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
ENST00000535902	[[12482197, 12483892], [12491353, 12491494], [12496025, 12496348], [12503011, 12503475]]	[[12482960, 12483892], [12491353, 12491494], [12496025, 12496248]]
ENST00000396349	[[12482198, 12483892], [12491353, 12491494], [12496025, 12496107], [12496209, 12496348], [12503011, 12503175]]	[[12482960, 12483892], [12491353, 12491494], [12496025, 12496107], [12496209, 12496248]]
ENST00000545735	[[12482646, 12483892], [12491353, 12491608]]	[[12482960, 12483892], [12491353, 12491474]]
ENST00000543314	[[12496076, 12496348], [12501112, 12501182], [12503011, 12503165]]	[[12496076, 12496248]]
NM_018050	[[12482217, 12483892], [12491353, 12491494], [12496025, 12496348], [12503011, 12503169]]	[[12482960, 12483892], [12491353, 12491494], [12496025, 12496248]]

Promoter

Chrom	Start	End	Description
chr12	12491456	12491468	CAGE_peak_10_at_MANSC1_5end
chr12	12491480	12491496	CAGE_peak_3_at_MANSC1_5end
chr12	12491541	12491552	CAGE_peak_11_at_MANSC1_5end
chr12	12491570	12491587	CAGE_peak_4_at_MANSC1_5end
chr12	12491611	12491640	CAGE_peak_8_at_MANSC1_5end
chr12	12492047	12492055	CAGE_peak_19_at_MANSC1_5end
chr12	12503128	12503141	CAGE_peak_2_at_MANSC1_5end
chr12	12503145	12503150	CAGE_peak_7_at_MANSC1_5end
chr12	12503156	12503216	CAGE_peak_1_at_MANSC1_5end
chr12	12503256	12503268	CAGE_peak_6_at_MANSC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I012713	12713282	12727320	2.63	[{'connected_gene': 'APOLD1', 'score': 566.86}, {'connected_gene': 'CDKN1B', 'score': 556.44}, {'connected_gene': 'ENSG00000275560', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 35.03}, {'connected_gene': 'GPR19', 'score': 10.86}, {'connected_gene': 'RPL13AP20', 'score': 9.96}, {'connected_gene': 'MANSC1', 'score': 3.06}, {'connected_gene': 'BORCS5', 'score': 2.68}, {'connected_gene': 'DUSP16', 'score': 1.44}, {'connected_gene': 'LOC105369663', 'score': 0.77}, {'connected_gene': 'GC12P012719', 'score': 0.77}, {'connected_gene': 'PIR57575', 'score': 0.77}, {'connected_gene': 'GC12M012725', 'score': 0.44}]
chr12	GH12I012502	12502802	12507800	1.28	[{'connected_gene': 'DUSP16', 'score': 10.98}, {'connected_gene': 'ENSG00000240424', 'score': 10.96}, {'connected_gene': 'CREBL2', 'score': 10.96}, {'connected_gene': 'MANSC1', 'score': 9.94}, {'connected_gene': 'PIR41199', 'score': 0.37}]
chr12	GH12I012498	12498643	12501828	0.6	[{'connected_gene': 'DUSP16', 'score': 11.36}, {'connected_gene': 'ENSG00000240424', 'score': 11.35}, {'connected_gene': 'CREBL2', 'score': 10.76}, {'connected_gene': 'CDKN1B', 'score': 10.19}, {'connected_gene': 'MANSC1', 'score': 9.95}, {'connected_gene': 'PIR41199', 'score': 0.39}]
chr12	GH12I012383	12383762	12385861	1.26	[{'connected_gene': 'MANSC1', 'score': 11.81}, {'connected_gene': 'DUSP16', 'score': 11.56}, {'connected_gene': 'ENSG00000240424', 'score': 11.55}, {'connected_gene': 'GPR19', 'score': 11.15}, {'connected_gene': 'CDKN1B', 'score': 10.98}, {'connected_gene': 'BORCS5', 'score': 5.0}, {'connected_gene': 'GC12M012376', 'score': 0.77}, {'connected_gene': 'GC12M012364', 'score': 0.39}, {'connected_gene': 'GC12P012364', 'score': 0.37}]
