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
ENST00000391864	[[49617580, 49617698], [49618105, 49618224], [49618516, 49618588], [49621111, 49621275], [49621608, 49621717]]	[[49617661, 49617698], [49618105, 49618224], [49618516, 49618588], [49621111, 49621275], [49621608, 49621630]]
ENST00000221459	[[49617617, 49617698], [49618105, 49618224], [49618516, 49618588], [49619519, 49619729], [49621111, 49621275], [49621608, 49621717]]	[[49617661, 49617698], [49618105, 49618224], [49618516, 49618588], [49619519, 49619729], [49621111, 49621275], [49621608, 49621630]]
ENST00000595200	[[49617665, 49617698], [49618105, 49618224], [49618516, 49618588], [49619081, 49619281], [49619519, 49619729], [49621111, 49621272]]	[[49617665, 49617698], [49618105, 49618224], [49618516, 49618588], [49619081, 49619255]]
ENST00000486217	[[49617680, 49617698], [49618105, 49618224], [49618516, 49618746]]	[[49617680, 49617698], [49618105, 49618224], [49618516, 49618726]]
ENST00000469137	[[49617722, 49618224], [49618516, 49618588], [49619519, 49619729], [49621111, 49621275], [49621608, 49621717]]	None
ENST00000474252	[[49618482, 49618588], [49619519, 49619729], [49621111, 49621316]]	None
ENST00000465141	[[49619374, 49619729], [49621111, 49621252]]	None
NM_001308419	[[49617617, 49617698], [49618105, 49618224], [49618516, 49618588], [49621111, 49621275], [49621608, 49621717]]	[[49617661, 49617698], [49618105, 49618224], [49618516, 49618588], [49621111, 49621275], [49621608, 49621630]]
NM_022165	[[49617617, 49617698], [49618105, 49618224], [49618516, 49618588], [49619519, 49619729], [49621111, 49621275], [49621608, 49621717]]	[[49617661, 49617698], [49618105, 49618224], [49618516, 49618588], [49619519, 49619729], [49621111, 49621275], [49621608, 49621630]]

Promoter

Chrom	Start	End	Description
chr19	49617599	49617607	CAGE_peak_2_at_LIN7B_5end
chr19	49617609	49617658	CAGE_peak_1_at_LIN7B_5end
chr19	49617940	49617949	CAGE_peak_4_at_LIN7B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I049142	49142251	49143383	1.52	[{'connected_gene': 'PPFIA3', 'score': 22.52}, {'connected_gene': 'C19orf73', 'score': 13.22}, {'connected_gene': 'LIN7B', 'score': 13.19}, {'connected_gene': 'SNRNP70', 'score': 12.04}, {'connected_gene': 'NTF4', 'score': 11.55}, {'connected_gene': 'CGB7', 'score': 11.54}, {'connected_gene': 'KCNA7', 'score': 11.5}, {'connected_gene': 'SLC6A16', 'score': 10.51}, {'connected_gene': 'CD37', 'score': 10.5}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.63}, {'connected_gene': 'TULP2', 'score': 9.6}, {'connected_gene': 'NUCB1-AS1', 'score': 4.48}, {'connected_gene': 'HRC', 'score': 0.39}]
chr19	GH19I049117	49117363	49120253	2.11	[{'connected_gene': 'PPFIA3', 'score': 550.77}, {'connected_gene': 'C19orf73', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 50.85}, {'connected_gene': 'SNRNP70', 'score': 43.57}, {'connected_gene': 'IRF3', 'score': 36.39}, {'connected_gene': 'PRR12', 'score': 33.35}, {'connected_gene': 'PTOV1-AS2', 'score': 30.82}, {'connected_gene': 'SNORD35A', 'score': 30.65}, {'connected_gene': 'SNORD35B', 'score': 28.27}, {'connected_gene': 'ALDH16A1', 'score': 28.25}, {'connected_gene': 'GRWD1', 'score': 25.54}, {'connected_gene': 'KDELR1', 'score': 23.9}, {'connected_gene': 'PNKP', 'score': 23.33}, {'connected_gene': 'RPL13A', 'score': 23.22}, {'connected_gene': 'RPL18', 'score': 22.5}, {'connected_gene': 'RPS11', 'score': 21.97}, {'connected_gene': 'PIH1D1', 'score': 20.8}, {'connected_gene': 