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
ENST00000553514	[[92582465, 92582573], [92583841, 92583986], [92585192, 92585310], [92587985, 92588068]]	[[92582536, 92582573], [92583841, 92583981]]
ENST00000329559	[[92582466, 92582573], [92583841, 92583986], [92587985, 92588261]]	[[92582536, 92582573], [92583841, 92583986], [92587985, 92588121]]
ENST00000605997	[[92582468, 92582573], [92583841, 92583986], [92587985, 92588071]]	[[92582536, 92582573], [92583841, 92583981]]
ENST00000553666	[[92582469, 92582573], [92583841, 92585070]]	None
ENST00000555441	[[92582469, 92582573], [92583841, 92583986], [92587539, 92587748]]	[[92582536, 92582573], [92583841, 92583981]]
ENST00000556555	[[92586674, 92586760], [92587555, 92588037]]	None
NM_004545	[[92582466, 92582573], [92583841, 92583986], [92587985, 92588153]]	[[92582536, 92582573], [92583841, 92583986], [92587985, 92588121]]

Promoter

Chrom	Start	End	Description
chr14	92588013	92588077	CAGE_peak_1_at_NDUFB1_5end
chr14	92588246	92588276	CAGE_peak_2_at_NDUFB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I092038	92038192	92041517	2.05	[{'connected_gene': 'TRIP11', 'score': 568.95}, {'connected_gene': 'PIR36842', 'score': 550.77}, {'connected_gene': 'PPP4R3A', 'score': 38.03}, {'connected_gene': 'ATXN3', 'score': 30.7}, {'connected_gene': 'CPSF2', 'score': 18.9}, {'connected_gene': 'GOLGA5', 'score': 10.93}, {'connected_gene': 'TC2N', 'score': 10.43}, {'connected_gene': 'CATSPERB', 'score': 10.12}, {'connected_gene': 'NDUFB1', 'score': 5.07}, {'connected_gene': 'GC14P091891', 'score': 0.11}]
chr14	GH14I092153	92153737	92153886	0.49	[{'connected_gene': 'CPSF2', 'score': 10.69}, {'connected_gene': 'NDUFB1', 'score': 10.69}, {'connected_gene': 'TRIP11', 'score': 10.07}, {'connected_gene': 'GC14P092168', 'score': 0.39}]
chr14	GH14I092674	92674047	92674464	0.4	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'PIR35810', 'score': 0.15}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14	GH14I092672	92672220	92673212	0.2	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'PIR35810', 'score': 0.15}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.06}]
chr14	GH14I092669	92669357	92671635	0.89	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'PIR35810', 'score': 0.16}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.06}]
chr14	GH14I092675	92675251	92678129	1.25	[{'connected_gene': 'CPSF2', 'score': 10.51}, {'connected_gene': 'NDUFB1', 'score': 10.51}, {'connected_gene': 'GC14P092700', 'score': 0.34}, {'connected_gene': 'PIR35810', 'score': 0.15}, {'connected_gene': 'RIN3', 'score': 0.1}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14	GH14I092120	92120600	92123563	2.05	[{'connected_gene': 'CPSF2', 'score': 585.12}, {'connected_gene': 'NDUFB1', 'score': 575.98}, {'connected_gene': 'ATXN3', 'score': 19.51}, {'connected_gene': 'PPP4R3A', 'score': 17.38}, {'connected_gene': 'TRIP11', 'score': 15.57}, {'connected_gene': 'GC14P092168', 'score': 0.25}]
chr14	GH14I091941	91941355	91942703	0.38	[{'connected_gene': 'CPSF2', 'score': 5.52}, {'connected_gene': 'NDUFB1', 'score': 5.43}, {'connected_gene': 'FBLN5', 'score': 0.44}, {'connected_gene': 'GC14M092130', 'score': 0.25}, {'connected_gene': 'GC14P091891', 'score': 0.23}]
chr14	GH14I092160	92160277	92161466	0.43	[{'connected_gene': 'NDUFB1', 'score': 25.49}, {'connected_gene': 'CPSF2', 'score': 16.4}, {'connected_gene': 'ATXN3', 'score': 11.13}, {'connected_gene': 'GC14P092168', 'score': 0.44}]
chr14	GH14I091942	91942710	91944215	0.43	[{'connected_gene': 'NDUFB1', 'score': 6.59}, {'connected_gene': 'FBLN5', 'score': 0.77}, {'connected_gene': 'GC14M092130', 'score': 0.25}, {'connected_gene': 'GC14P091891', 'score': 0.23}]
chr14	GH14I092105	92105075	92107306	2.34	[{'connected_gene': 'ATXN3', 'score': 576.77}, {'connected_gene': 'PPP4R3A', 'score': 31.93}, {'connected_gene': 'CPSF2', 'score': 11.13}, {'connected_gene': 'NDUFB1', 'score': 10.46}, {'connected_gene': 'TRIP11', 'score': 10.19}, {'connected_gene': 'RIN3', 'score': 6.19}, {'connected_gene': 'SLC24A4', 'score': 6.01}, {'connected_gene': 'CATSPERB', 'score': 1.24}]
chr14	GH14I092107	92107866	92109219	0.89	[{'connected_gene': 'ATXN3', 'score': 564.91}, {'connected_gene': 'NDUFB1', 'score': 0.39}]
chr14	GH14I091929	91929621	91933267	0.31	[{'connected_gene': 'TC2N', 'score': 16.54}, {'connected_gene': 'TRIP11', 'score': 14.53}, {'connected_gene': 'NDUFB1', 'score': 4.65}, {'connected_gene': 'CPSF2', 'score': 4.38}, {'connected_gene': 'FBLN5', 'score': 0.37}, {'connected_gene': 'GC14P091891', 'score': 0.28}, {'connected_gene': 'GC14M092130', 'score': 0.28}]
chr14	GH14I091984	91984597	91985600	0.87	[{'connected_gene': 'FBLN5', 'score': 10.65}, {'connected_gene': 'TRIP11', 'score': 10.12}, {'connected_gene': 'TC2N', 'score': 9.89}, {'connected_gene': 'CPSF2', 'score': 9.49}, {'connected_gene': 'NDUFB1', 'score': 9.49}, {'connected_gene': 'SLC24A4', 'score': 5.14}, {'connected_gene': 'PPP4R3A', 'score': 2.27}, {'connected_gene': 'ATXN3', 'score': 2.23}, {'connected_gene': 'PTMAP7', 'score': 0.26}, {'connected_gene': 'GC14P091891', 'score': 0.16}]