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
ENST00000482487	[[50069745, 50070231], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095169]]	None
ENST00000481509	[[50069800, 50070231], [50087194, 50087302], [50092153, 50092196]]	None
ENST00000378319	[[50070096, 50070231], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50103123]]	[[50070137, 50070231], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50102801]]
ENST00000496623	[[50070105, 50070231], [50080770, 50080892], [50087194, 50087302], [50092153, 50092970]]	None
ENST00000467763	[[50070119, 50070231], [50071191, 50071353], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096196]]	None
ENST00000476953	[[50070148, 50070231], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50095273, 50095636], [50096178, 50096224]]	None
ENST00000426879	[[50070151, 50070231], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50102844]]	[[50070151, 50070231], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50102801]]
ENST00000487433	[[50070371, 50070584], [50071191, 50071353], [50087194, 50087302], [50092153, 50092287]]	None
ENST00000496612	[[50070490, 50070736], [50071191, 50071353], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097343]]	[[50071341, 50071353], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097343]]
ENST00000357596	[[50070527, 50070618], [50071191, 50071353], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50103117]]	[[50080793, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50102801]]
ENST00000485919	[[50070532, 50070618], [50071191, 50071353], [50080770, 50080892], [50087194, 50087302], [50092153, 50092241]]	[[50080793, 50080892], [50087194, 50087302], [50092153, 50092241]]
ENST00000465045	[[50070532, 50070618], [50071191, 50071353], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50099908, 50100073], [50100522, 50100594], [50102646, 50103112]]	[[50080793, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50099908, 50099937]]
ENST00000442195	[[50070535, 50070618], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097361]]	[[50080793, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097361]]
ENST00000488958	[[50071248, 50071353], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50103112]]	[[50080793, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50102801]]
ENST00000495157	[[50096064, 50096243], [50097310, 50097377], [50098220, 50098352], [50099908, 50100073], [50100522, 50100594], [50102646, 50102672]]	None
ENST00000460489	[[50096072, 50096243], [50097310, 50098216]]	None
ENST00000488605	[[50096091, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50101341, 50101490]]	None
ENST00000486276	[[50100324, 50100594], [50102646, 50103112]]	None
NR_135322	[[50069745, 50070231], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50103128]]	None
NM_001040443	[[50069745, 50070231], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50103128]]	[[50070137, 50070231], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50102801]]
NR_135323	[[50070482, 50070618], [50071191, 50071353], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50099908, 50100073], [50100522, 50100594], [50102646, 50103128]]	None
NM_001040444	[[50071191, 50071353], [50080770, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50103128]]	[[50080793, 50080892], [50087194, 50087302], [50092153, 50092287], [50095029, 50095076], [50096178, 50096243], [50097310, 50097377], [50098220, 50098352], [50100522, 50100594], [50102646, 50102801]]

Promoter

Chrom	Start	End	Description
