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
ENST00000524160	[[55702722, 55703041], [55703306, 55703353], [55724694, 55724800], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55783320, 55783454], [55789909, 55790057], [55790404, 55790539]]	[[55742529, 55742565], [55783320, 55783454], [55789909, 55790057], [55790404, 55790527]]
ENST00000448430	[[55709952, 55710331], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790546]]	[[55710232, 55710331], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790527]]
ENST00000380679	[[55709957, 55710331], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790782], [55800319, 55800432]]	[[55710232, 55710331], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790527]]
ENST00000457155	[[55722505, 55722977], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790575]]	[[55722893, 55722977], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790527]]
ENST00000348518	[[55722505, 55722977], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790782], [55800319, 55800432]]	[[55722893, 55722977], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790527]]
ENST00000321149	[[55722505, 55722977], [55724694, 55724800], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790782], [55800319, 55800432]]	[[55722867, 55722977], [55724694, 55724800], [55727102, 55727256], [55731669, 55731779], [55742419, 55742565], [55759127, 55759359], [55783320, 55783454], [55789909, 55790057], [55790404, 55790527]]
ENST00000522437	[[55759158, 55759359], [55783320, 55783454], [55787325, 55787400], [55789909, 55790008], [55790404, 55790567]]	[[55789915, 55790008], [55790404, 55790527]]
ENST00000519017	[[55783216, 55783454], [55789909, 55790057], [55790404, 55790542]]	None

Promoter

Chrom	Start	End	Description
chr15	55700459	55700520	CAGE_peak_1_at_CCPG1_5end,CAGE_peak_1_at_DYX1C1-CCPG1_5end,CAGE_peak_1_at_DYX1C1_5end
chr15	55700522	55700573	CAGE_peak_2_at_CCPG1_5end,CAGE_peak_2_at_DYX1C1-CCPG1_5end,CAGE_peak_2_at_DYX1C1_5end
chr15	55790515	55790605	CAGE_peak_3_at_CCPG1_5end,CAGE_peak_3_at_DYX1C1-CCPG1_5end,CAGE_peak_3_at_DYX1C1_5end
chr15	55790788	55790791	CAGE_peak_28_at_CCPG1_5end,CAGE_peak_5_at_DYX1C1-CCPG1_5end,CAGE_peak_5_at_DYX1C1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I055265	55265250	55269805	1.41	[{'connected_gene': 'PIGB', 'score': 16.86}, {'connected_gene': 'RAB27A', 'score': 9.22}, {'connected_gene': 'DNAAF4', 'score': 6.42}, {'connected_gene': 'GC15P055286', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.26}]
chr15	GH15I055317	55317728	55320776	2.08	[{'connected_gene': 'PIGB', 'score': 606.56}, {'connected_gene': 'PIGBOS1', 'score': 569.61}, {'connected_gene': 'RAB27A', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'DNAAF4', 'score': 6.55}, {'connected_gene': 'ENSG00000274765', 'score': 0.34}]
chr15	GH15I055394	55394803	55394952	0.49	[{'connected_gene': 'MIR628', 'score': 11.53}, {'connected_gene': 'C15orf65', 'score': 7.85}, {'connected_gene': 'DNAAF4', 'score': 4.72}, {'connected_gene': 'GC15M057427', 'score': 0.77}, {'connected_gene': 'CCPG1', 'score': 0.39}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.15}]
chr15	GH15I055288	55288097	55291177	2.49	[{'connected_gene': 'RAB27A', 'score': 566.34}, {'connected_gene': 'ENSG00000276533', 'score': 550.77}, {'connected_gene': 'PIGB', 'score': 21.29}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'PIGBOS1', 'score': 10.69}, {'connected_gene': 'DNAAF4', 'score': 9.22}, {'connected_gene': 'CCPG1', 'score': 2.88}, {'connected_gene': 'PIR62136', 'score': 0.34}]
chr15	GH15I055496	55495400	55495600	0.2	[{'connected_gene': 'RSL24D1', 'score': 11.27}, {'connected_gene': 'RAB27A', 'score': 7.37}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.77}, {'connected_gene': 'DNAAF4', 'score': 0.39}, {'connected_gene': 'LOC100420711', 'score': 0.23}]
chr15	GH15I055495	55495063	55495212	0.2	[{'connected_gene': 'RSL24D1', 'score': 11.27}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.77}, {'connected_gene': 'DNAAF4', 'score': 0.39}, {'connected_gene': 'LOC100420711', 'score': 0.23}]
chr15	GH15I055494	55494801	55495001	0.2	[{'connected_gene': 'RSL24D1', 'score': 11.27}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.77}, {'connected_gene': 'DNAAF4', 'score': 0.39}, {'connected_gene': 'LOC100420711', 'score': 0.23}]
chr15	GH15I055514	55514543	55514692	0.2	[{'connected_gene': 'PYGO1', 'score': 10.69}, {'connected_gene': 'DNAAF4', 'score': 0.44}, {'connected_gene': 'GC15M057430', 'score': 0.39}]
chr15	GH15I055497	55497600	55499140	1.92	[{'connected_gene': 'DNAAF4', 'score': 556.74}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 13.48}, {'connected_gene': 'PYGO1', 'score': 11.65}, {'connected_gene': 'C15orf65', 'score': 10.38}, {'connected_gene': 'PIGB', 'score': 9.63}, {'connected_gene': 'LOC100420711', 'score': 0.22}]
chr15	GH15I055513	55513923	55514072	0.43	[{'connected_gene': 'DNAAF4', 'score': 0.44}, {'connected_gene': 'GC15M057430', 'score': 0.37}]
chr15	GH15I055401	55401729	55409389	2.1	[{'connected_gene': 'C15orf65', 'score': 560.67}, {'connected_gene': 'CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 23.81}, {'connected_gene': 'NEDD4', 'score': 11.87}, {'connected_gene': 'PYGO1', 'score': 11.58}, {'connected_gene': 'DNAAF4', 'score': 11.28}, {'connected_gene': 'PIGBOS1', 'score': 10.62}, {'connected_gene': 'PIGB', 'score': 7.14}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.16}]
chr15	GH15I055396	55396659	55397557	0.87	[{'connected_gene': 'GC15M057427', 'score': 550.77}, {'connected_gene': 'MIR628', 'score': 13.11}, {'connected_gene': 'C15orf65', 'score': 10.86}, {'connected_gene': 'PIGB', 'score': 7.05}, {'connected_gene': 'DNAAF4', 'score': 6.32}, {'connected_gene': 'CCPG1', 'score': 0.39}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.15}]
chr15	GH15I055439	55439783	55439912	0.57	[{'connected_gene': 'GC15P055441', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 10.01}, {'connected_gene': 'C15orf65', 'score': 0.29}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.22}, {'connected_gene': 'DNAAF4', 'score': 0.2}]