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
ENST00000367534	[[183592400, 183592606], [183599595, 183599772], [183602216, 183602289], [183604651, 183604817]]	[[183592591, 183592606], [183599595, 183599772], [183602216, 183602289], [183604651, 183604794]]
ENST00000462965	[[183595328, 183596729], [183599595, 183599772], [183602216, 183603093]]	None
ENST00000359856	[[183595351, 183596729], [183599595, 183599772], [183602216, 183602289], [183604651, 183604861]]	[[183596666, 183596729], [183599595, 183599772], [183602216, 183602289], [183604651, 183604794]]
ENST00000294742	[[183595592, 183596729], [183599595, 183599772], [183602216, 183602298], [183604651, 183604892]]	[[183596666, 183596729], [183599595, 183599772], [183602216, 183602298], [183604651, 183604794]]
ENST00000602490	[[183599459, 183602444]]	None
NM_001270439	[[183595327, 183596729], [183599595, 183599772], [183602216, 183602298], [183604651, 183605076]]	[[183596666, 183596729], [183599595, 183599772], [183602216, 183602298], [183604651, 183604794]]
NM_005717	[[183595327, 183596729], [183599595, 183599772], [183602216, 183602289], [183604651, 183605076]]	[[183596666, 183596729], [183599595, 183599772], [183602216, 183602289], [183604651, 183604794]]

Promoter

Chrom	Start	End	Description
chr1	183604794	183604908	CAGE_peak_1_at_ARPC5_5end
chr1	183604911	183604928	CAGE_peak_2_at_ARPC5_5end
chr1	183604930	183604943	CAGE_peak_3_at_ARPC5_5end
chr1	183605030	183605043	CAGE_peak_4_at_ARPC5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I183804	183804228	183809200	2.51	[{'connected_gene': 'RGL1', 'score': 550.09}, {'connected_gene': 'DHX9', 'score': 11.58}, {'connected_gene': 'ENSG00000227554', 'score': 11.21}, {'connected_gene': 'SMG7', 'score': 10.42}, {'connected_gene': 'NCF2', 'score': 7.18}, {'connected_gene': 'ARPC5', 'score': 2.96}, {'connected_gene': 'GC01M183931', 'score': 0.13}]
chr1	GH01I183579	183579923	183581214	1.34	[{'connected_gene': 'NCF2', 'score': 11.15}, {'connected_gene': 'SMG7', 'score': 7.46}, {'connected_gene': 'ARPC5', 'score': 6.07}, {'connected_gene': 'GC01M183483', 'score': 0.44}, {'connected_gene': 'LOC100526839', 'score': 0.44}]
chr1	GH01I183895	183895735	183899017	1.38	[{'connected_gene': 'NCF2', 'score': 12.26}, {'connected_gene': 'APOBEC4', 'score': 10.9}, {'connected_gene': 'ARPC5', 'score': 3.11}, {'connected_gene': 'GC01M183931', 'score': 0.28}, {'connected_gene': 'ENSG00000227554', 'score': 0.11}, {'connected_gene': 'RGL1', 'score': 0.07}]
chr1	GH01I183599	183599601	183601200	1.37	[{'connected_gene': 'NCF2', 'score': 19.49}, {'connected_gene': 'APOBEC4', 'score': 9.27}, {'connected_gene': 'ARPC5', 'score': 4.46}, {'connected_gene': 'GC01M183620', 'score': 0.34}]
chr1	GH01I183592	183592292	183594196	1.21	[{'connected_gene': 'NCF2', 'score': 43.55}, {'connected_gene': 'DHX9', 'score': 13.31}, {'connected_gene': 'LAMC1', 'score': 12.39}, {'connected_gene': 'SMG7', 'score': 12.0}, {'connected_gene': 'APOBEC4', 'score': 10.49}, {'connected_gene': 'HMGN1P4', 'score': 9.65}, {'connected_gene': 'ARPC5', 'score': 5.9}, {'connected_gene': 'SMG7-AS1', 'score': 4.41}, {'connected_gene': 'GC01M183620', 'score': 0.31}]
chr1	GH01I183466	183466895	183467090	0.27	[{'connected_gene': 'NCF2', 'score': 8.4}, {'connected_gene': 'ARPC5', 'score': 2.54}, {'connected_gene': 'SMG7', 'score': 0.44}, {'connected_gene': 'SMG7-AS1', 'score': 0.44}, {'connected_gene': 'LOC105371646', 'score': 0.29}]
