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
ENST00000278520	[[96085932, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117925], [96119417, 96119457], [96120693, 96121068]]	[[96086809, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117911]]
ENST00000542662	[[96085938, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117925], [96119417, 96119457], [96120693, 96120777], [96121858, 96121993], [96123007, 96123076]]	[[96086809, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117911]]
ENST00000545264	[[96086611, 96086878], [96092156, 96092446]]	None
ENST00000423339	[[96086809, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96118154]]	[[96086809, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117911]]
ENST00000530106	[[96113700, 96116637], [96117125, 96117933]]	None
ENST00000538597	[[96117124, 96117925], [96122528, 96122576]]	[[96117124, 96117911]]
ENST00000530203	[[96117821, 96117925], [96119100, 96119184], [96119417, 96119465]]	[[96117821, 96117911]]
ENST00000524836	[[96119129, 96119457], [96120693, 96120777], [96123007, 96123087]]	None
ENST00000525786	[[96120303, 96120777], [96123007, 96123083]]	None
NM_001318736	[[96085928, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117925], [96119417, 96119457], [96120693, 96120777], [96121858, 96121993], [96123007, 96123083]]	[[96086809, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117911]]
NM_024725	[[96085928, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117925], [96119417, 96119457], [96120693, 96120777], [96123007, 96123083]]	[[96086809, 96086878], [96092156, 96092342], [96098143, 96098314], [96104176, 96104301], [96106538, 96106631], [96116432, 96116637], [96117125, 96117911]]
NM_001318737	[[96114965, 96116637], [96117125, 96117925], [96119417, 96119457], [96120693, 96120777], [96123007, 96123083]]	[[96116388, 96116637], [96117125, 96117911]]

Promoter

Chrom	Start	End	Description
chr11	96122941	96122952	CAGE_peak_9_at_CCDC82_5end
chr11	96122977	96122988	CAGE_peak_3_at_CCDC82_5end
chr11	96123022	96123090	CAGE_peak_1_at_CCDC82_5end
chr11	96123102	96123115	CAGE_peak_2_at_CCDC82_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I096061	96061706	96063806	0.89	[{'connected_gene': 'JRKL', 'score': 10.68}, {'connected_gene': 'CCDC82', 'score': 10.68}, {'connected_gene': 'GC11M095989', 'score': 0.21}, {'connected_gene': 'GC11P096202', 'score': 0.12}, {'connected_gene': 'MAML2', 'score': 0.06}]
chr11	GH11I096037	96037017	96038426	0.96	[{'connected_gene': 'JRKL', 'score': 11.08}, {'connected_gene': 'CCDC82', 'score': 11.08}, {'connected_gene': 'GC11M095989', 'score': 0.28}, {'connected_gene': 'GC11P096202', 'score': 0.1}, {'connected_gene': 'MAML2', 'score': 0.06}]
chr11	GH11I096391	96391601	96391800	0.2	[{'connected_gene': 'JRKL', 'score': 550.77}, {'connected_gene': 'CCDC82', 'score': 550.77}, {'connected_gene': 'GC11M096475', 'score': 0.18}, {'connected_gene': 'RNA5SP346', 'score': 0.18}]
chr11	GH11I096011	96011538	96017134	1.69	[{'connected_gene': 'MAML2', 'score': 16.12}, {'connected_gene': 'CEP57', 'score': 11.01}, {'connected_gene': 'JRKL', 'score': 10.34}, {'connected_gene': 'FAM76B', 'score': 5.95}, {'connected_gene': 'LOC101929295', 'score': 5.71}, {'connected_gene': 'CCDC82', 'score': 1.78}, {'connected_gene': 'GC11M095989', 'score': 0.37}, {'connected_gene': 'GC11P096202', 'score': 0.09}]
chr11	GH11I096226	96226802	96232199	1.44	[{'connected_gene': 'MAML2', 'score': 6.45}, {'connected_gene': 'MTMR2', 'score': 5.11}, {'connected_gene': 'FAM76B', 'score': 3.14}, {'connected_gene': 'JRKL', 'score': 2.01}, {'connected_gene': 'CCDC82', 'score': 1.77}, {'connected_gene': 'GC11P096202', 'score': 0.31}, {'connected_gene': 'GC11M096338', 'score': 0.14}]
