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
ENST00000296443	[[48506444, 48506482], [48506885, 48507708], [48508028, 48509044]]	[[48508054, 48508999]]
ENST00000395677	[[48506444, 48506482], [48506885, 48509044]]	None
ENST00000433541	[[48507209, 48507337], [48507649, 48507708], [48508028, 48508040], [48508138, 48509044]]	[[48508471, 48508999]]
ENST00000422277	[[48507228, 48509041]]	[[48507889, 48508999]]
ENST00000436480	[[48507228, 48507708], [48508028, 48509041]]	[[48508054, 48508999]]
ENST00000444177	[[48507344, 48507568], [48508066, 48509042]]	[[48508084, 48508999]]
ENST00000456089	[[48507660, 48507708], [48508463, 48509044]]	[[48508471, 48508999]]
ENST00000492235	[[48507668, 48507708], [48508176, 48508832]]	None
NM_007248	[[48506918, 48507568], [48508066, 48509044]]	[[48508084, 48508999]]
NM_033629	[[48506918, 48507708], [48508028, 48509044]]	[[48508054, 48508999]]
NM_016381	[[48506918, 48509044]]	[[48507889, 48508999]]

Promoter

Chrom	Start	End	Description
chr3	48507212	48507241	CAGE_peak_2_at_TREX1_5end
chr3	48507621	48507689	CAGE_peak_1_at_TREX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I048551	48551579	48566961	2.74	[{'connected_gene': 'PFKFB4', 'score': 551.86}, {'connected_gene': 'UCN2', 'score': 550.77}, {'connected_gene': 'TMA7', 'score': 37.63}, {'connected_gene': 'NME6', 'score': 29.47}, {'connected_gene': 'QRICH1', 'score': 23.29}, {'connected_gene': 'ATRIP', 'score': 22.64}, {'connected_gene': 'USP19', 'score': 21.6}, {'connected_gene': 'ZNF589', 'score': 16.52}, {'connected_gene': 'WDR6', 'score': 16.25}, {'connected_gene': 'TMEM89', 'score': 14.89}, {'connected_gene': 'MRPS18AP1', 'score': 14.81}, {'connected_gene': 'RHOA-IT1', 'score': 13.56}, {'connected_gene': 'CCDC71', 'score': 12.26}, {'connected_gene': 'COL7A1', 'score': 12.09}, {'connected_gene': 'ENSG00000244380', 'score': 11.23}, {'connected_gene': 'CCDC51', 'score': 11.11}, {'connected_gene': 'QARS', 'score': 10.85}, {'connected_gene': 'FBXW12', 'score': 10.36}, {'connected_gene': 'CDC25A', 'score': 9.84}, {'connected_gene': 'RNU7-128P', 'score': 9.16}, {'connected_gene': 'NDUFB1P1', 'score': 9.16}, {'connected_gene': 'TREX1', 'score': 6.93}, {'connected_gene': 'AMT', 'score': 5.89}, {'connected_gene': 'SLC26A6', 'score': 4.86}, {'connected_gene': 'ENSG00000272434', 'score': 4.29}, {'connected_gene': 'DALRD3', 'score': 3.93}, {'connected_gene': 'CCDC36', 'score': 3.78}, {'connected_gene': 'ARIH2', 'score': 3.57}, {'connected_gene': 'MIR6823', 'score': 0.44}]
chr3	GH03I047871	47871011	47872936	0.77	[{'connected_gene': 'IP6K2', 'score': 11.26}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 10.01}, {'connected_gene': 'GC03P047875', 'score': 0.77}, {'connected_gene': 'GC03P047864', 'score': 0.44}, {'connected_gene': 'MAP4', 'score': 0.08}]
chr3	GH03I048693	48693532	48696157	1.67	[{'connected_gene': 'IP6K2', 'score': 568.62}, {'connected_gene': 'WDR6', 'score': 32.19}, {'connected_gene': 'COL7A1', 'score': 10.39}, {'connected_gene': 'UCN2', 'score': 10.35}, {'connected_gene': 'PFKFB4', 'score': 10.35}, {'connected_gene': 'PRKAR2A', 'score': 9.91}, {'connected_gene': 'PRKAR2A-AS1', 'score': 9.91}, {'connected_gene': 'QRICH1', 'score': 9.32}, {'connected_gene': 'QARS', 'score': 9.14}, {'connected_gene': 'NCKIPSD', 'score': 6.81}, {'connected_gene': 'NICN1', 'score': 5.53}, {'connected_gene': 'TREX1', 'score': 4.51}]
