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
ENST00000306442	[[122358944, 122359698], [122361478, 122361663], [122364469, 122364563], [122364999, 122365113], [122372203, 122372436]]	[[122359569, 122359698], [122361478, 122361663], [122364469, 122364563], [122364999, 122365113], [122372203, 122372320]]
ENST00000415659	[[122364187, 122365113], [122372203, 122372420]]	None
NM_000943	[[122359077, 122359698], [122361478, 122361663], [122364469, 122364563], [122364999, 122365113], [122372203, 122372425]]	[[122359569, 122359698], [122361478, 122361663], [122364469, 122364563], [122364999, 122365113], [122372203, 122372320]]

Promoter

Chrom	Start	End	Description
chr5	122372354	122372440	CAGE_peak_1_at_PPIC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I122750	122750850	122753695	1.07	[{'connected_gene': 'SNX2', 'score': 12.23}, {'connected_gene': 'SNX24', 'score': 10.42}, {'connected_gene': 'ENSG00000260686', 'score': 10.31}, {'connected_gene': 'PRDM6', 'score': 8.57}, {'connected_gene': 'PPIC', 'score': 7.59}, {'connected_gene': 'LINC02201', 'score': 6.3}, {'connected_gene': 'RN7SL689P', 'score': 5.82}]
chr5	GH05I122773	122773746	122777756	2.23	[{'connected_gene': 'SNX2', 'score': 585.32}, {'connected_gene': 'CEP120', 'score': 31.21}, {'connected_gene': 'CSNK1G3', 'score': 22.92}, {'connected_gene': 'SRFBP1', 'score': 21.05}, {'connected_gene': 'KRT8P33', 'score': 12.87}, {'connected_gene': 'LOX', 'score': 11.13}, {'connected_gene': 'ENSG00000260686', 'score': 10.75}, {'connected_gene': 'PRDM6', 'score': 9.17}, {'connected_gene': 'PPIC', 'score': 8.02}, {'connected_gene': 'RN7SL689P', 'score': 4.61}]
chr5	GH05I122848	122848645	122850992	0.92	[{'connected_gene': 'SNX2', 'score': 24.4}, {'connected_gene': 'KRT8P33', 'score': 12.39}, {'connected_gene': 'CEP120', 'score': 10.0}, {'connected_gene': 'PPIC', 'score': 8.15}, {'connected_gene': 'ENSG00000260686', 'score': 7.14}, {'connected_gene': 'SNX24', 'score': 6.48}, {'connected_gene': 'GC05M122843', 'score': 0.77}, {'connected_gene': 'GC05P122965', 'score': 0.13}]
chr5	GH05I123035	123035366	123037910	1.96	[{'connected_gene': 'PPIC', 'score': 567.06}, {'connected_gene': 'PRDM6', 'score': 561.8}, {'connected_gene': 'ENSG00000249996', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 14.34}, {'connected_gene': 'KRT8P33', 'score': 12.41}, {'connected_gene': 'CEP120', 'score': 10.02}, {'connected_gene': 'ENSG00000260686', 'score': 8.35}]
chr5	GH05I123119	123119160	123120055	1.05	[{'connected_gene': 'PPIC', 'score': 12.29}, {'connected_gene': 'PRDM6', 'score': 4.44}, {'connected_gene': 'GC05P123133', 'score': 0.39}, {'connected_gene': 'LOC105379152', 'score': 0.31}]
chr5	GH05I122794	122794519	122799551	0.46	[{'connected_gene': 'PPIC', 'score': 16.18}, {'connected_gene': 'ENSG00000260686', 'score': 12.52}, {'connected_gene': 'SNX2', 'score': 11.02}, {'connected_gene': 'PRDM6', 'score': 9.26}, {'connected_gene': 'RN7SL689P', 'score': 8.16}, {'connected_gene': 'LOC105379152', 'score': 4.08}, {'connected_gene': 'LOC105379154', 'score': 0.25}]
