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
ENST00000394412	[[90171207, 90172017], [90172206, 90172353], [90172605, 90172804], [90173517, 90173724], [90174725, 90174941], [90176050, 90176227], [90176371, 90176497], [90176916, 90177114], [90185433, 90185636], [90188243, 90188396], [90188566, 90188682], [90189123, 90189257], [90190060, 90190288], [90190826, 90190943], [90191485, 90192005], [90192204, 90192598], [90192971, 90193172], [90195833, 90196185], [90198629, 90198682]]	[[90171649, 90172017], [90172206, 90172353], [90172605, 90172804], [90173517, 90173724], [90174725, 90174941], [90176050, 90176227], [90176371, 90176497], [90176916, 90177114], [90185433, 90185636], [90188243, 90188396], [90188566, 90188682], [90189123, 90189257], [90190060, 90190288], [90190826, 90190943], [90191485, 90192005], [90192204, 90192598], [90192971, 90193172], [90195833, 90196161]]
ENST00000558928	[[90152019, 90152199], [90161259, 90161426], [90171831, 90172011]]	None
ENST00000445906	[[90191733, 90192005], [90192204, 90192598], [90192971, 90193275], [90195833, 90196185], [90198629, 90198682]]	[[90193159, 90193275], [90195833, 90196161]]
NM_198525	[[90171200, 90172017], [90172206, 90172353], [90172605, 90172804], [90173517, 90173724], [90174725, 90174941], [90176050, 90176227], [90176371, 90176497], [90176916, 90177114], [90185433, 90185636], [90188243, 90188396], [90188566, 90188682], [90189123, 90189257], [90190060, 90190288], [90190826, 90190943], [90191485, 90192005], [90192204, 90192598], [90192971, 90193172], [90195833, 90196185], [90198629, 90198682]]	[[90171649, 90172017], [90172206, 90172353], [90172605, 90172804], [90173517, 90173724], [90174725, 90174941], [90176050, 90176227], [90176371, 90176497], [90176916, 90177114], [90185433, 90185636], [90188243, 90188396], [90188566, 90188682], [90189123, 90189257], [90190060, 90190288], [90190826, 90190943], [90191485, 90192005], [90192204, 90192598], [90192971, 90193172], [90195833, 90196161]]

Promoter

Chrom	Start	End	Description
chr15	90198659	90198713	CAGE_peak_1_at_KIF7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I089574	89574601	89578263	2.03	[{'connected_gene': 'TICRR', 'score': 561.71}, {'connected_gene': 'POLG', 'score': 42.28}, {'connected_gene': 'LOC100631255', 'score': 27.43}, {'connected_gene': 'FANCI', 'score': 10.42}, {'connected_gene': 'KIF7', 'score': 5.72}, {'connected_gene': 'GC15M089580', 'score': 0.77}, {'connected_gene': 'ENSG00000259713', 'score': 0.22}]
chr15	GH15I089664	89664802	89666856	0.89	[{'connected_gene': 'PEX11A', 'score': 11.81}, {'connected_gene': 'WDR93', 'score': 11.81}, {'connected_gene': 'RPL36AP43', 'score': 11.81}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 7.98}, {'connected_gene': 'KIF7', 'score': 0.77}, {'connected_gene': 'PLIN1', 'score': 0.39}]
chr15	GH15I089646	89646611	89649544	1.06	[{'connected_gene': 'FANCI', 'score': 12.25}, {'connected_gene': 'HMGB1P8', 'score': 11.05}, {'connected_gene': 'ENSG00000259314', 'score': 10.75}, {'connected_gene': 'ENSG00000259212', 'score': 9.73}, {'connected_gene': 'TICRR', 'score': 7.51}, {'connected_gene': 'KIF7', 'score': 5.76}, {'connected_gene': 'ENSG00000259615', 'score': 0.2}]
chr15	GH15I089680	89679357	89679416	0.88	[{'connected_gene': 'PLIN1', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 0.39}, {'connected_gene': 'KIF7', 'score': 0.37}]
chr15	GH15I089673	89673230	89673379	0.77	[{'connected_gene': 'PLIN1', 'score': 0.44}, {'connected_gene': 'KIF7', 'score': 0.39}]
