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
ENST00000261349	[[12268958, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284991], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397589], [12419614, 12419746]]	[[12274059, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284991], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397589], [12419614, 12419669]]
ENST00000538239	[[12268962, 12272264], [12273303, 12273337], [12274019, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284991], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397238]]	[[12274059, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284991], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397238]]
ENST00000543091	[[12274026, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284856], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397589], [12419614, 12419703]]	[[12274059, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284856], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397589], [12419614, 12419669]]
ENST00000540527	[[12273980, 12274354], [12277498, 12277596], [12283716, 12283827], [12284754, 12284764]]	[[12277507, 12277596], [12283716, 12283827], [12284754, 12284764]]
ENST00000540415	[[12278295, 12278366], [12283716, 12283827], [12284754, 12284991], [12288108, 12288162]]	None
ENST00000545658	[[12339739, 12340053], [12356136, 12356257]]	None
ENST00000535731	[[12340021, 12340053], [12356136, 12356334], [12419614, 12419946]]	[[12340021, 12340053], [12356136, 12356330]]
NM_002336	[[12268958, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284991], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397589], [12419614, 12419811]]	[[12274059, 12274354], [12277498, 12277596], [12278229, 12278366], [12279624, 12279855], [12283716, 12283827], [12284754, 12284991], [12288108, 12288234], [12291258, 12291468], [12300299, 12300490], [12301875, 12302087], [12303769, 12303972], [12311762, 12312089], [12312713, 12312898], [12315126, 12315353], [12317206, 12317496], [12318012, 12318229], [12332743, 12332915], [12333976, 12334373], [12336913, 12337045], [12339856, 12340053], [12356136, 12356334], [12397195, 12397589], [12419614, 12419669]]

Promoter

Chrom	Start	End	Description
chr12	12397368	12397385	CAGE_peak_9_at_LRP6_5end
chr12	12397406	12397428	CAGE_peak_7_at_LRP6_5end
chr12	12397459	12397474	CAGE_peak_6_at_LRP6_5end
chr12	12419780	12419811	CAGE_peak_2_at_LRP6_5end
chr12	12419893	12419902	CAGE_peak_5_at_LRP6_5end
chr12	12419905	12419989	CAGE_peak_1_at_LRP6_5end
chr12	12420113	12420127	CAGE_peak_4_at_LRP6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I012887	12887554	12894822	2.21	[{'connected_gene': 'GPRC5A', 'score': 560.29}, {'connected_gene': 'DDX47', 'score': 23.27}, {'connected_gene': 'EMP1', 'score': 12.54}, {'connected_gene': 'LRP6', 'score': 10.0}, {'connected_gene': 'GC12P012922', 'score': 0.34}]
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	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	GH12I012834	12834128	12843038	1.36	[{'connected_gene': 'DDX47', 'score': 34.79}, {'connected_gene': 'GPRC5A', 'score': 11.8}, {'connected_gene': 'LOC100506248', 'score': 11.08}, {'connected_gene': 'MIR614', 'score': 10.9}, {'connected_gene': 'ENSG00000256011', 'score': 10.72}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.63}, {'connected_gene': 'GPRC5D', 'score': 10.51}, {'connected_gene': 'LRP6', 'score': 10.0}, {'connected_gene': 'RPL13AP20', 'score': 5.46}, {'connected_gene': 'GC12P012841', 'score': 0.77}, {'connected_gene': 'GC12P012833', 'score': 0.77}, {'connected_gene': 'RPL37AP9', 'score': 0.77}]
