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
ENST00000555656	[[20914569, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917060, 20919038]]	[[20915398, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916930]]
ENST00000206542	[[20914826, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917172], [20917329, 20917425], [20920132, 20920308], [20920487, 20920607], [20922727, 20923264]]	[[20915398, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917172], [20917329, 20917425], [20920132, 20920308], [20920487, 20920607], [20922727, 20922842]]
ENST00000556124	[[20915221, 20915438], [20915580, 20915679], [20915773, 20916330], [20916891, 20916970], [20917122, 20917716]]	None
ENST00000553292	[[20915223, 20915679], [20915773, 20915847]]	None
ENST00000554249	[[20915297, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917557]]	[[20915398, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917133]]
ENST00000555223	[[20915789, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917172], [20917329, 20917460], [20920132, 20920308], [20920487, 20920611]]	[[20915789, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917133]]
ENST00000555785	[[20915836, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917060, 20917172], [20917329, 20917432]]	[[20915836, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916930]]
ENST00000554915	[[20916182, 20916330], [20916891, 20917329]]	None
ENST00000553640	[[20917366, 20917425], [20920153, 20920308], [20920487, 20920607], [20922727, 20922971]]	[[20917366, 20917425], [20920153, 20920308], [20920487, 20920607], [20922727, 20922842]]
ENST00000554699	[[20917380, 20917425], [20919415, 20919611], [20920132, 20920308], [20920487, 20920607], [20922727, 20922952]]	None
ENST00000488532	[[20919469, 20919611], [20920132, 20920308], [20920487, 20920607], [20922727, 20922971]]	[[20919469, 20919611], [20920132, 20920308], [20920487, 20920607], [20922727, 20922842]]
ENST00000556439	[[20920117, 20920607], [20922727, 20923248]]	None
ENST00000556252	[[20920136, 20920308], [20920434, 20920607], [20922727, 20923212]]	None
NM_017807	[[20915206, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917172], [20917329, 20917425], [20920132, 20920308], [20920487, 20920607], [20922727, 20923267]]	[[20915398, 20915438], [20915580, 20915679], [20915773, 20915849], [20916062, 20916153], [20916264, 20916330], [20916891, 20916970], [20917122, 20917172], [20917329, 20917425], [20920132, 20920308], [20920487, 20920607], [20922727, 20922842]]

Promoter

Chrom	Start	End	Description
chr14	20922932	20922956	CAGE_peak_2_at_OSGEP_5end
chr14	20922960	20922999	CAGE_peak_1_at_OSGEP_5end
chr14	20923008	20923019	CAGE_peak_4_at_OSGEP_5end
chr14	20923195	20923270	CAGE_peak_3_at_OSGEP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I020305	20305000	20306571	2.03	[{'connected_gene': 'TTC5', 'score': 561.92}, {'connected_gene': 'ENSG00000258459', 'score': 550.77}, {'connected_gene': 'ENSG00000258768', 'score': 17.65}, {'connected_gene': 'METTL17', 'score': 14.69}, {'connected_gene': 'ENSG00000258515', 'score': 12.08}, {'connected_gene': 'OSGEP', 'score': 12.05}]