chr13	50070077	50070150	CAGE_peak_1_at_PHF11_5end
chr13	50070525	50070538	CAGE_peak_8_at_PHF11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I049649	49649308	49653468	0.83	[{'connected_gene': 'EBPL', 'score': 28.28}, {'connected_gene': 'ARL11', 'score': 13.05}, {'connected_gene': 'KPNA3', 'score': 10.96}, {'connected_gene': 'PHF11', 'score': 10.55}, {'connected_gene': 'RCBTB1', 'score': 5.97}, {'connected_gene': 'GC13M049652', 'score': 0.77}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13	GH13I049442	49442897	49448355	2.47	[{'connected_gene': 'SETDB2', 'score': 562.96}, {'connected_gene': 'CAB39L', 'score': 561.63}, {'connected_gene': 'PHF11', 'score': 23.78}, {'connected_gene': 'ARL11', 'score': 10.83}, {'connected_gene': 'EBPL', 'score': 6.37}, {'connected_gene': 'SNRPGP14', 'score': 0.26}, {'connected_gene': 'GC13P049390', 'score': 0.22}]
chr13	GH13I049451	49451571	49451630	0.5	[{'connected_gene': 'SETDB2', 'score': 550.44}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'CAB39L', 'score': 0.44}, {'connected_gene': 'SNRPGP14', 'score': 0.28}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13	GH13I049453	49453294	49455321	0.92	[{'connected_gene': 'SETDB2', 'score': 14.8}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'KPNA3', 'score': 9.36}, {'connected_gene': 'RCBTB1', 'score': 4.85}, {'connected_gene': 'CAB39L', 'score': 0.39}, {'connected_gene': 'SNRPGP14', 'score': 0.29}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13	GH13I049465	49465905	49467186	0.76	[{'connected_gene': 'SETDB2', 'score': 13.79}, {'connected_gene': 'PHF11', 'score': 11.34}, {'connected_gene': 'SNRPGP14', 'score': 0.34}, {'connected_gene': 'CAB39L', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.18}]
chr13	GH13I049041	49041811	49042204	0.22	[{'connected_gene': 'SETDB2', 'score': 3.18}, {'connected_gene': 'FNDC3A', 'score': 3.01}, {'connected_gene': 'PHF11', 'score': 2.79}, {'connected_gene': 'CAB39L', 'score': 1.38}, {'connected_gene': 'RAD17P2', 'score': 0.77}, {'connected_gene': 'RNU6-60P', 'score': 0.23}]
chr13	GH13I049400	49400932	49402134	1.66	[{'connected_gene': 'CAB39L', 'score': 554.78}, {'connected_gene': 'PHF11', 'score': 11.0}, {'connected_gene': 'MLNR', 'score': 10.89}, {'connected_gene': 'GC13P049413', 'score': 0.39}, {'connected_gene': 'GC13P049390', 'score': 0.39}]
chr13	GH13I049624	49624858	49626854	1	[{'connected_gene': 'RCBTB1', 'score': 12.33}, {'connected_gene': 'PHF11', 'score': 8.56}, {'connected_gene': 'ARL11', 'score': 0.77}, {'connected_gene': 'LOC105370204', 'score': 0.44}]
chr13	GH13I049569	49569605	49570958	0.69	[{'connected_gene': 'RCBTB1', 'score': 17.3}, {'connected_gene': 'PHF11', 'score': 11.7}, {'connected_gene': 'GC13P049390', 'score': 0.1}]
chr13	GH13I049539	49539245	49541347	1.15	[{'connected_gene': 'RCBTB1', 'score': 12.13}, {'connected_gene': 'PHF11', 'score': 10.05}, {'connected_gene': 'GC13P049390', 'score': 0.11}]
chr13	GH13I049559	49559795	49561459	0.74	[{'connected_gene': 'RCBTB1', 'score': 13.98}, {'connected_gene': 'PHF11', 'score': 10.82}, {'connected_gene': 'GC13P049390', 'score': 0.09}]
chr13	GH13I049606	49606801	49607814	0.96	[{'connected_gene': 'RCBTB1', 'score': 24.41}, {'connected_gene': 'ARL11', 'score': 13.34}, {'connected_gene': 'PHF11', 'score': 11.67}, {'connected_gene': 'EBPL', 'score': 10.42}, {'connected_gene': 'GC13P049617', 'score': 0.39}]
chr13	GH13I049551	49551001	49551800	0.2	[{'connected_gene': 'RCBTB1', 'score': 14.15}, {'connected_gene': 'ARL11', 'score': 8.51}, {'connected_gene': 'PHF11', 'score': 0.22}, {'connected_gene': 'GC13P049390', 'score': 0.1}]
