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
ENST00000445593	[[98787284, 98788336], [98817580, 98817692], [98827555, 98827629], [98828285, 98828408], [98831367, 98831466], [98837285, 98837381], [98863624, 98865241]]	[[98787964, 98788336], [98817580, 98817692], [98827555, 98827629], [98828285, 98828408], [98831367, 98831466], [98837285, 98837381], [98863624, 98863702]]
ENST00000521545	[[98788003, 98788336], [98817580, 98817692], [98827555, 98827629], [98828285, 98828408], [98831367, 98831466], [98837285, 98837381], [98863624, 98863702]]	[[98788237, 98788336], [98817580, 98817692], [98827555, 98827629], [98828285, 98828408], [98831367, 98831466], [98837285, 98837381], [98863624, 98863702]]
ENST00000517924	[[98788076, 98788336], [98817580, 98817692], [98827531, 98827629], [98828285, 98828408], [98831367, 98831392]]	[[98788076, 98788336], [98817580, 98817692], [98827531, 98827629], [98828285, 98828408], [98831367, 98831392]]
NM_018407	[[98787808, 98788336], [98817580, 98817692], [98827555, 98827629], [98828285, 98828408], [98831367, 98831466], [98837285, 98837381], [98863624, 98864830]]	[[98787964, 98788336], [98817580, 98817692], [98827555, 98827629], [98828285, 98828408], [98831367, 98831466], [98837285, 98837381], [98863624, 98863702]]

Promoter

Chrom	Start	End	Description
chr8	98788003	98788054	CAGE_peak_1_at_LAPTM4B_5end
chr8	98788057	98788073	CAGE_peak_2_at_LAPTM4B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I098001	98001373	98002814	1.05	[{'connected_gene': 'RPS23P1', 'score': 11.19}, {'connected_gene': 'MATN2', 'score': 11.19}, {'connected_gene': 'ERICH5', 'score': 10.76}, {'connected_gene': 'ENSG00000202399', 'score': 10.26}, {'connected_gene': 'LAPTM4B', 'score': 10.26}, {'connected_gene': 'ENSG00000245970', 'score': 5.03}, {'connected_gene': 'GC08P097993', 'score': 0.44}, {'connected_gene': 'GC08M098021', 'score': 0.34}, {'connected_gene': 'GC08P097916', 'score': 0.17}]
chr8	GH08I097597	97597801	97599200	0.74	[{'connected_gene': 'MTDH', 'score': 12.11}, {'connected_gene': 'LAPTM4B', 'score': 4.34}, {'connected_gene': 'RPS2P33', 'score': 0.31}, {'connected_gene': 'LOC105375657', 'score': 0.17}]
chr8	GH08I097606	97606894	97607811	0.69	[{'connected_gene': 'MTDH', 'score': 16.14}, {'connected_gene': 'LAPTM4B', 'score': 10.18}, {'connected_gene': 'ENSG00000202399', 'score': 10.17}, {'connected_gene': 'RPS2P33', 'score': 0.37}, {'connected_gene': 'LOC105375657', 'score': 0.16}]
chr8	GH08I097642	97642693	97647994	2.05	[{'connected_gene': 'MTDH', 'score': 565.42}, {'connected_gene': 'ENSG00000245970', 'score': 16.75}, {'connected_gene': 'LAPTM4B', 'score': 10.01}, {'connected_gene': 'ENSG00000202399', 'score': 10.01}, {'connected_gene': 'GC08P097773', 'score': 0.13}]
