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
ENST00000448741	[[138724667, 138724835], [138726281, 138726417], [138727107, 138727170], [138734016, 138734310]]	[[138724700, 138724835], [138726281, 138726417], [138727107, 138727170], [138734016, 138734066]]
ENST00000607197	[[138725355, 138725734], [138726281, 138726417], [138727107, 138727288], [138734016, 138743334]]	[[138725632, 138725734], [138726281, 138726417], [138727107, 138727288], [138734016, 138734215]]
ENST00000367697	[[138725383, 138725734], [138726281, 138726417], [138727107, 138727170], [138734016, 138734310]]	[[138725632, 138725734], [138726281, 138726417], [138727107, 138727170], [138734016, 138734066]]
ENST00000453452	[[138727107, 138727170], [138733219, 138733393], [138734016, 138734291]]	[[138727107, 138727170], [138733219, 138733293]]
NM_001326380	[[138724667, 138724835], [138726281, 138726417], [138727107, 138727288], [138734016, 138734582]]	[[138724700, 138724835], [138726281, 138726417], [138727107, 138727288], [138734016, 138734215]]
NM_001326381	[[138725335, 138725734], [138726281, 138726417], [138727107, 138727170], [138734016, 138734582]]	[[138725632, 138725734], [138726281, 138726417], [138727107, 138727170], [138734016, 138734066]]
NM_014320	[[138725335, 138725734], [138726281, 138726417], [138727107, 138727288], [138734016, 138734582]]	[[138725632, 138725734], [138726281, 138726417], [138727107, 138727288], [138734016, 138734215]]

Promoter

Chrom	Start	End	Description
chr6	138725343	138725501	CAGE_peak_1_at_HEBP2_5end
chr6	138725514	138725525	CAGE_peak_6_at_HEBP2_5end
chr6	138725528	138725544	CAGE_peak_4_at_HEBP2_5end
chr6	138725549	138725568	CAGE_peak_3_at_HEBP2_5end
chr6	138725609	138725625	CAGE_peak_2_at_HEBP2_5end
chr6	138725633	138725644	CAGE_peak_5_at_HEBP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I137696	137696608	137700261	1.62	[{'connected_gene': 'TNFAIP3', 'score': 23.29}, {'connected_gene': 'LOC100130476', 'score': 11.42}, {'connected_gene': 'PERP', 'score': 10.25}, {'connected_gene': 'LOC442263', 'score': 7.33}, {'connected_gene': 'HEBP2', 'score': 4.39}, {'connected_gene': 'IFNGR1', 'score': 3.75}, {'connected_gene': 'ENSG00000283265', 'score': 0.44}, {'connected_gene': 'LOC102723649', 'score': 0.29}]
chr6	GH06I138100	138099487	138109653	2.52	[{'connected_gene': 'PERP', 'score': 559.88}, {'connected_gene': 'HEBP2', 'score': 5.31}, {'connected_gene': 'ARFGEF3', 'score': 4.44}, {'connected_gene': 'GC06P138107', 'score': 0.77}, {'connected_gene': 'LOC105378021', 'score': 0.2}]
chr6	GH06I138535	138535339	138548109	2.1	[{'connected_gene': 'NHSL1', 'score': 26.58}, {'connected_gene': 'FLJ46906', 'score': 15.04}, {'connected_gene': 'PERP', 'score': 9.83}, {'connected_gene': 'HEBP2', 'score': 4.75}, {'connected_gene': 'PBOV1', 'score': 2.4}, {'connected_gene': 'ENSG00000274594', 'score': 0.18}, {'connected_gene': 'LOC100129577', 'score': 0.14}]
chr6	GH06I138454	138454195	138457325	1.21	[{'connected_gene': 'NHSL1', 'score': 5.39}, {'connected_gene': 'HEBP2', 'score': 5.36}, {'connected_gene': 'PBOV1', 'score': 3.94}, {'connected_gene': 'ENSG00000274594', 'score': 0.44}, {'connected_gene': 'MIR3145', 'score': 0.34}]
chr6	GH06I138226	138226008	138228296	0.99	[{'connected_gene': 'ARFGEF3', 'score': 6.32}, {'connected_gene': 'HEBP2', 'score': 4.47}, {'connected_gene': 'PBOV1', 'score': 0.44}, {'connected_gene': 'GC06P138340', 'score': 0.14}]
chr6	GH06I138215	138215383	138215969	0.38	[{'connected_gene': 'ARFGEF3', 'score': 6.46}, {'connected_gene': 'HEBP2', 'score': 4.47}, {'connected_gene': 'PBOV1', 'score': 0.77}]
chr6	GH06I138426	138426031	138426951	0.2	[{'connected_gene': 'FLJ46906', 'score': 10.63}, {'connected_gene': 'NHSL1', 'score': 10.63}, {'connected_gene': 'PERP', 'score': 10.17}, {'connected_gene': 'HEBP2', 'score': 6.01}, {'connected_gene': 'MIR3145', 'score': 0.44}, {'connected_gene': 'PIR51373', 'score': 0.39}]
chr6	GH06I138409	138409609	138412413	0.99	[{'connected_gene': 'HEBP2', 'score': 18.29}, {'connected_gene': 'PERP', 'score': 9.93}, {'connected_gene': 'FLJ46906', 'score': 9.66}, {'connected_gene': 'NHSL1', 'score': 9.66}, {'connected_gene': 'PIR51373', 'score': 0.77}, {'connected_gene': 'MARCKSL1P2', 'score': 0.44}]
chr6	GH06I138330	138330424	138330573	0.2	[{'connected_gene': 'HEBP2', 'score': 9.79}, {'connected_gene': 'GC06P138340', 'score': 0.44}, {'connected_gene': 'PBOV1', 'score': 0.14}, {'connected_gene': 'ARFGEF3', 'score': 0.1}]
chr6	GH06I138242	138242244	138243293	0.49	[{'connected_gene': 'HEBP2', 'score': 4.97}, {'connected_gene': 'PBOV1', 'score': 0.34}, {'connected_gene': 'ARFGEF3', 'score': 0.18}, {'connected_gene': 'GC06P138340', 'score': 0.15}]
chr6	GH06I138331	138331225	138332544	0.46	[{'connected_gene': 'HEBP2', 'score': 8.93}, {'connected_gene': 'GC06P138340', 'score': 0.44}, {'connected_gene': 'PBOV1', 'score': 0.14}, {'connected_gene': 'ARFGEF3', 'score': 0.1}]
chr6	GH06I138403	138403039	138406693	2.09	[{'connected_gene': 'HEBP2', 'score': 598.66}, {'connected_gene': 'MARCKSL1P2', 'score': 550.77}, {'connected_gene': 'GC06M138402', 'score': 550.77}, {'connected_gene': 'CITED2', 'score': 10.44}, {'connected_gene': 'PIR51373', 'score': 0.39}]
chr6	GH06I139366	139366628	139377984	2.35	[{'connected_gene': 'CITED2', 'score': 550.77}, {'connected_gene': 'LOC102723690', 'score': 10.83}, {'connected_gene': 'REPS1', 'score': 10.02}, {'connected_gene': 'HEBP2', 'score': 4.93}, {'connected_gene': 'LOC100129844', 'score': 0.29}]