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
ENST00000261623	[[88709690, 88709979], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717560]]	[[88709760, 88709979], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717421]]
ENST00000565588	[[88709921, 88709989], [88712523, 88712605], [88713162, 88713233]]	[[88709921, 88709989], [88712523, 88712605], [88713162, 88713233]]
ENST00000566534	[[88709921, 88709979], [88712523, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717443]]	None
ENST00000566229	[[88709947, 88709979], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88716660, 88716722]]	[[88709947, 88709979], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88716660, 88716707]]
ENST00000567174	[[88711149, 88711837], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717449]]	[[88711573, 88711837], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717421]]
ENST00000569359	[[88711494, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717438]]	[[88712505, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717421]]
ENST00000563526	[[88712372, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717396]]	None
ENST00000568278	[[88712539, 88712605], [88712927, 88713011], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717423]]	[[88712539, 88712605], [88712927, 88713011], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717421]]
ENST00000562209	[[88712548, 88712605], [88713162, 88713583], [88714452, 88714522], [88717363, 88717439]]	None
ENST00000561972	[[88714100, 88714347], [88714404, 88714522], [88717363, 88717462]]	None
NM_000101	[[88709696, 88709979], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717492]]	[[88709760, 88709979], [88712523, 88712605], [88713162, 88713246], [88713508, 88713583], [88714452, 88714522], [88717363, 88717421]]

Promoter

Chrom	Start	End	Description
chr16	88716984	88716990	CAGE_peak_4_at_CYBA_5end
chr16	88717442	88717469	CAGE_peak_1_at_CYBA_5end
chr16	88717482	88717489	CAGE_peak_2_at_CYBA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I088779	88779426	88786087	2.56	[{'connected_gene': 'PIEZO1', 'score': 556.55}, {'connected_gene': 'APRT', 'score': 22.12}, {'connected_gene': 'ANKRD11', 'score': 21.7}, {'connected_gene': 'SNORD68', 'score': 12.56}, {'connected_gene': 'CDT1', 'score': 12.18}, {'connected_gene': 'GALNS', 'score': 11.31}, {'connected_gene': 'TRAPPC2L', 'score': 11.31}, {'connected_gene': 'ENSG00000259877', 'score': 11.3}, {'connected_gene': 'RPL13', 'score': 11.05}, {'connected_gene': 'CTU2', 'score': 10.89}, {'connected_gene': 'ZC3H18', 'score': 10.53}, {'connected_gene': 'ACSF3', 'score': 10.37}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'BANP', 'score': 9.84}, {'connected_gene': 'LINC00304', 'score': 9.73}, {'connected_gene': 'RNF166', 'score': 8.36}, {'connected_gene': 'ENSG00000260121', 'score': 6.84}, {'connected_gene': 'CYBA', 'score': 6.83}, {'connected_gene': 'CDK10', 'score': 6.78}, {'connected_gene': 'LOC100129697', 'score': 4.93}, {'connected_gene': 'SNAI3', 'score': 1.51}, {'connected_gene': 'LOC339059', 'score': 0.28}]
chr16	GH16I088967	88967272	88979704	2.19	[{'connected_gene': 'CBFA2T3', 'score': 559.86}, {'connected_gene': 'PABPN1L', 'score': 14.31}, {'connected_gene': 'LOC100129697', 'score': 12.64}, {'connected_gene': 'ENSG00000261226', 'score': 6.78}, {'connected_gene': 'ACSF3', 'score': 6.41}, {'connected_gene': 'CDK10', 'score': 5.72}, {'connected_gene': 'SNAI3-AS1', 'score': 4.99}, {'connected_gene': 'CDH15', 'score': 4.76}, {'connected_gene': 'GALNS', 'score': 4.6}, {'connected_gene': 'CYBA', 'score': 1.31}, {'connected_gene': 'PIR58575', 'score': 0.44}]
