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
ENST00000372133	[[43639039, 43639643], [43642938, 43643008], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655528]]	[[43639498, 43639643], [43642938, 43643008], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655516]]
ENST00000372116	[[43639246, 43639643], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655528]]	[[43639635, 43639643], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655516]]
ENST00000427312	[[43639520, 43639643], [43642938, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655528]]	[[43639520, 43639643], [43642938, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655516]]
NM_018135	[[43638933, 43639643], [43642938, 43643008], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655549]]	[[43639498, 43639643], [43642938, 43643008], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655516]]
NM_001193343	[[43638933, 43639643], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655549]]	[[43639635, 43639643], [43643230, 43643354], [43646254, 43646362], [43648825, 43648857], [43655404, 43655516]]

Promoter

Chrom	Start	End	Description
chr6	43655511	43655545	CAGE_peak_1_at_MRPS18A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I043694	43694385	43697111	1.12	[{'connected_gene': 'VEGFA', 'score': 11.38}, {'connected_gene': 'RSPH9', 'score': 11.11}, {'connected_gene': 'MAD2L1BP', 'score': 11.09}, {'connected_gene': 'GTPBP2', 'score': 11.09}, {'connected_gene': 'DNPH1', 'score': 4.55}, {'connected_gene': 'GC06P043698', 'score': 0.77}, {'connected_gene': 'MRPS18A', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6	GH06I043717	43717844	43717993	0.58	[{'connected_gene': 'MRPS18A', 'score': 11.22}, {'connected_gene': 'NFKBIE', 'score': 9.78}, {'connected_gene': 'SLC35B2', 'score': 9.77}, {'connected_gene': 'LOC100132242', 'score': 0.39}, {'connected_gene': 'ENSG00000236961', 'score': 0.37}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6	GH06I043708	43708647	43710624	1.18	[{'connected_gene': 'MRPS18A', 'score': 11.77}, {'connected_gene': 'RSPH9', 'score': 11.17}, {'connected_gene': 'MAD2L1BP', 'score': 11.14}, {'connected_gene': 'GTPBP2', 'score': 11.14}, {'connected_gene': 'LOC100132242', 'score': 0.77}, {'connected_gene': 'ENSG00000236961', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6	GH06I043712	43712442	43713190	0.38	[{'connected_gene': 'MRPS18A', 'score': 11.74}, {'connected_gene': 'RSPH9', 'score': 11.17}, {'connected_gene': 'MAD2L1BP', 'score': 11.14}, {'connected_gene': 'GTPBP2', 'score': 11.14}, {'connected_gene': 'LOC100132242', 'score': 0.44}, {'connected_gene': 'ENSG00000236961', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6	GH06I043686	43686810	43688634	2.24	[{'connected_gene': 'MRPS18A', 'score': 550.77}, {'connected_gene': 'MYMX', 'score': 12.58}, {'connected_gene': 'RSPH9', 'score': 10.57}, {'connected_gene': 'MAD2L1BP', 'score': 10.53}, {'connected_gene': 'GTPBP2', 'score': 10.53}, {'connected_gene': 'GC06M043677', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6	GH06I043683	43683924	43684417	0.84	[{'connected_gene': 'MRPS18A', 'score': 0.77}, {'connected_gene': 'GC06M043677', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6	GH06I043723	43723602	43726212	1.74	[{'connected_gene': 'GTPBP2', 'score': 40.08}, {'connected_gene': 'ABCC10', 'score': 29.2}, {'connected_gene': 'ZNF318', 'score': 25.3}, {'connected_gene': 'POLH', 'score': 25.05}, {'connected_gene': 