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
ENST00000355530	[[4336982, 4337461], [4342952, 4343018], [4348326, 4348463], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391503]]	[[4337262, 4337461], [4342952, 4343018], [4348326, 4348463], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391189]]
ENST00000333476	[[4337218, 4337461], [4342952, 4343018], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391498]]	[[4342997, 4343018], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391189]]
ENST00000576069	[[4337251, 4337461], [4342952, 4343018], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4356310, 4356500]]	None
ENST00000575194	[[4337257, 4337461], [4342952, 4343018], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391503]]	[[4337262, 4337461], [4342952, 4343018], [4349342, 4349494], [4350190, 4350257], [4351449, 4351574]]
ENST00000572078	[[4348270, 4348463], [4349342, 4349494], [4350190, 4350257], [4351449, 4351500]]	None
ENST00000575185	[[4349898, 4350257], [4351449, 4351586]]	None
ENST00000575796	[[4388311, 4388514], [4389522, 4389621], [4389706, 4389878], [4391100, 4391157]]	None
NM_001320449	[[4337218, 4337461], [4342952, 4343018], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391499]]	[[4342997, 4343018], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391189]]
NM_182538	[[4337218, 4337461], [4342952, 4343018], [4348326, 4348463], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391499]]	[[4337262, 4337461], [4342952, 4343018], [4348326, 4348463], [4349342, 4349494], [4350190, 4350257], [4351449, 4351598], [4352529, 4352682], [4356310, 4356500], [4381866, 4381932], [4389522, 4389621], [4389706, 4389878], [4391100, 4391189]]

Promoter

Chrom	Start	End	Description
chr17	4336955	4336986	CAGE_peak_2_at_SPNS3_5end
chr17	4337199	4337254	CAGE_peak_1_at_SPNS3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I004407	4407586	4408471	0.75	[{'connected_gene': 'ZNF232', 'score': 72.77}, {'connected_gene': 'LOC101927979', 'score': 68.11}, {'connected_gene': 'ANKFY1', 'score': 61.08}, {'connected_gene': 'ZNF594', 'score': 47.4}, {'connected_gene': 'LOC100130950', 'score': 41.23}, {'connected_gene': 'ZZEF1', 'score': 34.73}, {'connected_gene': 'MYBBP1A', 'score': 28.87}, {'connected_gene': 'PELP1', 'score': 24.66}, {'connected_gene': 'ENSG00000263220', 'score': 22.0}, {'connected_gene': 'LOC102724009', 'score': 20.35}, {'connected_gene': 'LOC105371492', 'score': 19.83}, {'connected_gene': 'INCA1', 'score': 13.75}, {'connected_gene': 'ENSG00000263164', 'score': 11.18}, {'connected_gene': 'ENSG00000235085', 'score': 10.94}, {'connected_gene': 'ENSG00000262678', 'score': 10.09}, {'connected_gene': 'CYB5D2', 'score': 4.84}, {'connected_gene': 'SPNS3', 'score': 0.31}, {'connected_gene': 'GC17P004368', 'score': 0.28}]
chr17	GH17I004373	4373765	4376490	1.31	[{'connected_gene': 'ANKFY1', 'score': 10.64}, {'connected_gene': 'CYB5D2', 'score': 6.49}, {'connected_gene': 'UBE2G1', 'score': 2.24}, {'connected_gene': 'GC17P004368', 'score': 0.44}, {'connected_gene': 'SPNS3', 'score': 0.22}]
chr17	GH17I004433	4433146	4434600	1.24	[{'connected_gene': 'SPNS3', 'score': 557.68}, {'connected_gene': 'SPNS2', 'score': 12.09}, {'connected_gene': 'ENSG00000229782', 'score': 12.09}, {'connected_gene': 'PIR52974', 'score': 0.44}]
chr17	GH17I004444	4444488	4445208	0.54	[{'connected_gene': 'SPNS3', 'score': 6.42}, {'connected_gene': 'PIR52974', 'score': 0.77}, {'connected_gene': 'ENSG00000262823', 'score': 0.26}]
chr17	GH17I004408	4407286	4407475	0.2	[{'connected_gene': 'SPNS3', 'score': 0.31}, {'connected_gene': 'GC17P004368', 'score': 0.28}]
