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
ENST00000340124	[[46918289, 46918379], [46918605, 46918870], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46965209]]	[[46918627, 46918870], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46962909]]
ENST00000562132	[[46918606, 46918636], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943786]]	[[46918627, 46918636], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943786]]
ENST00000440783	[[46918746, 46919243], [46919378, 46919489], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46965200]]	[[46931616, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46962909]]
ENST00000562801	[[46949209, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46962919]]	None
ENST00000569193	[[46957744, 46958456], [46960836, 46960949], [46962818, 46965198]]	None
NM_133443	[[46918291, 46918379], [46918605, 46918870], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46965209]]	[[46918627, 46918870], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46962909]]
NM_001142466	[[46919025, 46919243], [46919378, 46919489], [46931559, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46965209]]	[[46931616, 46931649], [46934593, 46934702], [46940753, 46940887], [46943595, 46943839], [46950539, 46950619], [46952532, 46952669], [46956153, 46956328], [46958300, 46958456], [46960836, 46960949], [46962818, 46962909]]

Promoter

Chrom	Start	End	Description
chr16	46918235	46918337	CAGE_peak_1_at_GPT2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I046863	46863437	46863938	0.46	[{'connected_gene': 'MYLK3', 'score': 10.24}, {'connected_gene': 'ENSG00000261725', 'score': 0.39}, {'connected_gene': 'GPT2', 'score': 0.34}]
chr16	GH16I046746	46746478	46750226	1.76	[{'connected_gene': 'MYLK3', 'score': 566.38}, {'connected_gene': 'SHCBP1', 'score': 13.34}, {'connected_gene': 'ORC6', 'score': 11.25}, {'connected_gene': 'VPS35', 'score': 11.25}, {'connected_gene': 'GPT2', 'score': 3.82}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16	GH16I046735	46735361	46738937	0.38	[{'connected_gene': 'MYLK3', 'score': 12.11}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'SHCBP1', 'score': 11.3}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16P046705', 'score': 0.29}, {'connected_gene': 'GC16M046768', 'score': 0.28}]
chr16	GH16I046862	46862715	46863216	0.74	[{'connected_gene': 'GPT2', 'score': 12.02}, {'connected_gene': 'MYLK3', 'score': 10.24}, {'connected_gene': 'ENSG00000261725', 'score': 0.39}]
chr16	GH16I046882	46882074	46888251	2.29	[{'connected_gene': 'GPT2', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 21.16}, {'connected_gene': 'SHCBP1', 'score': 12.16}, {'connected_gene': 'ANKRD26P1', 'score': 3.87}, {'connected_gene': 'GC16P046894', 'score': 0.44}]
chr16	GH16I046910	46910369	46916239	0.74	[{'connected_gene': 'GPT2', 'score': 12.68}, {'connected_gene': 'SHCBP1', 'score': 11.76}, {'connected_gene': 'ENSG00000261131', 'score': 11.28}, {'connected_gene': 'GC16M046921', 'score': 0.39}, {'connected_gene': 'GC16P046894', 'score': 0.37}]
chr16	GH16I046859	46859352	46860825	1.04	[{'connected_gene': 'GPT2', 'score': 12.02}, {'connected_gene': 'SHCBP1', 'score': 9.05}, {'connected_gene': 'ENSG00000261725', 'score': 0.44}]
chr16	GH16I046836	46836801	46837400	0.46	[{'connected_gene': 'GPT2', 'score': 11.47}, {'connected_gene': 'ORC6', 'score': 11.11}, {'connected_gene': 'VPS35', 'score': 11.11}, {'connected_gene': 'MYLK3', 'score': 10.6}, {'connected_gene': 'C16orf87', 'score': 0.44}, {'connected_gene': 'CKBP1', 'score': 0.44}]
chr16	GH16I046909	46909311	46910352	0.49	[{'connected_gene': 'GPT2', 'score': 12.68}, {'connected_gene': 'GC16P046894', 'score': 0.37}, {'connected_gene': 'GC16M046921', 'score': 0.37}]
