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
ENST00000263960	[[198318146, 198318388], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198340032]]	[[198318284, 198318388], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]
ENST00000409398	[[198318216, 198318388], [198327262, 198327455], [198334793, 198334895], [198338480, 198338892]]	[[198318284, 198318388], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]
ENST00000488445	[[198318487, 198318970], [198324655, 198324721]]	None
ENST00000545340	[[198318487, 198318970], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198339132]]	[[198324680, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]
ENST00000409010	[[198318517, 198318773], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198339134]]	[[198318753, 198318773], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]
NM_001320818	[[198318146, 198318388], [198327262, 198327455], [198334793, 198334895], [198338480, 198340033]]	[[198318284, 198318388], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]
NM_025147	[[198318146, 198318388], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198340033]]	[[198318284, 198318388], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]
NM_001320819	[[198318487, 198318773], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198340033]]	[[198318753, 198318773], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]
NM_001320820	[[198318487, 198318970], [198324655, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198340033]]	[[198324680, 198324805], [198327262, 198327455], [198334793, 198334895], [198338480, 198338648]]

Promoter

Chrom	Start	End	Description
chr2	198318175	198318182	CAGE_peak_4_at_COQ10B_5end
chr2	198318199	198318210	CAGE_peak_2_at_COQ10B_5end
chr2	198318223	198318283	CAGE_peak_1_at_COQ10B_5end
chr2	198318719	198318736	CAGE_peak_3_at_COQ10B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I196963	196963195	196963573	0.33	[{'connected_gene': 'ANKRD44', 'score': 5.33}, {'connected_gene': 'COQ10B', 'score': 3.61}, {'connected_gene': 'SF3B1', 'score': 1.92}, {'connected_gene': 'GC02M196966', 'score': 0.77}, {'connected_gene': 'PGAP1', 'score': 0.28}]
chr2	GH02I197292	197292325	197298975	1.41	[{'connected_gene': 'ANKRD44', 'score': 32.8}, {'connected_gene': 'LOC101927596', 'score': 12.24}, {'connected_gene': 'COQ10B', 'score': 6.44}, {'connected_gene': 'SF3B1', 'score': 4.15}, {'connected_gene': 'MOB4', 'score': 2.32}, {'connected_gene': 'ANKRD44-IT1', 'score': 0.44}, {'connected_gene': 'GC02P197265', 'score': 0.29}]
chr2	GH02I197157	197157832	197161336	1.51	[{'connected_gene': 'ANKRD44', 'score': 19.06}, {'connected_gene': 'ANKRD44-IT1', 'score': 12.26}, {'connected_gene': 'LOC105373824', 'score': 12.26}, {'connected_gene': 'COQ10B', 'score': 4.41}, {'connected_gene': 'SF3B1', 'score': 2.25}, {'connected_gene': 'GC02P197128', 'score': 0.29}, {'connected_gene': 'LOC101927596', 'score': 0.28}]
chr2	GH02I197203	197203445	197219125	1.59	[{'connected_gene': 'ANKRD44', 'score': 27.59}, {'connected_gene': 'ANKRD44-IT1', 'score': 12.43}, {'connected_gene': 'LOC105373824', 'score': 12.42}, {'connected_gene': 'MOB4', 'score': 8.93}, {'connected_gene': 'COQ10B', 'score': 8.87}, {'connected_gene': 'SF3B1', 'score': 7.09}, {'connected_gene': 'MARS2', 'score': 1.36}, {'connected_gene': 'HSPD1', 'score': 1.27}, {'connected_gene': 'LOC105373826', 'score': 0.44}, {'connected_gene': 'LOC101927596', 'score': 0.39}]
chr2	GH02I197252	197252728	197260084	1.45	[{'connected_gene': 'ANKRD44', 'score': 18.18}, {'connected_gene': 'ANKRD44-IT1', 'score': 12.59}, {'connected_gene': 'LOC105373824', 'score': 12.58}, {'connected_gene': 'LOC101927596', 'score': 12.57}, {'connected_gene': 'COQ10B', 'score': 4.81}, {'connected_gene': 'SF3B1', 'score': 2.28}, {'connected_gene': 'ATP5MC2P3', 'score': 0.44}, {'connected_gene': 'GC02P197242', 'score': 0.39}]
chr2	GH02I197451	197451297	197455459	2.29	[{'connected_gene': 'COQ10B', 'score': 555.59}, {'connected_gene': 'HSPE1', 'score': 11.66}, {'connected_gene': 'HSPD1', 'score': 11.62}, {'connected_gene': 'ENSG00000202434', 'score': 10.53}, {'connected_gene': 'BOLL', 'score': 9.99}, {'connected_gene': 'ANKRD44', 'score': 9.93}, {'connected_gene': 'PLCL1', 'score': 8.17}, {'connected_gene': 'RNU6-1029P', 'score': 0.44}]
chr2	GH02I197627	197627320	197629030	1.18	[{'connected_gene': 'PLCL1', 'score': 10.97}, {'connected_gene': 'RFTN2', 'score': 9.78}, {'connected_gene': 'COQ10B', 'score': 1.75}, {'connected_gene': 'GC02P197600', 'score': 0.31}]
chr2	GH02I197463	197463661	197463709	0.24	[{'connected_gene': 'SF3B1', 'score': 12.14}, {'connected_gene': 'ENSG00000202434', 'score': 11.49}, {'connected_gene': 'PLCL1', 'score': 2.17}, {'connected_gene': 'GC02P197477', 'score': 0.39}, {'connected_gene': 'COQ10B', 'score': 0.39}]
chr2	GH02I197460	197460687	197461622	0.62	[{'connected_gene': 'SF3B1', 'score': 12.14}, {'connected_gene': 'HSPE1', 'score': 11.72}, {'connected_gene': 'HSPD1', 'score': 11.67}, {'connected_gene': 'ENSG00000202434', 'score': 11.49}, {'connected_gene': 'COQ10B', 'score': 0.44}, {'connected_gene': 'GC02P197477', 'score': 0.37}]
chr2	GH02I197428	197428651	197429584	0.43	[{'connected_gene': 'ENSG00000202434', 'score': 11.69}, {'connected_gene': 'HSPE1', 'score': 10.99}, {'connected_gene': 'HSPD1', 'score': 10.97}, {'connected_gene': 'ANKRD44', 'score': 9.64}, {'connected_gene': 'COQ10B', 'score': 5.09}, {'connected_gene': 'SF3B1', 'score': 0.44}, {'connected_gene': 'GC02P197419', 'score': 0.44}]
chr2	GH02I197495	197495737	197503281	2.34	[{'connected_gene': 'GC02P197502', 'score': 550.77}, {'connected_gene': 'HSPE1-MOB4', 'score': 550.77}, {'connected_gene': 'HSPE1', 'score': 550.77}, {'connected_gene': 'HSPD1', 'score': 550.37}, {'connected_gene': 'SF3B1', 'score': 40.0}, {'connected_gene': 'NPM1P46', 'score': 22.62}, {'connected_gene': 'GTF3C3', 'score': 21.58}, {'connected_gene': 'RNU6-1029P', 'score': 11.25}, {'connected_gene': 'ANKRD44', 'score': 10.47}, {'connected_gene': 'ENSG00000202434', 'score': 9.7}, {'connected_gene': 'PLCL1', 'score': 8.84}, {'connected_gene': 'COQ10B', 'score': 4.29}, {'connected_gene': 'GC02P197477', 'score': 0.34}]