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
ENST00000521703	[[117778743, 117779030], [117798741, 117798888], [117861126, 117861525]]	[[117778842, 117779030], [117798741, 117798796]]
ENST00000517820	[[117778810, 117779030], [117861126, 117861702]]	[[117778842, 117779030], [117861126, 117861256]]
ENST00000524128	[[117782428, 117782605], [117791721, 117791825], [117798741, 117798888], [117861126, 117861318]]	[[117782560, 117782605], [117791721, 117791825], [117798741, 117798796]]
ENST00000520733	[[117782428, 117782605], [117861126, 117861318]]	[[117782560, 117782605], [117861126, 117861276]]
ENST00000309822	[[117778741, 117779030], [117782430, 117782605], [117783694, 117786923]]	[[117778842, 117779030], [117782430, 117782605], [117783694, 117784081]]
ENST00000357148	[[117778741, 117779030], [117782430, 117782605], [117798741, 117798816]]	[[117778842, 117779030], [117782430, 117782605], [117798741, 117798816]]
ENST00000517814	[[117778746, 117779030], [117782430, 117782605], [117791721, 117791825]]	[[117778842, 117779030], [117782430, 117782605], [117791721, 117791825]]
ENST00000521071	[[117778747, 117779030], [117791721, 117791825], [117798741, 117799037]]	[[117778842, 117779030], [117791721, 117791743]]
ENST00000519443	[[117778794, 117779030], [117782430, 117783088]]	None
ENST00000521974	[[117782336, 117782605], [117783694, 117784022]]	None
NM_032334	[[117778741, 117779030], [117782430, 117782605], [117783694, 117786923]]	[[117778842, 117779030], [117782430, 117782605], [117783694, 117784081]]

Promoter

Chrom	Start	End	Description
chr8	117778736	117778808	CAGE_peak_1_at_UTP23_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I117519	117519762	117522196	2.05	[{'connected_gene': 'MED30', 'score': 558.04}, {'connected_gene': 'LOC105375716', 'score': 550.77}, {'connected_gene': 'UTP23', 'score': 25.41}, {'connected_gene': 'EIF3H', 'score': 11.97}, {'connected_gene': 'EXT1', 'score': 9.36}, {'connected_gene': 'RPS10P16', 'score': 0.77}]
chr8	GH08I116754	116754529	116756600	2.02	[{'connected_gene': 'EIF3H', 'score': 560.15}, {'connected_gene': 'MED30', 'score': 26.69}, {'connected_gene': 'UTP23', 'score': 16.36}, {'connected_gene': 'LOC105375713', 'score': 0.14}]
chr8	GH08I115987	115987079	115988466	0.71	[{'connected_gene': 'EIF3H', 'score': 11.67}, {'connected_gene': 'UTP23', 'score': 11.53}, {'connected_gene': 'RNA5SP276', 'score': 0.28}, {'connected_gene': 'TRPS1', 'score': 0.1}, {'connected_gene': 'LINC00536', 'score': 0.05}]
chr8	GH08I116656	116656930	116659700	1.28	[{'connected_gene': 'EIF3H', 'score': 6.43}, {'connected_gene': 'LOC105375713', 'score': 0.44}, {'connected_gene': 'UTP23', 'score': 0.14}]
chr8	GH08I117618	117618905	117620492	0.83	[{'connected_gene': 'UTP23', 'score': 14.94}, {'connected_gene': 'MED30', 'score': 13.97}, {'connected_gene': 'LOC105375721', 'score': 0.16}, {'connected_gene': 'RPS10P16', 'score': 0.15}]
chr8	GH08I117729	117729025	117733018	1.04	[{'connected_gene': 'UTP23', 'score': 10.41}, {'connected_gene': 'MED30', 'score': 9.89}, {'connected_gene': 'LOC105375721', 'score': 0.37}, {'connected_gene': 'GC08P117840', 'score': 0.14}]
chr8	GH08I116765	116765379	116768303	2.06	[{'connected_gene': 'UTP23', 'score': 565.0}, {'connected_gene': 'EIF3H', 'score': 562.72}, {'connected_gene': 'MED30', 'score': 10.37}, {'connected_gene': 'RAD21', 'score': 5.15}]
chr8	GH08I116731	116731107	116732631	0.46	[{'connected_gene': 'UTP23', 'score': 0.29}, {'connected_gene': 'EIF3H', 'score': 0.28}, {'connected_gene': 'LOC105375713', 'score': 0.18}]
chr8	GH08I116728	116728484	116728910	1	[{'connected_gene': 'UTP23', 'score': 0.28}, {'connected_gene': 'EIF3H', 'score': 0.28}, {'connected_gene': 'LOC105375713', 'score': 0.18}]
