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
ENST00000285298	[[56019511, 56019623], [56020871, 56021011], [56022601, 56024192]]	[[56020888, 56021011], [56022601, 56022871]]
ENST00000443449	[[56019655, 56019969], [56020871, 56021011], [56022601, 56022865]]	[[56020888, 56021011], [56022601, 56022865]]
NM_015969	[[56019610, 56019623], [56020871, 56021011], [56022601, 56023034]]	[[56020888, 56021011], [56022601, 56022871]]

Promoter

Chrom	Start	End	Description
chr7	55955139	55955190	CAGE_peak_1_at_ZNF713_5end,CAGE_peak_2_at_MRPS17_5end
chr7	56019534	56019605	CAGE_peak_1_at_MRPS17_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I056091	56091499	56093653	1.32	[{'connected_gene': 'PHKG1', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 28.18}, {'connected_gene': 'NIPSNAP2', 'score': 26.9}, {'connected_gene': 'SUMF2', 'score': 21.16}, {'connected_gene': 'MRPS17', 'score': 10.93}, {'connected_gene': 'PSPHP1', 'score': 8.34}]
chr7	GH07I055962	55962044	55962427	0.49	[{'connected_gene': 'MRPS17', 'score': 1.78}, {'connected_gene': 'NIPSNAP2', 'score': 1.77}, {'connected_gene': 'CCT6A', 'score': 1.64}, {'connected_gene': 'PIR39528', 'score': 0.29}]
chr7	GH07I055641	55641308	55641697	0.74	[{'connected_gene': 'MRPS17', 'score': 10.94}, {'connected_gene': 'NIPSNAP2', 'score': 10.94}, {'connected_gene': 'CHCHD2', 'score': 5.32}, {'connected_gene': 'CDC42P2', 'score': 0.77}, {'connected_gene': 'TUBBP6', 'score': 0.77}]
chr7	GH07I056100	56100989	56101236	0.39	[{'connected_gene': 'MRPS17', 'score': 10.1}, {'connected_gene': 'NIPSNAP2', 'score': 10.1}, {'connected_gene': 'ZNF713', 'score': 3.07}, {'connected_gene': 'PHKG1', 'score': 0.44}, {'connected_gene': 'CHCHD2', 'score': 0.44}]
chr7	GH07I056906	56906678	56907271	0.2	[{'connected_gene': 'MRPS17', 'score': 6.61}, {'connected_gene': 'PIR50988', 'score': 0.39}, {'connected_gene': 'LOC100130849', 'score': 0.34}]
chr7	GH07I056082	56082708	56082929	0.2	[{'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.39}, {'connected_gene': 'SUMF2', 'score': 0.37}]
chr7	GH07I055970	55970208	55971898	0.46	[{'connected_gene': 'ZNF713', 'score': 20.35}, {'connected_gene': 'SUMF2', 'score': 15.51}, {'connected_gene': 'NIPSNAP2', 'score': 12.62}, {'connected_gene': 'CHCHD2', 'score': 12.31}, {'connected_gene': 'PHKG1', 'score': 11.07}, {'connected_gene': 'PSPHP1', 'score': 10.14}, {'connected_gene': 'MRPS17', 'score': 0.37}, {'connected_gene': 'PIR39528', 'score': 0.34}]
chr7	GH07I055951	55951248	55952801	2.01	[{'connected_gene': 'NIPSNAP2', 'score': 561.16}, {'connected_gene': 'MRPS17', 'score': 550.77}, {'connected_gene': 'SUMF2', 'score': 16.18}, {'connected_gene': 'CHCHD2', 'score': 15.72}, {'connected_gene': 'ZNF713', 'score': 13.98}, {'connected_gene': 'PIR39528', 'score': 0.26}, {'connected_gene': 'ENSG00000249773', 'score': 0.21}]
chr7	GH07I055977	55977488	55978394	0.62	[{'connected_gene': 'NIPSNAP2', 'score': 24.31}, {'connected_gene': 'MRPS17', 'score': 12.05}, {'connected_gene': 'PIR39528', 'score': 0.39}]
