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

Promoter

Chrom	Start	End	Description
chr12	66562929	66562938	CAGE_peak_12_at_TMBIM4_5end
chr12	66562972	66562997	CAGE_peak_4_at_TMBIM4_5end
chr12	66563728	66563784	CAGE_peak_1_at_TMBIM4_5end
chr12	66563786	66563818	CAGE_peak_2_at_LLPH_5end,CAGE_peak_2_at_TMBIM4_5end
chr12	66563831	66563847	CAGE_peak_3_at_TMBIM4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I066267	66267601	66270106	1.21	[{'connected_gene': 'HELB', 'score': 29.86}, {'connected_gene': 'IRAK3', 'score': 26.24}, {'connected_gene': 'TMBIM4', 'score': 3.84}, {'connected_gene': 'PDCL3P7', 'score': 0.44}, {'connected_gene': 'ENSG00000256072', 'score': 0.39}]
chr12	GH12I066234	66234512	66236201	1.86	[{'connected_gene': 'RBMS1P1', 'score': 550.77}, {'connected_gene': 'IRAK3', 'score': 21.81}, {'connected_gene': 'TMBIM4', 'score': 14.06}, {'connected_gene': 'ENSG00000228144', 'score': 11.72}, {'connected_gene': 'HELB', 'score': 11.41}, {'connected_gene': 'ENSG00000256072', 'score': 11.38}, {'connected_gene': 'LLPH-AS1', 'score': 10.32}, {'connected_gene': 'LLPH', 'score': 10.32}, {'connected_gene': 'MIR6502', 'score': 0.37}]
chr12	GH12I066235	66234101	66234270	1.04	[{'connected_gene': 'RBMS1P1', 'score': 550.77}, {'connected_gene': 'IRAK3', 'score': 12.46}, {'connected_gene': 'TMBIM4', 'score': 11.73}, {'connected_gene': 'ENSG00000228144', 'score': 11.73}, {'connected_gene': 'ENSG00000256072', 'score': 11.38}, {'connected_gene': 'LLPH-AS1', 'score': 10.32}, {'connected_gene': 'LLPH', 'score': 10.32}, {'connected_gene': 'HELB', 'score': 10.3}, {'connected_gene': 'PIR44949', 'score': 0.44}]
chr12	GH12I066144	66144601	66145870	1.23	[{'connected_gene': 'TMBIM4', 'score': 30.76}, {'connected_gene': 'LLPH', 'score': 0.39}, {'connected_gene': 'ENSG00000228144', 'score': 0.34}]
chr12	GH12I066168	66168186	66170881	2.33	[{'connected_gene': 'TMBIM4', 'score': 550.77}, {'connected_gene': 'ENSG00000228144', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 34.71}, {'connected_gene': 'LLPH-AS1', 'score': 8.96}, {'connected_gene': 'LLPH', 'score': 0.28}]
chr12	GH12I065493	65493092	65496069	1.02	[{'connected_gene': 'TMBIM4', 'score': 11.12}, {'connected_gene': 'GC12M065495', 'score': 0.77}, {'connected_gene': 'LOC105369809', 'score': 0.34}, {'connected_gene': 'LOC105369187', 'score': 0.11}, {'connected_gene': 'LOC100507065', 'score': 0.11}]
chr12	GH12I066162	66162808	66164076	0.31	[{'connected_gene': 'TMBIM4', 'score': 30.85}, {'connected_gene': 'LLPH-AS1', 'score': 22.0}, {'connected_gene': 'HELB', 'score': 10.9}, {'connected_gene': 'ENSG00000228144', 'score': 0.44}, {'connected_gene': 'LLPH', 'score': 0.29}]
chr12	GH12I065858	65858484	65859940	0.92	[{'connected_gene': 'RPSAP52', 'score': 11.24}, {'connected_gene': 'HMGA2', 'score': 11.22}, {'connected_gene': 'TMBIM4', 'score': 11.15}, {'connected_gene': 'ENSG00000256083', 'score': 10.66}, {'connected_gene': 'GC12M065867', 'score': 0.44}, {'connected_gene': 'LOC100129940', 'score': 0.34}, {'connected_gene': 'ENSG00000277945', 'score': 0.31}]
chr12	GH12I065821	65821240	65831543	2.74	[{'connected_gene': 'RPSAP52', 'score': 554.91}, {'connected_gene': 'HMGA2', 'score': 553.78}, {'connected_gene': 'GC12M065825', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 55.97}, {'connected_gene': 'LOC100129940', 'score': 11.74}, {'connected_gene': 'TMBIM4', 'score': 11.14}, {'connected_gene': 'ENSG00000250280', 'score': 10.31}, {'connected_gene': 'ENSG00000256083', 'score': 10.09}, {'connected_gene': 'ENSG00000277945', 'score': 0.77}]
chr12	GH12I066204	66204314	66205638	0.2	[{'connected_gene': 'IRAK3', 'score': 7.42}, {'connected_gene': 'TMBIM4', 'score': 6.46}, {'connected_gene': 'PIR44949', 'score': 0.34}]
chr12	GH12I066186	66186992	66191814	2.29	[{'connected_gene': 'IRAK3', 'score': 591.97}, {'connected_gene': 'LLPH-AS1', 'score': 30.74}, {'connected_gene': 'LLPH', 'score': 10.32}, {'connected_gene': 'ENSG00000256072', 'score': 9.84}, {'connected_gene': 'TMBIM4', 'score': 2.38}, {'connected_gene': 'HELB', 'score': 1.22}, {'connected_gene': 'PIR44949', 'score': 0.28}]
