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
ENST00000409975	[[99225041, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234978]]	[[99226171, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234767]]
ENST00000357765	[[99225041, 99225189], [99226218, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234978]]	[[99226222, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234767]]
ENST00000409347	[[99225306, 99225474], [99226105, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234978]]	[[99226171, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234767]]
ENST00000393493	[[99232668, 99232809], [99232894, 99232996], [99234608, 99234978]]	[[99232668, 99232809], [99232894, 99232996], [99234608, 99234751]]
ENST00000423713	[[99232668, 99232809], [99234630, 99234978]]	[[99232668, 99232809], [99234630, 99234767]]
ENST00000466492	[[99232859, 99232996], [99234630, 99234975]]	None
NM_014044	[[99225010, 99225189], [99226218, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234978]]	[[99226222, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234767]]
NM_001330353	[[99225010, 99225189], [99226218, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234608, 99234978]]	[[99226222, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234608, 99234751]]
NM_001330354	[[99225010, 99225189], [99226105, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234978]]	[[99226171, 99226502], [99227237, 99227358], [99232669, 99232809], [99232894, 99232996], [99234630, 99234767]]

Promoter

Chrom	Start	End	Description
chr2	99225018	99225117	CAGE_peak_1_at_UNC50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I097712	97712403	97720047	2.07	[{'connected_gene': 'ZAP70', 'score': 588.02}, {'connected_gene': 'ANKRD36B', 'score': 24.23}, {'connected_gene': 'LMAN2L', 'score': 16.66}, {'connected_gene': 'UNC50', 'score': 15.92}, {'connected_gene': 'ACTR1B', 'score': 14.15}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'CNNM3', 'score': 11.55}, {'connected_gene': 'SEMA4C', 'score': 10.54}, {'connected_gene': 'TMEM131', 'score': 9.76}, {'connected_gene': 'FAHD2B', 'score': 7.66}, {'connected_gene': 'C2orf92', 'score': 6.92}, {'connected_gene': 'COX5B', 'score': 4.93}, {'connected_gene': 'ENSG00000235833', 'score': 4.09}, {'connected_gene': 'HMGN1P36', 'score': 0.14}]
chr2	GH02I097660	97660310	97665277	2.28	[{'connected_gene': 'C2orf92', 'score': 555.77}, {'connected_gene': 'ACTR1B', 'score': 550.77}, {'connected_gene': 'GC02M097664', 'score': 550.77}, {'connected_gene': 'ANKRD36B', 'score': 33.17}, {'connected_gene': 'ZAP70', 'score': 23.05}, {'connected_gene': 'TMEM131', 'score': 10.75}, {'connected_gene': 'UNC50', 'score': 9.75}, {'connected_gene': 'LOC100506123', 'score': 7.87}, {'connected_gene': 'RNU4-8P', 'score': 0.77}, {'connected_gene': 'PIR38581', 'score': 0.37}]
chr2	GH02I098908	98908312	98910378	1.53	[{'connected_gene': 'LOC550644', 'score': 55.15}, {'connected_gene': 'REV1', 'score': 45.25}, {'connected_gene': 'ENSG00000273306', 'score': 42.58}, {'connected_gene': 'UNC50', 'score': 37.13}, {'connected_gene': 'MITD1', 'score': 32.47}, {'connected_gene': 'LIPT1', 'score': 31.67}, {'connected_gene': 'TMEM131', 'score': 29.71}, {'connected_gene': 'KIAA1211L', 'score': 13.34}, {'connected_gene': 'RNU7-46P', 'score': 0.2}]
