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
ENST00000339852	[[39687600, 39687959], [39688692, 39688755], [39688841, 39688893], [39689809, 39689905], [39690985, 39691124], [39691255, 39692524]]	[[39687622, 39687959], [39688692, 39688755], [39688841, 39688893], [39689809, 39689905], [39690985, 39691124], [39691255, 39691396]]
NM_001001414	[[39687603, 39687959], [39688692, 39688755], [39688841, 39688893], [39689809, 39689905], [39690985, 39691124], [39691255, 39692522]]	[[39687622, 39687959], [39688692, 39688755], [39688841, 39688893], [39689809, 39689905], [39690985, 39691124], [39691255, 39691396]]

Promoter

Chrom	Start	End	Description
chr19	39687556	39687587	CAGE_peak_2_at_NCCRP1_5end
chr19	39687596	39687612	CAGE_peak_1_at_NCCRP1_5end
chr19	39687865	39687877	CAGE_peak_3_at_NCCRP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I039203	39203981	39204130	0.43	[{'connected_gene': 'SYCN', 'score': 550.77}, {'connected_gene': 'NCCRP1', 'score': 0.44}]
chr19	GH19I039197	39196881	39197030	1.07	[{'connected_gene': 'NCCRP1', 'score': 557.77}, {'connected_gene': 'SUPT5H', 'score': 14.59}, {'connected_gene': 'ZNF780B', 'score': 12.39}, {'connected_gene': 'ZNF780A', 'score': 9.95}, {'connected_gene': 'GC19P039153', 'score': 0.26}]
chr19	GH19I039198	39197881	39198030	0.62	[{'connected_gene': 'NCCRP1', 'score': 550.77}, {'connected_gene': 'SYCN', 'score': 0.44}]
chr19	GH19I039199	39195181	39195510	0.72	[{'connected_gene': 'NCCRP1', 'score': 558.31}, {'connected_gene': 'GC19P039153', 'score': 0.26}]
chr19	GH19I039193	39193841	39194070	0.64	[{'connected_gene': 'NCCRP1', 'score': 8.31}, {'connected_gene': 'GC19P039153', 'score': 0.26}]
chr19	GH19I039196	39196381	39196530	0.2	[{'connected_gene': 'NCCRP1', 'score': 550.77}, {'connected_gene': 'GC19P039153', 'score': 0.26}]
chr19	GH19I039195	39195881	39196030	0.46	[{'connected_gene': 'NCCRP1', 'score': 550.77}, {'connected_gene': 'GC19P039153', 'score': 0.26}]
chr19	GH19I039201	39201901	39201943	0.69	[{'connected_gene': 'HNRNPL', 'score': 31.24}, {'connected_gene': 'PLEKHG2', 'score': 21.87}, {'connected_gene': 'FBL', 'score': 14.13}, {'connected_gene': 'RN7SL566P', 'score': 11.43}, {'connected_gene': 'ENSG00000269688', 'score': 11.0}, {'connected_gene': 'RPS16', 'score': 9.73}, {'connected_gene': 'SYCN', 'score': 0.77}, {'connected_gene': 'NCCRP1', 'score': 0.77}]
chr19	GH19I039187	39187201	39187490	1.07	[{'connected_gene': 'HNRNPL', 'score': 53.93}, {'connected_gene': 'RN7SL566P', 'score': 28.78}, {'connected_gene': 'PAK4', 'score': 25.74}, {'connected_gene': 'FBL', 'score': 24.1}, {'connected_gene': 'PAF1', 'score': 21.89}, {'connected_gene': 'SUPT5H', 'score': 20.71}, {'connected_gene': 'PSMC4', 'score': 19.07}, {'connected_gene': 'ZNF780A', 'score': 18.41}, {'connected_gene': 'PLEKHG2', 'score': 12.93}, {'connected_gene': 'ENSG00000269688', 'score': 11.0}, {'connected_gene': 'ZNF780B', 'score': 10.24}, {'connected_gene': 'SAMD4B', 'score': 10.15}, {'connected_gene': 'ENSG00000268756', 'score': 9.88}, {'connected_gene': 'RPS16', 'score': 9.73}, {'connected_gene': 'NCCRP1', 'score': 0.44}, {'connected_gene': 'GC19P039153', 'score': 0.29}]
