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
ENST00000355765	[[45553301, 45553452], [45564423, 45564766], [45565305, 45565431], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584804]]	[[45564442, 45564766], [45565305, 45565431], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584116]]
ENST00000553605	[[45553309, 45553452], [45564423, 45564736], [45565305, 45565431]]	[[45564442, 45564736], [45565305, 45565431]]
ENST00000556782	[[45553320, 45553452], [45564423, 45564936]]	None
ENST00000477626	[[45553320, 45553452], [45564423, 45564766], [45565305, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584804]]	None
ENST00000424478	[[45553330, 45553452], [45564423, 45564766], [45565305, 45565431], [45565626, 45565961], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584804]]	[[45564442, 45564766], [45565305, 45565431], [45565626, 45565635]]
ENST00000554439	[[45564423, 45564766], [45565305, 45565431], [45565626, 45565695], [45565798, 45565961], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584837]]	[[45564442, 45564766], [45565305, 45565431], [45565626, 45565635]]
ENST00000554429	[[45564441, 45564766], [45565305, 45565431], [45565626, 45565695], [45565798, 45565961], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579096, 45579196], [45579296, 45579423], [45579805, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584804]]	[[45564442, 45564766], [45565305, 45565431], [45565626, 45565635]]
ENST00000556353	[[45564648, 45564766], [45565305, 45565431], [45565626, 45566069]]	None
ENST00000554081	[[45565400, 45565431], [45565798, 45565961], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579096, 45579196], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45585485]]	[[45565400, 45565431], [45565798, 45565819]]
ENST00000557477	[[45566108, 45566208], [45571731, 45571899], [45577617, 45577725], [45578818, 45578983], [45579096, 45579196], [45579296, 45579379]]	[[45566108, 45566208], [45571731, 45571899], [45577617, 45577621]]
ENST00000554785	[[45578934, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45584799]]	None
ENST00000556718	[[45578945, 45579196], [45579296, 45579423], [45579751, 45579872]]	None
NM_017922	[[45553301, 45553452], [45564423, 45564766], [45565305, 45565431], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584804]]	[[45564442, 45564766], [45565305, 45565431], [45566089, 45566208], [45571731, 45571899], [45576653, 45576819], [45577617, 45577725], [45578818, 45578983], [45579296, 45579423], [45579751, 45580020], [45581520, 45581705], [45583385, 45583460], [45583696, 45583817], [45584059, 45584116]]

Promoter

Chrom	Start	End	Description
chr14	45553296	45553340	CAGE_peak_1_at_PRPF39_5end
chr14	45565517	45565522	CAGE_peak_2_at_PRPF39_5end
chr14	45565629	45565634	CAGE_peak_4_at_PRPF39_5end
chr14	45566102	45566108	CAGE_peak_3_at_PRPF39_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I045133	45133400	45137801	2.07	[{'connected_gene': 'FANCM', 'score': 578.21}, {'connected_gene': 'FKBP3', 'score': 550.77}, {'connected_gene': 'GC14M045133', 'score': 550.77}, {'connected_gene': 'PRPF39', 'score': 20.91}, {'connected_gene': 'ENSG00000212615', 'score': 11.05}, {'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'SNORD127', 'score': 10.41}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'MIS18BP1', 'score': 10.25}, {'connected_gene': 'LINC02302', 'score': 9.4}, {'connected_gene': 'GC14P045108', 'score': 0.31}, {'connected_gene': 'GC14P045107', 'score': 0.31}, {'connected_gene': 'GC14M044793', 'score': 0.26}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14	GH14I045249	45249054	45255005	2.34	[{'connected_gene': 'MIS18BP1', 'score': 572.75}, {'connected_gene': 'PRPF39', 'score': 14.33}, {'connected_gene': 'FANCM', 'score': 13.93}, {'connected_gene': 'KLHL28', 'score': 10.94}, {'connected_gene': 'C14orf28', 'score': 10.37}, {'connected_gene': 'GC14M044793', 'score': 0.19}, {'connected_gene': 'GC14M045228', 'score': 0.18}, {'connected_gene': 'GC14P045108', 'score': 0.11}, {'connected_gene': 'GC14P045107', 'score': 0.11}]
chr14	GH14I045049	45049055	45049107	0.22	[{'connected_gene': 'PRPF39', 'score': 1.8}, {'connected_gene': 'KLHL28', 'score': 0.44}, {'connected_gene': 'GC14P045074', 'score': 0.31}, {'connected_gene': 'TOGARAM1', 'score': 0.17}, {'connected_gene': 'GC14M044793', 'score': 0.13}, {'connected_gene': 'GC14P044911', 'score': 0.12}, {'connected_gene': 'GC14P044610', 'score': 0.05}, {'connected_gene': 'GC14P044609', 'score': 0.04}, {'connected_gene': 'GC14P044608', 'score': 0.04}, {'connected_gene': 'GC14P044549', 'score': 0.03}]