'RUVBL2', 'score': 19.23}, {'connected_gene': 'PTOV1', 'score': 18.63}, {'connected_gene': 'ENSG00000268047', 'score': 15.4}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'ZNF473', 'score': 14.19}, {'connected_gene': 'VRK3', 'score': 12.21}, {'connected_gene': 'LIN7B', 'score': 12.18}, {'connected_gene': 'NOSIP', 'score': 11.37}, {'connected_gene': 'BCAT2', 'score': 10.98}, {'connected_gene': 'DKKL1', 'score': 10.88}, {'connected_gene': 'FLT3LG', 'score': 10.38}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'SLC6A16', 'score': 10.14}, {'connected_gene': 'FCGRT', 'score': 10.12}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'NTF4', 'score': 7.06}, {'connected_gene': 'CGB8', 'score': 6.84}]
chr19	GH19I049148	49148030	49152428	1.78	[{'connected_gene': 'SNRNP70', 'score': 30.63}, {'connected_gene': 'PPFIA3', 'score': 24.85}, {'connected_gene': 'PRR12', 'score': 23.59}, {'connected_gene': 'GRWD1', 'score': 22.81}, {'connected_gene': 'PIH1D1', 'score': 18.71}, {'connected_gene': 'SNORD35A', 'score': 14.85}, {'connected_gene': 'ALDH16A1', 'score': 14.82}, {'connected_gene': 'RPL13A', 'score': 14.69}, {'connected_gene': 'PTOV1-AS2', 'score': 14.5}, {'connected_gene': 'KDELR1', 'score': 13.99}, {'connected_gene': 'RPL18', 'score': 13.72}, {'connected_gene': 'IRF3', 'score': 13.54}, {'connected_gene': 'SNORD35B', 'score': 13.49}, {'connected_gene': 'RPS11', 'score': 13.14}, {'connected_gene': 'C19orf73', 'score': 12.45}, {'connected_gene': 'LIN7B', 'score': 12.43}, {'connected_gene': 'NUP62', 'score': 12.31}, {'connected_gene': 'PNKP', 'score': 11.73}, {'connected_gene': 'BCAT2', 'score': 10.98}, {'connected_gene': 'PTOV1', 'score': 10.57}, {'connected_gene': 'RASIP1', 'score': 9.71}, {'connected_gene': 'HRC', 'score': 0.44}]
chr19	GH19I049145	49145590	49147173	1.38	[{'connected_gene': 'SNRNP70', 'score': 32.24}, {'connected_gene': 'PPFIA3', 'score': 29.55}, {'connected_gene': 'PRR12', 'score': 24.14}, {'connected_gene': 'C19orf73', 'score': 12.66}, {'connected_gene': 'LIN7B', 'score': 12.64}, {'connected_gene': 'KCNA7', 'score': 11.57}, {'connected_gene': 'NTF4', 'score': 11.5}, {'connected_gene': 'CGB7', 'score': 11.49}, {'connected_gene': 'CD37', 'score': 10.51}, {'connected_gene': 'SLC6A16', 'score': 10.51}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'PIH1D1', 'score': 9.77}, {'connected_gene': 'RASIP1', 'score': 9.71}, {'connected_gene': 'CARD8', 'score': 4.89}, {'connected_gene': 'HRC', 'score': 0.44}]
chr19	GH19I049203	49203525	49205138	0.2	[{'connected_gene': 'SNRNP70', 'score': 11.66}, {'connected_gene': 'PPFIA3', 'score': 11.38}, {'connected_gene': 'C19orf73', 'score': 11.37}, {'connected_gene': 'LIN7B', 'score': 11.36}, {'connected_gene': 'KCNA7', 'score': 11.19}, {'connected_gene': 'SLC17A7', 'score': 10.51}, {'connected_gene': 'TRPM4', 'score': 0.25}, {'connected_gene': 'SLC6A21P', 'score': 0.23}]
chr19	GH19I049094	49094394	49096135	0.46	[{'connected_gene': 'SNRNP70', 'score': 7.27}, {'connected_gene': 'LIN7B', 'score': 7.01}, {'connected_gene': 'CGB8', 'score': 5.61}, {'connected_gene': 'GC19P049111', 'score': 0.39}]
chr19	GH19I049210	49210004	49211721	1.05	[{'connected_gene': 'SNRNP70', 'score': 11.81}, {'connected_gene': 'C19orf73', 'score': 11.51}, {'connected_gene': 'PPFIA3', 'score': 11.51}, {'connected_gene': 'LIN7B', 'score': 11.5}, {'connected_gene': 'NTF4', 'score': 11.28}, {'connected_gene': 'CGB7', 'score': 11.28}, {'connected_gene': 'CD37', 'score': 11.2}, {'connected_gene': 'SLC6A16', 'score': 11.2}, {'connected_gene': 'KCNA7', 'score': 10.89}, {'connected_gene': 'CCDC155', 'score': 10.8}, {'connected_gene': 'SLC17A7', 'score': 10.7}, {'connected_gene': 'LOC101928295', 'score': 4.41}, {'connected_gene': 'SLC6A21P', 'score': 0.25}, {'connected_gene': 'TRPM4', 'score': 0.23}]