chr8	GH08I116730	116730182	116730400	0.8	[{'connected_gene': 'UTP23', 'score': 0.28}, {'connected_gene': 'EIF3H', 'score': 0.28}, {'connected_gene': 'LOC105375713', 'score': 0.18}]
chr8	GH08I116739	116739706	116740989	0.38	[{'connected_gene': 'UTP23', 'score': 0.31}, {'connected_gene': 'EIF3H', 'score': 0.31}, {'connected_gene': 'LOC105375713', 'score': 0.16}]
chr8	GH08I115867	115867553	115867905	0.85	[{'connected_gene': 'UTP23', 'score': 10.85}, {'connected_gene': 'TRPS1', 'score': 9.02}, {'connected_gene': 'RNA5SP276', 'score': 0.1}]
chr8	GH08I116694	116694601	116695799	0.58	[{'connected_gene': 'UTP23', 'score': 5.68}, {'connected_gene': 'LOC105375713', 'score': 0.25}, {'connected_gene': 'EIF3H', 'score': 0.19}]
chr8	GH08I116837	116837842	116837931	0.63	[{'connected_gene': 'RAD21-AS1', 'score': 10.52}, {'connected_gene': 'RAD21', 'score': 10.52}, {'connected_gene': 'GC08P116801', 'score': 0.28}, {'connected_gene': 'UTP23', 'score': 0.19}]
chr8	GH08I116849	116849342	116849551	0.31	[{'connected_gene': 'RAD21-AS1', 'score': 12.01}, {'connected_gene': 'RAD21', 'score': 11.98}, {'connected_gene': 'GC08P116801', 'score': 0.25}, {'connected_gene': 'UTP23', 'score': 0.18}]
chr8	GH08I116843	116843791	116844572	0.43	[{'connected_gene': 'RAD21-AS1', 'score': 11.58}, {'connected_gene': 'RAD21', 'score': 11.58}, {'connected_gene': 'GC08P116801', 'score': 0.26}, {'connected_gene': 'UTP23', 'score': 0.18}]
chr8	GH08I116869	116869927	116875471	2.48	[{'connected_gene': 'RAD21', 'score': 564.65}, {'connected_gene': 'RAD21-AS1', 'score': 550.77}, {'connected_gene': 'MED30', 'score': 10.37}, {'connected_gene': 'UTP23', 'score': 8.34}, {'connected_gene': 'MIR3610', 'score': 0.77}, {'connected_gene': 'GC08P116801', 'score': 0.19}]
chr8	GH08I116650	116650654	116653600	1.11	[{'connected_gene': 'RAD21', 'score': 1.24}, {'connected_gene': 'LOC105375713', 'score': 0.77}, {'connected_gene': 'UTP23', 'score': 0.14}, {'connected_gene': 'EIF3H', 'score': 0.14}]
chr8	GH08I116649	116649902	116650051	0.65	[{'connected_gene': 'LOC105375713', 'score': 550.77}, {'connected_gene': 'UTP23', 'score': 0.13}, {'connected_gene': 'EIF3H', 'score': 0.13}]
chr8	GH08I116685	116685170	116687490	0.76	[{'connected_gene': 'LOC105375713', 'score': 0.28}, {'connected_gene': 'UTP23', 'score': 0.18}, {'connected_gene': 'EIF3H', 'score': 0.18}]
chr8	GH08I116706	116706282	116706431	0.69	[{'connected_gene': 'LOC105375713', 'score': 0.22}, {'connected_gene': 'UTP23', 'score': 0.21}, {'connected_gene': 'EIF3H', 'score': 0.21}]
chr8	GH08I116687	116687793	116688796	0.65	[{'connected_gene': 'LOC105375713', 'score': 0.28}, {'connected_gene': 'UTP23', 'score': 0.18}, {'connected_gene': 'EIF3H', 'score': 0.18}]
chr8	GH08I116878	116878958	116879248	1	[{'connected_gene': 'PIR55072', 'score': 550.77}, {'connected_gene': 'RAD21', 'score': 7.19}, {'connected_gene': 'UTP23', 'score': 2.13}, {'connected_gene': 'GC08M116875', 'score': 0.77}, {'connected_gene': 'GC08P116801', 'score': 0.18}]
chr8	GH08I116801	116801631	116803543	0.64	[{'connected_gene': 'GC08P116801', 'score': 550.77}, {'connected_gene': 'AARD', 'score': 11.24}, {'connected_gene': 'RAD21-AS1', 'score': 11.06}, {'connected_gene': 'RAD21', 'score': 11.06}, {'connected_gene': 'UTP23', 'score': 0.28}]
chr8	GH08I116802	116801182	116801331	0.43	[{'connected_gene': 'GC08P116801', 'score': 550.77}, {'connected_gene': 'AARD', 'score': 11.24}, {'connected_gene': 'RAD21-AS1', 'score': 11.06}, {'connected_gene': 'RAD21', 'score': 11.06}, {'connected_gene': 'UTP23', 'score': 0.29}, {'connected_gene': 'GC08P116769', 'score': 0.29}]