chr2	GH02I098559	98559117	98561557	0.81	[{'connected_gene': 'COA5', 'score': 11.65}, {'connected_gene': 'UNC50', 'score': 11.65}, {'connected_gene': 'PIR35284', 'score': 0.25}, {'connected_gene': 'INPP4A', 'score': 0.13}]
chr2	GH02I098583	98583661	98584867	0.87	[{'connected_gene': 'COA5', 'score': 12.04}, {'connected_gene': 'UNC50', 'score': 12.04}, {'connected_gene': 'KIAA1211L', 'score': 9.23}, {'connected_gene': 'PIR35284', 'score': 0.19}, {'connected_gene': 'INPP4A', 'score': 0.12}]
chr2	GH02I098556	98556099	98557387	0.9	[{'connected_gene': 'INPP4A', 'score': 19.92}, {'connected_gene': 'COA5', 'score': 11.64}, {'connected_gene': 'UNC50', 'score': 11.64}, {'connected_gene': 'ENSG00000227987', 'score': 9.79}, {'connected_gene': 'CNGA3', 'score': 9.79}, {'connected_gene': 'PIR35284', 'score': 0.26}]
chr2	GH02I098617	98617227	98618040	0.2	[{'connected_gene': 'INPP4A', 'score': 7.56}, {'connected_gene': 'PIR38295', 'score': 0.77}, {'connected_gene': 'PIR57027', 'score': 0.44}, {'connected_gene': 'UNC50', 'score': 0.44}]
chr2	GH02I098501	98501439	98509999	1.66	[{'connected_gene': 'INPP4A', 'score': 26.31}, {'connected_gene': 'MITD1', 'score': 18.01}, {'connected_gene': 'TMEM131', 'score': 14.76}, {'connected_gene': 'ENSG00000273306', 'score': 13.82}, {'connected_gene': 'REV1', 'score': 11.95}, {'connected_gene': 'UNC50', 'score': 10.97}, {'connected_gene': 'LOC550644', 'score': 9.99}, {'connected_gene': 'ENSG00000227987', 'score': 9.94}, {'connected_gene': 'CNGA3', 'score': 9.94}, {'connected_gene': 'MGAT4A', 'score': 9.49}, {'connected_gene': 'LYG1', 'score': 4.19}, {'connected_gene': 'PIR35284', 'score': 0.44}, {'connected_gene': 'PIR47012', 'score': 0.37}]
chr2	GH02I098462	98462549	98475476	1.64	[{'connected_gene': 'INPP4A', 'score': 29.19}, {'connected_gene': 'LOC101927070', 'score': 5.14}, {'connected_gene': 'TMEM131', 'score': 3.36}, {'connected_gene': 'UNC50', 'score': 1.34}, {'connected_gene': 'MGAT4A', 'score': 1.31}, {'connected_gene': 'PIR47012', 'score': 0.34}]
chr2	GH02I098757	98757428	98761999	1.44	[{'connected_gene': 'KIAA1211L', 'score': 6.34}, {'connected_gene': 'LYG1', 'score': 6.32}, {'connected_gene': 'C2orf15', 'score': 3.74}, {'connected_gene': 'MGAT4A', 'score': 2.09}, {'connected_gene': 'INPP4A', 'score': 1.86}, {'connected_gene': 'UNC50', 'score': 1.46}, {'connected_gene': 'LOC101927070', 'score': 0.39}]
chr2	GH02I098606	98606714	98610931	2.27	[{'connected_gene': 'UNC50', 'score': 557.74}, {'connected_gene': 'COA5', 'score': 550.77}, {'connected_gene': 'INPP4A', 'score': 18.28}, {'connected_gene': 'RNU7-46P', 'score': 10.81}, {'connected_gene': 'LIPT1', 'score': 8.98}, {'connected_gene': 'TSGA10', 'score': 8.98}, {'connected_gene': 'MRPL30', 'score': 8.98}, {'connected_gene': 'PIR57027', 'score': 0.77}]
chr2	GH02I098569	98569298	98569507	0.62	[{'connected_gene': 'UNC50', 'score': 6.37}, {'connected_gene': 'COA5', 'score': 0.28}, {'connected_gene': 'PIR35284', 'score': 0.22}, {'connected_gene': 'INPP4A', 'score': 0.13}]
