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
ENST00000296218	[[38022519, 38022676], [38023203, 38023349], [38024927, 38025097], [38027157, 38027336], [38027681, 38027846], [38030626, 38032458]]	[[38022529, 38022676], [38023203, 38023349], [38024927, 38025097], [38027157, 38027336], [38027681, 38027846], [38030626, 38030662]]
ENST00000490312	[[38022553, 38022676], [38023203, 38023792]]	None
ENST00000466723	[[38022598, 38022676], [38023203, 38023349], [38027157, 38027336], [38027681, 38027789]]	None
ENST00000541606	[[38022606, 38022676], [38023203, 38023349], [38027157, 38027336], [38027681, 38027846], [38030626, 38031234]]	[[38023330, 38023349], [38027157, 38027336], [38027681, 38027846], [38030626, 38030662]]
ENST00000497858	[[38026138, 38027846], [38030626, 38032457]]	None
ENST00000467277	[[38027001, 38027336], [38027681, 38027846], [38030626, 38030747]]	None
NM_003462	[[38022519, 38022676], [38023203, 38023349], [38024927, 38025097], [38027157, 38027336], [38027681, 38027846], [38030626, 38032458]]	[[38022529, 38022676], [38023203, 38023349], [38024927, 38025097], [38027157, 38027336], [38027681, 38027846], [38030626, 38030662]]

Promoter

Chrom	Start	End	Description
chr1	38022513	38022571	CAGE_peak_1_at_DNALI1_5end
chr1	38022572	38022613	CAGE_peak_2_at_DNALI1_5end
chr1	38022614	38022623	CAGE_peak_3_at_DNALI1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I037470	37470221	37488505	2.85	[{'connected_gene': 'ZC3H12A', 'score': 596.91}, {'connected_gene': 'MIR6732', 'score': 550.77}, {'connected_gene': 'LINC01137', 'score': 44.26}, {'connected_gene': 'MTF1', 'score': 33.94}, {'connected_gene': 'SNIP1', 'score': 21.25}, {'connected_gene': 'GNL2', 'score': 17.01}, {'connected_gene': 'DNALI1', 'score': 14.31}, {'connected_gene': 'SF3A3', 'score': 14.23}, {'connected_gene': 'FTH1P1', 'score': 10.37}, {'connected_gene': 'MEAF6', 'score': 9.98}, {'connected_gene': 'YRDC', 'score': 3.72}, {'connected_gene': 'C1orf122', 'score': 1.83}, {'connected_gene': 'PIR46555', 'score': 0.77}, {'connected_gene': 'GC01M037470', 'score': 0.44}]
chr1	GH01I037507	37507668	37508571	0.69	[{'connected_gene': 'DNALI1', 'score': 25.12}, {'connected_gene': 'LINC01137', 'score': 15.32}, {'connected_gene': 'ZC3H12A', 'score': 10.99}, {'connected_gene': 'RPS27P9', 'score': 10.7}, {'connected_gene': 'SNIP1', 'score': 10.7}, {'connected_gene': 'GNL2', 'score': 10.17}, {'connected_gene': 'MEAF6', 'score': 0.44}, {'connected_gene': 'MIR5581', 'score': 0.44}]
chr1	GH01I037574	37574213	37578162	0.56	[{'connected_gene': 'DNALI1', 'score': 16.38}, {'connected_gene': 'MEAF6', 'score': 13.76}, {'connected_gene': 'CDCA8', 'score': 10.25}, {'connected_gene': 'C1orf109', 'score': 10.25}, {'connected_gene': 'RSPO1', 'score': 5.78}, {'connected_gene': 'GNL2', 'score': 0.37}]
chr1	GH01I037605	37605715	37607000	0.38	[{'connected_gene': 'DNALI1', 'score': 24.06}, {'connected_gene': 'CDCA8', 'score': 10.69}, {'connected_gene': 'C1orf109', 'score': 10.69}, {'connected_gene': 'SNIP1', 'score': 10.4}, {'connected_gene': 'RPS27P9', 'score': 10.4}, {'connected_gene': 'ENSG00000233728', 'score': 9.3}, {'connected_gene': 'ENSG00000284748', 'score': 0.39}, {'connected_gene': 'RSPO1', 'score': 0.31}]
chr1	GH01I038450	38450593	38452591	0.56	[{'connected_gene': 'DNALI1', 'score': 4.39}, {'connected_gene': 'GC01M038436', 'score': 0.39}, {'connected_gene': 'LINC01685', 'score': 0.34}, {'connected_gene': 'LOC105378657', 'score': 0.23}]
chr1	GH01I037533	37533413	37535851	1.18	[{'connected_gene': 'DNALI1', 'score': 11.87}, {'connected_gene': 'RPS27P9', 'score': 11.87}, {'connected_gene': 'MEAF6', 'score': 8.22}, {'connected_gene': 'LINC01137', 'score': 5.13}, {'connected_gene': 'LOC105378649', 'score': 0.77}, {'connected_gene': 'FTH1P1', 'score': 0.44}, {'connected_gene': 'SNIP1', 'score': 0.37}]
chr1	GH01I037556	37556395	37557946	1.79	[{'connected_gene': 'DNALI1', 'score': 566.77}, {'connected_gene': 'GC01P037558', 'score': 550.77}, {'connected_gene': 'RPS27P9', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 35.97}, {'connected_gene': 'MEAF6', 'score': 13.98}, {'connected_gene': 'CDCA8', 'score': 10.08}, {'connected_gene': 'C1orf109', 'score': 10.08}, {'connected_gene': 'LINC01137', 'score': 4.47}]
