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
ENST00000432054	[[129366634, 129370638], [129373810, 129373946], [129389172, 129390107], [129407019, 129407575]]	[[129370323, 129370638], [129373810, 129373946], [129389172, 129389711]]
ENST00000393238	[[129366634, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129547351], [129551616, 129551669], [129599151, 129599309]]	[[129370323, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129547221]]
ENST00000426664	[[129366636, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129546920], [129551616, 129551669], [129612336, 129612419]]	[[129370323, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129546879]]
ENST00000329333	[[129370017, 129370638], [129373810, 129373946], [129389172, 129390107], [129513166, 129513259]]	[[129370323, 129370638], [129373810, 129373946], [129389172, 129390107], [129513166, 129513205]]
ENST00000505616	[[129390091, 129390107], [129546645, 129546920], [129551616, 129551669], [129612336, 129612394]]	[[129390091, 129390107], [129546645, 129546879]]
ENST00000510323	[[129373809, 129373946], [129375498, 129375569]]	[[129373809, 129373861]]
ENST00000505924	[[129546598, 129546920], [129551616, 129551669], [129599151, 129599402], [129612336, 129612375]]	None
ENST00000513411	[[129546861, 129546920], [129551616, 129551669], [129585852, 129585943]]	[[129546861, 129546879]]
ENST00000512902	[[129547293, 129547351], [129551616, 129551669], [129585852, 129585941], [129599151, 129599402], [129612336, 129612418]]	None
ENST00000508869	[[129551600, 129551669], [129585852, 129585941], [129599151, 129599402], [129612336, 129612394]]	None
ENST00000503256	[[129567185, 129567255], [129576092, 129576248], [129585852, 129585941], [129587786, 129587943]]	None
ENST00000515024	[[129567188, 129567255], [129576092, 129576248], [129599151, 129599402], [129612336, 129612419]]	None
ENST00000508729	[[129576090, 129576248], [129599151, 129599402], [129612024, 129612164]]	None
ENST00000509440	[[129576202, 129576248], [129579782, 129579855], [129599151, 129599402], [129611415, 129611588]]	None
ENST00000510521	[[129599151, 129599402], [129612024, 129612262]]	None
NR_033361	[[129366634, 129370638], [129373810, 129373946], [129389172, 129390107], [129407019, 129407575]]	None
NM_001017395	[[129366634, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129547351], [129551616, 129551669], [129599151, 129599402]]	[[129370323, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129547221]]
NM_001128224	[[129366634, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129546920], [129551616, 129551669], [129612336, 129612419]]	[[129370323, 129370638], [129373810, 129373946], [129389172, 129390107], [129546645, 129546879]]

Promoter

Chrom	Start	End	Description
chr3	129375541	129375549	CAGE_peak_23_at_TMCC1_5end
chr3	129375556	129375570	CAGE_peak_16_at_TMCC1_5end
chr3	129375590	129375615	CAGE_peak_7_at_TMCC1_5end
chr3	129407220	129407232	CAGE_peak_24_at_TMCC1_5end
chr3	129407466	129407477	CAGE_peak_19_at_TMCC1_5end
chr3	129407485	129407505	CAGE_peak_5_at_TMCC1_5end
chr3	129407511	129407529	CAGE_peak_9_at_TMCC1_5end