chr1	GH01I183557	183557563	183558173	0.25	[{'connected_gene': 'NCF2', 'score': 14.16}, {'connected_gene': 'ARPC5', 'score': 7.01}, {'connected_gene': 'SMG7', 'score': 1.28}, {'connected_gene': 'GC01M183483', 'score': 0.37}, {'connected_gene': 'PIR51337', 'score': 0.29}]
chr1	GH01I183602	183602602	183610799	1.68	[{'connected_gene': 'NCF2', 'score': 49.53}, {'connected_gene': 'ARPC5', 'score': 30.17}, {'connected_gene': 'RGL1', 'score': 11.9}, {'connected_gene': 'APOBEC4', 'score': 10.6}, {'connected_gene': 'SMG7', 'score': 2.57}, {'connected_gene': 'GC01M183620', 'score': 0.39}]
chr1	GH01I183885	183885421	183885568	0.47	[{'connected_gene': 'NCF2', 'score': 4.3}, {'connected_gene': 'ARPC5', 'score': 1.59}, {'connected_gene': 'GC01M183931', 'score': 0.25}, {'connected_gene': 'ENSG00000227554', 'score': 0.12}, {'connected_gene': 'RGL1', 'score': 0.07}]
chr1	GH01I183733	183733459	183736771	0.89	[{'connected_gene': 'NCF2', 'score': 20.6}, {'connected_gene': 'ARPC5', 'score': 16.46}, {'connected_gene': 'APOBEC4', 'score': 9.77}, {'connected_gene': 'ENSG00000227554', 'score': 0.37}, {'connected_gene': 'LOC100420254', 'score': 0.34}, {'connected_gene': 'RGL1', 'score': 0.15}]
chr1	GH01I183588	183588731	183591538	2.34	[{'connected_gene': 'NCF2', 'score': 602.94}, {'connected_gene': 'ARPC5', 'score': 13.38}, {'connected_gene': 'SMG7-AS1', 'score': 4.28}, {'connected_gene': 'SMG7', 'score': 2.57}, {'connected_gene': 'LOC100526839', 'score': 0.77}]
chr1	GH01I183363	183363600	183364332	0.69	[{'connected_gene': 'NCF2', 'score': 12.56}, {'connected_gene': 'ARPC5', 'score': 3.75}, {'connected_gene': 'NMNAT2', 'score': 0.23}, {'connected_gene': 'RPS3AP8', 'score': 0.15}]
chr1	GH01I183582	183582601	183584400	1.03	[{'connected_gene': 'NCF2', 'score': 14.46}, {'connected_gene': 'ARPC5', 'score': 4.43}, {'connected_gene': 'LOC100526839', 'score': 0.77}, {'connected_gene': 'GC01M183483', 'score': 0.44}, {'connected_gene': 'SMG7', 'score': 0.14}]
chr1	GH01I183739	183739240	183740010	0.43	[{'connected_gene': 'NCF2', 'score': 20.22}, {'connected_gene': 'ARPC5', 'score': 17.4}, {'connected_gene': 'ENSG00000227554', 'score': 0.37}, {'connected_gene': 'LOC100420254', 'score': 0.31}, {'connected_gene': 'RGL1', 'score': 0.15}]
chr1	GH01I183612	183612696	183613373	0.31	[{'connected_gene': 'NCF2', 'score': 24.16}, {'connected_gene': 'ARPC5', 'score': 16.46}, {'connected_gene': 'GC01M183620', 'score': 0.44}]
chr1	GH01I183891	183891287	183892800	1.46	[{'connected_gene': 'APOBEC4', 'score': 10.9}, {'connected_gene': 'NCF2', 'score': 9.37}, {'connected_gene': 'COLGALT2', 'score': 6.18}, {'connected_gene': 'ARPC5', 'score': 2.48}, {'connected_gene': 'GC01M183931', 'score': 0.26}, {'connected_gene': 'ENSG00000227554', 'score': 0.12}, {'connected_gene': 'RGL1', 'score': 0.07}]
chr1	GH01I183909	183908161	183908481	0.72	[{'connected_gene': 'APOBEC4', 'score': 11.48}, {'connected_gene': 'COLGALT2', 'score': 9.98}, {'connected_gene': 'NCF2', 'score': 6.07}, {'connected_gene': 'ARPC5', 'score': 1.74}, {'connected_gene': 'GC01M183931', 'score': 0.31}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183651	183651562	183654365	1.34	[{'connected_gene': 'APOBEC4', 'score': 550.77}, {'connected_gene': 'ARPC5', 'score': 17.21}, {'connected_gene': 'RGL1', 'score': 0.37}]
chr1	GH01I183694	183694346	183695519	0.31	[{'connected_gene': 'APOBEC4', 'score': 10.94}, {'connected_gene': 'ENSG00000227554', 'score': 10.85}, {'connected_gene': 'ARPC5', 'score': 7.28}, {'connected_gene': 'LOC100420254', 'score': 0.37}, {'connected_gene': 'RGL1', 'score': 0.22}]