chr15	GH15I089671	89671386	89671624	0.4	[{'connected_gene': 'PLIN1', 'score': 5.95}, {'connected_gene': 'KIF7', 'score': 0.44}]
chr15	GH15I089565	89565041	89567619	0.56	[{'connected_gene': 'KIF7', 'score': 16.65}, {'connected_gene': 'TICRR', 'score': 10.63}, {'connected_gene': 'PLIN1', 'score': 9.85}, {'connected_gene': 'LINC00928', 'score': 0.26}, {'connected_gene': 'ENSG00000259713', 'score': 0.25}]
chr15	GH15I089654	89654328	89656442	2.12	[{'connected_gene': 'KIF7', 'score': 551.92}, {'connected_gene': 'TICRR', 'score': 7.75}, {'connected_gene': 'MIR9-3HG', 'score': 4.47}, {'connected_gene': 'ENSG00000259615', 'score': 0.19}]
chr15	GH15I089662	89662307	89664199	0.66	[{'connected_gene': 'KIF7', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 11.79}, {'connected_gene': 'WDR93', 'score': 11.79}, {'connected_gene': 'RPL36AP43', 'score': 11.79}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 4.79}, {'connected_gene': 'ENSG00000228998', 'score': 4.61}, {'connected_gene': 'PLIN1', 'score': 0.37}]
chr15	GH15I089541	89541354	89544177	0.38	[{'connected_gene': 'KIF7', 'score': 5.5}, {'connected_gene': 'FANCI', 'score': 4.76}, {'connected_gene': 'LINC00928', 'score': 0.37}, {'connected_gene': 'ENSG00000259713', 'score': 0.34}, {'connected_gene': 'TICRR', 'score': 0.29}]
chr15	GH15I089892	89892772	89895042	2.15	[{'connected_gene': 'AP3S2', 'score': 564.22}, {'connected_gene': 'POLG', 'score': 65.57}, {'connected_gene': 'ENSG00000259314', 'score': 42.43}, {'connected_gene': 'LOC100631255', 'score': 35.45}, {'connected_gene': 'NIFKP5', 'score': 29.49}, {'connected_gene': 'FANCI', 'score': 24.76}, {'connected_gene': 'ENSG00000259212', 'score': 22.82}, {'connected_gene': 'RPL36AP43', 'score': 22.75}, {'connected_gene': 'KIF7', 'score': 22.7}, {'connected_gene': 'ARPIN', 'score': 21.28}, {'connected_gene': 'WDR93', 'score': 13.56}, {'connected_gene': 'CRTC3', 'score': 12.9}, {'connected_gene': 'TICRR', 'score': 10.11}, {'connected_gene': 'MFGE8', 'score': 10.1}, {'connected_gene': 'GC15M089889', 'score': 0.44}, {'connected_gene': 'PIR40995', 'score': 0.44}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.37}]
chr15	GH15I089587	89587387	89588557	0.69	[{'connected_gene': 'ENSG00000259615', 'score': 0.44}, {'connected_gene': 'TICRR', 'score': 0.39}, {'connected_gene': 'ENSG00000259713', 'score': 0.2}, {'connected_gene': 'KIF7', 'score': 0.18}]
chr15	GH15I089412	89412870	89413666	0.49	[{'connected_gene': 'ENSG00000173867', 'score': 19.85}, {'connected_gene': 'RPL36AP43', 'score': 13.69}, {'connected_gene': 'MIR9-3', 'score': 12.36}, {'connected_gene': 'MIR9-3HG', 'score': 12.35}, {'connected_gene': 'KIF7', 'score': 12.28}, {'connected_gene': 'DET1', 'score': 12.03}, {'connected_gene': 'ARPIN', 'score': 10.07}, {'connected_gene': 'GC15M089390', 'score': 0.39}, {'connected_gene': 'LOC105371031', 'score': 0.39}]
chr15	GH15I089204	89204503	89205625	0.31	[{'connected_gene': 'GC15P089217', 'score': 550.77}, {'connected_gene': 'GC15P089216', 'score': 550.77}, {'connected_gene': 'GC15P089215', 'score': 550.77}, {'connected_gene': 'ENSG00000173867', 'score': 19.85}, {'connected_gene': 'RPL36AP43', 'score': 13.67}, {'connected_gene': 'KIF7', 'score': 12.26}, {'connected_gene': 'DET1', 'score': 12.04}, {'connected_gene': 'FANCI', 'score': 11.87}, {'connected_gene': 'ARPIN', 'score': 10.05}, {'connected_gene': 'POLG', 'score': 9.98}]