chr16	GH16I046908	46908949	46909138	0.89	[{'connected_gene': 'GPT2', 'score': 12.7}, {'connected_gene': 'GC16P046894', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.37}]
chr16	GH16I046879	46879246	46879882	0.2	[{'connected_gene': 'GPT2', 'score': 0.77}, {'connected_gene': 'ENSG00000261725', 'score': 0.31}]
chr16	GH16I047459	47459225	47464187	2.26	[{'connected_gene': 'ITFG1', 'score': 550.77}, {'connected_gene': 'PHKB', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 22.99}, {'connected_gene': 'SIAH1', 'score': 11.22}, {'connected_gene': 'SHCBP1', 'score': 4.89}, {'connected_gene': 'GPT2', 'score': 4.44}, {'connected_gene': 'LONP2', 'score': 4.0}]
chr16	GH16I046864	46863976	46865111	1.31	[{'connected_gene': 'SHCBP1', 'score': 12.34}, {'connected_gene': 'MYLK3', 'score': 10.24}, {'connected_gene': 'ENSG00000261725', 'score': 0.39}, {'connected_gene': 'GPT2', 'score': 0.37}]
chr16	GH16I046745	46745590	46746299	0.43	[{'connected_gene': 'SHCBP1', 'score': 12.12}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'MYLK3', 'score': 0.26}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16	GH16I046751	46751259	46754116	0.49	[{'connected_gene': 'SHCBP1', 'score': 11.66}, {'connected_gene': 'GPT2', 'score': 4.71}, {'connected_gene': 'GC16M046768', 'score': 0.34}, {'connected_gene': 'MYLK3', 'score': 0.28}, {'connected_gene': 'GC16P046705', 'score': 0.25}]
chr16	GH16I046632	46632801	46633971	0.98	[{'connected_gene': 'SHCBP1', 'score': 12.07}, {'connected_gene': 'GPT2', 'score': 4.24}, {'connected_gene': 'RAB43P1', 'score': 0.44}, {'connected_gene': 'ENSG00000260909', 'score': 0.37}, {'connected_gene': 'GC16P046596', 'score': 0.28}, {'connected_gene': 'GC16P046597', 'score': 0.28}]
chr16	GH16I046905	46905683	46908825	0.71	[{'connected_gene': 'SHCBP1', 'score': 13.34}, {'connected_gene': 'GPT2', 'score': 12.7}, {'connected_gene': 'GC16P046894', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.37}]
chr16	GH16I046890	46890001	46890200	0.51	[{'connected_gene': 'SHCBP1', 'score': 12.32}, {'connected_gene': 'GC16P046894', 'score': 0.77}, {'connected_gene': 'GPT2', 'score': 0.44}]
chr16	GH16I046917	46917330	46921294	1.13	[{'connected_gene': 'SHCBP1', 'score': 10.72}, {'connected_gene': 'GC16M046921', 'score': 0.44}, {'connected_gene': 'GC16P046894', 'score': 0.31}, {'connected_gene': 'GPT2', 'score': 0.29}]
chr16	GH16I046855	46855710	46856560	0.6	[{'connected_gene': 'SHCBP1', 'score': 12.51}, {'connected_gene': 'ENSG00000261725', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.31}]
chr16	GH16I046899	46899257	46900020	0.51	[{'connected_gene': 'SHCBP1', 'score': 13.2}, {'connected_gene': 'GC16P046894', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.37}, {'connected_gene': 'GC16M046921', 'score': 0.31}]
chr16	GH16I046875	46875886	46877348	1.14	[{'connected_gene': 'SHCBP1', 'score': 13.08}, {'connected_gene': 'GPT2', 'score': 0.44}, {'connected_gene': 'ENSG00000261725', 'score': 0.31}]
chr16	GH16I046857	46857294	46859187	1	[{'connected_gene': 'SHCBP1', 'score': 12.17}, {'connected_gene': 'ANKRD26P1', 'score': 4.23}, {'connected_gene': 'ENSG00000261725', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.31}]
chr16	GH16I046832	46832869	46833018	0.71	[{'connected_gene': 'C16orf87', 'score': 550.77}, {'connected_gene': 'ORC6', 'score': 11.11}, {'connected_gene': 'VPS35', 'score': 11.11}, {'connected_gene': 'GPT2', 'score': 11.06}, {'connected_gene': 'CKBP1', 'score': 0.39}]
chr16	GH16I046686	46686163	46691941	2.06	[{'connected_gene': 'ORC6', 'score': 550.77}, {'connected_gene': 'VPS35', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.88}, {'connected_gene': 'SHCBP1', 'score': 12.64}, {'connected_gene': 'ENSG00000261131', 'score': 12.39}, {'connected_gene': 'MYLK3', 'score': 10.89}, {'connected_gene': 'ANKRD26P1', 'score': 5.78}, {'connected_gene': 'ENSG00000280376', 'score': 0.37}]