chr12	GH12I066129	66129657	66133198	2.01	[{'connected_gene': 'LLPH-AS1', 'score': 600.72}, {'connected_gene': 'LLPH', 'score': 550.77}, {'connected_gene': 'HELB', 'score': 9.42}, {'connected_gene': 'TMBIM4', 'score': 7.14}, {'connected_gene': 'ENSG00000228144', 'score': 0.28}]
chr12	GH12I066150	66150061	66150830	0.83	[{'connected_gene': 'LLPH-AS1', 'score': 35.06}, {'connected_gene': 'IRAK3', 'score': 11.68}, {'connected_gene': 'ENSG00000256072', 'score': 10.75}, {'connected_gene': 'HELB', 'score': 10.15}, {'connected_gene': 'TMBIM4', 'score': 7.07}, {'connected_gene': 'LLPH', 'score': 0.37}, {'connected_gene': 'ENSG00000228144', 'score': 0.37}]
chr12	GH12I066196	66196770	66197997	0.89	[{'connected_gene': 'ENSG00000256072', 'score': 10.7}, {'connected_gene': 'HELB', 'score': 10.02}, {'connected_gene': 'IRAK3', 'score': 8.02}, {'connected_gene': 'TMBIM4', 'score': 5.66}, {'connected_gene': 'LLPH-AS1', 'score': 5.14}, {'connected_gene': 'PIR44949', 'score': 0.31}]
chr12	GH12I066172	66172801	66173200	0.51	[{'connected_gene': 'ENSG00000256072', 'score': 9.84}, {'connected_gene': 'HELB', 'score': 9.64}, {'connected_gene': 'LLPH-AS1', 'score': 8.94}, {'connected_gene': 'TMBIM4', 'score': 0.77}, {'connected_gene': 'IRAK3', 'score': 0.37}]
chr12	GH12I066223	66223891	66225442	0.2	[{'connected_gene': 'PIR44949', 'score': 550.77}, {'connected_gene': 'ENSG00000256072', 'score': 11.03}, {'connected_gene': 'IRAK3', 'score': 7.29}, {'connected_gene': 'TMBIM4', 'score': 6.37}, {'connected_gene': 'LLPH-AS1', 'score': 4.95}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000556010	[[66517708, 66517798], [66522675, 66522893], [66531743, 66531909], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563765]]	[[66531866, 66531909], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563731]]
ENST00000358230	[[66529625, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563852]]	[[66531739, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563731]]
ENST00000544599	[[66530716, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66562694, 66563291]]	[[66531739, 66531925]]
ENST00000538217	[[66531608, 66531946], [66532503, 66532717]]	None
ENST00000286424	[[66531613, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66553944, 66554085], [66563634, 66563742]]	[[66531739, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66553944, 66554085], [66563634, 66563731]]
ENST00000398033	[[66531613, 66531946], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563778]]	[[66531924, 66531946], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563731]]
ENST00000542724	[[66531618, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547190], [66563634, 66563807]]	[[66531739, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547190], [66563634, 66563676]]
ENST00000545407	[[66531621, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66562694, 66563133], [66563634, 66563760]]	[[66562950, 66563133], [66563634, 66563676]]
ENST00000545504	[[66531885, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66563634, 66563784]]	[[66539725, 66539738], [66541687, 66541721], [66563634, 66563731]]
ENST00000534930	[[66532524, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563069, 66563133], [66563634, 66563749]]	[[66563098, 66563133], [66563634, 66563731]]
ENST00000542072	[[66554867, 66554952], [66563634, 66563769]]	None
ENST00000535812	[[66562525, 66563133], [66563634, 66563792]]	None
NM_001282606	[[66530715, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66553944, 66554085], [66563634, 66563852]]	[[66531739, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66553944, 66554085], [66563634, 66563731]]
NM_016056	[[66530715, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563852]]	[[66531739, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563731]]
NM_001282609	[[66530715, 66531946], [66532503, 66532514], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563852]]	[[66531932, 66531946], [66532503, 66532514], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547228], [66563634, 66563731]]
NM_001282610	[[66530715, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547190], [66563634, 66563852]]	[[66531739, 66531946], [66532503, 66532549], [66539620, 66539738], [66541687, 66541721], [66546050, 66546156], [66547119, 66547190], [66563634, 66563676]]