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
ENST00000262395	[[27071001, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075684], [27075962, 27077974]]	[[27071130, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075684], [27075962, 27076595]]
ENST00000478021	[[27071035, 27071273], [27071718, 27071975], [27072313, 27072536]]	[[27071130, 27071273], [27071718, 27071725]]
ENST00000461195	[[27071036, 27071273], [27074230, 27074282], [27074860, 27075196], [27075279, 27075441]]	None
ENST00000498540	[[27071040, 27071273], [27074235, 27074750]]	None
ENST00000422344	[[27071047, 27071273], [27074230, 27074282], [27074839, 27074965], [27075034, 27075196], [27075279, 27075344]]	[[27071130, 27071273], [27074230, 27074282], [27074839, 27074965], [27075034, 27075196], [27075279, 27075344]]
ENST00000586813	[[27071053, 27071273], [27074235, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075621]]	[[27071130, 27071273], [27074235, 27074254]]
ENST00000444415	[[27071057, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075684], [27075962, 27076337], [27076827, 27077055]]	[[27071130, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075684], [27075962, 27076337], [27076827, 27076986]]
ENST00000394925	[[27071072, 27071273], [27074230, 27074731]]	None
ENST00000262396	[[27071102, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27076469, 27076662]]	[[27071130, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27076469, 27076595]]
ENST00000475329	[[27071240, 27071273], [27074230, 27074409], [27074860, 27074965], [27075034, 27075196], [27075279, 27075344]]	[[27071240, 27071273], [27074230, 27074409], [27074860, 27074925]]
ENST00000584944	[[27073760, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075315]]	[[27075088, 27075196], [27075279, 27075315]]
ENST00000473421	[[27074033, 27074137], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441]]	[[27075088, 27075196], [27075279, 27075441]]
ENST00000454852	[[27074231, 27074282], [27074860, 27074965], [27075034, 27075153], [27075279, 27075441], [27075528, 27075684], [27075962, 27076041]]	[[27074231, 27074282], [27074860, 27074965], [27075034, 27075153], [27075279, 27075343]]
ENST00000578917	[[27074599, 27074772], [27074860, 27075171]]	None
ENST00000469529	[[27074747, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075684], [27075962, 27076052]]	None
ENST00000580073	[[27075141, 27075196], [27075279, 27075441], [27075528, 27075760]]	None
NM_004295	[[27071022, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075684], [27075962, 27077976]]	[[27071130, 27071273], [27074230, 27074282], [27074860, 27074965], [27075034, 27075196], [27075279, 27075441], [27075528, 27075684], [27075962, 27076595]]

Promoter

Chrom	Start	End	Description
chr17	27071020	27071063	CAGE_peak_1_at_TRAF4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028737	28737263	28751176	2.59	[{'connected_gene': 'TRAF4', 'score': 566.31}, {'connected_gene': 'ENSG00000265073', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 52.45}, {'connected_gene': 'NUFIP2', 'score': 44.11}, {'connected_gene': 'ENSG00000264577', 'score': 35.65}, {'connected_gene': 'PHF12', 'score': 24.3}, {'connected_gene': 'ENSG00000265908', 'score': 21.52}, {'connected_gene': 'ENSG00000265205', 'score': 21.34}, {'connected_gene': 'PROCA1', 'score': 20.34}, {'connected_gene': 'TMEM199', 'score': 19.49}, {'connected_gene': 'RPL23A', 'score': 11.61}, {'connected_gene': 'SDF2', 'score': 11.31}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}, {'connected_gene': 'ENSG00000265474', 'score': 0.77}, {'connected_gene': 'GC17P028749', 'score': 0.77}, {'connected_gene': 'ENSG00000265840', 'score': 0.44}, {'connected_gene': 'GC17P028752', 'score': 0.44}, {'connected_gene': 'NEK8', 'score': 0.37}]
