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
ENST00000355221	[[54628116, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754285], [54755593, 54756118]]	[[54628523, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754250]]
ENST00000523343	[[54628232, 54628584], [54708206, 54708321]]	None
ENST00000520188	[[54628232, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54752184, 54752521]]	[[54628523, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745639]]
ENST00000359530	[[54628232, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754285], [54755593, 54755822]]	[[54628523, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754250]]
ENST00000523899	[[54628242, 54628584], [54656136, 54656250], [54682177, 54682248]]	None
ENST00000396774	[[54628290, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754285], [54755430, 54755602]]	[[54628523, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754250]]
ENST00000524164	[[54628459, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745620, 54745646], [54754137, 54754285], [54755593, 54755853]]	[[54742085, 54742093], [54745620, 54745646], [54754137, 54754250]]
ENST00000523426	[[54656146, 54656250], [54669114, 54669216], [54708206, 54708399], [54714358, 54714428]]	None
ENST00000518072	[[54628229, 54628584], [54656136, 54656275]]	None
ENST00000522159	[[54628232, 54628584], [54652112, 54652183]]	None
ENST00000521707	[[54668821, 54669216], [54682177, 54682303], [54684548, 54684625]]	None
ENST00000521900	[[54682213, 54682303], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730025]]	None
ENST00000522849	[[54708309, 54708399], [54714358, 54714456], [54719301, 54719418], [54723723, 54723777], [54727221, 54727326], [54729976, 54730063]]	[[54719403, 54719418], [54723723, 54723777], [54727221, 54727326], [54729976, 54730063]]
ENST00000521377	[[54727234, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745749]]	None
ENST00000519588	[[54727291, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745569], [54754184, 54754285], [54755593, 54755805]]	[[54742074, 54742093], [54745543, 54745569], [54754184, 54754250]]
ENST00000521275	[[54742003, 54742093], [54745543, 54745646], [54754137, 54754285], [54755515, 54755577]]	[[54742003, 54742093], [54745543, 54745646], [54754137, 54754250]]
ENST00000524234	[[54742005, 54742093], [54745543, 54745646], [54754137, 54754285], [54755063, 54755459]]	[[54742005, 54742093], [54745543, 54745646], [54754137, 54754250]]
ENST00000521335	[[54744348, 54745646], [54754137, 54754285], [54755593, 54755819]]	None
ENST00000519922	[[54745424, 54745646], [54752184, 54752398]]	None
NM_213620	[[54628102, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754285], [54755430, 54755602]]	[[54628523, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754250]]
NM_015941	[[54628102, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754285], [54755593, 54755871]]	[[54628523, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54723723, 54723777], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754250]]