chr19	GH19I049205	49205244	49205346	0.2	[{'connected_gene': 'SNRNP70', 'score': 11.66}, {'connected_gene': 'C19orf73', 'score': 11.37}, {'connected_gene': 'PPFIA3', 'score': 11.37}, {'connected_gene': 'LIN7B', 'score': 11.36}, {'connected_gene': 'KCNA7', 'score': 11.19}, {'connected_gene': 'SLC17A7', 'score': 10.51}, {'connected_gene': 'TRPM4', 'score': 0.25}, {'connected_gene': 'SLC6A21P', 'score': 0.23}]
chr19	GH19I049198	49198600	49199296	0.99	[{'connected_gene': 'SNRNP70', 'score': 11.67}, {'connected_gene': 'KCNA7', 'score': 11.55}, {'connected_gene': 'C19orf73', 'score': 11.39}, {'connected_gene': 'PPFIA3', 'score': 11.39}, {'connected_gene': 'LIN7B', 'score': 11.38}, {'connected_gene': 'NTF4', 'score': 11.36}, {'connected_gene': 'CGB7', 'score': 11.35}, {'connected_gene': 'SLC17A7', 'score': 10.51}, {'connected_gene': 'ZNF473', 'score': 4.97}, {'connected_gene': 'TRPM4', 'score': 0.26}, {'connected_gene': 'SLC6A21P', 'score': 0.22}]
chr19	GH19I049084	49084263	49087191	2.11	[{'connected_gene': 'SNRNP70', 'score': 591.54}, {'connected_gene': 'IRF3', 'score': 30.01}, {'connected_gene': 'SNORD35A', 'score': 25.73}, {'connected_gene': 'PRR12', 'score': 23.68}, {'connected_gene': 'GRWD1', 'score': 22.89}, {'connected_gene': 'SNORD35B', 'score': 22.64}, {'connected_gene': 'ALDH16A1', 'score': 21.93}, {'connected_gene': 'KDELR1', 'score': 20.53}, {'connected_gene': 'PTOV1-AS2', 'score': 16.94}, {'connected_gene': 'NUP62', 'score': 16.13}, {'connected_gene': 'PNKP', 'score': 15.89}, {'connected_gene': 'RPS11', 'score': 13.01}, {'connected_gene': 'ENSG00000268093', 'score': 12.94}, {'connected_gene': 'RPL13A', 'score': 12.28}, {'connected_gene': 'NTF4', 'score': 12.27}, {'connected_gene': 'PIH1D1', 'score': 11.94}, {'connected_gene': 'RPL18', 'score': 11.56}, {'connected_gene': 'BAX', 'score': 10.73}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'RUVBL2', 'score': 9.86}, {'connected_gene': 'LIN7B', 'score': 6.92}, {'connected_gene': 'GC19P049111', 'score': 0.34}]
chr19	GH19I049207	49207630	49209033	1.34	[{'connected_gene': 'SNRNP70', 'score': 24.19}, {'connected_gene': 'PPP1R15A', 'score': 14.86}, {'connected_gene': 'PRR12', 'score': 13.31}, {'connected_gene': 'CD37', 'score': 12.73}, {'connected_gene': 'C19orf73', 'score': 11.51}, {'connected_gene': 'PPFIA3', 'score': 11.51}, {'connected_gene': 'LIN7B', 'score': 11.51}, {'connected_gene': 'CGB7', 'score': 11.28}, {'connected_gene': 'NTF4', 'score': 11.28}, {'connected_gene': 'SLC6A16', 'score': 11.2}, {'connected_gene': 'KCNA7', 'score': 10.89}, {'connected_gene': 'CCDC155', 'score': 10.8}, {'connected_gene': 'SLC17A7', 'score': 10.7}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'PIH1D1', 'score': 9.78}, {'connected_gene': 'RASIP1', 'score': 9.7}, {'connected_gene': 'IZUMO1', 'score': 3.62}, {'connected_gene': 'FCGRT', 'score': 2.38}, {'connected_gene': 'RPS11', 'score': 1.47}, {'connected_gene': 'SLC6A21P', 'score': 0.25}, {'connected_gene': 'TRPM4', 'score': 0.23}]