chr16	GH16I088407	88407730	88408159	0.67	[{'connected_gene': 'BANP', 'score': 3.96}, {'connected_gene': 'CYBA', 'score': 2.33}, {'connected_gene': 'ZFPM1', 'score': 0.26}, {'connected_gene': 'GC16P088248', 'score': 0.1}, {'connected_gene': 'ZNF469', 'score': 0.09}]
chr16	GH16I088261	88261766	88266455	1.62	[{'connected_gene': 'BANP', 'score': 10.35}, {'connected_gene': 'LOC105371401', 'score': 4.98}, {'connected_gene': 'CYBA', 'score': 2.96}, {'connected_gene': 'ZC3H18', 'score': 2.3}, {'connected_gene': 'RNF166', 'score': 2.12}, {'connected_gene': 'GC16P088248', 'score': 0.37}, {'connected_gene': 'ENSG00000261273', 'score': 0.31}, {'connected_gene': 'ZNF469', 'score': 0.29}, {'connected_gene': 'ZFPM1', 'score': 0.09}]
chr16	GH16I088638	88638125	88641217	1.63	[{'connected_gene': 'IL17C', 'score': 550.77}, {'connected_gene': 'SNORD68', 'score': 13.98}, {'connected_gene': 'ENSG00000260121', 'score': 13.12}, {'connected_gene': 'PIEZO1', 'score': 11.18}, {'connected_gene': 'RPL13', 'score': 10.53}, {'connected_gene': 'SNAI3-AS1', 'score': 5.23}, {'connected_gene': 'CYBA', 'score': 0.39}]
chr16	GH16I088854	88854323	88858502	2.25	[{'connected_gene': 'GALNS', 'score': 560.34}, {'connected_gene': 'TRAPPC2L', 'score': 550.77}, {'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'CYBA', 'score': 7.23}, {'connected_gene': 'RNF166', 'score': 5.99}, {'connected_gene': 'ZC3H18', 'score': 2.11}, {'connected_gene': 'SNAI3', 'score': 1.76}, {'connected_gene': 'CBFA2T3', 'score': 1.64}]
chr16	GH16I089112	89112781	89124096	1.68	[{'connected_gene': 'ACSF3', 'score': 38.68}, {'connected_gene': 'TRAPPC2L', 'score': 12.15}, {'connected_gene': 'GALNS', 'score': 12.15}, {'connected_gene': 'RNF166', 'score': 8.81}, {'connected_gene': 'TUBB3', 'score': 7.43}, {'connected_gene': 'CYBA', 'score': 6.44}, {'connected_gene': 'SNAI3', 'score': 5.89}, {'connected_gene': 'ENSG00000259877', 'score': 5.83}, {'connected_gene': 'ENSG00000260279', 'score': 5.23}, {'connected_gene': 'SLC22A31', 'score': 5.21}, {'connected_gene': 'RPL13', 'score': 2.87}, {'connected_gene': 'CBFA2T3', 'score': 2.72}, {'connected_gene': 'ENSG00000261546', 'score': 0.77}, {'connected_gene': 'GC16P089147', 'score': 0.31}]
chr16	GH16I088661	88661800	88664411	2.05	[{'connected_gene': 'SNAI3-AS1', 'score': 566.25}, {'connected_gene': 'MVD', 'score': 555.42}, {'connected_gene': 'ZNF778', 'score': 26.15}, {'connected_gene': 'ZC3H18', 'score': 22.87}, {'connected_gene': 'ANKRD11', 'score': 12.99}, {'connected_gene': 'ENSG00000259877', 'score': 11.29}, {'connected_gene': 'CTU2', 'score': 10.97}, {'connected_gene': 'KLHDC4', 'score': 10.05}, {'connected_gene': 'BANP', 'score': 9.81}, {'connected_gene': 'LINC00304', 'score': 9.72}, {'connected_gene': 'DPEP1', 'score': 6.07}, {'connected_gene': 'CYBA', 'score': 0.39}]
chr16	GH16I088660	88660019	88660408	0.67	[{'connected_gene': 'SNAI3-AS1', 'score': 11.65}, {'connected_gene': 'MVD', 'score': 0.77}, {'connected_gene': 'CYBA', 'score': 0.44}]
chr16	GH16I088655	88655618	88657144	0.46	[{'connected_gene': 'SNAI3-AS1', 'score': 12.44}, {'connected_gene': 'GALNS', 'score': 5.09}, {'connected_gene': 'MVD', 'score': 0.44}, {'connected_gene': 'CYBA', 'score': 0.44}]
chr16	GH16I088658	88658841	88659767	0.38	[{'connected_gene': 'SNAI3-AS1', 'score': 11.53}, {'connected_gene': 'DPEP1', 'score': 4.49}, {'connected_gene': 'MVD', 'score': 0.77}, {'connected_gene': 'CYBA', 'score': 0.44}]
