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
ENST00000388968	[[198351304, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363574], [198364505, 198364771]]	[[198351769, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363572]]
ENST00000345042	[[198351309, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363574], [198364883, 198364998]]	[[198351769, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363572]]
ENST00000491249	[[198352697, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355296]]	None
ENST00000482167	[[198358043, 198358216], [198358880, 198359198]]	None
ENST00000430176	[[198358871, 198358974], [198359386, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363574], [198364883, 198364932]]	[[198358871, 198358974], [198359386, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363572]]
ENST00000486181	[[198358873, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362231]]	None
ENST00000452200	[[198358917, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363574], [198364722, 198364945]]	[[198358917, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363572]]
ENST00000440114	[[198359363, 198359476], [198360017, 198360100], [198361863, 198362116], [198363445, 198363574], [198364505, 198364546]]	[[198362096, 198362116], [198363445, 198363572]]
ENST00000476746	[[198359774, 198360100], [198361863, 198362116], [198363398, 198363574], [198364505, 198364603]]	None
ENST00000461097	[[198361614, 198362116], [198363398, 198363574], [198364505, 198364541]]	None
ENST00000544407	[[198361634, 198362116], [198363398, 198363574], [198364722, 198364812]]	[[198361813, 198362116], [198363398, 198363572]]
ENST00000426480	[[198361891, 198362116], [198363398, 198363574], [198381333, 198381461]]	[[198361891, 198362116], [198363398, 198363574], [198381333, 198381457]]
ENST00000428204	[[198362008, 198362116], [198363398, 198363574], [198363982, 198364162], [198364505, 198364590]]	[[198362008, 198362116], [198363398, 198363572]]
ENST00000439605	[[198362040, 198362116], [198363398, 198363574], [198363890, 198364162], [198364505, 198364559]]	[[198362040, 198362116], [198363398, 198363572]]
ENST00000418022	[[198363397, 198363574], [198363865, 198364162], [198364505, 198364564]]	[[198363397, 198363572]]
NM_002156	[[198351307, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363574], [198364505, 198364640]]	[[198351769, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363572]]
NM_199440	[[198351307, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363574], [198364883, 198364998]]	[[198351769, 198351922], [198352581, 198352760], [198353040, 198353215], [198353725, 198353971], [198354920, 198355020], [198358047, 198358216], [198358880, 198358974], [198359380, 198359476], [198360017, 198360100], [198361863, 198362116], [198363398, 198363572]]

Promoter

Chrom	Start	End	Description
chr2	198364028	198364041	CAGE_peak_4_at_HSPD1_5end
chr2	198364552	198364576	CAGE_peak_1_at_HSPD1_5end
chr2	198364581	198364596	CAGE_peak_2_at_HSPD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	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	GH02I197513	197513994	197517648	2.09	[{'connected_gene': 'MOB4', 'score': 556.91}, {'connected_gene': 'HSPD1', 'score': 550.77}, {'connected_gene': 'PLCL1', 'score': 5.7}, {'connected_gene': 'HSPE1-MOB4', 'score': 0.37}]
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	GH02I197429	197429662	197430466	0.31	[{'connected_gene': 'ENSG00000202434', 'score': 11.66}, {'connected_gene': 'HSPE1', 'score': 11.0}, {'connected_gene': 'HSPD1', 'score': 10.97}, {'connected_gene': 'PLCL1', 'score': 5.23}, {'connected_gene': 'SF3B1', 'score': 0.44}, {'connected_gene': 'GC02P197419', 'score': 0.39}]
chr2	GH02I197426	197426294	197427968	0.49	[{'connected_gene': 'ENSG00000202434', 'score': 11.69}, {'connected_gene': 'HSPE1', 'score': 10.99}, {'connected_gene': 'HSPD1', 'score': 10.97}, {'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}]