chr11	GH11I096168	96168277	96170061	1.39	[{'connected_gene': 'MAML2', 'score': 9.99}, {'connected_gene': 'MTMR2', 'score': 5.04}, {'connected_gene': 'FAM76B', 'score': 3.82}, {'connected_gene': 'JRKL', 'score': 2.57}, {'connected_gene': 'CCDC82', 'score': 2.3}, {'connected_gene': 'GC11P096202', 'score': 0.29}, {'connected_gene': 'GC11M095989', 'score': 0.09}]
chr11	GH11I096253	96253088	96260827	1.65	[{'connected_gene': 'MAML2', 'score': 24.1}, {'connected_gene': 'CCDC82', 'score': 8.37}, {'connected_gene': 'FAM76B', 'score': 7.15}, {'connected_gene': 'JRKL', 'score': 2.84}, {'connected_gene': 'GC11P096202', 'score': 0.23}, {'connected_gene': 'GC11M096338', 'score': 0.18}]
chr11	GH11I096266	96266931	96268916	1.42	[{'connected_gene': 'MAML2', 'score': 7.85}, {'connected_gene': 'CCDC82', 'score': 4.49}, {'connected_gene': 'FAM76B', 'score': 3.19}, {'connected_gene': 'JRKL', 'score': 1.53}, {'connected_gene': 'GC11P096202', 'score': 0.2}, {'connected_gene': 'GC11M096338', 'score': 0.19}]
chr11	GH11I096277	96277865	96280528	1.26	[{'connected_gene': 'MAML2', 'score': 11.77}, {'connected_gene': 'CCDC82', 'score': 8.35}, {'connected_gene': 'GC11M096338', 'score': 0.21}, {'connected_gene': 'GC11P096202', 'score': 0.18}]
chr11	GH11I096206	96206202	96209599	1.51	[{'connected_gene': 'MAML2', 'score': 12.46}, {'connected_gene': 'FAM76B', 'score': 9.51}, {'connected_gene': 'MTMR2', 'score': 4.58}, {'connected_gene': 'CCDC82', 'score': 3.38}, {'connected_gene': 'JRKL', 'score': 1.34}, {'connected_gene': 'GC11P096202', 'score': 0.44}, {'connected_gene': 'GC11M096338', 'score': 0.12}]
chr11	GH11I096262	96262617	96266256	1.45	[{'connected_gene': 'MAML2', 'score': 21.99}, {'connected_gene': 'FAM76B', 'score': 3.3}, {'connected_gene': 'JRKL', 'score': 2.51}, {'connected_gene': 'CCDC82', 'score': 2.17}, {'connected_gene': 'GC11P096202', 'score': 0.21}, {'connected_gene': 'GC11M096338', 'score': 0.18}]
chr11	GH11I096045	96045699	96047127	1.23	[{'connected_gene': 'MAML2', 'score': 7.79}, {'connected_gene': 'FAM76B', 'score': 2.46}, {'connected_gene': 'JRKL', 'score': 2.12}, {'connected_gene': 'CCDC82', 'score': 1.68}, {'connected_gene': 'GC11M095989', 'score': 0.25}, {'connected_gene': 'GC11P096202', 'score': 0.1}]
chr11	GH11I096241	96241148	96244732	1.75	[{'connected_gene': 'MAML2', 'score': 25.1}, {'connected_gene': 'FAM76B', 'score': 16.7}, {'connected_gene': 'CCDC82', 'score': 3.24}, {'connected_gene': 'JRKL', 'score': 2.21}, {'connected_gene': 'GC11P096202', 'score': 0.26}, {'connected_gene': 'GC11M096338', 'score': 0.15}]
chr11	GH11I096134	96134118	96135594	0.69	[{'connected_gene': 'MAML2', 'score': 14.62}, {'connected_gene': 'FAM76B', 'score': 4.67}, {'connected_gene': 'CCDC82', 'score': 2.39}, {'connected_gene': 'GC11P096202', 'score': 0.2}, {'connected_gene': 'GC11M095989', 'score': 0.12}]
chr11	GH11I096273	96273679	96274103	0.77	[{'connected_gene': 'MAML2', 'score': 5.29}, {'connected_gene': 'FAM76B', 'score': 1.97}, {'connected_gene': 'CCDC82', 'score': 1.77}, {'connected_gene': 'GC11M096338', 'score': 0.2}, {'connected_gene': 'GC11P096202', 'score': 0.19}]
chr11	GH11I096337	96337039	96343891	2.51	[{'connected_gene': 'MAML2', 'score': 568.26}, {'connected_gene': 'GC11M096338', 'score': 550.77}, {'connected_gene': 'MIR1260B', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 26.9}, {'connected_gene': 'FGFR3P2', 'score': 14.49}, {'connected_gene': 'CEP57', 'score': 11.86}, {'connected_gene': 'CCDC82', 'score': 7.56}, {'connected_gene': 'JRKL', 'score': 3.74}]
