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
ENST00000477087	[[12867991, 12868038], [12868710, 12868817], [12871758, 12871888], [12873969, 12874138]]	None
ENST00000228872	[[12870057, 12871248], [12871758, 12871888], [12873969, 12875305]]	[[12870773, 12871248], [12871758, 12871880]]
ENST00000396340	[[12870755, 12871248], [12873998, 12874402]]	[[12870773, 12871248], [12873998, 12874141]]
ENST00000442489	[[12870794, 12870987], [12871758, 12871888], [12873969, 12874223]]	[[12870794, 12870987], [12871758, 12871880]]
NM_004064	[[12870203, 12871248], [12871758, 12871888], [12873969, 12875317]]	[[12870773, 12871248], [12871758, 12871880]]

Promoter

Chrom	Start	End	Description
chr12	12869816	12869824	CAGE_peak_11_at_CDKN1B_5end
chr12	12869857	12869890	CAGE_peak_5_at_CDKN1B_5end
chr12	12870055	12870119	CAGE_peak_4_at_CDKN1B_5end
chr12	12870123	12870135	CAGE_peak_6_at_CDKN1B_5end
chr12	12870294	12870324	CAGE_peak_1_at_CDKN1B_5end
chr12	12870365	12870384	CAGE_peak_3_at_CDKN1B_5end
chr12	12870398	12870419	CAGE_peak_2_at_CDKN1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I013096	13096463	13103713	2.58	[{'connected_gene': 'GSG1', 'score': 558.17}, {'connected_gene': 'LOC105369666', 'score': 550.77}, {'connected_gene': 'GC12P013100', 'score': 550.77}, {'connected_gene': 'HTR7P1', 'score': 5.05}, {'connected_gene': 'EMP1', 'score': 4.84}, {'connected_gene': 'CDKN1B', 'score': 3.9}, {'connected_gene': 'LOC105369665', 'score': 0.77}, {'connected_gene': 'PIR34161', 'score': 0.29}, {'connected_gene': 'FAM234B', 'score': 0.22}]
chr12	GH12I012711	12711881	12713185	0.31	[{'connected_gene': 'APOLD1', 'score': 12.65}, {'connected_gene': 'GPR19', 'score': 0.77}, {'connected_gene': 'CDKN1B', 'score': 0.77}, {'connected_gene': 'GC12P012702', 'score': 0.44}]
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	GH12I012705	12705687	12706596	0.43	[{'connected_gene': 'APOLD1', 'score': 12.5}, {'connected_gene': 'GC12P012702', 'score': 0.77}, {'connected_gene': 'CDKN1B', 'score': 0.44}, {'connected_gene': 'GPR19', 'score': 0.39}]
chr12	GH12I012557	12557614	12564615	2.67	[{'connected_gene': 'DUSP16', 'score': 553.76}, {'connected_gene': 'CREBL2', 'score': 11.43}, {'connected_gene': 'GPR19', 'score': 10.5}, {'connected_gene': 'CDKN1B', 'score': 9.72}, {'connected_gene': 'ENSG00000255670', 'score': 4.89}, {'connected_gene': 'BCL2L14', 'score': 1.59}, {'connected_gene': 'GC12M012561', 'score': 0.25}, {'connected_gene': 'PIR41199', 'score': 0.19}]
chr12	GH12I012493	12493971	12494033	0.44	[{'connected_gene': 'DUSP16', 'score': 13.55}, {'connected_gene': 'ENSG00000240424', 'score': 11.19}, {'connected_gene': 'CREBL2', 'score': 10.68}, {'connected_gene': 'BORCS5', 'score': 2.74}, {'connected_gene': 'CDKN1B', 'score': 1.75}, {'connected_gene': 'PIR41199', 'score': 0.77}, {'connected_gene': 'GC12P012465', 'score': 0.31}]
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	GH12I012495	12495413	12497376	0.49	[{'connected_gene': 'DUSP16', 'score': 11.35}, {'connected_gene': 'ENSG00000240424', 'score': 11.34}, {'connected_gene': 'CREBL2', 'score': 10.68}, {'connected_gene': 'CDKN1B', 'score': 10.2}, {'connected_gene': 'PIR41199', 'score': 0.44}, {'connected_gene': 'GC12P012465', 'score': 0.29}]
chr12	GH12I012513	12513195	12514524	0.74	[{'connected_gene': 'DUSP16', 'score': 11.57}, {'connected_gene': 'ENSG00000240424', 'score': 11.55}, {'connected_gene': 'CDKN1B', 'score': 10.28}, {'connected_gene': 'PIR41199', 'score': 0.34}]
