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
ENST00000266604	[[66516841, 66517798], [66522675, 66522893], [66524484, 66524548]]	[[66517619, 66517798], [66522675, 66522886]]
ENST00000446587	[[66517086, 66517798], [66522675, 66522893], [66524235, 66524482]]	[[66517619, 66517798], [66522675, 66522886]]
NM_032338	[[66516848, 66517798], [66522675, 66522893], [66524484, 66524533]]	[[66517619, 66517798], [66522675, 66522886]]

Promoter

Chrom	Start	End	Description
chr12	66524517	66524541	CAGE_peak_1_at_LLPH_5end
chr12	66563786	66563818	CAGE_peak_2_at_LLPH_5end,CAGE_peak_2_at_TMBIM4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	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	GH12I065194	65194868	65199470	0.54	[{'connected_gene': 'LEMD3', 'score': 21.24}, {'connected_gene': 'ENSG00000250280', 'score': 11.27}, {'connected_gene': 'MSRB3', 'score': 11.27}, {'connected_gene': 'LLPH', 'score': 4.71}, {'connected_gene': 'GC12P065213', 'score': 0.37}, {'connected_gene': 'ENSG00000276853', 'score': 0.31}]
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	GH12I066191	66191841	66191885	0.58	[{'connected_gene': 'LLPH-AS1', 'score': 10.51}, {'connected_gene': 'LLPH', 'score': 10.51}, {'connected_gene': 'ENSG00000256072', 'score': 10.49}, {'connected_gene': 'HELB', 'score': 9.94}, {'connected_gene': 'IRAK3', 'score': 0.77}, {'connected_gene': 'PIR44949', 'score': 0.29}]
chr12	GH12I066195	66195140	66196658	0.71	[{'connected_gene': 'LLPH-AS1', 'score': 10.64}, {'connected_gene': 'LLPH', 'score': 10.64}, {'connected_gene': 'ENSG00000256072', 'score': 10.5}, {'connected_gene': 'HELB', 'score': 10.02}, {'connected_gene': 'IRAK3', 'score': 0.44}, {'connected_gene': 'PIR44949', 'score': 0.31}]
chr12	GH12I066193	66193601	66194400	0.66	[{'connected_gene': 'LLPH-AS1', 'score': 10.51}, {'connected_gene': 'LLPH', 'score': 10.51}, {'connected_gene': 'ENSG00000256072', 'score': 10.5}, {'connected_gene': 'HELB', 'score': 9.95}, {'connected_gene': 'IRAK3', 'score': 0.44}, {'connected_gene': 'PIR44949', 'score': 0.29}]
chr12	GH12I066107	66107201	66107858	1.02	[{'connected_gene': 'LLPH-AS1', 'score': 42.81}, {'connected_gene': 'LLPH', 'score': 12.59}, {'connected_gene': 'HMGA2', 'score': 10.21}, {'connected_gene': 'RPSAP52', 'score': 10.21}, {'connected_gene': 'LEMD3', 'score': 10.0}, {'connected_gene': 'LOC100129940', 'score': 9.47}, {'connected_gene': 'RNA5SP362', 'score': 0.26}]
chr12	GH12I066087	66087481	66087800	0.88	[{'connected_gene': 'LLPH-AS1', 'score': 11.32}, {'connected_gene': 'LLPH', 'score': 11.32}, {'connected_gene': 'HMGA2', 'score': 10.42}, {'connected_gene': 'RPSAP52', 'score': 10.42}, {'connected_gene': 'RNA5SP362', 'score': 0.34}]
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}]