NM_213619	[[54628102, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754285], [54755593, 54755871]]	[[54628523, 54628584], [54656136, 54656250], [54669114, 54669216], [54682177, 54682303], [54684548, 54684727], [54708206, 54708399], [54714358, 54714456], [54727221, 54727326], [54729976, 54730090], [54742003, 54742093], [54745543, 54745646], [54754137, 54754250]]

Promoter

Chrom	Start	End	Description
chr8	54745692	54745698	CAGE_peak_11_at_ATP6V1H_5end
chr8	54752406	54752429	CAGE_peak_5_at_ATP6V1H_5end
chr8	54755527	54755539	CAGE_peak_2_at_ATP6V1H_5end
chr8	54755789	54755876	CAGE_peak_1_at_ATP6V1H_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I054143	54143065	54144516	0.2	[{'connected_gene': 'RGS20', 'score': 10.01}, {'connected_gene': 'ATP6V1H', 'score': 9.96}, {'connected_gene': 'TCEA1', 'score': 6.28}, {'connected_gene': 'ENSG00000253369', 'score': 4.19}, {'connected_gene': 'MRPL15', 'score': 0.44}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.44}]
chr8	GH08I053851	53851746	53851805	0.84	[{'connected_gene': 'RGS20', 'score': 550.77}, {'connected_gene': 'ATP6V1H', 'score': 0.44}]
chr8	GH08I053747	53747324	53747551	0.22	[{'connected_gene': 'RGS20', 'score': 10.49}, {'connected_gene': 'GC08M053742', 'score': 0.77}, {'connected_gene': 'GC08M053723', 'score': 0.37}, {'connected_gene': 'ATP6V1H', 'score': 0.15}]
chr8	GH08I053734	53734300	53735388	0.87	[{'connected_gene': 'TCEA1', 'score': 3.99}, {'connected_gene': 'GC08M053723', 'score': 0.77}, {'connected_gene': 'GC08M053742', 'score': 0.37}, {'connected_gene': 'ATP6V1H', 'score': 0.14}]
chr8	GH08I053807	53807497	53808101	0.49	[{'connected_gene': 'ATP6V1H', 'score': 22.38}, {'connected_gene': 'RGS20', 'score': 10.74}, {'connected_gene': 'TCEA1', 'score': 10.43}, {'connected_gene': 'GC08P053812', 'score': 0.77}, {'connected_gene': 'GC08P053789', 'score': 0.37}]
chr8	GH08I054011	54011321	54011470	0.49	[{'connected_gene': 'ATP6V1H', 'score': 11.25}, {'connected_gene': 'RGS20', 'score': 10.8}, {'connected_gene': 'MRPL15', 'score': 10.77}, {'connected_gene': 'RNU6-1331P', 'score': 10.54}, {'connected_gene': 'GC08M054012', 'score': 0.77}, {'connected_gene': 'TCEA1', 'score': 0.39}, {'connected_gene': 'GC08P053986', 'score': 0.31}]
chr8	GH08I053815	53815481	53815590	0.49	[{'connected_gene': 'ATP6V1H', 'score': 11.43}, {'connected_gene': 'RGS20', 'score': 11.02}, {'connected_gene': 'GC08P053812', 'score': 0.77}, {'connected_gene': 'GC08P053833', 'score': 0.37}]
chr8	GH08I053867	53867572	53868442	0.31	[{'connected_gene': 'ATP6V1H', 'score': 12.13}, {'connected_gene': 'ENSG00000272457', 'score': 0.44}, {'connected_gene': 'RGS20', 'score': 0.37}]
chr8	GH08I054160	54159962	54160209	0.27	[{'connected_gene': 'ATP6V1H', 'score': 20.28}, {'connected_gene': 'MRPL15', 'score': 11.9}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.44}, {'connected_gene': 'GC08M054193', 'score': 0.29}]
chr8	GH08I054141	54141110	54141428	0.24	[{'connected_gene': 'ATP6V1H', 'score': 10.32}, {'connected_gene': 'MRPL15', 'score': 0.44}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.39}]
chr8	GH08I054159	54159121	54159270	0.71	[{'connected_gene': 'ATP6V1H', 'score': 25.09}, {'connected_gene': 'MRPL15', 'score': 11.9}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.44}, {'connected_gene': 'GC08M054193', 'score': 0.29}]