chr3	GH03I048366	48366450	48366824	0.53	[{'connected_gene': 'ZNF589', 'score': 15.16}, {'connected_gene': 'SPINK8', 'score': 11.25}, {'connected_gene': 'MIR2115', 'score': 11.18}, {'connected_gene': 'NME6', 'score': 11.03}, {'connected_gene': 'PLXNB1', 'score': 10.73}, {'connected_gene': 'ATRIP', 'score': 10.34}, {'connected_gene': 'ENSG00000244380', 'score': 10.17}, {'connected_gene': 'TREX1', 'score': 10.01}, {'connected_gene': 'UCN2', 'score': 9.87}, {'connected_gene': 'PFKFB4', 'score': 9.87}, {'connected_gene': 'COL7A1', 'score': 9.86}, {'connected_gene': 'CDC25A', 'score': 9.52}, {'connected_gene': 'RNU7-128P', 'score': 9.12}, {'connected_gene': 'NDUFB1P1', 'score': 9.12}, {'connected_gene': 'MRPS18AP1', 'score': 4.51}, {'connected_gene': 'FBXW12', 'score': 0.44}]
chr3	GH03I048239	48239538	48242309	2.06	[{'connected_gene': 'ZNF589', 'score': 641.71}, {'connected_gene': 'GC03M048234', 'score': 550.77}, {'connected_gene': 'QRICH1', 'score': 31.48}, {'connected_gene': 'NME6', 'score': 30.07}, {'connected_gene': 'CCDC71', 'score': 22.25}, {'connected_gene': 'ATRIP', 'score': 21.68}, {'connected_gene': 'PTPN23', 'score': 19.6}, {'connected_gene': 'USP19', 'score': 16.82}, {'connected_gene': 'MRPS18AP1', 'score': 15.12}, {'connected_gene': 'TMEM89', 'score': 14.73}, {'connected_gene': 'CDC25A', 'score': 11.3}, {'connected_gene': 'IP6K2', 'score': 11.28}, {'connected_gene': 'QARS', 'score': 10.84}, {'connected_gene': 'PLXNB1', 'score': 10.73}, {'connected_gene': 'TREX1', 'score': 10.5}, {'connected_gene': 'TMA7', 'score': 10.27}, {'connected_gene': 'CCDC51', 'score': 10.27}, {'connected_gene': 'ENSG00000244380', 'score': 10.21}, {'connected_gene': 'FBXW12', 'score': 10.13}, {'connected_gene': 'SPINK8', 'score': 9.71}, {'connected_gene': 'CAMP', 'score': 0.37}]
chr3	GH03I048477	48477473	48480371	0.97	[{'connected_gene': 'TMA7', 'score': 48.18}, {'connected_gene': 'SHISA5', 'score': 17.06}, {'connected_gene': 'ATRIP', 'score': 11.53}, {'connected_gene': 'ENSG00000244380', 'score': 11.53}, {'connected_gene': 'CCDC51', 'score': 11.3}, {'connected_gene': 'UCN2', 'score': 10.99}, {'connected_gene': 'PFKFB4', 'score': 10.99}, {'connected_gene': 'COL7A1', 'score': 10.94}, {'connected_gene': 'FBXW12', 'score': 9.94}, {'connected_gene': 'SLC26A6', 'score': 6.06}, {'connected_gene': 'TREX1', 'score': 5.24}, {'connected_gene': 'NCKIPSD', 'score': 4.92}, {'connected_gene': 'FCF1P2', 'score': 4.1}, {'connected_gene': 'GC03M048464', 'score': 0.39}, {'connected_gene': 'PIR48300', 'score': 0.31}]
chr3	GH03I048464	48464370	48475807	2.29	[{'connected_gene': 'SHISA5', 'score': 562.46}, {'connected_gene': 'TREX1', 'score': 556.28}, {'connected_gene': 'TMA7', 'score': 67.9}, {'connected_gene': 'ATRIP', 'score': 38.5}, {'connected_gene': 'NME6', 'score': 29.44}, {'connected_gene': 'QRICH1', 'score': 20.52}, {'connected_gene': 'USP19', 'score': 16.82}, {'connected_gene': 'MRPS18AP1', 'score': 14.83}, {'connected_gene': 'TMEM89', 'score': 14.78}, {'connected_gene': 'RHOA-IT1', 'score': 13.56}, {'connected_gene': 'ZNF589', 'score': 12.61}, {'connected_gene': 'CCDC71', 'score': 12.26}, {'connected_gene': 'ENSG00000244380', 'score': 11.68}, {'connected_gene': 'CCDC51', 'score': 11.56}, {'connected_gene': 'PLXNB1', 'score': 11.55}, {'connected_gene': 'ENSG00000223343', 'score': 11.42}, {'connected_gene': 'QARS', 'score': 10.85}, {'connected_gene': 'COL7A1', 'score': 10.67}, {'connected_gene': 'UCN2', 'score': 10.62}, {'connected_gene': 'PFKFB4', 'score': 10.62}, {'connected_gene': 'FBXW12', 'score': 10.55}, {'connected_gene': 'CDC25A', 'score': 9.93}, {'connected_gene': 'SPINK8', 'score': 9.4}, {'connected_gene': 'AMT', 'score': 5.58}, {'connected_gene': 'GC03M048464', 'score': 0.77}, {'connected_gene': 'ENSG00000282827', 'score': 0.34}, {'connected_gene': 'PIR48300', 'score': 0.29}]