chr12	GH12I012376	12376601	12377001	1.16	[{'connected_gene': 'MANSC1', 'score': 11.42}, {'connected_gene': 'DUSP16', 'score': 11.39}, {'connected_gene': 'ENSG00000240424', 'score': 11.39}, {'connected_gene': 'CDKN1B', 'score': 11.12}, {'connected_gene': 'GPR19', 'score': 11.06}, {'connected_gene': 'APOLD1', 'score': 10.56}, {'connected_gene': 'LOC105369663', 'score': 10.56}, {'connected_gene': 'GC12M012376', 'score': 0.77}, {'connected_gene': 'GC12P012364', 'score': 0.39}, {'connected_gene': 'GC12M012364', 'score': 0.37}, {'connected_gene': 'BORCS5', 'score': 0.37}]
chr12	GH12I012349	12349069	12352002	2.26	[{'connected_gene': 'MANSC1', 'score': 565.66}, {'connected_gene': 'DDX47', 'score': 33.84}, {'connected_gene': 'LOH12CR2', 'score': 6.65}, {'connected_gene': 'BCL2L14', 'score': 1.28}, {'connected_gene': 'GC12P012340', 'score': 0.44}]
chr12	GH12I012283	12283051	12284721	0.64	[{'connected_gene': 'MANSC1', 'score': 10.34}, {'connected_gene': 'LRP6', 'score': 5.77}, {'connected_gene': 'RNU6-318P', 'score': 0.44}]
chr12	GH12I012319	12319535	12321171	1.06	[{'connected_gene': 'MANSC1', 'score': 10.99}, {'connected_gene': 'LRP6', 'score': 10.63}, {'connected_gene': 'GC12M012310', 'score': 0.44}, {'connected_gene': 'RPL23AP66', 'score': 0.37}]
chr12	GH12I012372	12372933	12373982	0.54	[{'connected_gene': 'MANSC1', 'score': 11.36}, {'connected_gene': 'GPR19', 'score': 11.06}, {'connected_gene': 'DUSP16', 'score': 10.81}, {'connected_gene': 'ENSG00000240424', 'score': 10.8}, {'connected_gene': 'CDKN1B', 'score': 10.73}, {'connected_gene': 'APOLD1', 'score': 10.57}, {'connected_gene': 'LOC105369663', 'score': 10.57}, {'connected_gene': 'GC12M012376', 'score': 0.44}, {'connected_gene': 'GC12P012364', 'score': 0.44}, {'connected_gene': 'BORCS5', 'score': 0.37}, {'connected_gene': 'GC12M012364', 'score': 0.34}]
chr12	GH12I012396	12396903	12400841	1.4	[{'connected_gene': 'DDX47', 'score': 23.95}, {'connected_gene': 'HTR7P1', 'score': 11.23}, {'connected_gene': 'LRP6', 'score': 11.21}, {'connected_gene': 'CREBL2', 'score': 11.13}, {'connected_gene': 'GPR19', 'score': 11.03}, {'connected_gene': 'ENSG00000240424', 'score': 10.8}, {'connected_gene': 'DUSP16', 'score': 10.8}, {'connected_gene': 'LOC100506248', 'score': 10.44}, {'connected_gene': 'MANSC1', 'score': 10.42}, {'connected_gene': 'CDKN1B', 'score': 10.17}, {'connected_gene': 'BORCS5', 'score': 7.83}, {'connected_gene': 'GPRC5D-AS1', 'score': 4.3}, {'connected_gene': 'GC12M012364', 'score': 0.77}, {'connected_gene': 'GC12P012409', 'score': 0.39}]
chr12	GH12I012332	12332944	12335002	1.03	[{'connected_gene': 'DDX47', 'score': 15.94}, {'connected_gene': 'LRP6', 'score': 11.7}, {'connected_gene': 'MANSC1', 'score': 6.98}, {'connected_gene': 'RPL23AP66', 'score': 0.77}, {'connected_gene': 'GC12M012310', 'score': 0.34}]
chr12	GH12I012327	12327393	12328556	0.96	[{'connected_gene': 'LOH12CR2', 'score': 12.03}, {'connected_gene': 'BORCS5', 'score': 12.03}, {'connected_gene': 'MANSC1', 'score': 11.71}, {'connected_gene': 'CDKN1B', 'score': 9.22}, {'connected_gene': 'LRP6', 'score': 8.91}, {'connected_gene': 'RPL23AP66', 'score': 0.39}, {'connected_gene': 'GC12M012310', 'score': 0.37}]