chr13	GH13I049494	49494389	49500998	2.39	[{'connected_gene': 'PHF11', 'score': 564.24}, {'connected_gene': 'SETDB2', 'score': 27.92}, {'connected_gene': 'TRIM13', 'score': 12.87}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'EBPL', 'score': 10.61}, {'connected_gene': 'ARL11', 'score': 5.5}, {'connected_gene': 'RCBTB1', 'score': 0.17}, {'connected_gene': 'GC13P049390', 'score': 0.14}]
chr13	GH13I049520	49520055	49520336	0.42	[{'connected_gene': 'PHF11', 'score': 26.48}, {'connected_gene': 'CAB39L', 'score': 2.3}, {'connected_gene': 'SETDB2', 'score': 1.32}, {'connected_gene': 'RCBTB1', 'score': 0.2}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13	GH13I049418	49418755	49419601	0.58	[{'connected_gene': 'PHF11', 'score': 6.1}, {'connected_gene': 'RCBTB1', 'score': 4.4}, {'connected_gene': 'GC13P049413', 'score': 0.44}, {'connected_gene': 'SETDB2', 'score': 0.34}, {'connected_gene': 'CAB39L', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.31}]
chr13	GH13I049640	49640976	49644200	1.31	[{'connected_gene': 'PHF11', 'score': 20.79}, {'connected_gene': 'RCBTB1', 'score': 13.03}, {'connected_gene': 'ARL11', 'score': 12.88}, {'connected_gene': 'EBPL', 'score': 11.77}, {'connected_gene': 'KPNA3', 'score': 10.65}, {'connected_gene': 'SETDB2', 'score': 10.26}, {'connected_gene': 'CAB39L', 'score': 4.77}, {'connected_gene': 'LOC105370205', 'score': 0.77}, {'connected_gene': 'GC13M049652', 'score': 0.39}]
chr13	GH13I049511	49511990	49513265	0.49	[{'connected_gene': 'PHF11', 'score': 18.62}, {'connected_gene': 'RCBTB1', 'score': 11.68}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13	GH13I049514	49514545	49516403	0.2	[{'connected_gene': 'PHF11', 'score': 14.84}, {'connected_gene': 'RCBTB1', 'score': 11.68}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13	GH13I049533	49533688	49534502	0.4	[{'connected_gene': 'PHF11', 'score': 19.88}, {'connected_gene': 'RCBTB1', 'score': 6.7}, {'connected_gene': 'GC13P049390', 'score': 0.11}]
chr13	GH13I049529	49529919	49531628	0.86	[{'connected_gene': 'PHF11', 'score': 19.94}, {'connected_gene': 'RCBTB1', 'score': 7.47}, {'connected_gene': 'GC13P049390', 'score': 0.11}]
chr13	GH13I049298	49298980	49299954	0.49	[{'connected_gene': 'MLNR', 'score': 11.28}, {'connected_gene': 'PHF11', 'score': 10.76}, {'connected_gene': 'CDADC1', 'score': 10.5}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13P049390', 'score': 0.16}]
chr13	GH13I049627	49627772	49630549	1.8	[{'connected_gene': 'ARL11', 'score': 563.09}, {'connected_gene': 'RCBTB1', 'score': 10.22}, {'connected_gene': 'PHF11', 'score': 7.91}, {'connected_gene': 'CAB39L', 'score': 4.47}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13	GH13I050105	50105791	50107931	0.92	[{'connected_gene': 'DLEU1', 'score': 12.6}, {'connected_gene': 'KCNRG', 'score': 11.52}, {'connected_gene': 'DLEU7-AS1', 'score': 10.23}, {'connected_gene': 'DLEU7', 'score': 9.71}, {'connected_gene': 'PHF11', 'score': 4.07}, {'connected_gene': 'ENSG00000273541', 'score': 0.77}, {'connected_gene': 'DLEU2', 'score': 0.37}]
chr13	GH13I049653	49653585	49653772	0.31	[{'connected_gene': 'GC13M049652', 'score': 550.77}, {'connected_gene': 'GC13P049655', 'score': 550.77}, {'connected_gene': 'ARL11', 'score': 13.03}, {'connected_gene': 'EBPL', 'score': 11.76}, {'connected_gene': 'KPNA3', 'score': 10.7}, {'connected_gene': 'PHF11', 'score': 10.55}, {'connected_gene': 'LOC105370205', 'score': 0.39}]