chr8	GH08I097756	97756349	97757577	0.2	[{'connected_gene': 'MTDH', 'score': 6.66}, {'connected_gene': 'LAPTM4B', 'score': 4.9}, {'connected_gene': 'GC08P097773', 'score': 0.37}]
chr8	GH08I098068	98068753	98068942	0.89	[{'connected_gene': 'RPL30', 'score': 11.53}, {'connected_gene': 'SNORA72', 'score': 11.06}, {'connected_gene': 'ENSG00000245970', 'score': 11.06}, {'connected_gene': 'RPS23P1', 'score': 9.94}, {'connected_gene': 'MATN2', 'score': 9.94}, {'connected_gene': 'ENSG00000202399', 'score': 9.31}, {'connected_gene': 'LAPTM4B', 'score': 9.31}, {'connected_gene': 'RNU6-914P', 'score': 8.8}, {'connected_gene': 'ERICH5', 'score': 0.77}, {'connected_gene': 'GC08P098099', 'score': 0.29}, {'connected_gene': 'GC08P097993', 'score': 0.18}]
chr8	GH08I097834	97834458	97836082	0.52	[{'connected_gene': 'LAPTM4B', 'score': 29.98}, {'connected_gene': 'ENSG00000202399', 'score': 11.22}, {'connected_gene': 'RPS23P1', 'score': 10.86}, {'connected_gene': 'MATN2', 'score': 10.84}, {'connected_gene': 'MTDH', 'score': 9.72}, {'connected_gene': 'PIR33604', 'score': 0.39}, {'connected_gene': 'GC08M097844', 'score': 0.39}]
chr8	GH08I097829	97829671	97829710	0.24	[{'connected_gene': 'LAPTM4B', 'score': 29.03}, {'connected_gene': 'ENSG00000202399', 'score': 11.28}, {'connected_gene': 'RPS23P1', 'score': 10.8}, {'connected_gene': 'MATN2', 'score': 10.8}, {'connected_gene': 'RPL30', 'score': 10.18}, {'connected_gene': 'SNORA72', 'score': 10.18}, {'connected_gene': 'ENSG00000245970', 'score': 10.18}, {'connected_gene': 'ERICH5', 'score': 9.86}, {'connected_gene': 'POP1', 'score': 2.67}, {'connected_gene': 'PIR33604', 'score': 0.44}, {'connected_gene': 'GC08M097844', 'score': 0.37}]
chr8	GH08I097763	97763056	97764838	1.18	[{'connected_gene': 'LAPTM4B', 'score': 12.13}, {'connected_gene': 'GC08P097773', 'score': 0.44}, {'connected_gene': 'MTDH', 'score': 0.13}]
chr8	GH08I097760	97760818	97762322	0.6	[{'connected_gene': 'LAPTM4B', 'score': 5.38}, {'connected_gene': 'GC08P097773', 'score': 0.39}, {'connected_gene': 'MTDH', 'score': 0.13}]
chr8	GH08I097774	97774673	97779673	2.29	[{'connected_gene': 'LAPTM4B', 'score': 563.86}, {'connected_gene': 'MTDH', 'score': 4.82}, {'connected_gene': 'ENSG00000270682', 'score': 0.39}]
chr8	GH08I097649	97649601	97649800	0.69	[{'connected_gene': 'LAPTM4B', 'score': 10.01}, {'connected_gene': 'ENSG00000202399', 'score': 10.01}, {'connected_gene': 'MTDH', 'score': 0.44}, {'connected_gene': 'GC08P097773', 'score': 0.13}]
chr8	GH08I097736	97736393	97736800	0.94	[{'connected_gene': 'LAPTM4B', 'score': 4.72}, {'connected_gene': 'GC08P097773', 'score': 0.28}, {'connected_gene': 'MTDH', 'score': 0.16}]
