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

Promoter

Chrom	Start	End	Description
chr2	70520539	70520585	CAGE_peak_3_at_SNRPG_5end
chr2	70520810	70520831	CAGE_peak_2_at_SNRPG_5end
chr2	70520832	70520881	CAGE_peak_1_at_SNRPG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070291	70291167	70295237	2.1	[{'connected_gene': 'SNRPG', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 34.02}, {'connected_gene': 'CLEC4F', 'score': 32.44}, {'connected_gene': 'TEX261', 'score': 30.91}, {'connected_gene': 'TIA1', 'score': 28.03}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'PCYOX1', 'score': 13.45}, {'connected_gene': 'C2orf42', 'score': 11.83}, {'connected_gene': 'NAGK', 'score': 10.52}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.02}, {'connected_gene': 'GC02P070271', 'score': 0.34}]
chr2	GH02I069945	69944802	69949062	1.66	[{'connected_gene': 'MXD1', 'score': 27.1}, {'connected_gene': 'SNRNP27', 'score': 19.11}, {'connected_gene': 'ASPRV1', 'score': 17.38}, {'connected_gene': 'TIA1', 'score': 11.96}, {'connected_gene': 'PCBP1', 'score': 10.33}, {'connected_gene': 'GMCL1', 'score': 9.54}, {'connected_gene': 'SNRPG', 'score': 5.68}, {'connected_gene': 'PIR33848', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.13}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000272348	[[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520903]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
ENST00000429728	[[70508498, 70508816], [70515199, 70515324], [70520749, 70520872]]	None
ENST00000482975	[[70508635, 70508816], [70515199, 70515324], [70516481, 70516504], [70519806, 70520570]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
ENST00000438261	[[70508636, 70508816], [70515199, 70515324], [70516481, 70516504], [70518412, 70518441], [70520422, 70520580]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
ENST00000449935	[[70508638, 70508816], [70515199, 70515324], [70516481, 70516504], [70519806, 70519908]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
ENST00000413456	[[70508638, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520356]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520292]]
ENST00000454893	[[70508638, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520843]]	[[70508812, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
ENST00000480370	[[70514939, 70515324], [70520749, 70520851]]	None
ENST00000488400	[[70515067, 70515324], [70516481, 70516504], [70520749, 70520862]]	None
NM_001317167	[[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520356]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520292]]
NM_001317168	[[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70519806, 70520590]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
NM_001317169	[[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70518412, 70518441], [70520422, 70520590]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
NM_001317165	[[70508493, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520903]]	[[70508812, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
NM_003096	[[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520903]]	[[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
NM_001317166	[[70508493, 70508816], [70515202, 70515324], [70516481, 70516504], [70520749, 70520903]]	[[70508765, 70508816], [70515202, 70515324], [70516481, 70516504], [70520749, 70520781]]
NM_001317171	[[70508493, 70508816], [70515199, 70515324], [70520749, 70520903]]	[[70508765, 70508816], [70515199, 70515324], [70520749, 70520750]]