chr3	129407535	129407543	CAGE_peak_21_at_TMCC1_5end
chr3	129513355	129513392	CAGE_peak_6_at_TMCC1_5end
chr3	129513407	129513425	CAGE_peak_10_at_TMCC1_5end
chr3	129513434	129513460	CAGE_peak_8_at_TMCC1_5end
chr3	129513704	129513729	CAGE_peak_12_at_TMCC1_5end
chr3	129546717	129546727	CAGE_peak_29_at_TMCC1_5end
chr3	129546740	129546757	CAGE_peak_13_at_TMCC1_5end
chr3	129546763	129546780	CAGE_peak_17_at_TMCC1_5end
chr3	129612520	129612579	CAGE_peak_1_at_TMCC1_5end
chr3	129612591	129612608	CAGE_peak_3_at_TMCC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I129822	129822400	129823200	0.2	[{'connected_gene': 'EFCAB12', 'score': 4.55}, {'connected_gene': 'ENSG00000283509', 'score': 0.77}, {'connected_gene': 'ENSG00000203644', 'score': 0.31}, {'connected_gene': 'TMCC1', 'score': 0.19}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129692	129692999	129695982	0.74	[{'connected_gene': 'FAM86HP', 'score': 4.79}, {'connected_gene': 'ENSG00000203644', 'score': 4.59}, {'connected_gene': 'PIR61156', 'score': 0.26}, {'connected_gene': 'GC03P129794', 'score': 0.19}, {'connected_gene': 'GC03P129807', 'score': 0.14}, {'connected_gene': 'TMCC1', 'score': 0.08}]
chr3	GH03I129827	129827001	129828527	0.63	[{'connected_gene': 'RHO', 'score': 10.07}, {'connected_gene': 'ENSG00000203644', 'score': 4.35}, {'connected_gene': 'ENSG00000283509', 'score': 0.44}, {'connected_gene': 'TMCC1', 'score': 0.2}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129824	129824715	129824898	0.66	[{'connected_gene': 'TMCC1', 'score': 24.77}, {'connected_gene': 'MBD4', 'score': 3.09}, {'connected_gene': 'H1FOO', 'score': 2.42}, {'connected_gene': 'ENSG00000283509', 'score': 0.44}, {'connected_gene': 'ENSG00000203644', 'score': 0.34}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129910	129910601	129912027	0.74	[{'connected_gene': 'TMCC1', 'score': 14.78}, {'connected_gene': 'MBD4', 'score': 7.33}, {'connected_gene': 'TMCC1-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000250643', 'score': 0.22}, {'connected_gene': 'GC03P129794', 'score': 0.06}]
chr3	GH03I129836	129836597	129837109	0.46	[{'connected_gene': 'TMCC1', 'score': 11.26}, {'connected_gene': 'RHO', 'score': 10.07}, {'connected_gene': 'ENSG00000203644', 'score': 0.39}, {'connected_gene': 'ENSG00000283509', 'score': 0.37}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129828	129828897	129830833	1.41	[{'connected_gene': 'TMCC1', 'score': 560.97}, {'connected_gene': 'RHO', 'score': 10.07}, {'connected_gene': 'ENSG00000283509', 'score': 0.39}, {'connected_gene': 'ENSG00000203644', 'score': 0.37}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129717	129717948	129718444	0.35	[{'connected_gene': 'TMCC1', 'score': 10.14}, {'connected_gene': 'RHO', 'score': 9.29}, {'connected_gene': 'PIR61156', 'score': 0.2}, {'connected_gene': 'GC03P129807', 'score': 0.17}, {'connected_gene': 'GC03P129794', 'score': 0.15}]
chr3	GH03I129676	129676132	129678308	0.2	[{'connected_gene': 'TMCC1', 'score': 10.44}, {'connected_gene': 'RHO', 'score': 10.05}, {'connected_gene': 'ENSG00000203644', 'score': 5.41}, {'connected_gene': 'PIR61156', 'score': 0.34}, {'connected_gene': 'GC03P129794', 'score': 0.22}, {'connected_gene': 'GC03P129807', 'score': 0.12}]
