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
ENST00000513613	[[122179133, 122179310], [122272428, 122272512], [122281749, 122281854], [122318712, 122318790], [122333902, 122334009]]	None
ENST00000511211	[[122179926, 122180230], [122272428, 122272512], [122281749, 122281854], [122335606, 122335679]]	None
ENST00000261369	[[122181143, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122344907]]	[[122181328, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122343444]]
ENST00000513881	[[122181212, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337775], [122343376, 122344305]]	[[122181328, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337737]]
ENST00000395451	[[122181299, 122181388], [122226721, 122226820], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122343856]]	[[122181328, 122181388], [122226721, 122226820], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122343444]]
ENST00000506996	[[122181320, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337837]]	[[122181328, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337737]]
ENST00000511545	[[122181357, 122181388], [122189368, 122189462], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122343477]]	[[122181357, 122181388], [122189368, 122189404]]
ENST00000502387	[[122272427, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122364932, 122365049]]	None
ENST00000503149	[[122272428, 122272512], [122281749, 122281854], [122301137, 122301216], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122343469]]	[[122272428, 122272512], [122281749, 122281854], [122301137, 122301155]]
ENST00000510914	[[122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122358001, 122358122], [122364932, 122365045]]	None
ENST00000507364	[[122284290, 122284341], [122335606, 122335701], [122337099, 122337132], [122337634, 122337840]]	None
ENST00000515729	[[122333963, 122334032], [122335606, 122335701], [122337099, 122337132], [122337634, 122337837]]	None
NM_014035	[[122181159, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122344902]]	[[122181328, 122181388], [122272428, 122272512], [122281749, 122281854], [122335606, 122335701], [122337099, 122337132], [122337634, 122337699], [122343376, 122343444]]

Promoter

Chrom	Start	End	Description
chr5	122179976	122179996	CAGE_peak_8_at_SNX24_5end
chr5	122181070	122181075	CAGE_peak_6_at_SNX24_5end
chr5	122181077	122181088	CAGE_peak_3_at_SNX24_5end
chr5	122181128	122181143	CAGE_peak_2_at_SNX24_5end
chr5	122181147	122181154	CAGE_peak_4_at_SNX24_5end
chr5	122181184	122181190	CAGE_peak_5_at_SNX24_5end
chr5	122181279	122181317	CAGE_peak_1_at_SNX24_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I122701	122701317	122703229	1.17	[{'connected_gene': 'SNX2', 'score': 18.21}, {'connected_gene': 'PRDM6', 'score': 7.66}, {'connected_gene': 'RN7SL689P', 'score': 7.6}, {'connected_gene': 'ENSG00000260686', 'score': 7.56}, {'connected_gene': 'SNX24', 'score': 5.92}, {'connected_gene': 'GC05M122721', 'score': 0.34}, {'connected_gene': 'LINC02201', 'score': 0.31}, {'connected_gene': 'ARGFXP1', 'score': 0.31}]
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	GH05I122852	122852866	122853015	0.43	[{'connected_gene': 'SNX2', 'score': 9.94}, {'connected_gene': 'GC05M122843', 'score': 0.44}, {'connected_gene': 'SNX24', 'score': 0.44}, {'connected_gene': 'GC05P122965', 'score': 0.14}]
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	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	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	GH05I122877	122877401	122877800	0.38	[{'connected_gene': 'SNX24', 'score': 10.56}, {'connected_gene': 'SNX2', 'score': 10.26}, {'connected_gene': 'GC05M122843', 'score': 0.29}, {'connected_gene': 'GC05P122965', 'score': 0.17}]
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	GH05I122842	122842083	122842236	0.37	[{'connected_gene': 'SNX24', 'score': 550.77}, {'connected_gene': 'LOC105379154', 'score': 0.77}, {'connected_gene': 'ENSG00000260686', 'score': 0.44}]
chr5	GH05I122741	122741440	122744560	0.46	[{'connected_gene': 'LINC02201', 'score': 9.37}, {'connected_gene': 'ENSG00000260686', 'score': 7.18}, {'connected_gene': 'SNX24', 'score': 5.28}, {'connected_gene': 'SNX2', 'score': 0.29}]
chr5	GH05I122811	122811826	122813386	0.54	[{'connected_gene': 'ENSG00000260686', 'score': 27.16}, {'connected_gene': 'SNX2', 'score': 21.3}, {'connected_gene': 'CEP120', 'score': 19.58}, {'connected_gene': 'SNX24', 'score': 19.56}, {'connected_gene': 'RN7SL689P', 'score': 15.58}, {'connected_gene': 'KRT8P33', 'score': 10.5}, {'connected_gene': 'ZNF474', 'score': 9.91}, {'connected_gene': 'LOC105379152', 'score': 4.55}, {'connected_gene': 'LOC105379154', 'score': 0.29}]
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}]
chr5	GH05I122977	122977400	122977666	0.51	[{'connected_gene': 'GC05P122965', 'score': 0.39}, {'connected_gene': 'GC05P123012', 'score': 0.29}, {'connected_gene': 'SNX24', 'score': 0.12}]
chr5	GH05I122918	122918993	122919229	0.4	[{'connected_gene': 'GC05P122965', 'score': 0.25}, {'connected_gene': 'GC05M122843', 'score': 0.19}, {'connected_gene': 'SNX24', 'score': 0.18}]
chr5	GH05I122755	122755748	122757191	0.91	[{'connected_gene': 'ENSG00000260686', 'score': 9.57}, {'connected_gene': 'RN7SL689P', 'score': 5.62}, {'connected_gene': 'SNX24', 'score': 4.92}, {'connected_gene': 'SNX2', 'score': 0.37}, {'connected_gene': 'LINC02201', 'score': 0.31}]