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	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	GH12I012580	12580930	12588518	1.37	[{'connected_gene': 'DDX47', 'score': 89.98}, {'connected_gene': 'DUSP16', 'score': 12.79}, {'connected_gene': 'LRP6', 'score': 11.16}, {'connected_gene': 'GPR19', 'score': 10.39}, {'connected_gene': 'CDKN1B', 'score': 10.34}, {'connected_gene': 'RPL19P17', 'score': 0.37}, {'connected_gene': 'GC12M012561', 'score': 0.34}]
chr12	GH12I012598	12598845	12601679	0.94	[{'connected_gene': 'DDX47', 'score': 18.22}, {'connected_gene': 'ENSG00000240424', 'score': 11.73}, {'connected_gene': 'DUSP16', 'score': 11.71}, {'connected_gene': 'GPR19', 'score': 10.75}, {'connected_gene': 'CDKN1B', 'score': 10.24}, {'connected_gene': 'CREBL2', 'score': 5.84}, {'connected_gene': 'GC12M012561', 'score': 0.44}, {'connected_gene': 'RPL19P17', 'score': 0.29}]
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	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	GH12I012665	12665128	12665547	0.31	[{'connected_gene': 'GPR19', 'score': 11.7}, {'connected_gene': 'CREBL2', 'score': 11.6}, {'connected_gene': 'CDKN1B', 'score': 10.58}, {'connected_gene': 'ENSG00000257004', 'score': 0.77}, {'connected_gene': 'GC12P012657', 'score': 0.44}]
chr12	GH12I012439	12439026	12444930	1.61	[{'connected_gene': 'BORCS5', 'score': 19.32}, {'connected_gene': 'DUSP16', 'score': 18.19}, {'connected_gene': 'DDX47', 'score': 11.97}, {'connected_gene': 'ENSG00000240424', 'score': 10.74}, {'connected_gene': 'CDKN1B', 'score': 10.73}, {'connected_gene': 'CREBL2', 'score': 10.73}, {'connected_gene': 'APOLD1', 'score': 3.12}, {'connected_gene': 'BCL2L14', 'score': 1.92}, {'connected_gene': 'GPR19', 'score': 1.66}, {'connected_gene': 'GC12P012450', 'score': 0.44}, {'connected_gene': 'GC12P012411', 'score': 0.29}]
chr12	GH12I012733	12733121	12738010	1.49	[{'connected_gene': 'CDKN1B', 'score': 21.05}, {'connected_gene': 'APOLD1', 'score': 17.01}, {'connected_gene': 'DDX47', 'score': 10.18}, {'connected_gene': 'BORCS5', 'score': 8.63}, {'connected_gene': 'DUSP16', 'score': 2.11}, {'connected_gene': 'GPR19', 'score': 1.75}, {'connected_gene': 'GC12M012732', 'score': 0.77}, {'connected_gene': 'GC12M012733', 'score': 0.44}]
chr12	GH12I012086	12086271	12088163	0.62	[{'connected_gene': 'CDKN1B', 'score': 9.61}, {'connected_gene': 'GC12M012104', 'score': 0.37}, {'connected_gene': 'BCL2L14', 'score': 0.28}]
chr12	GH12I012392	12392454	12393161	1.08	[{'connected_gene': 'CDKN1B', 'score': 13.91}, {'connected_gene': 'GPR19', 'score': 11.03}, {'connected_gene': 'CREBL2', 'score': 10.66}, {'connected_gene': 'BORCS5', 'score': 3.5}, {'connected_gene': 'DUSP16', 'score': 1.9}, {'connected_gene': 'APOLD1', 'score': 1.34}, {'connected_gene': 'GC12M012364', 'score': 0.77}, {'connected_gene': 'GC12M012376', 'score': 0.39}]
chr12	GH12I012402	12402114	12407437	1.66	[{'connected_gene': 'CDKN1B', 'score': 14.04}, {'connected_gene': 'CREBL2', 'score': 11.13}, {'connected_gene': 'DUSP16', 'score': 11.03}, {'connected_gene': 'ENSG00000240424', 'score': 11.02}, {'connected_gene': 'GPR19', 'score': 10.92}, {'connected_gene': 'BORCS5', 'score': 5.56}, {'connected_gene': 'GPRC5D-AS1', 'score': 4.81}, {'connected_gene': 'GC12M012364', 'score': 0.44}, {'connected_gene': 'GC12P012409', 'score': 0.44}]