chr16	GH16I088654	88654611	88655478	0.38	[{'connected_gene': 'SNAI3-AS1', 'score': 9.74}, {'connected_gene': 'CYBA', 'score': 0.77}, {'connected_gene': 'MVD', 'score': 0.44}]
chr16	GH16I088672	88672680	88675359	0.59	[{'connected_gene': 'SNAI3-AS1', 'score': 15.88}, {'connected_gene': 'CYBA', 'score': 12.45}, {'connected_gene': 'IL17C', 'score': 11.82}, {'connected_gene': 'CTU2', 'score': 9.08}, {'connected_gene': 'ENSG00000260121', 'score': 4.85}, {'connected_gene': 'SNAI3', 'score': 0.39}]
chr16	GH16I088633	88633153	88638092	1.62	[{'connected_gene': 'CYBA', 'score': 18.86}, {'connected_gene': 'SNORD68', 'score': 13.39}, {'connected_gene': 'RPL13', 'score': 11.61}, {'connected_gene': 'RNF166', 'score': 9.62}, {'connected_gene': 'ZC3H18', 'score': 5.27}, {'connected_gene': 'SNAI3', 'score': 3.58}, {'connected_gene': 'CBFA2T3', 'score': 2.19}, {'connected_gene': 'ZFPM1', 'score': 2.18}, {'connected_gene': 'ACSF3', 'score': 1.43}, {'connected_gene': 'IL17C', 'score': 0.77}]
chr16	GH16I088621	88621568	88622793	0.31	[{'connected_gene': 'CYBA', 'score': 20.3}, {'connected_gene': 'MVD', 'score': 12.16}, {'connected_gene': 'ZC3H18', 'score': 11.76}, {'connected_gene': 'SNAI3', 'score': 11.61}, {'connected_gene': 'IL17C', 'score': 0.37}]
chr16	GH16I088624	88624693	88625731	0.52	[{'connected_gene': 'CYBA', 'score': 27.03}, {'connected_gene': 'MVD', 'score': 12.18}, {'connected_gene': 'ZC3H18', 'score': 11.84}, {'connected_gene': 'SNAI3', 'score': 11.61}, {'connected_gene': 'IL17C', 'score': 0.39}]
chr16	GH16I088615	88615744	88621240	1.41	[{'connected_gene': 'CYBA', 'score': 28.24}, {'connected_gene': 'IL17C', 'score': 18.63}, {'connected_gene': 'ZC3H18', 'score': 14.68}, {'connected_gene': 'SNAI3', 'score': 13.58}, {'connected_gene': 'MVD', 'score': 12.16}, {'connected_gene': 'RNF166', 'score': 10.38}, {'connected_gene': 'ZFPM1', 'score': 3.36}]
chr16	GH16I088630	88630662	88631522	0.43	[{'connected_gene': 'CYBA', 'score': 5.2}, {'connected_gene': 'IL17C', 'score': 0.44}, {'connected_gene': 'ZC3H18', 'score': 0.21}]
chr16	GH16I088611	88611156	88611810	0.49	[{'connected_gene': 'CYBA', 'score': 6.49}, {'connected_gene': 'IL17C', 'score': 5.26}, {'connected_gene': 'ZC3H18', 'score': 0.26}]
chr16	GH16I088631	88631960	88632924	0.49	[{'connected_gene': 'CYBA', 'score': 15.29}, {'connected_gene': 'IL17C', 'score': 0.44}, {'connected_gene': 'ZC3H18', 'score': 0.21}]
chr16	GH16I088648	88648777	88649082	0.69	[{'connected_gene': 'CYBA', 'score': 0.77}, {'connected_gene': 'IL17C', 'score': 0.39}]
chr16	GH16I088645	88645268	88646114	0.2	[{'connected_gene': 'CYBA', 'score': 0.44}, {'connected_gene': 'IL17C', 'score': 0.44}]
chr16	GH16I088649	88649250	88653944	2.26	[{'connected_gene': 'CYBA', 'score': 560.7}, {'connected_gene': 'SNAI3-AS1', 'score': 14.53}, {'connected_gene': 'ACSF3', 'score': 13.77}, {'connected_gene': 'RPL13', 'score': 12.88}, {'connected_gene': 'SNORD68', 'score': 12.78}, {'connected_gene': 'ENSG00000268218', 'score': 11.96}, {'connected_gene': 'BANP', 'score': 11.25}, {'connected_gene': 'ENSG00000260121', 'score': 11.14}, {'connected_gene': 'ANKRD11', 'score': 10.89}, {'connected_gene': 'LOC101927863', 'score': 10.55}, {'connected_gene': 'RNF166', 'score': 8.7}, {'connected_gene': 'MVD', 'score': 5.02}]
chr16	GH16I088628	88628753	88628942	1.06	[{'connected_gene': 'ZC3H18', 'score': 16.58}, {'connected_gene': 'BANP', 'score': 13.77}, {'connected_gene': 'ACSF3', 'score': 13.24}, {'connected_gene': 'ANKRD11', 'score': 12.95}, {'connected_gene': 'ZNF778', 'score': 12.21}, {'connected_gene': 'GALNS', 'score': 11.94}, {'connected_gene': 'KLHDC4', 'score': 11.05}, {'connected_gene': 'ENSG00000268218', 'score': 10.71}, {'connected_gene': 'SNORD68', 'score': 10.65}, {'connected_gene': 'LOC101927863', 'score': 10.56}, {'connected_gene': 'CYBA', 'score': 6.01}, {'connected_gene': 'IL17C', 'score': 0.44}]
