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
ENST00000537672	[[52979372, 52979619], [52979746, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995247]]	[[52979765, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995236]]
ENST00000293745	[[52979372, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995322]]	[[52979765, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995236]]
ENST00000354310	[[52979497, 52979956], [52980729, 52980764], [52981414, 52981635], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995322]]	[[52979765, 52979956], [52980729, 52980764], [52981414, 52981635], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995236]]
ENST00000550829	[[52979741, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52993054, 52993193], [52994810, 52995216]]	[[52993169, 52993193], [52994810, 52995216]]
ENST00000398066	[[52979741, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52993054, 52993193], [52994810, 52995216]]	[[52979765, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992758]]
ENST00000549979	[[52992737, 52992896], [52993054, 52993086], [52994810, 52995193]]	[[52992737, 52992896], [52993054, 52993086], [52994810, 52995193]]
NM_080747	[[52979372, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995322]]	[[52979765, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995236]]
NM_001146225	[[52979372, 52979619], [52979746, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995322]]	[[52979765, 52979956], [52980729, 52980764], [52981414, 52981635], [52984619, 52984745], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995236]]
NM_001146226	[[52979372, 52979956], [52980729, 52980764], [52981414, 52981635], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995322]]	[[52979765, 52979956], [52980729, 52980764], [52981414, 52981635], [52985247, 52985412], [52986179, 52986275], [52986675, 52986736], [52992681, 52992896], [52994810, 52995236]]

Promoter

Chrom	Start	End	Description
chr12	52995179	52995191	CAGE_peak_2_at_KRT72_5end
chr12	52995210	52995219	CAGE_peak_3_at_KRT72_5end
chr12	52995220	52995230	CAGE_peak_4_at_KRT72_5end
chr12	52995242	52995258	CAGE_peak_1_at_KRT72_5end
chr12	52995291	52995294	CAGE_peak_5_at_KRT72_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I052390	52390500	52392997	0.68	[{'connected_gene': 'KRT86', 'score': 17.33}, {'connected_gene': 'SP1', 'score': 15.56}, {'connected_gene': 'HNRNPA3P10', 'score': 15.25}, {'connected_gene': 'ZNF740', 'score': 14.46}, {'connected_gene': 'AAAS', 'score': 12.24}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'KRT6C', 'score': 9.98}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'KRT71', 'score': 9.77}, {'connected_gene': 'KRT83', 'score': 8.38}, {'connected_gene': 'KRT72', 'score': 5.98}, {'connected_gene': 'KRT84', 'score': 0.77}, {'connected_gene': 'KRT82', 'score': 0.39}, {'connected_gene': 'ENSG00000258253', 'score': 0.39}, {'connected_gene': 'GC12M052334', 'score': 0.2}, {'connected_gene': 'GC12M052373', 'score': 0.19}]
chr12	GH12I052566	52566380	52568150	0.52	[{'connected_gene': 'KRT1', 'score': 10.89}, {'connected_gene': 'KRT5', 'score': 10.09}, {'connected_gene': 'KRT79', 'score': 9.83}, {'connected_gene': 'KRT78', 'score': 9.73}, {'connected_gene': 'KRT4', 'score': 9.49}, {'connected_gene': 'KRT72', 'score': 8.4}, {'connected_gene': 'KRT73', 'score': 4.76}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT71', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.37}]
chr12	GH12I052586	52586117	52586266	0.43	[{'connected_gene': 'KRT1', 'score': 11.5}, {'connected_gene': 'KRT78', 'score': 10.38}, {'connected_gene': 'KRT84', 'score': 10.2}, {'connected_gene': 'KRT2', 'score': 10.12}, {'connected_gene': 'KRT74', 'score': 0.39}, {'connected_gene': 'KRT72', 'score': 0.37}, {'connected_gene': 'KRT73-AS1', 'score': 0.37}, {'connected_gene': 'GC12P052549', 'score': 0.28}]