chr19	GH19I039165	39165552	39166276	0.81	[{'connected_gene': 'HNRNPL', 'score': 74.79}, {'connected_gene': 'PAK4', 'score': 57.98}, {'connected_gene': 'FBL', 'score': 49.47}, {'connected_gene': 'ZNF780A', 'score': 48.65}, {'connected_gene': 'SUPT5H', 'score': 31.23}, {'connected_gene': 'RN7SL566P', 'score': 30.62}, {'connected_gene': 'EID2B', 'score': 30.42}, {'connected_gene': 'ENSG00000269688', 'score': 21.74}, {'connected_gene': 'ENSG00000269172', 'score': 21.08}, {'connected_gene': 'ZNF546', 'score': 20.55}, {'connected_gene': 'ACTN4', 'score': 20.22}, {'connected_gene': 'ZNF780B', 'score': 19.93}, {'connected_gene': 'SAMD4B', 'score': 11.53}, {'connected_gene': 'PLEKHG2', 'score': 11.15}, {'connected_gene': 'RPS16', 'score': 11.02}, {'connected_gene': 'PSMC4', 'score': 10.62}, {'connected_gene': 'PAF1', 'score': 10.35}, {'connected_gene': 'ENSG00000268756', 'score': 10.1}, {'connected_gene': 'EID2', 'score': 9.97}, {'connected_gene': 'FBXO17', 'score': 9.86}, {'connected_gene': 'GC19P039153', 'score': 0.39}, {'connected_gene': 'NCCRP1', 'score': 0.29}]
chr19	GH19I039200	39198719	39200791	0.62	[{'connected_gene': 'ZNF780B', 'score': 11.91}, {'connected_gene': 'NCCRP1', 'score': 8.98}, {'connected_gene': 'SYCN', 'score': 0.77}]
chr19	GH19I039162	39162467	39164111	0.63	[{'connected_gene': 'PAK4', 'score': 21.55}, {'connected_gene': 'GC19P039153', 'score': 0.44}, {'connected_gene': 'NCCRP1', 'score': 0.29}]
chr19	GH19I039170	39170271	39171340	0.63	[{'connected_gene': 'PAK4', 'score': 25.37}, {'connected_gene': 'HNRNPL', 'score': 14.14}, {'connected_gene': 'PAF1', 'score': 12.04}, {'connected_gene': 'SUPT5H', 'score': 11.65}, {'connected_gene': 'FBXO27', 'score': 10.88}, {'connected_gene': 'RN7SL566P', 'score': 10.57}, {'connected_gene': 'ZNF780A', 'score': 9.72}, {'connected_gene': 'GC19P039153', 'score': 0.37}, {'connected_gene': 'NCCRP1', 'score': 0.31}]
chr19	GH19I039166	39166421	39169948	1.25	[{'connected_gene': 'PAK4', 'score': 47.64}, {'connected_gene': 'HNRNPL', 'score': 17.15}, {'connected_gene': 'FBL', 'score': 14.0}, {'connected_gene': 'NCCRP1', 'score': 13.54}, {'connected_gene': 'SYCN', 'score': 13.51}, {'connected_gene': 'ENSG00000269688', 'score': 12.75}, {'connected_gene': 'ZNF780B', 'score': 11.91}, {'connected_gene': 'FBXO17', 'score': 11.83}, {'connected_gene': 'RPS16', 'score': 11.36}, {'connected_gene': 'ZNF780A', 'score': 10.16}, {'connected_gene': 'RN7SL566P', 'score': 9.92}, {'connected_gene': 'FBXO27', 'score': 8.32}, {'connected_gene': 'GC19P039153', 'score': 0.39}]
chr19	GH19I039153	39153281	39157800	1.48	[{'connected_gene': 'PAK4', 'score': 30.72}, {'connected_gene': 'ENSG00000269172', 'score': 25.22}, {'connected_gene': 'ZNF780B', 'score': 15.54}, {'connected_gene': 'SUPT5H', 'score': 12.0}, {'connected_gene': 'ZNF780A', 'score': 10.66}, {'connected_gene': 'ZNF546', 'score': 10.32}, {'connected_gene': 'PSMC4', 'score': 10.0}, {'connected_gene': 'FBXO27', 'score': 4.58}, {'connected_gene': 'LGALS7B', 'score': 1.98}, {'connected_gene': 'GC19P039153', 'score': 0.77}, {'connected_gene': 'NCCRP1', 'score': 0.26}]
chr19	GH19I039171	39171781	39171930	0.66	[{'connected_gene': 'PAK4', 'score': 11.62}, {'connected_gene': 'FBXO27', 'score': 10.88}, {'connected_gene': 'GC19P039153', 'score': 0.37}, {'connected_gene': 'NCCRP1', 'score': 0.31}]
chr19	GH19I039164	39164316	39165214	0.43	[{'connected_gene': 'ENSG00000269172', 'score': 25.52}, {'connected_gene': 'PAK4', 'score': 4.54}, {'connected_gene': 'GC19P039153', 'score': 0.39}, {'connected_gene': 'NCCRP1', 'score': 0.29}]
chr19	GH19I039158	39158757	39159360	0.79	[{'connected_gene': 'GC19P039153', 'score': 0.44}, {'connected_gene': 'PAK4', 'score': 0.29}, {'connected_gene': 'NCCRP1', 'score': 0.28}]
chr19	GH19I039159	39159723	39161870	1.15	[{'connected_gene': 'ENSG00000269172', 'score': 25.53}, {'connected_gene': 'PAK4', 'score': 19.59}, {'connected_gene': 'FBL', 'score': 12.35}, {'connected_gene': 'FBXO27', 'score': 5.99}, {'connected_gene': 'GC19P039153', 'score': 0.44}, {'connected_gene': 'NCCRP1', 'score': 0.28}]