chr16	GH16I088591	88591456	88592462	0.75	[{'connected_gene': 'ZC3H18', 'score': 12.53}, {'connected_gene': 'IL17C', 'score': 12.29}, {'connected_gene': 'CYBA', 'score': 8.33}]
chr16	GH16I088598	88598320	88600438	0.77	[{'connected_gene': 'ZC3H18', 'score': 17.54}, {'connected_gene': 'CYBA', 'score': 12.7}, {'connected_gene': 'IL17C', 'score': 12.32}]
chr16	GH16I088691	88691401	88693407	0.77	[{'connected_gene': 'RNF166', 'score': 14.85}, {'connected_gene': 'MVD', 'score': 12.47}, {'connected_gene': 'CYBA', 'score': 12.42}, {'connected_gene': 'SNAI3-AS1', 'score': 6.41}, {'connected_gene': 'PIEZO1', 'score': 6.37}, {'connected_gene': 'ENSG00000259813', 'score': 0.77}, {'connected_gene': 'PIR40856', 'score': 0.44}]
chr16	GH16I088698	88698126	88707536	2.57	[{'connected_gene': 'RNF166', 'score': 587.49}, {'connected_gene': 'CTU2', 'score': 562.62}, {'connected_gene': 'SNAI3-AS1', 'score': 11.37}, {'connected_gene': 'SNAI3', 'score': 10.2}, {'connected_gene': 'ENSG00000260121', 'score': 7.56}, {'connected_gene': 'PIEZO1', 'score': 7.16}, {'connected_gene': 'CDK10', 'score': 5.44}, {'connected_gene': 'ZC3H18', 'score': 4.71}, {'connected_gene': 'APRT', 'score': 4.68}, {'connected_gene': 'CYBA', 'score': 2.8}, {'connected_gene': 'CBFA2T3', 'score': 2.61}, {'connected_gene': 'ZFPM1', 'score': 2.52}, {'connected_gene': 'GALNS', 'score': 1.5}, {'connected_gene': 'ACSF3', 'score': 1.21}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]
chr16	GH16I088685	88685153	88688756	2.04	[{'connected_gene': 'PIR40856', 'score': 550.77}, {'connected_gene': 'SNAI3', 'score': 550.77}, {'connected_gene': 'SNORD68', 'score': 23.55}, {'connected_gene': 'ACSF3', 'score': 22.34}, {'connected_gene': 'RPL13', 'score': 22.16}, {'connected_gene': 'ANKRD11', 'score': 19.63}, {'connected_gene': 'BANP', 'score': 19.37}, {'connected_gene': 'SNAI3-AS1', 'score': 13.47}, {'connected_gene': 'RNF166', 'score': 12.5}, {'connected_gene': 'MVD', 'score': 12.37}, {'connected_gene': 'CYBA', 'score': 12.31}, {'connected_gene': 'ENSG00000268218', 'score': 11.96}, {'connected_gene': 'ENSG00000260121', 'score': 11.23}, {'connected_gene': 'LOC101927863', 'score': 10.55}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'APRT', 'score': 10.1}, {'connected_gene': 'CTU2', 'score': 7.32}, {'connected_gene': 'PIEZO1', 'score': 7.18}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]
chr16	GH16I088329	88329846	88335866	1.75	[{'connected_gene': 'ENSG00000259877', 'score': 59.02}, {'connected_gene': 'ACSF3', 'score': 56.46}, {'connected_gene': 'ZC3H18', 'score': 53.31}, {'connected_gene': 'BANP', 'score': 39.87}, {'connected_gene': 'ENSG00000268218', 'score': 38.26}, {'connected_gene': 'ENSG00000260121', 'score': 31.66}, {'connected_gene': 'ZCCHC14', 'score': 29.05}, {'connected_gene': 'CTU2', 'score': 20.86}, {'connected_gene': 'GALNS', 'score': 20.82}, {'connected_gene': 'PIEZO1', 'score': 19.42}, {'connected_gene': 'LINC00304', 'score': 18.37}, {'connected_gene': 'ZNF778', 'score': 12.21}, {'connected_gene': 'ENSG00000269901', 'score': 11.06}, {'connected_gene': 'KLHDC4', 'score': 11.05}, {'connected_gene': 'APRT', 'score': 9.81}, {'connected_gene': 'ZNF469', 'score': 2.67}, {'connected_gene': 'CYBA', 'score': 2.38}, {'connected_gene': 'GC16P088248', 'score': 0.18}, {'connected_gene': 'ZFPM1', 'score': 0.13}]