chr17	GH17I028773	28773892	28774162	0.22	[{'connected_gene': 'TRAF4', 'score': 24.32}, {'connected_gene': 'ERAL1', 'score': 12.45}, {'connected_gene': 'FAM222B', 'score': 12.45}, {'connected_gene': 'FLOT2', 'score': 11.68}, {'connected_gene': 'DHRS13', 'score': 11.56}, {'connected_gene': 'SNORD4A', 'score': 11.44}, {'connected_gene': 'SNORD42A', 'score': 11.44}, {'connected_gene': 'SNORD4B', 'score': 11.44}, {'connected_gene': 'TLCD1', 'score': 10.97}, {'connected_gene': 'NEK8', 'score': 10.97}, {'connected_gene': 'ENSG00000265840', 'score': 0.34}, {'connected_gene': 'RPL31P58', 'score': 0.31}]
chr17	GH17I028765	28764416	28767223	0.38	[{'connected_gene': 'TRAF4', 'score': 24.88}, {'connected_gene': 'PROCA1', 'score': 16.36}, {'connected_gene': 'TLCD1', 'score': 12.16}, {'connected_gene': 'NEK8', 'score': 12.16}, {'connected_gene': 'SNORD42A', 'score': 12.15}, {'connected_gene': 'SNORD4B', 'score': 12.15}, {'connected_gene': 'FAM222B', 'score': 12.0}, {'connected_gene': 'ERAL1', 'score': 12.0}, {'connected_gene': 'SNORD4A', 'score': 11.84}, {'connected_gene': 'RPL23A', 'score': 11.83}, {'connected_gene': 'SNORD42B', 'score': 11.83}, {'connected_gene': 'RAB34', 'score': 11.83}, {'connected_gene': 'FLOT2', 'score': 11.67}, {'connected_gene': 'DHRS13', 'score': 11.44}, {'connected_gene': 'PHF12', 'score': 10.21}, {'connected_gene': 'SEZ6', 'score': 10.2}, {'connected_gene': 'KIAA0100', 'score': 9.88}, {'connected_gene': 'ENSG00000265840', 'score': 0.37}, {'connected_gene': 'RPL31P58', 'score': 0.28}]
chr17	GH17I028987	28987143	28987292	0.38	[{'connected_gene': 'TRAF4', 'score': 7.55}, {'connected_gene': 'SEZ6', 'score': 0.37}, {'connected_gene': 'PHF12', 'score': 0.28}, {'connected_gene': 'PIPOX', 'score': 0.28}]
chr17	GH17I028760	28760182	28762360	1.09	[{'connected_gene': 'TRAF4', 'score': 12.59}, {'connected_gene': 'TLCD1', 'score': 12.18}, {'connected_gene': 'NEK8', 'score': 12.16}, {'connected_gene': 'SNORD42A', 'score': 12.16}, {'connected_gene': 'SNORD4B', 'score': 12.16}, {'connected_gene': 'FAM222B', 'score': 11.99}, {'connected_gene': 'ERAL1', 'score': 11.99}, {'connected_gene': 'SNORD4A', 'score': 11.86}, {'connected_gene': 'RPL23A', 'score': 11.84}, {'connected_gene': 'SNORD42B', 'score': 11.84}, {'connected_gene': 'RAB34', 'score': 11.84}, {'connected_gene': 'FLOT2', 'score': 11.43}, {'connected_gene': 'DHRS13', 'score': 11.24}, {'connected_gene': 'PROCA1', 'score': 10.81}, {'connected_gene': 'PHF12', 'score': 10.12}, {'connected_gene': 'SEZ6', 'score': 10.11}, {'connected_gene': 'KIAA0100', 'score': 9.66}, {'connected_gene': 'ENSG00000265840', 'score': 0.39}, {'connected_gene': 'RPL31P58', 'score': 0.26}]
chr17	GH17I028791	28791557	28791700	0.25	[{'connected_gene': 'TRAF4', 'score': 11.95}, {'connected_gene': 'TLCD1', 'score': 11.51}, {'connected_gene': 'NEK8', 'score': 11.51}, {'connected_gene': 'SNORD42A', 'score': 11.51}, {'connected_gene': 'SNORD4B', 'score': 11.51}, {'connected_gene': 'DHRS13', 'score': 10.98}, {'connected_gene': 'FLOT2', 'score': 10.85}, {'connected_gene': 'RPL31P58', 'score': 0.39}, {'connected_gene': 'ENSG00000265840', 'score': 0.26}, {'connected_gene': 'FAM222B', 'score': 0.21}]