chr12	GH12I012744	12744458	12745246	0.38	[{'connected_gene': 'CDKN1B', 'score': 11.24}, {'connected_gene': 'LOC105369663', 'score': 11.15}, {'connected_gene': 'CREBL2', 'score': 10.49}, {'connected_gene': 'GC12M012733', 'score': 0.77}, {'connected_gene': 'GC12P012765', 'score': 0.37}, {'connected_gene': 'APOLD1', 'score': 0.37}]
chr12	GH12I012604	12604212	12609214	1.26	[{'connected_gene': 'GC12M012561', 'score': 550.77}, {'connected_gene': 'ENSG00000240424', 'score': 11.59}, {'connected_gene': 'DUSP16', 'score': 11.58}, {'connected_gene': 'GPR19', 'score': 10.84}, {'connected_gene': 'CDKN1B', 'score': 10.01}, {'connected_gene': 'CREBL2', 'score': 6.38}, {'connected_gene': 'RPL19P17', 'score': 0.28}]
chr12	GH12I012408	12408168	12409028	0.43	[{'connected_gene': 'GC12P012409', 'score': 550.77}, {'connected_gene': 'GC12P012411', 'score': 550.77}, {'connected_gene': 'DUSP16', 'score': 11.03}, {'connected_gene': 'ENSG00000240424', 'score': 11.02}, {'connected_gene': 'CDKN1B', 'score': 10.51}, {'connected_gene': 'GPRC5D-AS1', 'score': 4.3}, {'connected_gene': 'GC12M012364', 'score': 0.39}, {'connected_gene': 'BORCS5', 'score': 0.23}]
chr12	GH12I012774	12774514	12777510	0.77	[{'connected_gene': 'GC12M012777', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 11.72}, {'connected_gene': 'LOC105369663', 'score': 10.53}, {'connected_gene': 'APOLD1', 'score': 10.53}, {'connected_gene': 'CDKN1B', 'score': 10.17}, {'connected_gene': 'MIR614', 'score': 10.04}, {'connected_gene': 'GPRC5D', 'score': 8.99}, {'connected_gene': 'BORCS5', 'score': 5.97}, {'connected_gene': 'STX8P1', 'score': 0.77}]
chr12	GH12I012706	12704047	12704196	0.85	[{'connected_gene': 'GC12P012702', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 11.82}, {'connected_gene': 'LOC100506248', 'score': 11.08}, {'connected_gene': 'GPR19', 'score': 0.39}, {'connected_gene': 'CDKN1B', 'score': 0.39}]
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	GH12I012395	12395235	12396506	0.31	[{'connected_gene': 'GC12M012364', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 11.03}, {'connected_gene': 'CREBL2', 'score': 10.66}, {'connected_gene': 'CDKN1B', 'score': 10.17}, {'connected_gene': 'GC12M012376', 'score': 0.39}, {'connected_gene': 'BORCS5', 'score': 0.28}]
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	GH12I012703	12703492	12703925	0.43	[{'connected_gene': 'GC12P012702', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 8.86}, {'connected_gene': 'CDKN1B', 'score': 0.39}]
chr12	GH12I012704	12704600	12705001	1.34	[{'connected_gene': 'GC12P012702', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 0.39}, {'connected_gene': 'CDKN1B', 'score': 0.39}]
chr12	GH12I012622	12622105	12623148	0.44	[{'connected_gene': 'GC12P012621', 'score': 550.77}, {'connected_gene': 'CDKN1B', 'score': 8.12}, {'connected_gene': 'APOLD1', 'score': 3.1}, {'connected_gene': 'BORCS5', 'score': 2.72}, {'connected_gene': 'DUSP16', 'score': 2.35}, {'connected_gene': 'CREBL2', 'score': 0.39}, {'connected_gene': 'ENSG00000275963', 'score': 0.31}]
chr12	GH12I012741	12741402	12742000	0.63	[{'connected_gene': 'GC12M012733', 'score': 550.77}, {'connected_gene': 'CDKN1B', 'score': 11.63}, {'connected_gene': 'APOLD1', 'score': 0.37}, {'connected_gene': 'GC12P012765', 'score': 0.34}]
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}]
chr12	GH12I012366	12366001	12366200	0.92	[{'connected_gene': 'GC12P012364', 'score': 550.77}, {'connected_gene': 'CDKN1B', 'score': 10.85}, {'connected_gene': 'BORCS5', 'score': 0.44}, {'connected_gene': 'GC12M012376', 'score': 0.37}, {'connected_gene': 'GC12M012364', 'score': 0.31}]