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
ENST00000378802	[[187112673, 187113191], [187115653, 187115766], [187117156, 187117242], [187118093, 187118284], [187118686, 187118756], [187120110, 187120237], [187122310, 187122496], [187126353, 187126456], [187130018, 187130153], [187130246, 187130426], [187131622, 187131955]]	[[187112977, 187113191], [187115653, 187115766], [187117156, 187117242], [187118093, 187118284], [187118686, 187118756], [187120110, 187120237], [187122310, 187122496], [187126353, 187126456], [187130018, 187130153], [187130246, 187130426], [187131622, 187131795]]
ENST00000507209	[[187117241, 187118756], [187120110, 187120237], [187122310, 187126456], [187130018, 187130153], [187130246, 187130426], [187131622, 187134165]]	None
ENST00000513354	[[187125534, 187125611], [187126353, 187126456], [187130018, 187130153], [187130246, 187130426], [187131622, 187132189]]	None
ENST00000502665	[[187125990, 187126212], [187126353, 187126456], [187130018, 187130153], [187130246, 187130426], [187131622, 187134610]]	None
NM_207352	[[187112673, 187113191], [187115653, 187115766], [187117156, 187117242], [187118093, 187118284], [187118686, 187118756], [187120110, 187120237], [187122310, 187122496], [187126353, 187126456], [187130018, 187130153], [187130246, 187130426], [187131622, 187134617]]	[[187112977, 187113191], [187115653, 187115766], [187117156, 187117242], [187118093, 187118284], [187118686, 187118756], [187120110, 187120237], [187122310, 187122496], [187126353, 187126456], [187130018, 187130153], [187130246, 187130426], [187131622, 187131795]]

Promoter

Chrom	Start	End	Description
chr4	187112411	187112444	CAGE_peak_7_at_CYP4V2_5end
chr4	187112450	187112470	CAGE_peak_5_at_CYP4V2_5end
chr4	187112479	187112511	CAGE_peak_8_at_CYP4V2_5end
chr4	187112676	187112698	CAGE_peak_6_at_CYP4V2_5end
chr4	187112703	187112776	CAGE_peak_1_at_CYP4V2_5end
chr4	187112780	187112807	CAGE_peak_3_at_CYP4V2_5end
chr4	187112824	187112838	CAGE_peak_4_at_CYP4V2_5end
chr4	187112931	187112974	CAGE_peak_2_at_CYP4V2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I186246	186246017	186252583	1.06	[{'connected_gene': 'KLKB1', 'score': 15.44}, {'connected_gene': 'CYP4V2', 'score': 11.57}, {'connected_gene': 'F11', 'score': 8.19}, {'connected_gene': 'GC04M186242', 'score': 0.44}]
chr4	GH04I186260	186260003	186261802	0.87	[{'connected_gene': 'KLKB1', 'score': 11.64}, {'connected_gene': 'CYP4V2', 'score': 7.79}, {'connected_gene': 'F11', 'score': 0.44}, {'connected_gene': 'GC04M186242', 'score': 0.37}]
chr4	GH04I186189	186189140	186193515	2.26	[{'connected_gene': 'CYP4V2', 'score': 599.44}, {'connected_gene': 'FLJ38576', 'score': 550.77}, {'connected_gene': 'FAM149A', 'score': 30.43}, {'connected_gene': 'KLKB1', 'score': 28.16}, {'connected_gene': 'SNX25', 'score': 11.07}, {'connected_gene': 'ORAOV1P1', 'score': 0.34}]
chr4	GH04I186201	186201566	186202513	1.18	[{'connected_gene': 'CYP4V2', 'score': 17.34}, {'connected_gene': 'KLKB1', 'score': 0.44}, {'connected_gene': 'FLJ38576', 'score': 0.39}]
chr4	GH04I186203	186203142	186206315	1.53	[{'connected_gene': 'CYP4V2', 'score': 27.28}, {'connected_gene': 'KLKB1', 'score': 5.67}, {'connected_gene': 'FLJ38576', 'score': 0.39}]
chr4	GH04I186143	186143972	186145868	1.7	[{'connected_gene': 'FAM149A', 'score': 587.19}, {'connected_gene': 'CYP4V2', 'score': 11.52}, {'connected_gene': 'TLR3', 'score': 10.75}, {'connected_gene': 'ENSG00000253013', 'score': 0.39}, {'connected_gene': 'RPSAP70', 'score': 0.39}]
chr4	GH04I186150	186150067	186150296	0.46	[{'connected_gene': 'FAM149A', 'score': 17.23}, {'connected_gene': 'ENSG00000253013', 'score': 11.83}, {'connected_gene': 'CYP4V2', 'score': 11.12}, {'connected_gene': 'TLR3', 'score': 10.74}, {'connected_gene': 'RPSAP70', 'score': 0.44}]
chr4	GH04I186058	186058807	186058936	0.49	[{'connected_gene': 'ENSG00000253013', 'score': 11.19}, {'connected_gene': 'CYP4V2', 'score': 10.26}, {'connected_gene': 'SORBS2', 'score': 9.76}, {'connected_gene': 'TLR3', 'score': 0.39}, {'connected_gene': 'RNU4-64P', 'score': 0.29}]
chr4	GH04I186080	186080787	186082070	0.58	[{'connected_gene': 'GC04P186084', 'score': 550.77}, {'connected_gene': 'GC04P186083', 'score': 550.77}, {'connected_gene': 'GC04P186085', 'score': 550.77}, {'connected_gene': 'GC04P186087', 'score': 550.77}, {'connected_gene': 'GC04P186086', 'score': 550.77}, {'connected_gene': 'ENSG00000253013', 'score': 10.71}, {'connected_gene': 'CYP4V2', 'score': 9.71}, {'connected_gene': 'TLR3', 'score': 0.39}]
chr4	GH04I186240	186240442	186245747	0.58	[{'connected_gene': 'GC04M186242', 'score': 550.77}, {'connected_gene': 'CYP4V2', 'score': 20.31}, {'connected_gene': 'KLKB1', 'score': 13.59}, {'connected_gene': 'F11', 'score': 7.23}]
chr4	GH04I186078	186078587	186079927	0.49	[{'connected_gene': 'ENSG00000253013', 'score': 10.69}, {'connected_gene': 'CYP4V2', 'score': 9.7}, {'connected_gene': 'FAT1', 'score': 5.46}, {'connected_gene': 'GC04P186084', 'score': 0.77}, {'connected_gene': 'GC04P186083', 'score': 0.77}, {'connected_gene': 'GC04P186085', 'score': 0.77}, {'connected_gene': 'GC04P186087', 'score': 0.77}, {'connected_gene': 'GC04P186086', 'score': 0.77}, {'connected_gene': 'TLR3', 'score': 0.39}]