connected_gene': 'NEK3', 'score': 21.31}, {'connected_gene': 'TPTE2P2', 'score': 13.16}, {'connected_gene': 'NEK5', 'score': 10.68}, {'connected_gene': 'DHRS12', 'score': 9.63}, {'connected_gene': 'ENSG00000231856', 'score': 9.63}, {'connected_gene': 'CKAP2', 'score': 3.92}, {'connected_gene': 'ATP7B', 'score': 0.44}, {'connected_gene': 'FABP5P2', 'score': 0.28}]
chr13	GH13I051957	51957305	51961243	0.96	[{'connected_gene': 'NEK3', 'score': 14.27}, {'connected_gene': 'VPS36', 'score': 12.37}, {'connected_gene': 'ATP7B', 'score': 10.35}, {'connected_gene': 'TPTE2P2', 'score': 9.48}, {'connected_gene': 'FABP5P2', 'score': 0.44}, {'connected_gene': 'ENSG00000279677', 'score': 0.28}]
chr13	GH13I051954	51954772	51956474	0.66	[{'connected_gene': 'NEK3', 'score': 14.85}, {'connected_gene': 'VPS36', 'score': 12.16}, {'connected_gene': 'ATP7B', 'score': 9.57}, {'connected_gene': 'TPTE2P2', 'score': 9.45}, {'connected_gene': 'FABP5P2', 'score': 0.39}, {'connected_gene': 'ENSG00000279677', 'score': 0.29}]
chr13	GH13I051977	51977756	51980327	0.87	[{'connected_gene': 'NEK3', 'score': 17.25}, {'connected_gene': 'ALG11', 'score': 11.57}, {'connected_gene': 'UTP14C', 'score': 11.53}, {'connected_gene': 'ATP7B', 'score': 11.15}, {'connected_gene': 'NEK5', 'score': 10.27}, {'connected_gene': 'FABP5P2', 'score': 0.39}]
chr13	GH13I052186	52186866	52189207	1.03	[{'connected_gene': 'NEK3', 'score': 18.07}, {'connected_gene': 'NEK5', 'score': 10.74}, {'connected_gene': 'CCDC70', 'score': 10.52}, {'connected_gene': 'ALG11', 'score': 10.5}, {'connected_gene': 'VPS36', 'score': 10.48}, {'connected_gene': 'ATP7B', 'score': 10.46}, {'connected_gene': 'DHRS12', 'score': 10.04}, {'connected_gene': 'ENSG00000231856', 'score': 10.04}, {'connected_gene': 'ENSG00000244471', 'score': 5.28}, {'connected_gene': 'MRPS31P5', 'score': 0.44}, {'connected_gene': 'PIR59389', 'score': 0.37}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]
chr13	GH13I052085	52085109	52085983	0.2	[{'connected_gene': 'NEK3', 'score': 24.22}, {'connected_gene': 'NEK5', 'score': 11.39}, {'connected_gene': 'ATP7B', 'score': 11.07}, {'connected_gene': 'ALG11', 'score': 11.07}, {'connected_gene': 'UTP14C', 'score': 10.96}, {'connected_gene': 'CCDC70', 'score': 9.91}, {'connected_gene': 'LOC101929657', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.22}, {'connected_gene': 'PIR48020', 'score': 0.22}]
chr13	GH13I052166	52166613	52168594	0.2	[{'connected_gene': 'THSD1P1', 'score': 550.77}, {'connected_gene': 'PIR59389', 'score': 550.77}, {'connected_gene': 'NEK5', 'score': 11.51}, {'connected_gene': 'TPTE2P2', 'score': 11.4}, {'connected_gene': 'DHRS12', 'score': 9.64}, {'connected_gene': 'ENSG00000231856', 'score': 9.64}, {'connected_gene': 'ENSG00000244471', 'score': 5.0}, {'connected_gene': 'NEK3', 'score': 0.44}, {'connected_gene': 'MRPS31P5', 'score': 0.31}, {'connected_gene': 'ENSG00000217576', 'score': 0.13}]
chr13	GH13I052127	52127505	52129603	1.95	[{'connected_gene': 'NEK5', 'score': 550.77}, {'connected_gene': 'LOC101929657', 'score': 550.77}, {'connected_gene': 'NEK3', 'score': 33.02}, {'connected_gene': 'TPTE2P2', 'score': 13.23}, {'connected_gene': 'ALG11', 'score': 11.02}, {'connected_gene': 'PIR48020', 'score': 0.15}, {'connected_gene': 'GC13P052032', 'score': 0.15}]