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
ENST00000305748	[[53001353, 53002236], [53003030, 53003065], [53004398, 53004619], [53004987, 53005113], [53007471, 53007636], [53008362, 53008458], [53009062, 53009123], [53009949, 53010164], [53011861, 53012343]]	[[53001979, 53002236], [53003030, 53003065], [53004398, 53004619], [53004987, 53005113], [53007471, 53007636], [53008362, 53008458], [53009062, 53009123], [53009949, 53010164], [53011861, 53012308]]
ENST00000546934	[[53001519, 53002236], [53003030, 53003065], [53004398, 53005113], [53007471, 53007636], [53008362, 53008458], [53009062, 53009123], [53009949, 53010164], [53011861, 53012333]]	None
ENST00000552855	[[53001920, 53002236], [53003030, 53003065], [53004398, 53004619], [53004987, 53005113], [53007471, 53007636], [53009062, 53009116]]	[[53001979, 53002236], [53003030, 53003065], [53004398, 53004619], [53004987, 53005113], [53007471, 53007636], [53009062, 53009116]]
NM_175068	[[53001353, 53002236], [53003030, 53003065], [53004398, 53004619], [53004987, 53005113], [53007471, 53007636], [53008362, 53008458], [53009062, 53009123], [53009949, 53010164], [53011861, 53012343]]	[[53001979, 53002236], [53003030, 53003065], [53004398, 53004619], [53004987, 53005113], [53007471, 53007636], [53008362, 53008458], [53009062, 53009123], [53009949, 53010164], [53011861, 53012308]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH12I052583	52583337	52583459	0.69	[{'connected_gene': 'KRT1', 'score': 11.49}, {'connected_gene': 'KRT78', 'score': 10.38}, {'connected_gene': 'KRT84', 'score': 10.2}, {'connected_gene': 'KRT2', 'score': 10.12}, {'connected_gene': 'KRT73', 'score': 6.87}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT73-AS1', 'score': 0.37}, {'connected_gene': 'GC12P052549', 'score': 0.29}]
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	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	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}]