chr11	GH11I096388	96388618	96391084	2.02	[{'connected_gene': 'CCDC82', 'score': 633.42}, {'connected_gene': 'JRKL', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 10.97}, {'connected_gene': 'MAML2', 'score': 0.25}]
chr11	GH11I096305	96305462	96315941	1.62	[{'connected_gene': 'CCDC82', 'score': 18.35}, {'connected_gene': 'MAML2', 'score': 13.58}, {'connected_gene': 'GC11M096338', 'score': 0.31}, {'connected_gene': 'GC11P096202', 'score': 0.14}]
chr11	GH11I096318	96318757	96319415	0.82	[{'connected_gene': 'CCDC82', 'score': 47.54}, {'connected_gene': 'MAML2', 'score': 11.97}, {'connected_gene': 'GC11M096338', 'score': 0.34}, {'connected_gene': 'GC11P096202', 'score': 0.13}]
chr11	GH11I096292	96292712	96294643	1.06	[{'connected_gene': 'CCDC82', 'score': 11.88}, {'connected_gene': 'GC11M096338', 'score': 0.25}, {'connected_gene': 'MAML2', 'score': 0.25}, {'connected_gene': 'GC11P096202', 'score': 0.16}]
chr11	GH11I096286	96286925	96289611	0.68	[{'connected_gene': 'CCDC82', 'score': 8.9}, {'connected_gene': 'GC11M096338', 'score': 0.23}, {'connected_gene': 'MAML2', 'score': 0.23}, {'connected_gene': 'GC11P096202', 'score': 0.17}]
chr11	GH11I096320	96320142	96326786	1.31	[{'connected_gene': 'CCDC82', 'score': 11.16}, {'connected_gene': 'GC11M096338', 'score': 0.37}, {'connected_gene': 'MAML2', 'score': 0.37}, {'connected_gene': 'GC11P096202', 'score': 0.13}]
chr11	GH11I096387	96387884	96387943	0.5	[{'connected_gene': 'CCDC82', 'score': 550.77}, {'connected_gene': 'MAML2', 'score': 0.26}]
chr11	GH11I096371	96371727	96371837	0.39	[{'connected_gene': 'CCDC82', 'score': 0.37}, {'connected_gene': 'MAML2', 'score': 0.31}]
chr11	GH11I096385	96385580	96385639	0.5	[{'connected_gene': 'CCDC82', 'score': 550.77}, {'connected_gene': 'MAML2', 'score': 0.26}]
chr11	GH11I096455	96455946	96456846	0.31	[{'connected_gene': 'CCDC82', 'score': 12.23}, {'connected_gene': 'GC11M096475', 'score': 0.37}, {'connected_gene': 'RNA5SP346', 'score': 0.37}, {'connected_gene': 'JRKL-AS1', 'score': 0.23}, {'connected_gene': 'JRKL', 'score': 0.2}]
chr11	GH11I096153	96153202	96158975	1.71	[{'connected_gene': 'FAM76B', 'score': 37.27}, {'connected_gene': 'CEP57', 'score': 32.33}, {'connected_gene': 'FGFR3P2', 'score': 27.8}, {'connected_gene': 'CCDC82', 'score': 13.17}, {'connected_gene': 'JRKL', 'score': 11.32}, {'connected_gene': 'MAML2', 'score': 10.47}, {'connected_gene': 'GC11P096202', 'score': 0.25}, {'connected_gene': 'GC11M095989', 'score': 0.1}]
chr11	GH11I096105	96105201	96106309	1.07	[{'connected_gene': 'FAM76B', 'score': 3.99}, {'connected_gene': 'MAML2', 'score': 3.09}, {'connected_gene': 'CCDC82', 'score': 1.46}, {'connected_gene': 'CEP57', 'score': 1.26}, {'connected_gene': 'GC11P096202', 'score': 0.15}, {'connected_gene': 'GC11M095989', 'score': 0.14}]
chr11	GH11I096328	96328337	96334097	1.39	[{'connected_gene': 'FGFR3P2', 'score': 23.0}, {'connected_gene': 'FAM76B', 'score': 16.29}, {'connected_gene': 'CCDC82', 'score': 15.34}, {'connected_gene': 'CEP57', 'score': 15.23}, {'connected_gene': 'JRKL', 'score': 14.58}, {'connected_gene': 'MAML2', 'score': 10.03}, {'connected_gene': 'GC11M096338', 'score': 0.44}, {'connected_gene': 'GC11P096202', 'score': 0.13}]
chr11	GH11I096203	96203144	96205905	1.17	[{'connected_gene': 'GC11P096202', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 4.06}, {'connected_gene': 'MAML2', 'score': 2.53}, {'connected_gene': 'CCDC82', 'score': 1.88}, {'connected_gene': 'GC11M096338', 'score': 0.12}]