chr8	GH08I052973	52973057	52974792	0.52	[{'connected_gene': 'ATP6V1H', 'score': 9.77}, {'connected_gene': 'LOC101060191', 'score': 0.77}, {'connected_gene': 'GC08M052938', 'score': 0.29}]
chr8	GH08I052970	52970214	52972450	0.77	[{'connected_gene': 'ATP6V1H', 'score': 9.77}, {'connected_gene': 'LOC101060191', 'score': 0.77}, {'connected_gene': 'GC08M052938', 'score': 0.29}]
chr8	GH08I053841	53840927	53845661	2.27	[{'connected_gene': 'ATP6V1H', 'score': 558.15}, {'connected_gene': 'PIR33794', 'score': 550.77}, {'connected_gene': 'LOC100131254', 'score': 17.97}, {'connected_gene': 'LOC100507516', 'score': 9.81}]
chr8	GH08I053904	53904389	53907346	0.89	[{'connected_gene': 'ATP6V1H', 'score': 10.59}, {'connected_gene': 'GC08P053915', 'score': 0.44}, {'connected_gene': 'RPS27AP13', 'score': 0.37}, {'connected_gene': 'RGS20', 'score': 0.23}]
chr8	GH08I053723	53723716	53723890	0.39	[{'connected_gene': 'ATP6V1H', 'score': 10.43}, {'connected_gene': 'GC08M053723', 'score': 0.44}, {'connected_gene': 'LOC100129667', 'score': 0.39}]
chr8	GH08I053840	53839401	53839600	0.2	[{'connected_gene': 'ATP6V1H', 'score': 0.77}, {'connected_gene': 'PIR33794', 'score': 0.77}, {'connected_gene': 'GC08P053833', 'score': 0.44}]
chr8	GH08I053763	53763001	53763200	0.31	[{'connected_gene': 'ATP6V1H', 'score': 10.31}, {'connected_gene': 'GC08M053742', 'score': 0.39}, {'connected_gene': 'GC08P053789', 'score': 0.31}]
chr8	GH08I053760	53760201	53760450	0.8	[{'connected_gene': 'ATP6V1H', 'score': 10.31}, {'connected_gene': 'GC08M053742', 'score': 0.44}, {'connected_gene': 'GC08P053789', 'score': 0.31}]
chr8	GH08I053767	53767719	53768950	0.88	[{'connected_gene': 'ATP6V1H', 'score': 9.56}, {'connected_gene': 'GC08M053742', 'score': 0.37}, {'connected_gene': 'GC08P053789', 'score': 0.37}]
chr8	GH08I053402	53402669	53402797	0.22	[{'connected_gene': 'ATP6V1H', 'score': 4.74}, {'connected_gene': 'ENSG00000253369', 'score': 0.44}, {'connected_gene': 'GC08P053425', 'score': 0.34}]
chr8	GH08I054267	54267701	54269600	0.99	[{'connected_gene': 'ATP6V1H', 'score': 3.52}, {'connected_gene': 'ENSG00000253840', 'score': 0.34}, {'connected_gene': 'GC08M054298', 'score': 0.29}]
chr8	GH08I053765	53765666	53767412	0.2	[{'connected_gene': 'ATP6V1H', 'score': 13.96}, {'connected_gene': 'GC08M053742', 'score': 0.37}, {'connected_gene': 'GC08P053789', 'score': 0.34}]
chr8	GH08I053761	53761314	53762715	0.85	[{'connected_gene': 'ATP6V1H', 'score': 10.31}, {'connected_gene': 'GC08M053742', 'score': 0.39}, {'connected_gene': 'GC08P053789', 'score': 0.31}]
chr8	GH08I053839	53839801	53840600	0.31	[{'connected_gene': 'ATP6V1H', 'score': 0.77}, {'connected_gene': 'PIR33794', 'score': 0.77}, {'connected_gene': 'GC08P053833', 'score': 0.44}]
chr8	GH08I054165	54165441	54166400	1.23	[{'connected_gene': 'MRPL15', 'score': 11.5}, {'connected_gene': 'SOX17', 'score': 10.83}, {'connected_gene': 'ATP6V1H', 'score': 10.14}, {'connected_gene': 'TCEA1', 'score': 4.23}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.39}, {'connected_gene': 'GC08M054193', 'score': 0.31}]