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	GH12I012897	12897375	12904845	1.58	[{'connected_gene': 'DDX47', 'score': 13.3}, {'connected_gene': 'LRP6', 'score': 10.0}, {'connected_gene': 'GPRC5A', 'score': 9.05}, {'connected_gene': 'GPRC5D-AS1', 'score': 6.13}, {'connected_gene': 'ENSG00000255621', 'score': 5.1}, {'connected_gene': 'GC12P012922', '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	GH12I012879	12879460	12880562	0.43	[{'connected_gene': 'DDX47', 'score': 15.56}, {'connected_gene': 'LRP6', 'score': 14.89}, {'connected_gene': 'RPL13AP20', 'score': 6.72}, {'connected_gene': 'LOC105369664', 'score': 0.77}]
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	GH12I012265	12265000	12268056	2.14	[{'connected_gene': 'LRP6', 'score': 596.24}, {'connected_gene': 'DDX47', 'score': 95.53}, {'connected_gene': 'LOC100506248', 'score': 20.25}, {'connected_gene': 'ENSG00000255670', 'score': 10.67}, {'connected_gene': 'LOH12CR2', 'score': 10.6}, {'connected_gene': 'RPL13AP20', 'score': 9.89}, {'connected_gene': 'GC12P012248', 'score': 0.37}]
chr12	GH12I012214	12214631	12217497	1.01	[{'connected_gene': 'LRP6', 'score': 14.32}, {'connected_gene': 'GC12P012227', 'score': 0.39}, {'connected_gene': 'MORF4L1P2', 'score': 0.37}]
chr12	GH12I012272	12272527	12273730	0.43	[{'connected_gene': 'LRP6', 'score': 13.13}, {'connected_gene': 'RNU6-318P', 'score': 0.37}]
chr12	GH12I012240	12240524	12242393	0.8	[{'connected_gene': 'LRP6', 'score': 13.79}, {'connected_gene': 'LOC101929053', 'score': 0.44}, {'connected_gene': 'RNU6-545P', 'score': 0.39}]
chr12	GH12I012145	12145311	12145647	0.26	[{'connected_gene': 'LRP6', 'score': 1.81}, {'connected_gene': 'RPL21P100', 'score': 0.44}, {'connected_gene': 'GC12M012116', 'score': 0.31}, {'connected_gene': 'BCL2L14', 'score': 0.15}]
chr12	GH12I012182	12182570	12183457	0.38	[{'connected_gene': 'MORF4L1P2', 'score': 0.37}, {'connected_gene': 'ENSG00000242405', 'score': 0.31}, {'connected_gene': 'LRP6', 'score': 0.18}, {'connected_gene': 'BCL2L14', 'score': 0.12}]
chr12	GH12I012181	12181735	12181816	0.31	[{'connected_gene': 'MORF4L1P2', 'score': 0.37}, {'connected_gene': 'ENSG00000242405', 'score': 0.31}, {'connected_gene': 'LRP6', 'score': 0.17}, {'connected_gene': 'BCL2L14', 'score': 0.12}]
chr12	GH12I012190	12190467	12190616	0.77	[{'connected_gene': 'MORF4L1P2', 'score': 0.39}, {'connected_gene': 'ENSG00000242405', 'score': 0.28}, {'connected_gene': 'LRP6', 'score': 0.18}, {'connected_gene': 'BCL2L14', 'score': 0.11}]
chr12	GH12I012201	12201291	12202016	0.66	[{'connected_gene': 'MORF4L1P2', 'score': 550.77}, {'connected_gene': 'RNU6-545P', 'score': 12.13}, {'connected_gene': 'GC12P012227', 'score': 0.31}, {'connected_gene': 'LRP6', 'score': 0.2}, {'connected_gene': 'BCL2L14', 'score': 0.1}]
chr12	GH12I012784	12784163	12789605	1.89	[{'connected_gene': 'GC12P012788', 'score': 550.77}, {'connected_gene': 'PIR39111', 'score': 550.77}, {'connected_gene': 'PIR45503', 'score': 550.77}, {'connected_gene': 'APOLD1', 'score': 550.21}, {'connected_gene': 'LRP6', 'score': 15.14}, {'connected_gene': 'DDX47', 'score': 5.16}, {'connected_gene': 'GC12P012790', 'score': 0.77}, {'connected_gene': 'PIR32020', 'score': 0.77}]
chr12	GH12I012360	12360787	12362036	0.38	[{'connected_gene': 'PIR62067', 'score': 550.77}, {'connected_gene': 'LRP6', 'score': 8.2}, {'connected_gene': 'LOH12CR2', 'score': 6.78}, {'connected_gene': 'GC12P012364', 'score': 0.77}, {'connected_gene': 'BORCS5', 'score': 0.77}]
chr12	GH12I012172	12172307	12172336	0.76	[{'connected_gene': 'ENSG00000242405', 'score': 0.37}, {'connected_gene': 'MORF4L1P2', 'score': 0.31}, {'connected_gene': 'LRP6', 'score': 0.16}, {'connected_gene': 'BCL2L14', 'score': 0.13}]
chr12	GH12I012159	12159760	12160658	0.38	[{'connected_gene': 'ENSG00000242405', 'score': 0.77}, {'connected_gene': 'MORF4L1P2', 'score': 0.26}, {'connected_gene': 'LRP6', 'score': 0.14}, {'connected_gene': 'BCL2L14', 'score': 0.14}]