chr14	GH14I020489	20487482	20487631	0.31	[{'connected_gene': 'PIP4P1', 'score': 11.53}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 11.1}, {'connected_gene': 'ENSG00000258908', 'score': 0.39}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14	GH14I020487	20486062	20486211	0.31	[{'connected_gene': 'PIP4P1', 'score': 11.56}, {'connected_gene': 'RNASE11', 'score': 11.47}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 10.56}, {'connected_gene': 'TEP1', 'score': 10.56}, {'connected_gene': 'ENSG00000258908', 'score': 0.44}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14	GH14I020679	20679641	20689424	2.67	[{'connected_gene': 'RNASE4', 'score': 570.03}, {'connected_gene': 'ANG', 'score': 556.76}, {'connected_gene': 'TRP-TGG3-2', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-5', 'score': 550.77}, {'connected_gene': 'PIR55020', 'score': 550.77}, {'connected_gene': 'ENSG00000259171', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 44.55}, {'connected_gene': 'ENSG00000258515', 'score': 38.75}, {'connected_gene': 'SUPT16H', 'score': 36.21}, {'connected_gene': 'CHD8', 'score': 32.71}, {'connected_gene': 'PARP2', 'score': 31.86}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 20.78}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 16.13}, {'connected_gene': 'PNP', 'score': 15.64}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'METTL17', 'score': 15.06}, {'connected_gene': 'TEP1', 'score': 14.24}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'ENSG00000259001', 'score': 5.03}, {'connected_gene': 'ZNF219', 'score': 3.58}, {'connected_gene': 'NDRG2', 'score': 1.44}, {'connected_gene': 'ARHGEF40', 'score': 1.39}, {'connected_gene': 'GC14P020760', 'score': 0.77}, {'connected_gene': 'TRT-TGT5-1', 'score': 0.77}, {'connected_gene': 'PIR37991', 'score': 0.77}]
chr14	GH14I020394	20394762	20396049	0.2	[{'connected_gene': 'OSGEP', 'score': 4.94}, {'connected_gene': 'TEP1', 'score': 0.37}, {'connected_gene': 'ENSG00000254846', 'score': 0.25}]
chr14	GH14I020426	20426762	20429453	1.49	[{'connected_gene': 'OSGEP', 'score': 19.2}, {'connected_gene': 'PNP', 'score': 16.34}, {'connected_gene': 'PIP4P1', 'score': 14.57}, {'connected_gene': 'APEX1', 'score': 12.05}, {'connected_gene': 'RNASE11', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 7.2}, {'connected_gene': 'KLHL33', 'score': 5.76}, {'connected_gene': 'RNASE6', 'score': 1.85}, {'connected_gene': 'RNASE3', 'score': 1.39}, {'connected_gene': 'GC14P020415', 'score': 0.39}]
chr14	GH14I020453	20453599	20457486	2.12	[{'connected_gene': 'OSGEP', 'score': 609.68}, {'connected_gene': 'APEX1', 'score': 598.25}, {'connected_gene': 'SUPT16H', 'score': 100.91}, {'connected_gene': 'METTL17', 'score': 100.48}, {'connected_gene': 'ENSG00000258515', 'score': 70.52}, {'connected_gene': 'TEP1', 'score': 42.76}, {'connected_gene': 'TTC5', 'score': 20.43}, {'connected_gene': 'PIP4P1', 'score': 19.81}, {'connected_gene': 'ZNF219', 'score': 18.84}, {'connected_gene': 'PNP', 'score': 14.42}, {'connected_gene': 'ENSG00000258768', 'score': 9.8}, {'connected_gene': 'CCNB1IP1', 'score': 9.76}]
chr14	GH14I020440	20440602	20441655	0.51	[{'connected_gene': 'OSGEP', 'score': 19.16}, {'connected_gene': 'LOC100422510', 'score': 0.77}, {'connected_gene': 'ENSG00000258515', 'score': 0.39}]
chr14	GH14I020486	20486811	20487351	0.54	[{'connected_gene': 'PNP', 'score': 15.05}, {'connected_gene': 'PIP4P1', 'score': 11.53}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 10.24}, {'connected_gene': 'TEP1', 'score': 10.24}, {'connected_gene': 'ENSG00000258908', 'score': 0.44}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14	GH14I020424	20424187	20425785	0.2	[{'connected_gene': 'APEX1', 'score': 11.92}, {'connected_gene': 'OSGEP', 'score': 11.92}, {'connected_gene': 'PIP4P1', 'score': 11.9}, {'connected_gene': 'PNP', 'score': 10.97}, {'connected_gene': 'RNASE11', 'score': 10.58}, {'connected_gene': 'TEP1', 'score': 7.07}, {'connected_gene': 'KLHL33', 'score': 5.59}, {'connected_gene': 'GC14P020415', 'score': 0.44}]