chr3	GH03I129917	129917208	129917554	0.63	[{'connected_gene': 'TMCC1', 'score': 27.64}, {'connected_gene': 'RNY3P13', 'score': 11.06}, {'connected_gene': 'MBD4', 'score': 7.49}, {'connected_gene': 'ENSG00000203644', 'score': 4.22}, {'connected_gene': 'TMCC1-AS1', 'score': 0.34}, {'connected_gene': 'ENSG00000250643', 'score': 0.23}, {'connected_gene': 'GC03P129794', 'score': 0.06}]
chr3	GH03I129888	129888344	129894601	2.2	[{'connected_gene': 'TMCC1', 'score': 550.77}, {'connected_gene': 'RNY3P13', 'score': 10.73}, {'connected_gene': 'TMCC1-AS1', 'score': 5.38}, {'connected_gene': 'ENSG00000203644', 'score': 0.26}, {'connected_gene': 'GC03P129794', 'score': 0.06}]
chr3	GH03I129673	129673513	129675282	0.92	[{'connected_gene': 'TMCC1', 'score': 10.44}, {'connected_gene': 'PIR61156', 'score': 0.34}, {'connected_gene': 'GC03P129794', 'score': 0.23}, {'connected_gene': 'GC03P129807', 'score': 0.12}]
chr3	GH03I129880	129880429	129880488	0.5	[{'connected_gene': 'TMCC1', 'score': 550.39}, {'connected_gene': 'ENSG00000203644', 'score': 0.29}, {'connected_gene': 'GC03P129794', 'score': 0.07}]
chr3	GH03I129800	129800902	129801296	0.33	[{'connected_gene': 'H1FOO', 'score': 2.89}, {'connected_gene': 'GC03P129807', 'score': 0.44}, {'connected_gene': 'TMCC1', 'score': 0.16}, {'connected_gene': 'PIR61156', 'score': 0.11}, {'connected_gene': 'GC03P129794', 'score': 0.1}]
chr3	GH03I129722	129722680	129724975	0.89	[{'connected_gene': 'RNY3P13', 'score': 10.74}, {'connected_gene': 'RHO', 'score': 10.11}, {'connected_gene': 'ENSG00000203644', 'score': 4.85}, {'connected_gene': 'PIR61156', 'score': 0.19}, {'connected_gene': 'GC03P129807', 'score': 0.18}, {'connected_gene': 'GC03P129794', 'score': 0.15}, {'connected_gene': 'TMCC1', 'score': 0.1}]
chr3	GH03I129650	129650200	129650601	1.02	[{'connected_gene': 'RNY3P13', 'score': 12.76}, {'connected_gene': 'RHO', 'score': 9.86}, {'connected_gene': 'PIR61156', 'score': 0.77}, {'connected_gene': 'ENSG00000248659', 'score': 0.37}, {'connected_gene': 'GC03P129794', 'score': 0.31}, {'connected_gene': 'TMCC1', 'score': 0.07}]
chr3	GH03I129792	129792703	129796838	1.1	[{'connected_gene': 'RNY3P13', 'score': 12.73}, {'connected_gene': 'IFT122', 'score': 4.93}, {'connected_gene': 'TMCC1-AS1', 'score': 4.88}, {'connected_gene': 'GC03P129807', 'score': 0.39}, {'connected_gene': 'TMCC1', 'score': 0.15}, {'connected_gene': 'PIR61156', 'score': 0.11}, {'connected_gene': 'GC03P129794', 'score': 0.09}]
chr3	GH03I129661	129661183	129667133	1.26	[{'connected_gene': 'RNY3P13', 'score': 11.86}, {'connected_gene': 'PLXND1', 'score': 11.15}, {'connected_gene': 'RHO', 'score': 10.34}, {'connected_gene': 'IFT122', 'score': 4.88}, {'connected_gene': 'ENSG00000203644', 'score': 4.62}, {'connected_gene': 'TMCC1-AS1', 'score': 4.45}, {'connected_gene': 'PIR61156', 'score': 0.39}, {'connected_gene': 'GC03P129794', 'score': 0.26}, {'connected_gene': 'GC03P129807', 'score': 0.11}, {'connected_gene': 'TMCC1', 'score': 0.07}]