chr8	GH08I097830	97830481	97832493	0.98	[{'connected_gene': 'LAPTM4B', 'score': 30.1}, {'connected_gene': 'ENSG00000245970', 'score': 25.24}, {'connected_gene': 'RPL30', 'score': 21.63}, {'connected_gene': 'MATN2', 'score': 19.07}, {'connected_gene': 'ENSG00000202399', 'score': 11.28}, {'connected_gene': 'RPS23P1', 'score': 10.82}, {'connected_gene': 'SNORA72', 'score': 10.18}, {'connected_gene': 'ERICH5', 'score': 9.86}, {'connected_gene': 'POP1', 'score': 2.15}, {'connected_gene': 'PIR33604', 'score': 0.44}, {'connected_gene': 'GC08M097844', 'score': 0.39}]
chr8	GH08I097848	97848439	97850883	0.73	[{'connected_gene': 'LAPTM4B', 'score': 16.49}, {'connected_gene': 'MATN2', 'score': 7.34}, {'connected_gene': 'GC08M097854', 'score': 0.77}, {'connected_gene': 'GC08M097844', 'score': 0.77}]
chr8	GH08I097989	97989853	97991575	0.72	[{'connected_gene': 'LAPTM4B', 'score': 10.28}, {'connected_gene': 'ENSG00000202399', 'score': 10.28}, {'connected_gene': 'MATN2', 'score': 4.93}, {'connected_gene': 'GC08P097993', 'score': 0.77}, {'connected_gene': 'GC08M097916', 'score': 0.2}, {'connected_gene': 'GC08P097916', 'score': 0.19}]
chr8	GH08I097798	97797575	97800288	1.11	[{'connected_gene': 'LAPTM4B', 'score': 19.51}, {'connected_gene': 'MATN2', 'score': 5.72}, {'connected_gene': 'ENSG00000270682', 'score': 0.39}, {'connected_gene': 'PIR33604', 'score': 0.34}]
chr8	GH08I097795	97795832	97796539	0.31	[{'connected_gene': 'LAPTM4B', 'score': 10.19}, {'connected_gene': 'ENSG00000270682', 'score': 0.44}, {'connected_gene': 'PIR33604', 'score': 0.31}]
chr8	GH08I097804	97804801	97805202	0.71	[{'connected_gene': 'LAPTM4B', 'score': 20.9}, {'connected_gene': 'PIR33604', 'score': 0.37}, {'connected_gene': 'ENSG00000270682', 'score': 0.37}]
chr8	GH08I097818	97818213	97818865	0.58	[{'connected_gene': 'LAPTM4B', 'score': 20.21}, {'connected_gene': 'PIR33604', 'score': 0.77}, {'connected_gene': 'ENSG00000270682', 'score': 0.29}]
chr8	GH08I097790	97790607	97792402	0.69	[{'connected_gene': 'LAPTM4B', 'score': 11.0}, {'connected_gene': 'ENSG00000270682', 'score': 0.77}, {'connected_gene': 'PIR33604', 'score': 0.31}]
chr8	GH08I097797	97797015	97797520	0.31	[{'connected_gene': 'LAPTM4B', 'score': 10.47}, {'connected_gene': 'ENSG00000270682', 'score': 0.44}, {'connected_gene': 'PIR33604', 'score': 0.34}]
chr8	GH08I097779	97779693	97779776	0.43	[{'connected_gene': 'LAPTM4B', 'score': 0.77}, {'connected_gene': 'ENSG00000270682', 'score': 0.44}]
chr8	GH08I097889	97889998	97891702	0.75	[{'connected_gene': 'MATN2', 'score': 17.35}, {'connected_gene': 'RPS23P1', 'score': 12.76}, {'connected_gene': 'LAPTM4B', 'score': 10.42}, {'connected_gene': 'ENSG00000202399', 'score': 10.42}, {'connected_gene': 'ERICH5', 'score': 10.41}, {'connected_gene': 'GC08P097916', 'score': 0.31}]
chr8	GH08I097972	97972933	97973082	0.57	[{'connected_gene': 'MATN2', 'score': 11.02}, {'connected_gene': 'RPS23P1', 'score': 11.01}, {'connected_gene': 'LAPTM4B', 'score': 9.91}, {'connected_gene': 'ENSG00000202399', 'score': 9.91}, {'connected_gene': 'GC08P097993', 'score': 0.34}, {'connected_gene': 'GC08M097916', 'score': 0.23}, {'connected_gene': 'GC08P097916', 'score': 0.22}]