chr12	GH12I012356	12356323	12359223	2.27	[{'connected_gene': 'LOH12CR2', 'score': 558.98}, {'connected_gene': 'BORCS5', 'score': 555.78}, {'connected_gene': 'LRP6', 'score': 15.19}, {'connected_gene': 'LOC100506248', 'score': 11.56}, {'connected_gene': 'DDX47', 'score': 10.56}, {'connected_gene': 'MANSC1', 'score': 8.74}, {'connected_gene': 'PIR62067', 'score': 0.77}, {'connected_gene': 'GC12P012340', 'score': 0.37}]
chr12	GH12I012331	12331273	12332856	0.52	[{'connected_gene': 'LOH12CR2', 'score': 11.8}, {'connected_gene': 'BORCS5', 'score': 11.8}, {'connected_gene': 'CDKN1B', 'score': 9.9}, {'connected_gene': 'RPL23AP66', 'score': 0.44}, {'connected_gene': 'GC12M012310', 'score': 0.37}, {'connected_gene': 'MANSC1', 'score': 0.37}]
chr12	GH12I012337	12337001	12339214	0.58	[{'connected_gene': 'RPL23AP66', 'score': 550.77}, {'connected_gene': 'MANSC1', 'score': 6.56}, {'connected_gene': 'BORCS5', 'score': 5.37}, {'connected_gene': 'GC12M012310', 'score': 0.31}]
chr12	GH12I012335	12335401	12335801	0.2	[{'connected_gene': 'RPL23AP66', 'score': 0.77}, {'connected_gene': 'MANSC1', 'score': 0.39}, {'connected_gene': 'GC12M012310', 'score': 0.34}]
chr12	GH12I012546	12546507	12546656	1.12	[{'connected_gene': 'ENSG00000240424', 'score': 12.05}, {'connected_gene': 'GPR19', 'score': 10.57}, {'connected_gene': 'CREBL2', 'score': 10.37}, {'connected_gene': 'MANSC1', 'score': 10.33}, {'connected_gene': 'DUSP16', 'score': 0.37}, {'connected_gene': 'PIR41199', 'score': 0.22}]
chr12	GH12I012655	12655601	12656400	1.05	[{'connected_gene': 'GC12P012657', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 11.66}, {'connected_gene': 'CREBL2', 'score': 11.61}, {'connected_gene': 'CDKN1B', 'score': 11.38}, {'connected_gene': 'ENSG00000240424', 'score': 10.68}, {'connected_gene': 'DUSP16', 'score': 10.67}, {'connected_gene': 'MANSC1', 'score': 10.25}, {'connected_gene': 'ENSG00000275963', 'score': 0.44}]
chr12	GH12I012683	12683987	12686148	1.7	[{'connected_gene': 'GC12P012687', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 550.29}, {'connected_gene': 'CDKN1B', 'score': 11.38}, {'connected_gene': 'ENSG00000240424', 'score': 11.29}, {'connected_gene': 'DUSP16', 'score': 11.29}, {'connected_gene': 'MANSC1', 'score': 10.12}, {'connected_gene': 'APOLD1', 'score': 5.52}, {'connected_gene': 'FAM234B', 'score': 4.28}, {'connected_gene': 'GSG1', 'score': 3.04}, {'connected_gene': 'ENSG00000257004', 'score': 0.37}]
chr12	GH12I012547	12547465	12548220	0.52	[{'connected_gene': 'ENSG00000240424', 'score': 12.05}, {'connected_gene': 'CREBL2', 'score': 10.63}, {'connected_gene': 'GPR19', 'score': 10.57}, {'connected_gene': 'MANSC1', 'score': 10.33}, {'connected_gene': 'DUSP16', 'score': 0.39}, {'connected_gene': 'PIR41199', 'score': 0.22}]
chr12	GH12I012379	12379201	12381887	1.53	[{'connected_gene': 'GC12M012376', 'score': 550.77}, {'connected_gene': 'CDKN1B', 'score': 20.07}, {'connected_gene': 'DUSP16', 'score': 19.6}, {'connected_gene': 'MANSC1', 'score': 11.81}, {'connected_gene': 'ENSG00000240424', 'score': 11.43}, {'connected_gene': 'BORCS5', 'score': 8.54}, {'connected_gene': 'APOLD1', 'score': 1.98}, {'connected_gene': 'BCL2L14', 'score': 1.53}, {'connected_gene': 'GC12M012364', 'score': 0.37}, {'connected_gene': 'GC12P012364', 'score': 0.37}]