chr5	GH05I122772	122772259	122772924	0.66	[{'connected_gene': 'PPIC', 'score': 7.7}, {'connected_gene': 'SNX24', 'score': 3.96}, {'connected_gene': 'SNX2', 'score': 3.51}, {'connected_gene': 'LINC02201', 'score': 0.26}]
chr5	GH05I122986	122986689	122986894	0.49	[{'connected_gene': 'PPIC', 'score': 14.6}, {'connected_gene': 'GC05P122965', 'score': 0.34}, {'connected_gene': 'GC05P123012', 'score': 0.31}, {'connected_gene': 'SNX24', 'score': 0.11}]
chr5	GH05I123813	123813215	123815944	1.17	[{'connected_gene': 'PPIC', 'score': 12.14}, {'connected_gene': 'GC05P123829', 'score': 0.39}, {'connected_gene': 'GC05P123744', 'score': 0.19}]
chr5	GH05I122801	122801709	122803782	0.2	[{'connected_gene': 'SNX24', 'score': 11.13}, {'connected_gene': 'SNX2', 'score': 10.81}, {'connected_gene': 'PPIC', 'score': 8.77}, {'connected_gene': 'RN7SL689P', 'score': 7.82}, {'connected_gene': 'LOC105379152', 'score': 4.08}, {'connected_gene': 'ENSG00000260686', 'score': 0.31}, {'connected_gene': 'LOC105379154', 'score': 0.26}]
chr5	GH05I122870	122870293	122870995	0.31	[{'connected_gene': 'SNX24', 'score': 17.55}, {'connected_gene': 'PPIC', 'score': 15.42}, {'connected_gene': 'GC05M122843', 'score': 0.31}, {'connected_gene': 'GC05P122965', 'score': 0.16}]
chr5	GH05I122843	122843710	122848491	2.03	[{'connected_gene': 'SNX24', 'score': 563.01}, {'connected_gene': 'GC05M122843', 'score': 550.77}, {'connected_gene': 'LOC105379154', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 37.02}, {'connected_gene': 'KRT8P33', 'score': 21.74}, {'connected_gene': 'PPIC', 'score': 16.37}, {'connected_gene': 'CEP120', 'score': 10.0}, {'connected_gene': 'ENSG00000260686', 'score': 9.92}, {'connected_gene': 'PRDM6', 'score': 9.19}, {'connected_gene': 'RN7SL689P', 'score': 7.21}, {'connected_gene': 'GC05P122965', 'score': 0.13}]
chr5	GH05I123421	123421186	123424826	2.1	[{'connected_gene': 'CEP120', 'score': 575.26}, {'connected_gene': 'SNX2', 'score': 35.86}, {'connected_gene': 'KRT8P33', 'score': 25.21}, {'connected_gene': 'CSNK1G3', 'score': 11.37}, {'connected_gene': 'PRDM6', 'score': 7.01}, {'connected_gene': 'PPIC', 'score': 5.16}]
chr5	GH05I122758	122758709	122761275	0.77	[{'connected_gene': 'CSNK1G3', 'score': 20.62}, {'connected_gene': 'PPIC', 'score': 15.19}, {'connected_gene': 'ENSG00000260686', 'score': 11.56}, {'connected_gene': 'ZNF474', 'score': 11.36}, {'connected_gene': 'CEP120', 'score': 10.04}, {'connected_gene': 'PRDM6', 'score': 9.17}, {'connected_gene': 'RN7SL689P', 'score': 7.52}, {'connected_gene': 'LOC105379152', 'score': 4.62}, {'connected_gene': 'SNX2', 'score': 0.37}, {'connected_gene': 'LINC02201', 'score': 0.31}]
chr5	GH05I122806	122806741	122811367	0.2	[{'connected_gene': 'ENSG00000260686', 'score': 12.9}, {'connected_gene': 'SNX24', 'score': 11.23}, {'connected_gene': 'SNX2', 'score': 10.82}, {'connected_gene': 'PPIC', 'score': 8.19}, {'connected_gene': 'RN7SL689P', 'score': 8.05}, {'connected_gene': 'LOC105379154', 'score': 0.28}]
chr5	GH05I122906	122906641	122908015	0.84	[{'connected_gene': 'ENSG00000260686', 'score': 11.35}, {'connected_gene': 'SNX24', 'score': 6.39}, {'connected_gene': 'PPIC', 'score': 6.28}, {'connected_gene': 'GC05P122965', 'score': 0.22}, {'connected_gene': 'GC05M122843', 'score': 0.21}]