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
ENST00000376819	[[11249397, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11256038]]	[[11249636, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11255080]]
ENST00000476934	[[11253683, 11253831], [11254582, 11254716], [11254910, 11255235]]	None
NM_021146	[[11249345, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11256038]]	[[11249636, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11255080]]

Promoter

Chrom	Start	End	Description
chr1	11249404	11249419	CAGE_peak_1_at_ANGPTL7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I010790	10790625	10797001	3.32	[{'connected_gene': 'CASZ1', 'score': 554.83}, {'connected_gene': 'TARDBP', 'score': 35.65}, {'connected_gene': 'ANGPTL7', 'score': 23.91}, {'connected_gene': 'ENSG00000226849', 'score': 22.91}, {'connected_gene': 'CLSTN1', 'score': 14.16}, {'connected_gene': 'UBIAD1', 'score': 11.63}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'EXOSC10', 'score': 10.19}, {'connected_gene': 'GC01P010673', 'score': 0.13}]
chr1	GH01I011011	11011373	11014805	2.09	[{'connected_gene': 'TARDBP', 'score': 570.93}, {'connected_gene': 'ENSG00000277726', 'score': 550.77}, {'connected_gene': 'ENSG00000226849', 'score': 22.12}, {'connected_gene': 'CLCN6', 'score': 20.18}, {'connected_gene': 'EXOSC10', 'score': 10.58}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'DFFA', 'score': 10.15}, {'connected_gene': 'MASP2', 'score': 9.96}, {'connected_gene': 'ANGPTL7', 'score': 5.96}, {'connected_gene': 'ENSG00000271895', 'score': 5.04}]
chr1	GH01I011175	11175715	11179292	1.35	[{'connected_gene': 'CLCN6', 'score': 36.78}, {'connected_gene': 'ENSG00000226849', 'score': 21.64}, {'connected_gene': 'ANGPTL7', 'score': 14.03}, {'connected_gene': 'ENSG00000271895', 'score': 12.31}, {'connected_gene': 'MTOR', 'score': 11.76}, {'connected_gene': 'TARDBP', 'score': 10.41}, {'connected_gene': 'FBXO44', 'score': 10.3}, {'connected_gene': 'EXOSC10', 'score': 10.19}, {'connected_gene': 'RNU6-537P', 'score': 0.31}]
chr1	GH01I011045	11045504	11046959	0.7	[{'connected_gene': 'MASP2', 'score': 550.77}, {'connected_gene': 'ANGPTL7', 'score': 9.08}, {'connected_gene': 'ENSG00000226849', 'score': 9.05}, {'connected_gene': 'GC01P011041', 'score': 0.44}]
chr1	GH01I011150	11150971	11153283	0.52	[{'connected_gene': 'RNU6-537P', 'score': 550.77}, {'connected_gene': 'ANGPTL7', 'score': 14.02}, {'connected_gene': 'C1orf127', 'score': 9.85}, {'connected_gene': 'ENSG00000226849', 'score': 9.15}, {'connected_gene': 'MTOR-AS1', 'score': 0.44}, {'connected_gene': 'MTOR', 'score': 0.14}]
chr1	GH01I010753	10753295	10753740	0.76	[{'connected_gene': 'ANGPTL7', 'score': 25.13}, {'connected_gene': 'CASZ1', 'score': 1.98}, {'connected_gene': 'GC01P010673', 'score': 0.18}]
chr1	GH01I010789	10789750	10790084	0.81	[{'connected_gene': 'ANGPTL7', 'score': 16.74}, {'connected_gene': 'CASZ1', 'score': 5.05}, {'connected_gene': 'GC01P010673', 'score': 0.13}]
chr1	GH01I010706	10706333	10706780	0.58	[{'connected_gene': 'ANGPTL7', 'score': 5.48}, {'connected_gene': 'CASZ1', 'score': 3.0}, {'connected_gene': 'GC01P010673', 'score': 0.29}]
chr1	GH01I011156	11156758	11159530	0.69	[{'connected_gene': 'ANGPTL7', 'score': 10.99}, {'connected_gene': 'MTOR', 'score': 10.95}, {'connected_gene': 'C1orf127', 'score': 9.85}, {'connected_gene': 'ENSG00000226849', 'score': 9.14}, {'connected_gene': 'EXOSC10', 'score': 5.23}, {'connected_gene': 'RNU6-537P', 'score': 0.44}]
chr1	GH01I011189	11189306	11189365	0.81	[{'connected_gene': 'ANGPTL7', 'score': 550.77}, {'connected_gene': 'GC01P011226', 'score': 0.28}, {'connected_gene': 'MTOR', 'score': 0.19}, {'connected_gene': 'GC01M011183', 'score': 0.15}]
chr1	GH01I011180	11180369	11180652	0.63	[{'connected_gene': 'ANGPTL7', 'score': 0.44}, {'connected_gene': 'RNU6-537P', 'score': 0.31}, {'connected_gene': 'MTOR', 'score': 0.18}]
chr1	GH01I011174	11174384	11174533	0.51	[{'connected_gene': 'ANGPTL7', 'score': 0.39}, {'connected_gene': 'RNU6-537P', 'score': 0.34}, {'connected_gene': 'MTOR', 'score': 0.17}]
chr1	GH01I011285	11285011	11287604	0.54	[{'connected_gene': 'PIR33705', 'score': 550.77}, {'connected_gene': 'ANGPTL7', 'score': 9.96}, {'connected_gene': 'EXOSC10', 'score': 4.85}, {'connected_gene': 'MASP2', 'score': 4.67}, {'connected_gene': 'GC01M011183', 'score': 0.77}, {'connected_gene': 'UBE2V2P3', 'score': 0.44}, {'connected_gene': 'UBIAD1', 'score': 0.39}]