chr14	GH14I020609	20608942	20610757	1.57	[{'connected_gene': 'RNASE11', 'score': 550.77}, {'connected_gene': 'ENSG00000259060', 'score': 550.77}, {'connected_gene': 'TRL-AAG2-3', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-5', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'SUPT16H', 'score': 31.81}, {'connected_gene': 'METTL3', 'score': 26.36}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'ENSG00000258515', 'score': 21.74}, {'connected_gene': 'CHD8', 'score': 20.56}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.55}, {'connected_gene': 'METTL17', 'score': 11.27}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'CCNB1IP1', 'score': 10.83}]
chr14	GH14I020662	20662801	20664600	1.25	[{'connected_gene': 'TRY-GTA5-4', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 41.16}, {'connected_gene': 'ENSG00000258515', 'score': 30.49}, {'connected_gene': 'SUPT16H', 'score': 27.05}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 19.83}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'METTL3', 'score': 14.14}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.52}, {'connected_gene': 'CHD8', 'score': 12.3}, {'connected_gene': 'OR6S1', 'score': 12.09}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'RNASE4', 'score': 6.58}, {'connected_gene': 'GC14M020668', 'score': 0.77}]
chr14	GH14I020629	20629942	20634171	1.25	[{'connected_gene': 'TRT-TGT4-1', 'score': 550.77}, {'connected_gene': 'GC14M020647', 'score': 550.77}, {'connected_gene': 'TRP-TGG1-1', 'score': 550.77}, {'connected_gene': 'GC14P020634', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 35.73}, {'connected_gene': 'PARP2', 'score': 21.47}, {'connected_gene': 'SUPT16H', 'score': 18.68}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 17.44}, {'connected_gene': 'METTL3', 'score': 14.14}, {'connected_gene': 'CHD8', 'score': 12.3}, {'connected_gene': 'PIP4P1', 'score': 11.66}]
chr14	GH14I020657	20657201	20658253	1.2	[{'connected_gene': 'TRY-GTA4-1', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 77.67}, {'connected_gene': 'SUPT16H', 'score': 63.34}, {'connected_gene': 'METTL17', 'score': 47.65}, {'connected_gene': 'ENSG00000258515', 'score': 44.33}, {'connected_gene': 'PARP2', 'score': 35.88}, {'connected_gene': 'TTC5', 'score': 33.01}, {'connected_gene': 'CHD8', 'score': 29.8}, {'connected_gene': 'RAB2B', 'score': 28.62}, {'connected_gene': 'ENSG00000258768', 'score': 28.21}, {'connected_gene': 'OSGEP', 'score': 22.97}, {'connected_gene': 'TEP1', 'score': 22.29}, {'connected_gene': 'PIP4P1', 'score': 19.79}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'ANG', 'score': 11.61}, {'connected_gene': 'CCNB1IP1', 'score': 10.82}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'APEX1', 'score': 9.77}, {'connected_gene': 'TRY-GTA7-1', 'score': 0.77}]
chr14	GH14I020612	20612050	20615363	1.3	[{'connected_gene': 'TRP-AGG2-6', 'score': 550.77}, {'connected_gene': 'TRT-TGT3-1', 'score': 550.77}, {'connected_gene': 'GC14M020645', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 41.93}, {'connected_gene': 'METTL3', 'score': 38.68}, {'connected_gene': 'SUPT16H', 'score': 31.99}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'ENSG00000258768', 'score': 27.76}, {'connected_gene': 'CHD8', 'score': 25.02}, {'connected_gene': 'OSGEP', 'score': 24.4}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'METTL17', 'score': 16.21}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'APEX1', 'score': 9.73}]