chr3	GH03I047474	47474401	47477175	2.07	[{'connected_gene': 'SCAP', 'score': 557.14}, {'connected_gene': 'GC03P047477', 'score': 550.77}, {'connected_gene': 'LOC105377073', 'score': 550.77}, {'connected_gene': 'TREX1', 'score': 10.45}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'NBEAL2', 'score': 9.98}, {'connected_gene': 'MAP4', 'score': 4.37}, {'connected_gene': 'ENSG00000276925', 'score': 0.44}]
chr3	GH03I048612	48612956	48615154	1.11	[{'connected_gene': 'TREX1', 'score': 5.1}, {'connected_gene': 'DALRD3', 'score': 2.41}, {'connected_gene': 'ARIH2', 'score': 1.86}, {'connected_gene': 'UQCRC1', 'score': 0.77}, {'connected_gene': 'TMEM89', 'score': 0.44}]
chr3	GH03I048742	48741799	48742937	1.55	[{'connected_gene': 'WDR6', 'score': 51.2}, {'connected_gene': 'QRICH1', 'score': 33.19}, {'connected_gene': 'ATRIP', 'score': 28.64}, {'connected_gene': 'AMT', 'score': 28.61}, {'connected_gene': 'ZNF589', 'score': 20.42}, {'connected_gene': 'CCDC71', 'score': 18.56}, {'connected_gene': 'PRKAR2A', 'score': 12.64}, {'connected_gene': 'USP19', 'score': 12.4}, {'connected_gene': 'QARS', 'score': 11.83}, {'connected_gene': 'NME6', 'score': 11.83}, {'connected_gene': 'MRPS18AP1', 'score': 11.64}, {'connected_gene': 'ENSG00000235236', 'score': 11.52}, {'connected_gene': 'TMEM89', 'score': 11.16}, {'connected_gene': 'DHX30', 'score': 9.94}, {'connected_gene': 'TREX1', 'score': 7.38}, {'connected_gene': 'DALRD3', 'score': 3.07}, {'connected_gene': 'ARIH2', 'score': 2.75}, {'connected_gene': 'IP6K2', 'score': 0.77}, {'connected_gene': 'PIR40170', 'score': 0.44}]
chr3	GH03I049237	49237729	49240672	1.53	[{'connected_gene': 'WDR6', 'score': 44.54}, {'connected_gene': 'AMT', 'score': 40.62}, {'connected_gene': 'IP6K2', 'score': 11.28}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'USP4', 'score': 7.75}, {'connected_gene': 'APEH', 'score': 6.58}, {'connected_gene': 'DALRD3', 'score': 6.2}, {'connected_gene': 'ENSG00000235236', 'score': 4.08}, {'connected_gene': 'RHOA', 'score': 3.35}, {'connected_gene': 'ARIH2', 'score': 2.49}, {'connected_gene': 'AMIGO3', 'score': 1.23}, {'connected_gene': 'ENSG00000270538', 'score': 0.39}, {'connected_gene': 'PIR41977', 'score': 0.28}, {'connected_gene': 'CCDC36', 'score': 0.26}]
chr3	GH03I048424	48424574	48436680	2.48	[{'connected_gene': 'LOC105377077', 'score': 550.77}, {'connected_gene': 'PLXNB1', 'score': 550.77}, {'connected_gene': 'TMA7', 'score': 62.72}, {'connected_gene': 'SHISA5', 'score': 17.31}, {'connected_gene': 'FBXW12', 'score': 10.93}, {'connected_gene': 'NME6', 'score': 10.39}, {'connected_gene': 'SPINK8', 'score': 10.32}, {'connected_gene': 'CDC25A', 'score': 10.22}, {'connected_gene': 'RNU7-128P', 'score': 10.22}, {'connected_gene': 'NDUFB1P1', 'score': 10.22}, {'connected_gene': 'TREX1', 'score': 7.34}, {'connected_gene': 'LAMB2', 'score': 5.65}, {'connected_gene': 'CCDC51', 'score': 0.39}]
chr3	GH03I048451	48451455	48451604	0.63	[{'connected_gene': 'ENSG00000282827', 'score': 0.77}, {'connected_gene': 'ATRIP', 'score': 0.77}, {'connected_gene': 'TREX1', 'score': 0.39}]
chr3	GH03I048463	48463560	48464209	0.31	[{'connected_gene': 'GC03M048464', 'score': 550.77}, {'connected_gene': 'TREX1', 'score': 550.77}, {'connected_gene': 'TMA7', 'score': 44.91}, {'connected_gene': 'PLXNB1', 'score': 11.34}, {'connected_gene': 'SHISA5', 'score': 11.05}, {'connected_gene': 'FBXW12', 'score': 10.4}, {'connected_gene': 'SPINK8', 'score': 9.4}, {'connected_gene': 'CDC25A', 'score': 9.19}, {'connected_gene': 'ENSG00000282827', 'score': 0.37}, {'connected_gene': 'ATRIP', 'score': 0.37}]