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
ENST00000255192	[[78365539, 78365638], [78373302, 78373435], [78375191, 78375283], [78376509, 78376701], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78385289]]	[[78365605, 78365638], [78373302, 78373435], [78375191, 78375283], [78376509, 78376701], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78384397]]
ENST00000521567	[[78365589, 78365638], [78373302, 78373435], [78375191, 78375283], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78385018]]	[[78365605, 78365638], [78373302, 78373435], [78375191, 78375283], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78384397]]
ENST00000518666	[[78365589, 78365638], [78366915, 78367038], [78373302, 78373435], [78375191, 78375283], [78376509, 78376636]]	[[78375205, 78375283], [78376509, 78376636]]
ENST00000518758	[[78365590, 78365638], [78373302, 78373435], [78375191, 78375283], [78376509, 78376764]]	None
ENST00000519743	[[78365591, 78365638], [78373302, 78373348], [78373410, 78373435], [78375191, 78375283], [78376509, 78376701], [78378631, 78378779], [78379014, 78379042]]	[[78365605, 78365638], [78373302, 78373348], [78373410, 78373435], [78375191, 78375264]]
ENST00000523472	[[78365598, 78365638], [78373302, 78373964]]	None
ENST00000523046	[[78378214, 78378779], [78379014, 78379021]]	None
NM_001178005	[[78365546, 78365638], [78373302, 78373435], [78375191, 78375283], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78385897]]	[[78365605, 78365638], [78373302, 78373435], [78375191, 78375283], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78384397]]
NM_017614	[[78365546, 78365638], [78373302, 78373435], [78375191, 78375283], [78376509, 78376701], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78385897]]	[[78365605, 78365638], [78373302, 78373435], [78375191, 78375283], [78376509, 78376701], [78378631, 78378779], [78379014, 78379197], [78379450, 78379679], [78384315, 78384397]]

Promoter

Chrom	Start	End	Description
chr5	78365455	78365489	CAGE_peak_3_at_BHMT2_5end
chr5	78365536	78365543	CAGE_peak_4_at_BHMT2_5end
chr5	78365545	78365572	CAGE_peak_2_at_BHMT2_5end
chr5	78365577	78365599	CAGE_peak_1_at_BHMT2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I079318	79318556	79320253	0.92	[{'connected_gene': 'BHMT', 'score': 10.46}, {'connected_gene': 'DMGDH', 'score': 8.58}, {'connected_gene': 'BHMT2', 'score': 5.95}, {'connected_gene': 'LOC102724530', 'score': 0.31}, {'connected_gene': 'RPS3AP20', 'score': 0.29}, {'connected_gene': 'JMY', 'score': 0.18}]
chr5	GH05I079107	79107178	79107327	0.65	[{'connected_gene': 'BHMT', 'score': 0.77}, {'connected_gene': 'BHMT2', 'score': 0.28}, {'connected_gene': 'DMGDH', 'score': 0.13}]
chr5	GH05I079025	79025201	79025600	0.7	[{'connected_gene': 'BHMT', 'score': 12.5}, {'connected_gene': 'BHMT2', 'score': 7.86}, {'connected_gene': 'GC05M079042', 'score': 0.37}, {'connected_gene': 'LOC100505796', 'score': 0.34}, {'connected_gene': 'DMGDH', 'score': 0.08}]
chr5	GH05I079030	79030223	79032592	0.87	[{'connected_gene': 'BHMT', 'score': 11.8}, {'connected_gene': 'LHFPL2', 'score': 9.16}, {'connected_gene': 'BHMT2', 'score': 7.87}, {'connected_gene': 'GC05M079042', 'score': 0.39}, {'connected_gene': 'LOC100505796', 'score': 0.29}, {'connected_gene': 'DMGDH', 'score': 0.08}]
chr5	GH05I079240	79240201	79240600	0.64	[{'connected_gene': 'BHMT', 'score': 10.59}, {'connected_gene': 'LOC100500934', 'score': 10.02}, {'connected_gene': 'SCAMP1-AS1', 'score': 9.79}, {'connected_gene': 'BHMT2', 'score': 5.46}, {'connected_gene': 'JMY', 'score': 0.77}, {'connected_gene': 'GC05M079243', 'score': 0.44}]
chr5	GH05I079020	79020508	79021616	0.95	[{'connected_gene': 'ARSB', 'score': 15.93}, {'connected_gene': 'BHMT', 'score': 11.59}, {'connected_gene': 'BHMT2', 'score': 7.62}, {'connected_gene': 'LOC100505796', 'score': 0.37}, {'connected_gene': 'GC05M079042', 'score': 0.34}, {'connected_gene': 'DMGDH', 'score': 0.08}]
chr5	GH05I079069	79069201	79070703	1.72	[{'connected_gene': 'BHMT2', 'score': 568.01}, {'connected_gene': 'DMGDH', 'score': 550.1}, {'connected_gene': 'BHMT', 'score': 0.26}]
chr5	GH05I078972	78972073	78975081	0.88	[{'connected_gene': 'JMY', 'score': 14.14}, {'connected_gene': 'RPS3AP20', 'score': 12.02}, {'connected_gene': 'BHMT2', 'score': 5.43}, {'connected_gene': 'GC05P078984', 'score': 0.39}, {'connected_gene': 'ARSB', 'score': 0.39}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5	GH05I078646	78646505	78650809	2.15	[{'connected_gene': 'LHFPL2', 'score': 550.13}, {'connected_gene': 'BHMT2', 'score': 4.37}, {'connected_gene': 'HMGB1P21', 'score': 0.77}, {'connected_gene': 'ENSG00000254170', 'score': 0.2}]