chr3	GH03I129653	129653812	129658939	1.31	[{'connected_gene': 'RNY3P13', 'score': 12.51}, {'connected_gene': 'PLXND1', 'score': 11.18}, {'connected_gene': 'TMCC1', 'score': 10.59}, {'connected_gene': 'RHO', 'score': 10.35}, {'connected_gene': 'ENSG00000203644', 'score': 4.61}, {'connected_gene': 'TMCC1-AS1', 'score': 4.53}, {'connected_gene': 'PIR61156', 'score': 0.77}, {'connected_gene': 'GC03P129794', 'score': 0.29}, {'connected_gene': 'GC03P129807', 'score': 0.1}]
chr3	GH03I129820	129820738	129820887	0.75	[{'connected_gene': 'RNY3P13', 'score': 550.77}, {'connected_gene': 'ENSG00000283509', 'score': 550.77}, {'connected_gene': 'GC03P129837', 'score': 550.77}, {'connected_gene': 'ENSG00000203644', 'score': 0.31}, {'connected_gene': 'TMCC1', 'score': 0.19}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129686	129686740	129689379	1.61	[{'connected_gene': 'RNY3P13', 'score': 11.24}, {'connected_gene': 'TMCC1-AS1', 'score': 4.84}, {'connected_gene': 'PIR61156', 'score': 0.28}, {'connected_gene': 'GC03P129794', 'score': 0.2}, {'connected_gene': 'GC03P129807', 'score': 0.13}, {'connected_gene': 'TMCC1', 'score': 0.08}]
chr3	GH03I129690	129690400	129690801	1.14	[{'connected_gene': 'PIR61156', 'score': 0.28}, {'connected_gene': 'GC03P129794', 'score': 0.2}, {'connected_gene': 'GC03P129807', 'score': 0.13}, {'connected_gene': 'TMCC1', 'score': 0.08}]
chr3	GH03I129689	129689998	129690128	0.4	[{'connected_gene': 'PIR61156', 'score': 0.28}, {'connected_gene': 'GC03P129794', 'score': 0.2}, {'connected_gene': 'GC03P129807', 'score': 0.13}, {'connected_gene': 'TMCC1', 'score': 0.08}]
chr3	GH03I129823	129823501	129823554	0.2	[{'connected_gene': 'ENSG00000283509', 'score': 0.77}, {'connected_gene': 'ENSG00000203644', 'score': 0.34}, {'connected_gene': 'TMCC1', 'score': 0.19}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129699	129699164	129699914	0.6	[{'connected_gene': 'PIR61156', 'score': 0.25}, {'connected_gene': 'GC03P129794', 'score': 0.18}, {'connected_gene': 'GC03P129807', 'score': 0.14}, {'connected_gene': 'TMCC1', 'score': 0.08}]
chr3	GH03I129767	129767306	129767436	0.22	[{'connected_gene': 'GC03P129807', 'score': 0.26}, {'connected_gene': 'PIR61156', 'score': 0.14}, {'connected_gene': 'TMCC1', 'score': 0.13}, {'connected_gene': 'GC03P129794', 'score': 0.11}]
chr3	GH03I129825	129825038	129825147	0.68	[{'connected_gene': 'ENSG00000283509', 'score': 0.44}, {'connected_gene': 'ENSG00000203644', 'score': 0.34}, {'connected_gene': 'TMCC1', 'score': 0.2}, {'connected_gene': 'GC03P129794', 'score': 0.08}]
chr3	GH03I129651	129650804	129653017	1.14	[{'connected_gene': 'PIR61156', 'score': 550.77}, {'connected_gene': 'RNY3P13', 'score': 12.76}, {'connected_gene': 'RHO', 'score': 9.86}, {'connected_gene': 'IFT122', 'score': 4.54}, {'connected_gene': 'ENSG00000248659', 'score': 0.37}, {'connected_gene': 'GC03P129794', 'score': 0.31}, {'connected_gene': 'TMCC1', 'score': 0.07}]
chr3	GH03I129854	129854458	129857477	0.95	[{'connected_gene': 'ENSG00000203644', 'score': 5.31}, {'connected_gene': 'TMCC1-AS1', 'score': 4.74}, {'connected_gene': 'ACAD9', 'score': 4.04}, {'connected_gene': 'TMCC1', 'score': 0.28}, {'connected_gene': 'GC03P129794', 'score': 0.07}]