chr17	GH17I028788	28788223	28788372	0.76	[{'connected_gene': 'TRAF4', 'score': 11.97}, {'connected_gene': 'TLCD1', 'score': 11.51}, {'connected_gene': 'NEK8', 'score': 11.51}, {'connected_gene': 'SNORD42A', 'score': 11.51}, {'connected_gene': 'SNORD4B', 'score': 11.51}, {'connected_gene': 'DHRS13', 'score': 10.98}, {'connected_gene': 'FLOT2', 'score': 10.85}, {'connected_gene': 'RPL31P58', 'score': 0.39}, {'connected_gene': 'ENSG00000265840', 'score': 0.28}, {'connected_gene': 'FAM222B', 'score': 0.2}]
chr17	GH17I028763	28763583	28763732	0.9	[{'connected_gene': 'TRAF4', 'score': 12.59}, {'connected_gene': 'TLCD1', 'score': 12.16}, {'connected_gene': 'NEK8', 'score': 12.16}, {'connected_gene': 'SNORD4B', 'score': 12.16}, {'connected_gene': 'SNORD42A', 'score': 12.15}, {'connected_gene': 'FAM222B', 'score': 11.99}, {'connected_gene': 'ERAL1', 'score': 11.99}, {'connected_gene': 'RPL23A', 'score': 11.84}, {'connected_gene': 'SNORD4A', 'score': 11.84}, {'connected_gene': 'SNORD42B', 'score': 11.84}, {'connected_gene': 'RAB34', 'score': 11.83}, {'connected_gene': 'FLOT2', 'score': 11.43}, {'connected_gene': 'DHRS13', 'score': 11.25}, {'connected_gene': 'PROCA1', 'score': 10.79}, {'connected_gene': 'PHF12', 'score': 10.12}, {'connected_gene': 'SEZ6', 'score': 10.11}, {'connected_gene': 'KIAA0100', 'score': 9.66}, {'connected_gene': 'ENSG00000265840', 'score': 0.39}, {'connected_gene': 'RPL31P58', 'score': 0.28}]
chr17	GH17I028793	28793423	28793512	0.52	[{'connected_gene': 'TRAF4', 'score': 11.95}, {'connected_gene': 'TLCD1', 'score': 11.51}, {'connected_gene': 'NEK8', 'score': 11.51}, {'connected_gene': 'SNORD4B', 'score': 11.51}, {'connected_gene': 'SNORD42A', 'score': 11.5}, {'connected_gene': 'DHRS13', 'score': 10.99}, {'connected_gene': 'FLOT2', 'score': 10.86}, {'connected_gene': 'RPL31P58', 'score': 0.44}, {'connected_gene': 'ENSG00000265840', 'score': 0.26}, {'connected_gene': 'FAM222B', 'score': 0.21}]
chr17	GH17I028786	28786880	28786939	0.5	[{'connected_gene': 'FAM222B', 'score': 550.2}, {'connected_gene': 'TRAF4', 'score': 12.05}, {'connected_gene': 'FLOT2', 'score': 11.51}, {'connected_gene': 'DHRS13', 'score': 11.26}, {'connected_gene': 'RPL31P58', 'score': 0.37}, {'connected_gene': 'ENSG00000265840', 'score': 0.28}]
chr17	GH17I028807	28807015	28813863	2.47	[{'connected_gene': 'FAM222B', 'score': 562.25}, {'connected_gene': 'TRAF4', 'score': 25.05}, {'connected_gene': 'LOC101927018', 'score': 12.46}, {'connected_gene': 'ERAL1', 'score': 12.25}, {'connected_gene': 'FLOT2', 'score': 11.49}, {'connected_gene': 'DHRS13', 'score': 11.35}, {'connected_gene': 'TLCD1', 'score': 11.04}, {'connected_gene': 'NEK8', 'score': 11.04}, {'connected_gene': 'SNORD42A', 'score': 11.03}, {'connected_gene': 'SNORD4B', 'score': 11.03}, {'connected_gene': 'SNORD4A', 'score': 10.69}, {'connected_gene': 'SNORD42B', 'score': 10.69}, {'connected_gene': 'RPL23A', 'score': 10.68}, {'connected_gene': 'RAB34', 'score': 10.68}, {'connected_gene': 'SUPT6H', 'score': 10.44}, {'connected_gene': 'KIAA0100', 'score': 10.1}, {'connected_gene': 'PROCA1', 'score': 10.05}, {'connected_gene': 'GC17P028803', 'score': 0.44}, {'connected_gene': 'GC17P028835', 'score': 0.34}]
