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
ENST00000543747	[[68042117, 68042194], [68050885, 68051376]]	[[68050906, 68051376]]
ENST00000344096	[[68042500, 68042962], [68043576, 68043725], [68050885, 68059186]]	[[68042913, 68042962], [68043576, 68043725], [68050885, 68052493]]
ENST00000393555	[[68042557, 68042962], [68050885, 68052689]]	[[68050906, 68052493]]
ENST00000537632	[[68042900, 68042962], [68043576, 68043725], [68046280, 68046480]]	None
ENST00000319833	[[68043461, 68043725], [68050885, 68051187]]	[[68050906, 68051187]]
ENST00000542503	[[68045248, 68045438], [68050885, 68051255]]	[[68045306, 68045438], [68050885, 68051255]]
NM_003583	[[68042511, 68042962], [68050885, 68056444]]	[[68050906, 68052493]]
NM_006482	[[68042511, 68042962], [68043576, 68043725], [68050885, 68056444]]	[[68042913, 68042962], [68043576, 68043725], [68050885, 68052493]]

Promoter

Chrom	Start	End	Description
chr12	68042495	68042508	CAGE_peak_2_at_DYRK2_5end
chr12	68042517	68042583	CAGE_peak_1_at_DYRK2_5end
chr12	68043654	68043674	CAGE_peak_7_at_DYRK2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I067682	67682061	67682189	0.4	[{'connected_gene': 'DYRK2', 'score': 12.37}, {'connected_gene': 'LOC105369816', 'score': 0.77}, {'connected_gene': 'LINC02421', 'score': 0.25}]
chr12	GH12I067631	67631695	67632750	0.31	[{'connected_gene': 'DYRK2', 'score': 0.37}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12	GH12I067633	67633801	67634000	0.38	[{'connected_gene': 'DYRK2', 'score': 0.39}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12	GH12I067634	67634401	67634600	0.31	[{'connected_gene': 'DYRK2', 'score': 0.39}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12	GH12I067680	67680610	67682035	0.83	[{'connected_gene': 'DYRK2', 'score': 12.37}, {'connected_gene': 'LINC01479', 'score': 7.17}, {'connected_gene': 'LOC105369816', 'score': 0.77}, {'connected_gene': 'LINC02421', 'score': 0.25}]
chr12	GH12I067646	67646997	67652110	2.17	[{'connected_gene': 'DYRK2', 'score': 550.77}, {'connected_gene': 'LINC01479', 'score': 5.81}, {'connected_gene': 'GC12P067661', 'score': 0.39}]
chr12	GH12I067655	67655941	67656090	0.4	[{'connected_gene': 'DYRK2', 'score': 0.44}, {'connected_gene': 'GC12P067661', 'score': 0.44}]
chr12	GH12I067653	67653005	67655262	0.31	[{'connected_gene': 'DYRK2', 'score': 0.44}, {'connected_gene': 'GC12P067661', 'score': 0.44}]
chr12	GH12I068556	68556749	68558747	0.86	[{'connected_gene': 'NUP107', 'score': 22.44}, {'connected_gene': 'RPL10P12', 'score': 21.61}, {'connected_gene': 'RAP1B', 'score': 12.97}, {'connected_gene': 'KRT8P39', 'score': 11.35}, {'connected_gene': 'LINC02384', 'score': 10.9}, {'connected_gene': 'SNORA70G', 'score': 10.88}, {'connected_gene': 'MDM1', 'score': 10.83}, {'connected_gene': 'DYRK2', 'score': 10.72}, {'connected_gene': 'CPSF6', 'score': 9.82}, {'connected_gene': 'RPSAP12', 'score': 0.77}, {'connected_gene': 'ENSG00000274459', 'score': 0.37}]
chr12	GH12I067592	67592158	67595180	1.02	[{'connected_gene': 'CAND1', 'score': 21.44}, {'connected_gene': 'ENSG00000235872', 'score': 10.53}, {'connected_gene': 'LINC02442', 'score': 0.77}, {'connected_gene': 'DYRK2', 'score': 0.23}]
chr12	GH12I067678	67678117	67679299	0.86	[{'connected_gene': 'LOC105369816', 'score': 550.77}, {'connected_gene': 'DYRK2', 'score': 12.37}, {'connected_gene': 'LINC01479', 'score': 6.13}, {'connected_gene': 'LINC02421', 'score': 0.23}]
chr12	GH12I067589	67589846	67590964	0.51	[{'connected_gene': 'LINC02442', 'score': 550.77}, {'connected_gene': 'ENSG00000235872', 'score': 11.24}, {'connected_gene': 'DYRK2', 'score': 0.22}]
chr12	GH12I067988	67988430	67993227	1.4	[{'connected_gene': 'IFNG-AS1', 'score': 567.46}, {'connected_gene': 'LINC01479', 'score': 10.47}, {'connected_gene': 'IFNG', 'score': 4.2}, {'connected_gene': 'IL22', 'score': 2.27}, {'connected_gene': 'DYRK2', 'score': 2.04}, {'connected_gene': 'GC12P067986', 'score': 0.77}, {'connected_gene': 'RPL39P28', 'score': 0.39}]
chr12	GH12I067628	67628483	67631510	1.1	[{'connected_gene': 'ENSG00000235872', 'score': 10.78}, {'connected_gene': 'DYRK2', 'score': 4.57}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12	GH12I067644	67644870	67646174	0.38	[{'connected_gene': 'ENSG00000235872', 'score': 11.58}, {'connected_gene': 'DYRK2', 'score': 0.77}, {'connected_gene': 'LINC02442', 'score': 0.22}]
chr12	GH12I067661	67661581	67661730	0.84	[{'connected_gene': 'GC12P067661', 'score': 550.77}, {'connected_gene': 'ENSG00000235872', 'score': 0.44}, {'connected_gene': 'DYRK2', 'score': 0.39}]
chr12	GH12I067656	67656301	67656450	0.4	[{'connected_gene': 'GC12P067661', 'score': 0.77}, {'connected_gene': 'DYRK2', 'score': 0.44}]
chr12	GH12I067663	67661795	67662136	0.64	[{'connected_gene': 'GC12P067661', 'score': 550.77}, {'connected_gene': 'ENSG00000235872', 'score': 0.44}, {'connected_gene': 'DYRK2', 'score': 0.39}]
chr12	GH12I067662	67662216	67663802	0.66	[{'connected_gene': 'GC12P067661', 'score': 550.77}, {'connected_gene': 'LINC01479', 'score': 6.53}, {'connected_gene': 'ENSG00000235872', 'score': 0.44}, {'connected_gene': 'DYRK2', 'score': 0.39}]