chr19	GH19I049113	49113404	49115554	2.02	[{'connected_gene': 'LIN7B', 'score': 563.37}, {'connected_gene': 'CGB8', 'score': 13.41}, {'connected_gene': 'SNRNP70', 'score': 12.7}, {'connected_gene': 'NTF4', 'score': 11.95}, {'connected_gene': 'CGB7', 'score': 11.93}, {'connected_gene': 'KCNA7', 'score': 11.59}, {'connected_gene': 'C19orf73', 'score': 0.77}]
chr19	GH19I049124	49124670	49126093	1.15	[{'connected_gene': 'LIN7B', 'score': 6.51}, {'connected_gene': 'PPFIA3', 'score': 0.44}, {'connected_gene': 'HRC', 'score': 0.29}]
chr19	GH19I049135	49135719	49137277	1.16	[{'connected_gene': 'LIN7B', 'score': 13.22}, {'connected_gene': 'SNRNP70', 'score': 12.05}, {'connected_gene': 'PPFIA3', 'score': 11.99}, {'connected_gene': 'NTF4', 'score': 11.56}, {'connected_gene': 'CGB7', 'score': 11.55}, {'connected_gene': 'KCNA7', 'score': 11.51}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.57}, {'connected_gene': 'TULP2', 'score': 9.25}, {'connected_gene': 'HRC', 'score': 0.37}]
chr19	GH19I049097	49097450	49098553	0.83	[{'connected_gene': 'LIN7B', 'score': 8.51}, {'connected_gene': 'NTF4', 'score': 5.96}, {'connected_gene': 'SNRNP70', 'score': 5.04}, {'connected_gene': 'GC19P049111', 'score': 0.39}]
chr19	GH19I049439	49439849	49440204	0.25	[{'connected_gene': 'SLC17A7', 'score': 11.83}, {'connected_gene': 'PPFIA3', 'score': 7.92}, {'connected_gene': 'CPT1C', 'score': 2.74}, {'connected_gene': 'LIN7B', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.36}, {'connected_gene': 'TBC1D17', 'score': 1.29}, {'connected_gene': 'PTH2', 'score': 0.39}]
chr19	GH19I049147	49147864	49148013	0.58	[{'connected_gene': 'C19orf73', 'score': 12.46}, {'connected_gene': 'PPFIA3', 'score': 12.46}, {'connected_gene': 'LIN7B', 'score': 12.45}, {'connected_gene': 'HRC', 'score': 0.44}]
chr19	GH19I049116	49116664	49116813	0.57	[{'connected_gene': 'C19orf73', 'score': 0.77}, {'connected_gene': 'LIN7B', 'score': 0.77}]
chr19	GH19I049127	49127578	49129888	1.75	[{'connected_gene': 'SNORD35A', 'score': 36.62}, {'connected_gene': 'SNORD35B', 'score': 34.07}, {'connected_gene': 'ALDH16A1', 'score': 33.39}, {'connected_gene': 'NUP62', 'score': 27.89}, {'connected_gene': 'PTOV1-AS2', 'score': 27.49}, {'connected_gene': 'GRWD1', 'score': 22.88}, {'connected_gene': 'SNRNP70', 'score': 21.86}, {'connected_gene': 'IRF3', 'score': 21.37}, {'connected_gene': 'PIH1D1', 'score': 13.54}, {'connected_gene': 'PRR12', 'score': 12.97}, {'connected_gene': 'DKKL1', 'score': 11.88}, {'connected_gene': 'BCL2L12', 'score': 11.84}, {'connected_gene': 'BAX', 'score': 11.1}, {'connected_gene': 'CARD8', 'score': 10.89}, {'connected_gene': 'RPS11', 'score': 10.48}, {'connected_gene': 'ADM5', 'score': 10.37}, {'connected_gene': 'PNKP', 'score': 10.33}, {'connected_gene': 'RPL13A', 'score': 10.3}, {'connected_gene': 'PPFIA3', 'score': 6.66}, {'connected_gene': 'LIN7B', 'score': 5.68}, {'connected_gene': 'FCGRT', 'score': 5.47}, {'connected_gene': 'NTF4', 'score': 5.44}, {'connected_gene': 'HRC', 'score': 0.31}]
chr19	GH19I049012	49012960	49015163	0.72	[{'connected_gene': 'LOC101059948', 'score': 19.04}, {'connected_gene': 'CGB3', 'score': 17.49}, {'connected_gene': 'CGB7', 'score': 11.84}, {'connected_gene': 'NTF4', 'score': 11.81}, {'connected_gene': 'KCNA7', 'score': 11.75}, {'connected_gene': 'LIN7B', 'score': 10.88}, {'connected_gene': 'C19orf73', 'score': 10.87}, {'connected_gene': 'PPFIA3', 'score': 10.87}, {'connected_gene': 'RUVBL2', 'score': 10.72}, {'connected_gene': 'NUCB1', 'score': 10.38}, {'connected_gene': 'TULP2', 'score': 10.18}, {'connected_gene': 'LHB', 'score': 0.77}, {'connected_gene': 'MIR6798', 'score': 0.77}]