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
ENST00000394607	[[110967001, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119523], [111119677, 111119809]]	[[110972493, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119491]]
ENST00000302274	[[110970542, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119832]]	[[110972493, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119491]]
ENST00000514184	[[110972825, 110972918], [110980758, 110980910], [111014261, 111014290], [111026652, 111026784], [111119402, 111119523], [111120255, 111120335]]	[[110980863, 110980910], [111014261, 111014290], [111026652, 111026784], [111119402, 111119491]]
ENST00000506625	[[110972881, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119523], [111119997, 111120165]]	[[110972881, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119491]]
ENST00000506461	[[110980800, 110980910], [111014261, 111014290], [111026652, 111026784], [111119402, 111119706]]	None
ENST00000503885	[[110980805, 110980910], [111026652, 111026784], [111119402, 111119523], [111120255, 111120355]]	[[110980805, 110980910], [111026652, 111026784], [111119402, 111119491]]
ENST00000507451	[[110972849, 110972918], [110980758, 110981195]]	None
ENST00000513003	[[111119046, 111119130], [111119402, 111119522]]	None
NM_001130721	[[110970228, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119523], [111119677, 111119771]]	[[110972493, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119491]]
NM_024090	[[110970228, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119820]]	[[110972493, 110972918], [110980758, 110980910], [111026652, 111026784], [111119402, 111119491]]

Promoter

Chrom	Start	End	Description
chr4	110980983	110980988	CAGE_peak_17_at_ELOVL6_5end
chr4	111119662	111119731	CAGE_peak_1_at_ELOVL6_5end
chr4	111119735	111119778	CAGE_peak_2_at_ELOVL6_5end
chr4	111119804	111119813	CAGE_peak_6_at_ELOVL6_5end
chr4	111119921	111119940	CAGE_peak_4_at_ELOVL6_5end
chr4	111120132	111120167	CAGE_peak_8_at_ELOVL6_5end
chr4	111120334	111120361	CAGE_peak_3_at_ELOVL6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I110234	110234817	110234874	0.22	[{'connected_gene': 'ELOVL6', 'score': 11.27}, {'connected_gene': 'ENSG00000250511', 'score': 10.11}, {'connected_gene': 'ENPEP', 'score': 9.62}, {'connected_gene': 'LRIT3', 'score': 7.0}, {'connected_gene': 'GC04M110252', 'score': 0.37}]
chr4	GH04I110128	110128265	110129980	0.43	[{'connected_gene': 'ELOVL6', 'score': 16.97}, {'connected_gene': 'RN7SL275P', 'score': 0.39}, {'connected_gene': 'ENSG00000248200', 'score': 0.37}]
chr4	GH04I110102	110102836	110103116	0.23	[{'connected_gene': 'ELOVL6', 'score': 10.8}, {'connected_gene': 'RN7SL275P', 'score': 0.39}, {'connected_gene': 'GC04M110046', 'score': 0.22}]
chr4	GH04I110130	110130301	110136622	0.77	[{'connected_gene': 'ELOVL6', 'score': 10.99}, {'connected_gene': 'ENSG00000248200', 'score': 0.39}, {'connected_gene': 'RN7SL275P', 'score': 0.37}]
chr4	GH04I110118	110118784	110121166	0.8	[{'connected_gene': 'ELOVL6', 'score': 16.31}, {'connected_gene': 'RN7SL275P', 'score': 0.77}, {'connected_gene': 'ENSG00000248200', 'score': 0.31}]
chr4	GH04I110192	110192876	110199852	2.62	[{'connected_gene': 'ELOVL6', 'score': 554.87}, {'connected_gene': 'SEC24B', 'score': 22.52}, {'connected_gene': 'GAR1', 'score': 20.72}, {'connected_gene': 'SETP20', 'score': 18.76}, {'connected_gene': 'CDC42P4', 'score': 13.01}, {'connected_gene': 'CASP6', 'score': 10.05}, {'connected_gene': 'ENSG00000250511', 'score': 9.83}, {'connected_gene': 'ENSG00000248200', 'score': 0.25}]