chr12	GH12I052626	52626291	52627854	0.56	[{'connected_gene': 'KRT72', 'score': 39.44}, {'connected_gene': 'PCBP2', 'score': 14.92}, {'connected_gene': 'HNRNPA3P10', 'score': 14.88}, {'connected_gene': 'SP1', 'score': 14.57}, {'connected_gene': 'AAAS', 'score': 10.94}, {'connected_gene': 'ATF7', 'score': 10.71}, {'connected_gene': 'LOC100652999', 'score': 10.42}, {'connected_gene': 'ZNF740', 'score': 10.22}, {'connected_gene': 'KRT73', 'score': 5.38}, {'connected_gene': 'ENSG00000257475', 'score': 4.44}, {'connected_gene': 'LOC105369772', 'score': 0.77}, {'connected_gene': 'GC12P052549', 'score': 0.18}]
chr12	GH12I052609	52609217	52611129	0.51	[{'connected_gene': 'KRT72', 'score': 25.93}, {'connected_gene': 'KRT2', 'score': 11.11}, {'connected_gene': 'KRT71', 'score': 10.68}, {'connected_gene': 'KRT78', 'score': 10.15}, {'connected_gene': 'KRT76', 'score': 10.13}, {'connected_gene': 'KRT79', 'score': 9.96}, {'connected_gene': 'KRT73', 'score': 6.85}, {'connected_gene': 'GC12P052616', 'score': 0.44}, {'connected_gene': 'KRT73-AS1', 'score': 0.44}, {'connected_gene': 'GC12P052549', 'score': 0.21}]
chr12	GH12I052579	52579604	52583286	1.02	[{'connected_gene': 'KRT72', 'score': 34.39}, {'connected_gene': 'KRT1', 'score': 11.49}, {'connected_gene': 'KRT71', 'score': 10.96}, {'connected_gene': 'KRT78', 'score': 10.38}, {'connected_gene': 'KRT79', 'score': 10.37}, {'connected_gene': 'KRT2', 'score': 10.26}, {'connected_gene': 'KRT84', 'score': 10.2}, {'connected_gene': 'KRT4', 'score': 10.0}, {'connected_gene': 'KRT6C', 'score': 9.87}, {'connected_gene': 'KRT76', 'score': 9.5}, {'connected_gene': 'KRT83', 'score': 9.1}, {'connected_gene': 'KRT73', 'score': 6.82}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT73-AS1', 'score': 0.34}, {'connected_gene': 'GC12P052549', 'score': 0.29}]
chr12	GH12I052558	52558486	52560459	0.43	[{'connected_gene': 'KRT72', 'score': 7.34}, {'connected_gene': 'KRT71', 'score': 0.44}, {'connected_gene': 'GC12P052549', 'score': 0.44}, {'connected_gene': 'KRT74', 'score': 0.39}]
chr12	GH12I052601	52601453	52601512	0.5	[{'connected_gene': 'KRT72', 'score': 550.77}, {'connected_gene': 'KRT73-AS1', 'score': 550.77}, {'connected_gene': 'GC12P052549', 'score': 0.23}]
chr12	GH12I052631	52631757	52633063	0.2	[{'connected_gene': 'LOC105369772', 'score': 550.77}, {'connected_gene': 'KRT72', 'score': 38.99}, {'connected_gene': 'KRT73', 'score': 5.02}, {'connected_gene': 'KRT128P', 'score': 0.77}, {'connected_gene': 'GC12P052549', 'score': 0.18}]
chr12	GH12I052630	52630659	52631059	0.66	[{'connected_gene': 'LOC105369772', 'score': 550.77}, {'connected_gene': 'KRT72', 'score': 39.93}, {'connected_gene': 'ENSG00000257605', 'score': 11.92}, {'connected_gene': 'HNRNPA3P10', 'score': 11.16}, {'connected_gene': 'ATG101', 'score': 10.98}, {'connected_gene': 'KRT73', 'score': 8.26}, {'connected_gene': 'GC12P052549', 'score': 0.18}]
chr12	GH12I052633	52633457	52633626	0.58	[{'connected_gene': 'LOC105369772', 'score': 550.77}, {'connected_gene': 'KRT128P', 'score': 550.77}, {'connected_gene': 'KRT72', 'score': 38.45}, {'connected_gene': 'GC12P052549', 'score': 0.18}]
chr12	GH12I052614	52614969	52616201	0.58	[{'connected_gene': 'GC12P052616', 'score': 550.77}, {'connected_gene': 'KRT1', 'score': 10.88}, {'connected_gene': 'KRT2', 'score': 10.57}, {'connected_gene': 'KRT71', 'score': 9.95}, {'connected_gene': 'KRT78', 'score': 9.91}, {'connected_gene': 'KRT84', 'score': 9.67}, {'connected_gene': 'KRT73', 'score': 0.77}, {'connected_gene': 'KRT72', 'score': 0.39}, {'connected_gene': 'KRT73-AS1', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.2}]