chr8	GH08I097994	97994773	97997558	0.89	[{'connected_gene': 'MATN2', 'score': 16.39}, {'connected_gene': 'RPS23P1', 'score': 11.19}, {'connected_gene': 'ERICH5', 'score': 10.75}, {'connected_gene': 'ENSG00000202399', 'score': 10.26}, {'connected_gene': 'LAPTM4B', 'score': 10.26}, {'connected_gene': 'ENSG00000245970', 'score': 4.4}, {'connected_gene': 'GC08P097993', 'score': 0.77}, {'connected_gene': 'GC08M098021', 'score': 0.31}, {'connected_gene': 'GC08P097916', 'score': 0.18}]
chr8	GH08I098024	98024196	98025792	0.31	[{'connected_gene': 'GC08M098021', 'score': 550.77}, {'connected_gene': 'RPS23P1', 'score': 11.22}, {'connected_gene': 'MATN2', 'score': 11.22}, {'connected_gene': 'ENSG00000202399', 'score': 9.55}, {'connected_gene': 'LAPTM4B', 'score': 9.55}, {'connected_gene': 'GC08M098007', 'score': 0.44}, {'connected_gene': 'RPL30', 'score': 0.34}, {'connected_gene': 'GC08P097993', 'score': 0.29}, {'connected_gene': 'GC08P097916', 'score': 0.14}]
chr8	GH08I097787	97787817	97788801	0.77	[{'connected_gene': 'ENSG00000270682', 'score': 550.77}, {'connected_gene': 'RPS23P1', 'score': 10.53}, {'connected_gene': 'MATN2', 'score': 10.52}, {'connected_gene': 'LAPTM4B', 'score': 0.39}]
chr8	GH08I097846	97846805	97848113	0.63	[{'connected_gene': 'GC08M097844', 'score': 550.77}, {'connected_gene': 'LAPTM4B', 'score': 26.13}, {'connected_gene': 'ENSG00000202399', 'score': 10.62}, {'connected_gene': 'ERICH5', 'score': 9.9}, {'connected_gene': 'MATN2', 'score': 7.5}, {'connected_gene': 'GC08M097854', 'score': 0.44}]
chr8	GH08I097786	97786578	97787432	0.31	[{'connected_gene': 'ENSG00000270682', 'score': 550.77}, {'connected_gene': 'LAPTM4B', 'score': 12.25}]
chr8	GH08I097822	97822113	97822262	0.69	[{'connected_gene': 'PIR33604', 'score': 550.77}, {'connected_gene': 'ENSG00000245970', 'score': 19.5}, {'connected_gene': 'GC08M097844', 'score': 0.34}, {'connected_gene': 'LAPTM4B', 'score': 0.25}]
chr8	GH08I097844	97844413	97844562	0.31	[{'connected_gene': 'GC08M097844', 'score': 550.77}, {'connected_gene': 'MATN2', 'score': 18.45}, {'connected_gene': 'RPS23P1', 'score': 11.48}, {'connected_gene': 'ERICH5', 'score': 10.46}, {'connected_gene': 'PIR33604', 'score': 0.34}, {'connected_gene': 'LAPTM4B', 'score': 0.2}]
chr8	GH08I097783	97783058	97786351	1	[{'connected_gene': 'ENSG00000245970', 'score': 49.99}, {'connected_gene': 'POP1', 'score': 11.82}, {'connected_gene': 'LAPTM4B', 'score': 7.98}, {'connected_gene': 'ENSG00000270682', 'score': 0.77}]
chr8	GH08I097853	97853742	97854012	0.34	[{'connected_gene': 'GC08M097854', 'score': 550.77}, {'connected_gene': 'LOC100127982', 'score': 550.77}, {'connected_gene': 'LAPTM4B', 'score': 6.98}]