chr4	GH04I110058	110058878	110061452	0.91	[{'connected_gene': 'ELOVL6', 'score': 11.24}, {'connected_gene': 'RNU6-35P', 'score': 11.14}, {'connected_gene': 'EGF', 'score': 11.05}, {'connected_gene': 'LRIT3', 'score': 4.27}, {'connected_gene': 'GC04M110046', 'score': 0.39}, {'connected_gene': 'RN7SL275P', 'score': 0.22}]
chr4	GH04I110162	110162806	110166867	1.02	[{'connected_gene': 'ELOVL6', 'score': 11.78}, {'connected_gene': 'ENSG00000250511', 'score': 8.93}, {'connected_gene': 'ENSG00000248200', 'score': 0.37}]
chr4	GH04I110183	110183745	110183894	0.43	[{'connected_gene': 'ELOVL6', 'score': 0.37}, {'connected_gene': 'ENSG00000248200', 'score': 0.28}]
chr4	GH04I110171	110171702	110173728	0.52	[{'connected_gene': 'ELOVL6', 'score': 0.31}, {'connected_gene': 'ENSG00000248200', 'score': 0.31}]
chr4	GH04I110184	110184374	110185461	0.97	[{'connected_gene': 'ELOVL6', 'score': 0.39}, {'connected_gene': 'ENSG00000248200', 'score': 0.28}]
chr4	GH04I110106	110106041	110107671	1.22	[{'connected_gene': 'LRIT3', 'score': 4.78}, {'connected_gene': 'RN7SL275P', 'score': 0.39}, {'connected_gene': 'GC04M110046', 'score': 0.22}, {'connected_gene': 'ELOVL6', 'score': 0.16}]
chr4	GH04I110475	110475454	110477041	1.68	[{'connected_gene': 'ENPEP', 'score': 573.83}, {'connected_gene': 'ENSG00000250511', 'score': 10.36}, {'connected_gene': 'ELOVL6', 'score': 9.55}, {'connected_gene': 'GC04M110483', 'score': 0.37}, {'connected_gene': 'GC04M110434', 'score': 0.26}, {'connected_gene': 'ENSG00000199894', 'score': 0.26}]
chr4	GH04I110084	110084770	110086017	0.89	[{'connected_gene': 'RN7SL275P', 'score': 0.29}, {'connected_gene': 'GC04M110046', 'score': 0.28}, {'connected_gene': 'ELOVL6', 'score': 0.14}]
chr4	GH04I110091	110090425	110090594	0.31	[{'connected_gene': 'RN7SL275P', 'score': 0.31}, {'connected_gene': 'GC04M110046', 'score': 0.26}, {'connected_gene': 'ELOVL6', 'score': 0.14}]
chr4	GH04I110086	110086857	110089674	1	[{'connected_gene': 'RN7SL275P', 'score': 0.31}, {'connected_gene': 'GC04M110046', 'score': 0.26}, {'connected_gene': 'ELOVL6', 'score': 0.14}]
chr4	GH04I110032	110032517	110033065	0.49	[{'connected_gene': 'RNU6-35P', 'score': 12.4}, {'connected_gene': 'EGF', 'score': 12.26}, {'connected_gene': 'ELOVL6', 'score': 11.39}, {'connected_gene': 'GC04M110046', 'score': 0.39}, {'connected_gene': 'GC04M110017', 'score': 0.39}]
chr4	GH04I110033	110033601	110034400	0.68	[{'connected_gene': 'RNU6-35P', 'score': 12.4}, {'connected_gene': 'EGF', 'score': 12.26}, {'connected_gene': 'ELOVL6', 'score': 11.39}, {'connected_gene': 'ENSG00000250511', 'score': 10.75}, {'connected_gene': 'GC04M110046', 'score': 0.39}, {'connected_gene': 'GC04M110017', 'score': 0.39}]
chr4	GH04I110090	110090794	110092510	0.69	[{'connected_gene': 'SEC24B-AS1', 'score': 4.57}, {'connected_gene': 'RN7SL275P', 'score': 0.31}, {'connected_gene': 'GC04M110046', 'score': 0.26}, {'connected_gene': 'ELOVL6', 'score': 0.14}]
chr4	GH04I109988	109988535	109991097	0.84	[{'connected_gene': 'ENSG00000250511', 'score': 11.41}, {'connected_gene': 'ELOVL6', 'score': 9.95}, {'connected_gene': 'EGF', 'score': 5.88}, {'connected_gene': 'GC04P109993', 'score': 0.77}]
chr4	GH04I110054	110054948	110056037	0.73	[{'connected_gene': 'GC04M110046', 'score': 0.44}, {'connected_gene': 'RN7SL275P', 'score': 0.21}, {'connected_gene': 'ELOVL6', 'score': 0.11}]