chr16	GH16I046809	46809601	46810200	0.38	[{'connected_gene': 'ORC6', 'score': 11.03}, {'connected_gene': 'VPS35', 'score': 11.03}, {'connected_gene': 'GPT2', 'score': 10.27}, {'connected_gene': 'GC16P046804', 'score': 0.44}, {'connected_gene': 'C16orf87', 'score': 0.34}]
chr16	GH16I046843	46843923	46845162	0.38	[{'connected_gene': 'CKBP1', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.23}, {'connected_gene': 'VPS35', 'score': 11.23}, {'connected_gene': 'MYLK3', 'score': 10.91}, {'connected_gene': 'C16orf87', 'score': 0.39}]
chr16	GH16I047034	47033330	47033479	0.38	[{'connected_gene': 'DNAJA2', 'score': 11.7}, {'connected_gene': 'GPT2', 'score': 10.45}, {'connected_gene': 'GC16M047034', 'score': 0.77}, {'connected_gene': 'ENSG00000259983', 'score': 0.37}, {'connected_gene': 'ENSG00000259821', 'score': 0.31}]
chr16	GH16I046695	46695807	46698128	0.43	[{'connected_gene': 'PIR35721', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.29}, {'connected_gene': 'MYLK3', 'score': 10.81}, {'connected_gene': 'ORC6', 'score': 0.44}]
chr16	GH16I046927	46927692	46928250	0.51	[{'connected_gene': 'GC16M046921', 'score': 0.77}, {'connected_gene': 'GPT2', 'score': 0.26}, {'connected_gene': 'DNAJA2', 'score': 0.25}]
chr16	GH16I046903	46903136	46904908	0.54	[{'connected_gene': 'GC16P046894', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.37}, {'connected_gene': 'GC16M046921', 'score': 0.34}]
chr16	GH16I046889	46889274	46889784	0.38	[{'connected_gene': 'GC16P046894', 'score': 0.77}, {'connected_gene': 'GPT2', 'score': 0.44}]
chr16	GH16I046856	46855489	46855578	0.76	[{'connected_gene': 'ENSG00000261725', 'score': 0.77}, {'connected_gene': 'GPT2', 'score': 0.31}]
chr16	GH16I046854	46854049	46854398	1.05	[{'connected_gene': 'ENSG00000261725', 'score': 0.77}, {'connected_gene': 'GPT2', 'score': 0.29}]
chr16	GH16I046922	46922409	46922558	0.4	[{'connected_gene': 'GC16M046921', 'score': 0.77}, {'connected_gene': 'GC16P046894', 'score': 0.31}, {'connected_gene': 'GPT2', 'score': 0.28}]
chr16	GH16I046923	46923553	46924649	0.63	[{'connected_gene': 'GC16M046921', 'score': 550.77}, {'connected_gene': 'GC16P046894', 'score': 0.31}, {'connected_gene': 'GPT2', 'score': 0.28}]
chr16	GH16I046900	46900320	46902194	0.49	[{'connected_gene': 'GC16P046894', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.37}, {'connected_gene': 'GC16M046921', 'score': 0.34}]
chr16	GH16I046893	46893689	46898529	1.31	[{'connected_gene': 'GC16P046894', 'score': 550.77}, {'connected_gene': 'SHCBP1', 'score': 11.8}, {'connected_gene': 'GPT2', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.31}]
chr16	GH16I047033	47033512	47034427	0.43	[{'connected_gene': 'GC16M047034', 'score': 550.77}, {'connected_gene': 'DNAJA2', 'score': 11.68}, {'connected_gene': 'GPT2', 'score': 10.45}, {'connected_gene': 'ENSG00000259983', 'score': 0.34}, {'connected_gene': 'ENSG00000259821', 'score': 0.31}]
chr16	GH16I046929	46929829	46929998	0.9	[{'connected_gene': 'GC16M046921', 'score': 0.44}, {'connected_gene': 'DNAJA2', 'score': 0.26}, {'connected_gene': 'GPT2', 'score': 0.25}]
chr16	GH16I046930	46929606	46929636	0.74	[{'connected_gene': 'GC16M046921', 'score': 0.77}, {'connected_gene': 'DNAJA2', 'score': 0.26}, {'connected_gene': 'GPT2', 'score': 0.25}]
chr16	GH16I047503	47503731	47505151	0.43	[{'connected_gene': 'PIR32661', 'score': 550.77}, {'connected_gene': 'RNA5SP425', 'score': 550.77}, {'connected_gene': 'ITFG1', 'score': 11.53}, {'connected_gene': 'PHKB', 'score': 11.53}, {'connected_gene': 'GPT2', 'score': 4.19}]