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
ENST00000332408	[[49115931, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49176444, 49176564], [49182944, 49183008], [49217075, 49217146], [49254627, 49255641]]	[[49118167, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49176444, 49176564], [49182944, 49183008], [49217075, 49217146], [49254627, 49255212]]
ENST00000396535	[[49117363, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49168744, 49169686]]	[[49118167, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49168744, 49168855]]
ENST00000537958	[[49117975, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49169764, 49169833], [49170118, 49170251]]	[[49118167, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164321]]
ENST00000557797	[[49127042, 49127219], [49135605, 49135785], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49169764, 49169826]]	[[49135734, 49135785], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164321]]
ENST00000558220	[[49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49169764, 49170247]]	[[49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164321]]
ENST00000559289	[[49164209, 49164339], [49168744, 49169478]]	None
NM_203349	[[49115933, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49176444, 49176564], [49182944, 49183008], [49217075, 49217146], [49254627, 49255641]]	[[49118167, 49118323], [49126965, 49127219], [49135605, 49135785], [49143384, 49143445], [49148149, 49148321], [49149888, 49150012], [49160014, 49160066], [49164285, 49164339], [49176444, 49176564], [49182944, 49183008], [49217075, 49217146], [49254627, 49255212]]

Promoter

Chrom	Start	End	Description
chr15	49170195	49170218	CAGE_peak_2_at_SHC4_5end
chr15	49170219	49170261	CAGE_peak_1_at_SHC4_5end
chr15	49255180	49255197	CAGE_peak_15_at_SHC4_5end
chr15	49255230	49255248	CAGE_peak_16_at_SHC4_5end
chr15	49255330	49255353	CAGE_peak_3_at_SHC4_5end
chr15	49255569	49255578	CAGE_peak_20_at_SHC4_5end
chr15	49255632	49255650	CAGE_peak_5_at_SHC4_5end
chr15	49256070	49256084	CAGE_peak_9_at_SHC4_5end
chr15	49256110	49256122	CAGE_peak_11_at_SHC4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I049044	49044400	49047226	2.11	[{'connected_gene': 'SECISBP2L', 'score': 555.78}, {'connected_gene': 'DTWD1', 'score': 14.82}, {'connected_gene': 'CEP152', 'score': 12.14}, {'connected_gene': 'DUT', 'score': 10.71}, {'connected_gene': 'SHC4', 'score': 10.46}, {'connected_gene': 'ENSG00000259488', 'score': 10.39}, {'connected_gene': 'RN7SL577P', 'score': 0.77}]
chr15	GH15I049082	49082544	49084607	0.43	[{'connected_gene': 'SECISBP2L', 'score': 15.59}, {'connected_gene': 'SHC4', 'score': 15.37}, {'connected_gene': 'GC15P049080', 'score': 0.77}, {'connected_gene': 'ENSG00000259656', 'score': 0.37}]
chr15	GH15I049065	49065860	49067376	0.52	[{'connected_gene': 'SECISBP2L', 'score': 16.92}, {'connected_gene': 'SHC4', 'score': 9.54}, {'connected_gene': 'GC15P049080', 'score': 0.39}]
chr15	GH15I048984	48984097	48985570	0.58	[{'connected_gene': 'SHC4', 'score': 18.8}, {'connected_gene': 'SECISBP2L', 'score': 11.3}, {'connected_gene': 'FAM227B', 'score': 5.39}, {'connected_gene': 'GC15P048991', 'score': 0.44}, {'connected_gene': 'KRT8P24', 'score': 0.39}]