chr17	GH17I028841	28841340	28843400	2.03	[{'connected_gene': 'FAM222B', 'score': 550.39}, {'connected_gene': 'RAB34', 'score': 14.71}, {'connected_gene': 'TRAF4', 'score': 11.57}, {'connected_gene': 'SARM1', 'score': 10.82}, {'connected_gene': 'RPL23A', 'score': 10.14}, {'connected_gene': 'TAOK1', 'score': 9.69}, {'connected_gene': 'GIT1', 'score': 3.76}, {'connected_gene': 'ENSG00000264138', 'score': 0.44}, {'connected_gene': 'ENSG00000238516', 'score': 0.44}]
chr17	GH17I029175	29175769	29181465	2.62	[{'connected_gene': 'MYO18A', 'score': 581.89}, {'connected_gene': 'TMEM199', 'score': 19.81}, {'connected_gene': 'IFT20', 'score': 10.15}, {'connected_gene': 'TIAF1', 'score': 6.49}, {'connected_gene': 'ENSG00000265474', 'score': 4.63}, {'connected_gene': 'TLCD1', 'score': 2.75}, {'connected_gene': 'TRAF4', 'score': 2.19}, {'connected_gene': 'GIT1', 'score': 1.27}, {'connected_gene': 'ENSG00000263709', 'score': 0.28}, {'connected_gene': 'GC17M029118', 'score': 0.13}]
chr17	GH17I028317	28317529	28321207	2.04	[{'connected_gene': 'TMEM97', 'score': 564.02}, {'connected_gene': 'PIR55263', 'score': 550.77}, {'connected_gene': 'KRT18P55', 'score': 550.77}, {'connected_gene': 'LOC101927018', 'score': 31.72}, {'connected_gene': 'SUPT6H', 'score': 30.82}, {'connected_gene': 'NUFIP2', 'score': 28.42}, {'connected_gene': 'ENSG00000264577', 'score': 27.01}, {'connected_gene': 'PHF12', 'score': 25.72}, {'connected_gene': 'ENSG00000265908', 'score': 24.26}, {'connected_gene': 'ITM2BP1', 'score': 19.95}, {'connected_gene': 'TMEM199', 'score': 19.62}, {'connected_gene': 'PIGS', 'score': 12.45}, {'connected_gene': 'SDF2', 'score': 12.45}, {'connected_gene': 'ENSG00000265205', 'score': 11.58}, {'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.34}, {'connected_gene': 'TRAF4', 'score': 4.67}, {'connected_gene': 'GC17M029020', 'score': 0.39}]
chr17	GH17I028915	28915835	28917945	0.64	[{'connected_gene': 'ERAL1', 'score': 12.41}, {'connected_gene': 'FAM222B', 'score': 12.41}, {'connected_gene': 'PHF12', 'score': 11.17}, {'connected_gene': 'SEZ6', 'score': 11.04}, {'connected_gene': 'SNORD42A', 'score': 11.0}, {'connected_gene': 'SNORD4B', 'score': 11.0}, {'connected_gene': 'SNORD4A', 'score': 10.6}, {'connected_gene': 'RPL23A', 'score': 10.6}, {'connected_gene': 'SNORD42B', 'score': 10.6}, {'connected_gene': 'RAB34', 'score': 10.6}, {'connected_gene': 'TRAF4', 'score': 3.88}, {'connected_gene': 'LOC101927018', 'score': 0.44}, {'connected_gene': 'DHRS13', 'score': 0.39}]
chr17	GH17I028891	28891615	28899032	2.44	[{'connected_gene': 'FLOT2', 'score': 550.77}, {'connected_gene': 'NUFIP2', 'score': 16.7}, {'connected_gene': 'SUPT6H', 'score': 16.45}, {'connected_gene': 'PHF12', 'score': 15.78}, {'connected_gene': 'ENSG00000264577', 'score': 15.3}, {'connected_gene': 'ENSG00000265908', 'score': 12.61}, {'connected_gene': 'ENSG00000265205', 'score': 11.56}, {'connected_gene': 'RPL23A', 'score': 11.37}, {'connected_gene': 'SDF2', 'score': 11.2}, {'connected_gene': 'PROCA1', 'score': 10.81}, {'connected_gene': 'SARM1', 'score': 10.8}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}, {'connected_gene': 'TMEM199', 'score': 9.93}, {'connected_gene': 'TRAF4', 'score': 3.88}, {'connected_gene': 'ENSG00000264304', 'score': 0.77}, {'connected_gene': 'ENSG00000266642', 'score': 0.77}, {'connected_gene': 'DHRS13', 'score': 0.44}]