chr1	GH01I037448	37448154	37450413	0.82	[{'connected_gene': 'LINC01137', 'score': 24.46}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.66}, {'connected_gene': 'SNIP1', 'score': 10.66}, {'connected_gene': 'DNALI1', 'score': 10.66}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'MEAF6', 'score': 4.47}, {'connected_gene': 'GC01M037470', 'score': 0.34}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1	GH01I037451	37451804	37453531	0.74	[{'connected_gene': 'LINC01137', 'score': 33.94}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.67}, {'connected_gene': 'SNIP1', 'score': 10.67}, {'connected_gene': 'DNALI1', 'score': 10.67}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'GC01M037470', 'score': 0.37}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1	GH01I037497	37497975	37498109	0.76	[{'connected_gene': 'LINC01137', 'score': 11.76}, {'connected_gene': 'ZC3H12A', 'score': 11.76}, {'connected_gene': 'RPS27P9', 'score': 11.04}, {'connected_gene': 'SNIP1', 'score': 11.04}, {'connected_gene': 'DNALI1', 'score': 11.04}, {'connected_gene': 'MIR5581', 'score': 0.77}, {'connected_gene': 'MEAF6', 'score': 0.37}, {'connected_gene': 'PIR46555', 'score': 0.37}]
chr1	GH01I037496	37496512	37496817	0.4	[{'connected_gene': 'LINC01137', 'score': 11.76}, {'connected_gene': 'ZC3H12A', 'score': 11.76}, {'connected_gene': 'RPS27P9', 'score': 11.04}, {'connected_gene': 'SNIP1', 'score': 11.04}, {'connected_gene': 'DNALI1', 'score': 11.03}, {'connected_gene': 'MIR5581', 'score': 0.77}, {'connected_gene': 'PIR46555', 'score': 0.39}, {'connected_gene': 'MEAF6', 'score': 0.37}]
chr1	GH01I037513	37513342	37515921	2.07	[{'connected_gene': 'MEAF6', 'score': 564.37}, {'connected_gene': 'SF3A3', 'score': 51.85}, {'connected_gene': 'GNL2', 'score': 32.01}, {'connected_gene': 'FTH1P1', 'score': 29.24}, {'connected_gene': 'DNALI1', 'score': 21.96}, {'connected_gene': 'INPP5B', 'score': 13.99}, {'connected_gene': 'SNIP1', 'score': 11.29}, {'connected_gene': 'RPS27P9', 'score': 11.27}, {'connected_gene': 'YRDC', 'score': 10.43}, {'connected_gene': 'C1orf109', 'score': 9.89}, {'connected_gene': 'LINC01137', 'score': 4.59}, {'connected_gene': 'MIR5581', 'score': 0.39}]
chr1	GH01I037688	37688686	37693558	2.11	[{'connected_gene': 'C1orf109', 'score': 581.46}, {'connected_gene': 'CDCA8', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 43.06}, {'connected_gene': 'EPHA10', 'score': 37.91}, {'connected_gene': 'GNL2', 'score': 29.67}, {'connected_gene': 'FTH1P1', 'score': 21.01}, {'connected_gene': 'RSPO1', 'score': 11.01}, {'connected_gene': 'YRDC', 'score': 10.5}, {'connected_gene': 'DNALI1', 'score': 6.4}, {'connected_gene': 'GC01P037645', 'score': 0.25}]
chr1	GH01I037594	37594334	37596796	2.04	[{'connected_gene': 'GNL2', 'score': 550.77}, {'connected_gene': 'ENSG00000284748', 'score': 550.77}, {'connected_gene': 'DNALI1', 'score': 14.31}, {'connected_gene': 'CDCA8', 'score': 11.11}, {'connected_gene': 'C1orf109', 'score': 11.11}, {'connected_gene': 'MEAF6', 'score': 9.32}, {'connected_gene': 'LINC01137', 'score': 4.37}]
chr1	GH01I037561	37561920	37562049	0.8	[{'connected_gene': 'GNL2', 'score': 11.31}, {'connected_gene': 'CDCA8', 'score': 10.08}, {'connected_gene': 'C1orf109', 'score': 10.08}, {'connected_gene': 'DNALI1', 'score': 0.44}]
chr1	GH01I037988	37988587	37990987	2.16	[{'connected_gene': 'SF3A3', 'score': 676.08}, {'connected_gene': 'RNU6-510P', 'score': 550.77}, {'connected_gene': 'GC01P037993', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 87.66}, {'connected_gene': 'FTH1P1', 'score': 48.77}, {'connected_gene': 'INPP5B', 'score': 46.42}, {'connected_gene': 'GNL2', 'score': 46.21}, {'connected_gene': 'MYCBP', 'score': 44.52}, {'connected_gene': 'FHL3', 'score': 33.56}, {'connected_gene': 'RSPO1', 'score': 28.78}, {'connected_gene': 'RRAGC', 'score': 20.04}, {'connected_gene': 'YRDC', 'score': 19.0}, {'connected_gene': 'DNALI1', 'score': 12.27}, {'connected_gene': 'MEAF6', 'score': 12.08}, {'connected_gene': 'ENSG00000277168', 'score': 0.28}]
chr1	GH01I037498	37498708	37500029	0.99	[{'connected_gene': 'MIR5581', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 17.29}, {'connected_gene': 'DNALI1', 'score': 14.64}, {'connected_gene': 'MEAF6', 'score': 14.08}, {'connected_gene': 'CDCA8', 'score': 9.88}, {'connected_gene': 'C1orf109', 'score': 9.88}, {'connected_gene': 'LINC01137', 'score': 5.3}, {'connected_gene': 'EPHA10', 'score': 5.29}, {'connected_gene': 'PIR46555', 'score': 0.37}]