chr2	GH02I097992	97992779	97997120	2.25	[{'connected_gene': 'TMEM131', 'score': 563.68}, {'connected_gene': 'ANKRD36B', 'score': 23.57}, {'connected_gene': 'UNC50', 'score': 15.92}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'ZAP70', 'score': 11.76}, {'connected_gene': 'ACTR1B', 'score': 7.29}, {'connected_gene': 'C2orf92', 'score': 4.79}, {'connected_gene': 'RNU7-96P', 'score': 0.18}]
chr2	GH02I097644	97644775	97647542	2.22	[{'connected_gene': 'COX5B', 'score': 550.77}, {'connected_gene': 'PIR38581', 'score': 550.77}, {'connected_gene': 'ACTR1B', 'score': 31.82}, {'connected_gene': 'TMEM131', 'score': 20.32}, {'connected_gene': 'UNC50', 'score': 9.75}, {'connected_gene': 'LOC100506123', 'score': 7.8}, {'connected_gene': 'ANKRD36', 'score': 5.49}, {'connected_gene': 'C2orf92', 'score': 5.4}]
chr2	GH02I099179	99179845	99183227	2.12	[{'connected_gene': 'MITD1', 'score': 585.99}, {'connected_gene': 'MRPL30', 'score': 550.77}, {'connected_gene': 'TSGA10', 'score': 71.22}, {'connected_gene': 'UNC50', 'score': 34.98}, {'connected_gene': 'REV1', 'score': 24.87}, {'connected_gene': 'LIPT1', 'score': 23.18}, {'connected_gene': 'ENSG00000273306', 'score': 17.53}, {'connected_gene': 'LOC550644', 'score': 13.74}, {'connected_gene': 'ENSG00000241962', 'score': 6.27}, {'connected_gene': 'LYG1', 'score': 5.61}, {'connected_gene': 'ENSG00000273155', 'score': 0.31}, {'connected_gene': 'LYG2', 'score': 0.18}]
chr2	GH02I098748	98748777	98749649	1.2	[{'connected_gene': 'LYG1', 'score': 5.49}, {'connected_gene': 'KIAA1211L', 'score': 4.93}, {'connected_gene': 'MGAT4A', 'score': 3.59}, {'connected_gene': 'UNC50', 'score': 1.98}, {'connected_gene': 'INPP4A', 'score': 1.31}, {'connected_gene': 'LOC101927070', 'score': 0.34}]
chr2	GH02I098767	98767627	98773722	1.45	[{'connected_gene': 'MGAT4A', 'score': 19.86}, {'connected_gene': 'ENSG00000273306', 'score': 15.16}, {'connected_gene': 'REV1', 'score': 15.09}, {'connected_gene': 'MITD1', 'score': 12.98}, {'connected_gene': 'TMEM131', 'score': 12.41}, {'connected_gene': 'LOC550644', 'score': 11.31}, {'connected_gene': 'UNC50', 'score': 9.81}, {'connected_gene': 'TSGA10', 'score': 9.05}, {'connected_gene': 'LYG1', 'score': 7.23}, {'connected_gene': 'INPP4A', 'score': 6.68}, {'connected_gene': 'C2orf15', 'score': 4.36}, {'connected_gene': 'LIPT1', 'score': 2.87}, {'connected_gene': 'LOC101927070', 'score': 0.77}]
chr2	GH02I099334	99334998	99338930	2.11	[{'connected_gene': 'TXNDC9', 'score': 550.77}, {'connected_gene': 'EIF5B', 'score': 550.77}, {'connected_gene': 'LOC550644', 'score': 23.76}, {'connected_gene': 'TSGA10', 'score': 15.84}, {'connected_gene': 'REV1', 'score': 14.81}, {'connected_gene': 'ENSG00000273306', 'score': 12.29}, {'connected_gene': 'UNC50', 'score': 11.68}, {'connected_gene': 'MITD1', 'score': 10.31}, {'connected_gene': 'LYG1', 'score': 9.45}, {'connected_gene': 'PIR33754', 'score': 0.37}]
chr2	GH02I098632	98632969	98636023	0.66	[{'connected_gene': 'RNU7-46P', 'score': 11.26}, {'connected_gene': 'MGAT4A', 'score': 10.64}, {'connected_gene': 'RNU4-84P', 'score': 10.39}, {'connected_gene': 'UNC50', 'score': 5.14}, {'connected_gene': 'INPP4A', 'score': 4.98}, {'connected_gene': 'PIR38295', 'score': 0.39}, {'connected_gene': 'YWHAQP5', 'score': 0.22}]