chr7	GH07I055999	55999490	56000918	1.07	[{'connected_gene': 'NIPSNAP2', 'score': 23.57}, {'connected_gene': 'CHCHD2', 'score': 12.51}, {'connected_gene': 'PHKG1', 'score': 11.41}, {'connected_gene': 'MRPS17', 'score': 11.28}, {'connected_gene': 'SUMF2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.44}, {'connected_gene': 'PSPH', 'score': 0.23}]
chr7	GH07I055996	55996419	55997834	0.82	[{'connected_gene': 'NIPSNAP2', 'score': 20.45}, {'connected_gene': 'ZNF713', 'score': 20.31}, {'connected_gene': 'CHCHD2', 'score': 12.48}, {'connected_gene': 'MRPS17', 'score': 11.42}, {'connected_gene': 'PHKG1', 'score': 11.4}, {'connected_gene': 'PIR39528', 'score': 0.77}, {'connected_gene': 'PSPH', 'score': 0.23}]
chr7	GH07I055963	55963419	55967284	1.95	[{'connected_gene': 'NIPSNAP2', 'score': 562.55}, {'connected_gene': 'ZNF713', 'score': 19.1}, {'connected_gene': 'SUMF2', 'score': 15.01}, {'connected_gene': 'CHCHD2', 'score': 12.46}, {'connected_gene': 'PSPHP1', 'score': 8.35}, {'connected_gene': 'MRPS17', 'score': 0.39}, {'connected_gene': 'PIR39528', 'score': 0.31}]
chr7	GH07I056004	56004330	56011082	1.16	[{'connected_gene': 'NIPSNAP2', 'score': 22.25}, {'connected_gene': 'SUMF2', 'score': 21.39}, {'connected_gene': 'CCT6A', 'score': 12.45}, {'connected_gene': 'PHKG1', 'score': 11.67}, {'connected_gene': 'LOC154937', 'score': 11.38}, {'connected_gene': 'MRPS17', 'score': 11.06}, {'connected_gene': 'PSPHP1', 'score': 11.04}, {'connected_gene': 'ZNF713', 'score': 6.48}, {'connected_gene': 'NUPR2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.37}, {'connected_gene': 'PSPH', 'score': 0.26}]
chr7	GH07I056078	56078977	56080833	0.9	[{'connected_gene': 'NIPSNAP2', 'score': 23.2}, {'connected_gene': 'SUMF2', 'score': 19.88}, {'connected_gene': 'CHCHD2', 'score': 15.84}, {'connected_gene': 'PSPHP1', 'score': 12.29}, {'connected_gene': 'MRPS17', 'score': 10.62}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7	GH07I056083	56083228	56083973	0.49	[{'connected_gene': 'SUMF2', 'score': 21.31}, {'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.44}]
chr7	GH07I056059	56059583	56065784	2.01	[{'connected_gene': 'SUMF2', 'score': 571.66}, {'connected_gene': 'NIPSNAP2', 'score': 24.79}, {'connected_gene': 'CHCHD2', 'score': 16.34}, {'connected_gene': 'PHKG1', 'score': 11.42}, {'connected_gene': 'PSPHP1', 'score': 11.14}, {'connected_gene': 'MRPS17', 'score': 10.21}, {'connected_gene': 'PSPH', 'score': 6.21}, {'connected_gene': 'SNORA15', 'score': 0.77}, {'connected_gene': 'GC07P056082', 'score': 0.77}, {'connected_gene': 'CCT6A', 'score': 0.39}]
chr7	GH07I056880	56880660	56881264	0.2	[{'connected_gene': 'LOC100130849', 'score': 550.77}, {'connected_gene': 'MRPS17', 'score': 6.71}, {'connected_gene': 'TNRC18P3', 'score': 4.93}, {'connected_gene': 'GC07P056910', 'score': 0.44}, {'connected_gene': 'GC07P056909', 'score': 0.44}, {'connected_gene': 'GC07P056911', 'score': 0.44}, {'connected_gene': 'PIR41946', 'score': 0.44}]
chr7	GH07I055593	55593263	55594088	0.77	[{'connected_gene': 'ENSG00000231394', 'score': 550.77}, {'connected_gene': 'ENSG00000233977', 'score': 550.77}, {'connected_gene': 'MRPS17', 'score': 10.48}, {'connected_gene': 'NIPSNAP2', 'score': 10.48}, {'connected_gene': 'LOC105375287', 'score': 0.44}]