chr17	GH17I004436	4436134	4437611	0.69	[{'connected_gene': 'SPNS3', 'score': 7.13}, {'connected_gene': 'PIR52974', 'score': 0.77}]
chr17	GH17I004412	4412844	4413895	1.08	[{'connected_gene': 'SPNS3', 'score': 0.34}, {'connected_gene': 'GC17P004368', 'score': 0.26}]
chr17	GH17I004420	4420620	4421056	1	[{'connected_gene': 'SPNS2', 'score': 12.51}, {'connected_gene': 'ENSG00000229782', 'score': 12.51}, {'connected_gene': 'SPNS3', 'score': 6.05}, {'connected_gene': 'GC17P004368', 'score': 0.23}]
chr17	GH17I004429	4429356	4430335	0.38	[{'connected_gene': 'SPNS2', 'score': 12.09}, {'connected_gene': 'ENSG00000229782', 'score': 12.09}, {'connected_gene': 'SPNS3', 'score': 8.29}, {'connected_gene': 'GC17P004368', 'score': 0.21}]
chr17	GH17I004498	4498269	4501580	2.24	[{'connected_gene': 'SPNS2', 'score': 554.44}, {'connected_gene': 'ENSG00000229782', 'score': 550.77}, {'connected_gene': 'LOC100130950', 'score': 20.4}, {'connected_gene': 'RPAIN', 'score': 13.94}, {'connected_gene': 'ZNF594', 'score': 13.02}, {'connected_gene': 'ENSG00000263272', 'score': 12.55}, {'connected_gene': 'ZNF232', 'score': 10.63}, {'connected_gene': 'PELP1', 'score': 10.27}, {'connected_gene': 'ENSG00000263164', 'score': 10.01}, {'connected_gene': 'SPNS3', 'score': 5.27}, {'connected_gene': 'DHX33', 'score': 4.29}, {'connected_gene': 'GC17M004505', 'score': 0.44}, {'connected_gene': 'PIR54894', 'score': 0.44}]
chr17	GH17I004475	4475174	4484305	1.21	[{'connected_gene': 'GGT6', 'score': 11.03}, {'connected_gene': 'TAX1BP3', 'score': 6.62}, {'connected_gene': 'SPNS3', 'score': 4.6}, {'connected_gene': 'PFN1', 'score': 4.24}, {'connected_gene': 'ENSG00000262823', 'score': 0.44}, {'connected_gene': 'PIR52974', 'score': 0.28}]
chr17	GH17I004393	4393447	4398090	1.28	[{'connected_gene': 'LINC01975', 'score': 5.11}, {'connected_gene': 'UBE2G1', 'score': 2.75}, {'connected_gene': 'MYBBP1A', 'score': 1.44}, {'connected_gene': 'GC17P004368', 'score': 0.31}, {'connected_gene': 'SPNS3', 'score': 0.28}]
chr17	GH17I004388	4388784	4389493	0.31	[{'connected_gene': 'GC17P004368', 'score': 0.34}, {'connected_gene': 'SPNS3', 'score': 0.26}]
chr17	GH17I004473	4473726	4474616	0.4	[{'connected_gene': 'ENSG00000262823', 'score': 0.39}, {'connected_gene': 'PIR52974', 'score': 0.29}, {'connected_gene': 'SPNS3', 'score': 0.26}]
chr17	GH17I004454	4454386	4454555	0.79	[{'connected_gene': 'PIR52974', 'score': 0.39}, {'connected_gene': 'SPNS3', 'score': 0.34}, {'connected_gene': 'ENSG00000262823', 'score': 0.29}]
chr17	GH17I004442	4441426	4441575	0.2	[{'connected_gene': 'PIR52974', 'score': 550.77}, {'connected_gene': 'SPNS3', 'score': 8.02}, {'connected_gene': 'ENSG00000262823', 'score': 0.26}]
chr17	GH17I004440	4440319	4440880	0.63	[{'connected_gene': 'PIR52974', 'score': 550.77}, {'connected_gene': 'SPNS3', 'score': 7.76}]
chr17	GH17I004441	4441066	4441215	0.38	[{'connected_gene': 'PIR52974', 'score': 550.77}, {'connected_gene': 'SPNS3', 'score': 0.44}]
chr17	GH17I004485	4485601	4487000	0.6	[{'connected_gene': 'ENSG00000262823', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 11.13}, {'connected_gene': 'PIR52974', 'score': 0.26}, {'connected_gene': 'SPNS3', 'score': 0.23}]
chr17	GH17I004484	4484598	4484908	0.2	[{'connected_gene': 'ENSG00000262823', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 11.04}, {'connected_gene': 'PIR52974', 'score': 0.26}, {'connected_gene': 'SPNS3', 'score': 0.23}]
chr17	GH17I004487	4487273	4488575	0.2	[{'connected_gene': 'ENSG00000262823', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 16.49}, {'connected_gene': 'SPNS2', 'score': 0.39}, {'connected_gene': 'SPNS3', 'score': 0.23}]