chr14	GH14I020665	20665542	20665691	0.8	[{'connected_gene': 'ENSG00000258768', 'score': 12.95}, {'connected_gene': 'RAB2B', 'score': 12.54}, {'connected_gene': 'ENSG00000258515', 'score': 12.05}, {'connected_gene': 'OSGEP', 'score': 12.02}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'SUPT16H', 'score': 10.72}, {'connected_gene': 'TRY-GTA5-4', 'score': 0.77}, {'connected_gene': 'GC14M020668', 'score': 0.77}]
chr14	GH14I020493	20493557	20496183	0.93	[{'connected_gene': 'ENSG00000258515', 'score': 24.04}, {'connected_gene': 'OSGEP', 'score': 17.62}, {'connected_gene': 'CHD8', 'score': 13.59}, {'connected_gene': 'TTC5', 'score': 13.17}, {'connected_gene': 'SUPT16H', 'score': 10.56}, {'connected_gene': 'RNA5SP382', 'score': 10.45}, {'connected_gene': 'TEP1', 'score': 10.44}, {'connected_gene': 'RNASE10', 'score': 0.39}, {'connected_gene': 'ENSG00000258908', 'score': 0.37}]
chr14	GH14I020475	20475936	20479318	1.24	[{'connected_gene': 'GC14P020476', 'score': 550.77}, {'connected_gene': 'GC14P020477', 'score': 550.77}, {'connected_gene': 'ENSG00000258908', 'score': 550.77}, {'connected_gene': 'RNASE10', 'score': 12.08}, {'connected_gene': 'APEX1', 'score': 11.61}, {'connected_gene': 'OSGEP', 'score': 11.61}, {'connected_gene': 'RNA5SP382', 'score': 11.3}, {'connected_gene': 'TEP1', 'score': 11.3}, {'connected_gene': 'RNASE11', 'score': 11.05}, {'connected_gene': 'PNP', 'score': 10.8}]
chr14	GH14I020827	20827612	20828438	0.67	[{'connected_gene': 'ENSG00000258515', 'score': 33.37}, {'connected_gene': 'SUPT16H', 'score': 29.6}, {'connected_gene': 'METTL3', 'score': 27.62}, {'connected_gene': 'METTL17', 'score': 21.06}, {'connected_gene': 'RAB2B', 'score': 20.62}, {'connected_gene': 'ENSG00000258768', 'score': 12.93}, {'connected_gene': 'RNASE1', 'score': 12.01}, {'connected_gene': 'OSGEP', 'score': 11.99}, {'connected_gene': 'TTC5', 'score': 11.17}, {'connected_gene': 'EDDM3A', 'score': 10.98}, {'connected_gene': 'EDDM3B', 'score': 10.87}, {'connected_gene': 'ENSG00000178107', 'score': 10.35}, {'connected_gene': 'GC14P020814', 'score': 0.39}, {'connected_gene': 'ENSG00000259130', 'score': 0.25}]
chr14	GH14I020622	20622801	20626696	1.24	[{'connected_gene': 'GC14P020627', 'score': 550.77}, {'connected_gene': 'TRL-TAG2-1', 'score': 550.77}, {'connected_gene': 'PIR59363', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 88.47}, {'connected_gene': 'SUPT16H', 'score': 70.11}, {'connected_gene': 'METTL17', 'score': 61.1}, {'connected_gene': 'ENSG00000258515', 'score': 58.38}, {'connected_gene': 'CHD8', 'score': 55.58}, {'connected_gene': 'PARP2', 'score': 44.51}, {'connected_gene': 'TEP1', 'score': 44.16}, {'connected_gene': 'ENSG00000258768', 'score': 30.24}, {'connected_gene': 'OSGEP', 'score': 24.71}, {'connected_gene': 'APEX1', 'score': 21.77}, {'connected_gene': 'PIP4P1', 'score': 19.85}, {'connected_gene': 'TOX4', 'score': 13.64}, {'connected_gene': 'SALL2', 'score': 12.58}, {'connected_gene': 'ANG', 'score': 12.21}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'HNRNPC', 'score': 10.97}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'RPS26P9', 'score': 0.44}]