'BICRAL', 'score': 22.74}, {'connected_gene': 'RPS2P29', 'score': 14.49}, {'connected_gene': 'RRP36', 'score': 12.64}, {'connected_gene': 'MAD2L1BP', 'score': 12.28}, {'connected_gene': 'VEGFA', 'score': 12.03}, {'connected_gene': 'MRPS18A', 'score': 11.59}, {'connected_gene': 'RSPH9', 'score': 11.2}, {'connected_gene': 'CAPN11', 'score': 10.28}, {'connected_gene': 'TJAP1', 'score': 10.23}, {'connected_gene': 'CUL7', 'score': 10.19}, {'connected_gene': 'SLC35B2', 'score': 9.93}, {'connected_gene': 'NFKBIE', 'score': 9.93}, {'connected_gene': 'KLHDC3', 'score': 4.91}, {'connected_gene': 'ENSG00000236961', 'score': 0.39}, {'connected_gene': 'LOC100132242', 'score': 0.37}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6	GH06I043910	43910264	43918680	1.78	[{'connected_gene': 'GTPBP2', 'score': 34.85}, {'connected_gene': 'ZNF318', 'score': 32.06}, {'connected_gene': 'RPS2P29', 'score': 24.94}, {'connected_gene': 'CUL7', 'score': 24.21}, {'connected_gene': 'ABCC10', 'score': 21.48}, {'connected_gene': 'POLH', 'score': 20.73}, {'connected_gene': 'RPL24P4', 'score': 19.0}, {'connected_gene': 'RPL34P14', 'score': 18.59}, {'connected_gene': 'SLC35B2', 'score': 12.1}, {'connected_gene': 'RRP36', 'score': 10.74}, {'connected_gene': 'POLR1C', 'score': 10.12}, {'connected_gene': 'YIPF3', 'score': 10.03}, {'connected_gene': 'XPO5', 'score': 9.87}, {'connected_gene': 'AARS2', 'score': 9.6}, {'connected_gene': 'MRPS18A', 'score': 1.44}, {'connected_gene': 'LOC105375067', 'score': 0.39}, {'connected_gene': 'LINC01512', 'score': 0.34}, {'connected_gene': 'GC06M043993', 'score': 0.18}, {'connected_gene': 'GC06P043362', 'score': 0.03}]
chr6	GH06I043713	43713773	43717449	1.38	[{'connected_gene': 'ZNF318', 'score': 28.55}, {'connected_gene': 'XPO5', 'score': 23.15}, {'connected_gene': 'POLR1C', 'score': 19.94}, {'connected_gene': 'CDC5L', 'score': 12.71}, {'connected_gene': 'POLH', 'score': 12.16}, {'connected_gene': 'MRPS18A', 'score': 11.74}, {'connected_gene': 'RSPH9', 'score': 11.16}, {'connected_gene': 'MAD2L1BP', 'score': 11.13}, {'connected_gene': 'GTPBP2', 'score': 11.13}, {'connected_gene': 'RPL34P14', 'score': 9.96}, {'connected_gene': 'NFKBIE', 'score': 9.78}, {'connected_gene': 'SLC35B2', 'score': 9.77}, {'connected_gene': 'TMEM151B', 'score': 9.71}, {'connected_gene': 'LOC100132242', 'score': 0.44}, {'connected_gene': 'ENSG00000236961', 'score': 0.34}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6	GH06I043671	43671334	43672809	1.07	[{'connected_gene': 'RSPH9', 'score': 11.76}, {'connected_gene': 'MAD2L1BP', 'score': 11.6}, {'connected_gene': 'GTPBP2', 'score': 11.6}, {'connected_gene': 'VEGFA', 'score': 10.48}, {'connected_gene': 'GC06P043677', 'score': 0.44}, {'connected_gene': 'GC06P043678', 'score': 0.44}, {'connected_gene': 'MRPS18A', 'score': 0.37}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6	GH06I043673	43673141	43675839	0.49	[{'connected_gene': 'GC06P043677', 'score': 0.77}, {'connected_gene': 'GC06P043678', 'score': 0.77}, {'connected_gene': 'MRPS18A', 'score': 0.39}, {'connected_gene': 'RSPH9', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
chr6	GH06I043675	43675857	43682360	0.31	[{'connected_gene': 'GC06P043677', 'score': 550.77}, {'connected_gene': 'GC06P043678', 'score': 550.77}, {'connected_gene': 'GC06M043677', 'score': 550.77}, {'connected_gene': 'DNPH1', 'score': 4.8}, {'connected_gene': 'MRPS18A', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.06}]