chr1	GH01I183148	183148149	183150000	0.99	[{'connected_gene': 'LAMC2', 'score': 18.26}, {'connected_gene': 'ARPC5', 'score': 4.09}, {'connected_gene': 'LAMC1-AS1', 'score': 0.44}]
chr1	GH01I183911	183911086	183912050	1.29	[{'connected_gene': 'COLGALT2', 'score': 16.06}, {'connected_gene': 'NCF2', 'score': 13.34}, {'connected_gene': 'APOBEC4', 'score': 11.48}, {'connected_gene': 'ARPC5', 'score': 3.34}, {'connected_gene': 'GC01M183931', 'score': 0.34}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183784	183784179	183784964	0.66	[{'connected_gene': 'DHX9', 'score': 22.62}, {'connected_gene': 'ARPC5', 'score': 17.8}, {'connected_gene': 'ENSG00000271387', 'score': 10.71}, {'connected_gene': 'ENSG00000227554', 'score': 0.31}, {'connected_gene': 'RGL1', 'score': 0.11}, {'connected_gene': 'GC01M183931', 'score': 0.11}]
chr1	GH01I183632	183632400	183637002	2.3	[{'connected_gene': 'ARPC5', 'score': 569.82}, {'connected_gene': 'GC01M183630', 'score': 550.77}, {'connected_gene': 'RGL1', 'score': 550.77}, {'connected_gene': 'NCF2', 'score': 25.75}, {'connected_gene': 'DHX9', 'score': 11.27}]
chr1	GH01I183757	183757206	183757355	0.38	[{'connected_gene': 'ARPC5', 'score': 17.74}, {'connected_gene': 'ENSG00000227554', 'score': 0.77}, {'connected_gene': 'RGL1', 'score': 0.13}, {'connected_gene': 'GC01M183931', 'score': 0.1}]
chr1	GH01I183626	183626001	183626200	0.2	[{'connected_gene': 'ARPC5', 'score': 7.63}, {'connected_gene': 'GC01M183620', 'score': 0.77}, {'connected_gene': 'GC01M183630', 'score': 0.44}]
chr1	GH01I183630	183630626	183631515	0.49	[{'connected_gene': 'ARPC5', 'score': 7.96}, {'connected_gene': 'GC01M183630', 'score': 0.77}, {'connected_gene': 'GC01M183620', 'score': 0.44}]
chr1	GH01I183585	183585001	183585400	0.92	[{'connected_gene': 'LOC100526839', 'score': 550.77}, {'connected_gene': 'NCF2', 'score': 18.96}, {'connected_gene': 'ARPC5', 'score': 14.34}, {'connected_gene': 'GC01M183483', 'score': 0.44}, {'connected_gene': 'SMG7', 'score': 0.14}]
chr1	GH01I183586	183586801	183587800	0.66	[{'connected_gene': 'LOC100526839', 'score': 550.77}, {'connected_gene': 'NCF2', 'score': 21.7}, {'connected_gene': 'ARPC5', 'score': 14.46}, {'connected_gene': 'SMG7', 'score': 0.13}]
chr1	GH01I183277	183277449	183284234	1.52	[{'connected_gene': 'LOC100271717', 'score': 10.6}, {'connected_gene': 'SHCBP1L', 'score': 10.6}, {'connected_gene': 'LAMC2', 'score': 6.78}, {'connected_gene': 'NCF2', 'score': 2.68}, {'connected_gene': 'ARPC5', 'score': 2.02}, {'connected_gene': 'LAMC1', 'score': 1.74}, {'connected_gene': 'RPS3AP8', 'score': 0.39}, {'connected_gene': 'NMNAT2', 'score': 0.12}]
chr1	GH01I183619	183619223	183621082	0.52	[{'connected_gene': 'GC01M183620', 'score': 550.77}, {'connected_gene': 'ARPC5', 'score': 19.32}, {'connected_gene': 'NCF2', 'score': 0.31}]
chr1	GH01I183633	183632206	183632355	0.67	[{'connected_gene': 'GC01M183630', 'score': 550.77}, {'connected_gene': 'ARPC5', 'score': 7.96}, {'connected_gene': 'GC01M183620', 'score': 0.39}]
chr1	GH01I183631	183631806	183632005	0.2	[{'connected_gene': 'GC01M183630', 'score': 550.77}, {'connected_gene': 'ARPC5', 'score': 0.77}, {'connected_gene': 'GC01M183620', 'score': 0.39}]
chr1	GH01I183622	183622401	183623730	1.17	[{'connected_gene': 'GC01M183620', 'score': 550.77}, {'connected_gene': 'ARPC5', 'score': 19.44}, {'connected_gene': 'GC01M183630', 'score': 0.39}]