chr17	GH17I028857	28857862	28859543	0.59	[{'connected_gene': 'FLOT2', 'score': 12.4}, {'connected_gene': 'DHRS13', 'score': 11.68}, {'connected_gene': 'SNORD4A', 'score': 10.74}, {'connected_gene': 'SNORD42A', 'score': 10.74}, {'connected_gene': 'SNORD4B', 'score': 10.73}, {'connected_gene': 'TRAF4', 'score': 10.47}, {'connected_gene': 'KIAA0100', 'score': 9.55}, {'connected_gene': 'ERAL1', 'score': 0.77}, {'connected_gene': 'GC17P028862', 'score': 0.77}, {'connected_gene': 'FAM222B', 'score': 0.77}]
chr17	GH17I028901	28901543	28903692	2.32	[{'connected_gene': 'DHRS13', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 50.32}, {'connected_gene': 'LOC101927018', 'score': 43.21}, {'connected_gene': 'NUFIP2', 'score': 41.7}, {'connected_gene': 'PHF12', 'score': 39.86}, {'connected_gene': 'ENSG00000264577', 'score': 39.69}, {'connected_gene': 'ENSG00000265908', 'score': 34.19}, {'connected_gene': 'SDF2', 'score': 30.9}, {'connected_gene': 'ENSG00000265205', 'score': 30.04}, {'connected_gene': 'PIGS', 'score': 28.69}, {'connected_gene': 'ENSG00000264290', 'score': 22.08}, {'connected_gene': 'RPL23A', 'score': 20.97}, {'connected_gene': 'ENSG00000264044', 'score': 10.31}, {'connected_gene': 'RAB34', 'score': 9.79}, {'connected_gene': 'TRAF4', 'score': 3.91}, {'connected_gene': 'ENSG00000266642', 'score': 0.77}]
chr17	GH17I028767	28767569	28768607	0.2	[{'connected_gene': 'PROCA1', 'score': 13.91}, {'connected_gene': 'TRAF4', 'score': 12.11}, {'connected_gene': 'FLOT2', 'score': 11.68}, {'connected_gene': 'SNORD42A', 'score': 11.47}, {'connected_gene': 'SNORD4B', 'score': 11.47}, {'connected_gene': 'ERAL1', 'score': 11.47}, {'connected_gene': 'FAM222B', 'score': 11.47}, {'connected_gene': 'SNORD4A', 'score': 11.46}, {'connected_gene': 'DHRS13', 'score': 11.44}, {'connected_gene': 'TLCD1', 'score': 10.99}, {'connected_gene': 'NEK8', 'score': 10.99}, {'connected_gene': 'ENSG00000265840', 'score': 0.37}, {'connected_gene': 'RPL31P58', 'score': 0.29}]
chr17	GH17I028355	28355865	28358706	2.06	[{'connected_gene': 'TMEM199', 'score': 561.24}, {'connected_gene': 'POLDIP2', 'score': 550.77}, {'connected_gene': 'ENSG00000258924', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 28.82}, {'connected_gene': 'SARM1', 'score': 12.1}, {'connected_gene': 'ITM2BP1', 'score': 11.93}, {'connected_gene': 'PHF12', 'score': 11.83}, {'connected_gene': 'SLC46A1', 'score': 11.21}, {'connected_gene': 'NUFIP2', 'score': 10.75}, {'connected_gene': 'UNC119', 'score': 9.92}, {'connected_gene': 'PIGS', 'score': 9.92}, {'connected_gene': 'ENSG00000264577', 'score': 9.7}, {'connected_gene': 'VTN', 'score': 7.09}, {'connected_gene': 'TRAF4', 'score': 5.05}, {'connected_gene': 'PIR62966', 'score': 0.77}]
chr17	GH17I028323	28323955	28326871	0.94	[{'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.24}, {'connected_gene': 'TRAF4', 'score': 4.73}, {'connected_gene': 'GC17M029020', 'score': 0.77}, {'connected_gene': 'TMEM97', 'score': 0.44}]
chr17	GH17I028802	28802079	28802427	0.63	[{'connected_gene': 'GC17P028803', 'score': 550.77}, {'connected_gene': 'RPL31P58', 'score': 550.77}, {'connected_gene': 'TRAF4', 'score': 23.61}, {'connected_gene': 'ERAL1', 'score': 11.89}, {'connected_gene': 'FAM222B', 'score': 11.89}, {'connected_gene': 'FLOT2', 'score': 11.26}, {'connected_gene': 'PROCA1', 'score': 11.24}, {'connected_gene': 'DHRS13', 'score': 11.08}, {'connected_gene': 'ENSG00000265840', 'score': 0.23}]