chr14	GH14I045123	45123176	45123528	0.22	[{'connected_gene': 'PRPF39', 'score': 2.13}, {'connected_gene': 'SNORD127', 'score': 0.39}, {'connected_gene': 'GC14M045133', 'score': 0.39}, {'connected_gene': 'FKBP3', 'score': 0.39}, {'connected_gene': 'GC14P045108', 'score': 0.37}, {'connected_gene': 'GC14P045107', 'score': 0.37}, {'connected_gene': 'GC14M044793', 'score': 0.22}, {'connected_gene': 'GC14P044911', 'score': 0.08}]
chr14	GH14I045094	45094382	45094441	0.5	[{'connected_gene': 'PRPF39', 'score': 550.39}, {'connected_gene': 'ENSG00000212615', 'score': 0.44}, {'connected_gene': 'GC14P045108', 'score': 0.39}, {'connected_gene': 'GC14P045107', 'score': 0.39}, {'connected_gene': 'GC14M044793', 'score': 0.18}, {'connected_gene': 'GC14P044911', 'score': 0.09}]
chr14	GH14I045138	45138282	45138663	0.34	[{'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'ENSG00000212615', 'score': 11.04}, {'connected_gene': 'PRPF39', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'SNORD127', 'score': 10.38}, {'connected_gene': 'LINC02302', 'score': 9.39}, {'connected_gene': 'FANCM', 'score': 0.77}, {'connected_gene': 'GC14P045108', 'score': 0.29}, {'connected_gene': 'GC14P045107', 'score': 0.29}, {'connected_gene': 'GC14M044793', 'score': 0.26}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14	GH14I045139	45138801	45139000	0.2	[{'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'ENSG00000212615', 'score': 11.04}, {'connected_gene': 'PRPF39', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'SNORD127', 'score': 10.38}, {'connected_gene': 'LINC02302', 'score': 9.39}, {'connected_gene': 'FANCM', 'score': 0.77}, {'connected_gene': 'GC14P045108', 'score': 0.29}, {'connected_gene': 'GC14P045107', 'score': 0.29}, {'connected_gene': 'GC14M044793', 'score': 0.28}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14	GH14I045083	45083439	45085859	1.96	[{'connected_gene': 'LOC105370474', 'score': 550.77}, {'connected_gene': 'PRPF39', 'score': 550.77}, {'connected_gene': 'LINC02302', 'score': 9.78}, {'connected_gene': 'ENSG00000212615', 'score': 0.77}, {'connected_gene': 'GC14M044793', 'score': 0.16}, {'connected_gene': 'GC14P044911', 'score': 0.09}, {'connected_gene': 'GC14P044610', 'score': 0.04}, {'connected_gene': 'GC14P044609', 'score': 0.04}, {'connected_gene': 'GC14P044608', 'score': 0.04}]
chr14	GH14I045103	45103692	45105621	0.2	[{'connected_gene': 'LINC02302', 'score': 11.17}, {'connected_gene': 'MIS18BP1', 'score': 7.17}, {'connected_gene': 'GC14P045108', 'score': 0.77}, {'connected_gene': 'GC14P045107', 'score': 0.77}, {'connected_gene': 'ENSG00000212615', 'score': 0.37}, {'connected_gene': 'PRPF39', 'score': 0.34}, {'connected_gene': 'GC14M044793', 'score': 0.19}, {'connected_gene': 'GC14P044911', 'score': 0.08}]
chr14	GH14I045113	45113018	45113167	0.7	[{'connected_gene': 'LINC02302', 'score': 10.54}, {'connected_gene': 'SNORD127', 'score': 0.77}, {'connected_gene': 'GC14P045108', 'score': 0.44}, {'connected_gene': 'GC14P045107', 'score': 0.44}, {'connected_gene': 'GC14M045133', 'score': 0.34}, {'connected_gene': 'PRPF39', 'score': 0.31}, {'connected_gene': 'GC14M044793', 'score': 0.2}, {'connected_gene': 'GC14P044911', 'score': 0.08}]
chr14	GH14I045114	45113281	45113771	0.72	[{'connected_gene': 'SNORD127', 'score': 0.77}, {'connected_gene': 'GC14P045108', 'score': 0.44}, {'connected_gene': 'GC14P045107', 'score': 0.44}, {'connected_gene': 'GC14M045133', 'score': 0.34}, {'connected_gene': 'PRPF39', 'score': 0.31}, {'connected_gene': 'GC14M044793', 'score': 0.2}, {'connected_gene': 'GC14P044911', 'score': 0.08}]
chr14	GH14I045096	45096375	45096845	0.4	[{'connected_gene': 'ENSG00000212615', 'score': 0.44}, {'connected_gene': 'GC14P045108', 'score': 0.39}, {'connected_gene': 'PRPF39', 'score': 0.39}, {'connected_gene': 'GC14P045107', 'score': 0.39}, {'connected_gene': 'GC14M044793', 'score': 0.18}, {'connected_gene': 'GC14P044911', 'score': 0.09}]
chr14	GH14I045198	45198412	45200027	0.2	[{'connected_gene': 'ENSG00000212615', 'score': 11.15}, {'connected_gene': 'LOC105370474', 'score': 11.14}, {'connected_gene': 'PRPF39', 'score': 11.14}, {'connected_gene': 'MIS18BP1', 'score': 9.66}, {'connected_gene': 'GC14M044793', 'score': 0.34}, {'connected_gene': 'FANCM', 'score': 0.21}, {'connected_gene': 'GC14P045108', 'score': 0.16}, {'connected_gene': 'GC14P045107', 'score': 0.16}, {'connected_gene': 'GC14P044911', 'score': 0.06}]
chr14	GH14I045090	45090018	45090167	0.57	[{'connected_gene': 'ENSG00000212615', 'score': 550.77}, {'connected_gene': 'SNORD127', 'score': 12.04}, {'connected_gene': 'PRPF39', 'score': 0.44}, {'connected_gene': 'GC14P045108', 'score': 0.37}, {'connected_gene': 'GC14P045107', 'score': 0.37}, {'connected_gene': 'GC14M044793', 'score': 0.17}, {'connected_gene': 'GC14P044911', 'score': 0.1}]