chr8	GH08I054169	54169201	54170800	1.09	[{'connected_gene': 'MRPL15', 'score': 11.52}, {'connected_gene': 'SOX17', 'score': 11.27}, {'connected_gene': 'ATP6V1H', 'score': 10.14}, {'connected_gene': 'CHCHD2P10', 'score': 4.95}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.37}, {'connected_gene': 'GC08M054193', 'score': 0.34}]
chr8	GH08I054177	54177891	54180996	0.31	[{'connected_gene': 'MRPL15', 'score': 10.88}, {'connected_gene': 'RP1', 'score': 10.13}, {'connected_gene': 'ATP6V1H', 'score': 9.74}, {'connected_gene': 'GC08M054193', 'score': 0.39}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.31}]
chr8	GH08I053976	53976141	53976290	0.46	[{'connected_gene': 'RNU6-1331P', 'score': 11.2}, {'connected_gene': 'ATP6V1H', 'score': 10.54}, {'connected_gene': 'LOC100131254', 'score': 0.77}, {'connected_gene': 'GC08P053986', 'score': 0.39}, {'connected_gene': 'TCEA1', 'score': 0.25}]
chr8	GH08I054149	54149990	54155080	1.72	[{'connected_gene': 'RNU6ATAC32P', 'score': 550.77}, {'connected_gene': 'LOC100131254', 'score': 17.93}, {'connected_gene': 'ATP6V1H', 'score': 15.87}, {'connected_gene': 'TCEA1', 'score': 6.75}, {'connected_gene': 'MRPL15', 'score': 0.37}]
chr8	GH08I054211	54211563	54213190	0.96	[{'connected_gene': 'LOC100131254', 'score': 17.91}, {'connected_gene': 'MRPL15', 'score': 11.72}, {'connected_gene': 'ATP6V1H', 'score': 8.81}, {'connected_gene': 'GC08P054198', 'score': 0.39}, {'connected_gene': 'ENSG00000253840', 'score': 0.28}]
chr8	GH08I053972	53972417	53973119	0.52	[{'connected_gene': 'LOC100131254', 'score': 550.77}, {'connected_gene': 'RNU6-1331P', 'score': 11.31}, {'connected_gene': 'ATP6V1H', 'score': 10.55}, {'connected_gene': 'MRPL15', 'score': 10.28}, {'connected_gene': 'GC08P053986', 'score': 0.39}, {'connected_gene': 'TCEA1', 'score': 0.25}]
chr8	GH08I053985	53985581	53985750	0.2	[{'connected_gene': 'GC08P053986', 'score': 550.77}, {'connected_gene': 'TCEA1', 'score': 11.56}, {'connected_gene': 'ATP6V1H', 'score': 10.63}, {'connected_gene': 'LOC100131254', 'score': 0.39}]
chr8	GH08I053731	53731113	53732123	0.8	[{'connected_gene': 'GC08M053723', 'score': 550.77}, {'connected_gene': 'ATP6V1H', 'score': 4.63}, {'connected_gene': 'GC08M053742', 'score': 0.37}]
chr8	GH08I053732	53732225	53733432	0.84	[{'connected_gene': 'GC08M053723', 'score': 0.77}, {'connected_gene': 'GC08M053742', 'score': 0.37}, {'connected_gene': 'ATP6V1H', 'score': 0.14}]
chr8	GH08I054105	54105690	54107346	1.03	[{'connected_gene': 'PIR33175', 'score': 550.77}, {'connected_gene': 'MRPL15', 'score': 13.16}, {'connected_gene': 'TCEA1', 'score': 11.02}, {'connected_gene': 'RGS20', 'score': 10.02}, {'connected_gene': 'ATP6V1H', 'score': 1.4}, {'connected_gene': 'LYPLA1', 'score': 0.77}]
chr8	GH08I053729	53729961	53730110	0.2	[{'connected_gene': 'GC08M053723', 'score': 550.77}, {'connected_gene': 'LOC100129667', 'score': 0.37}, {'connected_gene': 'ATP6V1H', 'score': 0.14}]
chr8	GH08I053727	53727318	53728972	0.8	[{'connected_gene': 'GC08M053723', 'score': 0.77}, {'connected_gene': 'LOC100129667', 'score': 0.37}, {'connected_gene': 'ATP6V1H', 'score': 0.13}]