chr15	GH15I048939	48939095	48941656	0.85	[{'connected_gene': 'SHC4', 'score': 12.32}, {'connected_gene': 'SECISBP2L', 'score': 10.14}, {'connected_gene': 'ENSG00000259602', 'score': 0.77}, {'connected_gene': 'GC15P048919', 'score': 0.34}]
chr15	GH15I049063	49063394	49064513	0.86	[{'connected_gene': 'SHC4', 'score': 9.54}, {'connected_gene': 'SECISBP2L', 'score': 5.68}, {'connected_gene': 'GC15P049080', 'score': 0.37}]
chr15	GH15I049060	49060089	49061517	0.74	[{'connected_gene': 'SHC4', 'score': 9.99}, {'connected_gene': 'SECISBP2L', 'score': 4.49}, {'connected_gene': 'GC15P049080', 'score': 0.37}]
chr15	GH15I049075	49075341	49077141	0.2	[{'connected_gene': 'SHC4', 'score': 11.25}, {'connected_gene': 'GC15P049080', 'score': 0.77}, {'connected_gene': 'SECISBP2L', 'score': 0.31}]
chr15	GH15I048966	48966104	48967038	0.68	[{'connected_gene': 'SHC4', 'score': 0.77}, {'connected_gene': 'KRT8P24', 'score': 0.44}]
chr15	GH15I048856	48856805	48857713	0.38	[{'connected_gene': 'SHC4', 'score': 11.46}, {'connected_gene': 'EID1', 'score': 0.34}, {'connected_gene': 'CEP152', 'score': 0.25}]
chr15	GH15I048861	48861944	48862133	0.65	[{'connected_gene': 'SHC4', 'score': 11.87}, {'connected_gene': 'EID1', 'score': 0.37}, {'connected_gene': 'CEP152', 'score': 0.23}]
chr15	GH15I048858	48858207	48859133	0.82	[{'connected_gene': 'SHC4', 'score': 11.46}, {'connected_gene': 'EID1', 'score': 0.37}, {'connected_gene': 'CEP152', 'score': 0.25}]
chr15	GH15I048869	48869615	48870430	0.2	[{'connected_gene': 'SHC4', 'score': 11.41}, {'connected_gene': 'EID1', 'score': 0.44}, {'connected_gene': 'CEP152', 'score': 0.22}]
chr15	GH15I049036	49036984	49037133	0.57	[{'connected_gene': 'SHC4', 'score': 9.92}, {'connected_gene': 'CEP152', 'score': 9.23}, {'connected_gene': 'SECISBP2L', 'score': 0.44}, {'connected_gene': 'RN7SL577P', 'score': 0.44}, {'connected_gene': 'GC15P049001', 'score': 0.28}]
chr15	GH15I048896	48896515	48898701	1.11	[{'connected_gene': 'SHC4', 'score': 11.27}, {'connected_gene': 'CEP152', 'score': 4.49}, {'connected_gene': 'SECISBP2L', 'score': 4.42}, {'connected_gene': 'GC15P048891', 'score': 0.44}, {'connected_gene': 'GC15P048919', 'score': 0.34}]
chr15	GH15I048872	48871664	48871813	0.49	[{'connected_gene': 'SHC4', 'score': 10.85}, {'connected_gene': 'CEP152', 'score': 9.82}, {'connected_gene': 'EID1', 'score': 0.44}]
chr15	GH15I048871	48871168	48871639	0.49	[{'connected_gene': 'SHC4', 'score': 10.75}, {'connected_gene': 'CEP152', 'score': 9.82}, {'connected_gene': 'EID1', 'score': 0.44}]
chr15	GH15I048864	48864942	48869148	0.94	[{'connected_gene': 'SHC4', 'score': 11.4}, {'connected_gene': 'CEP152', 'score': 6.01}, {'connected_gene': 'EID1', 'score': 0.39}]
chr15	GH15I049035	49035884	49036093	0.74	[{'connected_gene': 'SHC4', 'score': 16.62}, {'connected_gene': 'CEP152', 'score': 9.23}, {'connected_gene': 'RN7SL577P', 'score': 0.44}, {'connected_gene': 'SECISBP2L', 'score': 0.39}, {'connected_gene': 'GC15P049001', 'score': 0.29}]
chr15	GH15I048888	48888609	48889687	0.46	[{'connected_gene': 'SHC4', 'score': 11.76}, {'connected_gene': 'CEP152', 'score': 4.49}, {'connected_gene': 'GC15P048891', 'score': 0.77}, {'connected_gene': 'GC15M048879', 'score': 0.44}]
chr15	GH15I048823	48823004	48824094	0.2	[{'connected_gene': 'SHC4', 'score': 9.97}, {'connected_gene': 'FBN1', 'score': 9.65}, {'connected_gene': 'CEP152', 'score': 5.92}, {'connected_gene': 'EID1', 'score': 0.23}]
chr15	GH15I048962	48962454	48964536	1.84	[{'connected_gene': 'SHC4', 'score': 550.77}, {'connected_gene': 'FAM227B', 'score': 5.78}, {'connected_gene': 'KRT8P24', 'score': 0.44}]
chr15	GH15I048925	48925531	48926470	1.24	[{'connected_gene': 'SHC4', 'score': 29.72}, {'connected_gene': 'DUT', 'score': 12.44}, {'connected_gene': 'ENSG00000259656', 'score': 10.66}, {'connected_gene': 'GC15P048919', 'score': 0.44}, {'connected_gene': 'ENSG00000259602', 'score': 0.39}]
chr15	GH15I049089	49089164	49089313	0.2	[{'connected_gene': 'SHC4', 'score': 10.46}, {'connected_gene': 'GC15P049080', 'score': 0.44}, {'connected_gene': 'ENSG00000259656', 'score': 0.39}]
chr15	GH15I048954	48954624	48954773	0.38	[{'connected_gene': 'SHC4', 'score': 0.44}, {'connected_gene': 'ENSG00000259602', 'score': 0.37}]
chr15	GH15I048878	48877303	48879401	2.01	[{'connected_gene': 'EID1', 'score': 550.77}, {'connected_gene': 'SHC4', 'score': 10.9}, {'connected_gene': 'CEP152', 'score': 10.72}, {'connected_gene': 'GC15M048879', 'score': 0.77}]
chr15	GH15I048877	48877078	48877173	0.31	[{'connected_gene': 'EID1', 'score': 550.77}, {'connected_gene': 'CEP152', 'score': 0.2}, {'connected_gene': 'SHC4', 'score': 0.17}]
chr15	GH15I048833	48833351	48834293	0.46	[{'connected_gene': 'CEP152', 'score': 16.82}, {'connected_gene': 'SHC4', 'score': 10.22}, {'connected_gene': 'EID1', 'score': 0.26}]
chr15	GH15I048855	48855441	48856593	0.95	[{'connected_gene': 'DUT', 'score': 18.68}, {'connected_gene': 'ENSG00000259488', 'score': 13.83}, {'connected_gene': 'SHC4', 'score': 11.46}, {'connected_gene': 'EID1', 'score': 0.34}, {'connected_gene': 'CEP152', 'score': 0.26}]
chr15	GH15I048570	48570042	48571504	0.49	[{'connected_gene': 'DUT', 'score': 18.72}, {'connected_gene': 'ENSG00000259488', 'score': 13.87}, {'connected_gene': 'FBN1', 'score': 10.51}, {'connected_gene': 'SHC4', 'score': 9.0}, {'connected_gene': 'GC15P048560', 'score': 0.39}, {'connected_gene': 'GC15P048611', 'score': 0.26}, {'connected_gene': 'GC15M048517', 'score': 0.09}]
chr15	GH15I049043	49043601	49043800	0.2	[{'connected_gene': 'RN7SL577P', 'score': 550.77}, {'connected_gene': 'SHC4', 'score': 10.46}, {'connected_gene': 'SECISBP2L', 'score': 0.77}]
chr15	GH15I049133	49133973	49139176	0.86	[{'connected_gene': 'GC15M049139', 'score': 550.77}, {'connected_gene': 'ENSG00000200120', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.77}, {'connected_gene': 'SHC4', 'score': 10.61}, {'connected_gene': 'FGF7', 'score': 6.26}, {'connected_gene': 'GALK2', 'score': 5.29}, {'connected_gene': 'FAM227B', 'score': 4.79}, {'connected_gene': 'COPS2', 'score': 0.37}, {'connected_gene': 'GC15M049107', 'score': 0.31}]
chr15	GH15I048944	48944475	48946820	0.98	[{'connected_gene': 'ENSG00000259602', 'score': 0.44}, {'connected_gene': 'SHC4', 'score': 0.37}, {'connected_gene': 'GC15P048919', 'score': 0.31}]
chr15	GH15I048936	48936191	48937525	0.31	[{'connected_gene': 'ENSG00000259602', 'score': 550.77}, {'connected_gene': 'SHC4', 'score': 12.33}, {'connected_gene': 'GC15P048919', 'score': 0.37}]