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
ENST00000575156	[[14014013, 14014229], [14015887, 14016068], [14020417, 14020613], [14021884, 14022092], [14024566, 14024747], [14026013, 14027104]]	[[14014022, 14014229], [14015887, 14016068], [14020417, 14020613], [14021884, 14022092], [14024566, 14024747], [14026013, 14026159]]
ENST00000311895	[[14014013, 14014229], [14015887, 14016068], [14020417, 14020613], [14021884, 14022092], [14024566, 14024747], [14026013, 14026142], [14028048, 14028159], [14029002, 14029600], [14031622, 14031715], [14038579, 14038692], [14041470, 14046202]]	[[14014022, 14014229], [14015887, 14016068], [14020417, 14020613], [14021884, 14022092], [14024566, 14024747], [14026013, 14026142], [14028048, 14028159], [14029002, 14029600], [14031622, 14031715], [14038579, 14038692], [14041470, 14042204]]
ENST00000574194	[[14020408, 14020613], [14021978, 14022092], [14024566, 14024747], [14026013, 14026096]]	[[14020408, 14020613], [14021978, 14022000]]
ENST00000574781	[[14021306, 14021512], [14021829, 14022092], [14024566, 14024735]]	None
ENST00000576348	[[14014047, 14014229], [14015887, 14016068], [14020417, 14020658]]	None
ENST00000389138	[[14025882, 14026261], [14028048, 14028159], [14029002, 14029600], [14031622, 14031715], [14038579, 14038692], [14041470, 14042282]]	None
ENST00000573018	[[14027878, 14028159], [14029002, 14029244]]	None
ENST00000462862	[[14031620, 14031715], [14037830, 14037952], [14038579, 14038692], [14041470, 14041861]]	[[14031620, 14031715], [14037830, 14037843]]
NM_005236	[[14014013, 14014229], [14015887, 14016068], [14020417, 14020613], [14021884, 14022092], [14024566, 14024747], [14026013, 14026142], [14028048, 14028159], [14029002, 14029600], [14031622, 14031715], [14038579, 14038692], [14041470, 14046205]]	[[14014022, 14014229], [14015887, 14016068], [14020417, 14020613], [14021884, 14022092], [14024566, 14024747], [14026013, 14026142], [14028048, 14028159], [14029002, 14029600], [14031622, 14031715], [14038579, 14038692], [14041470, 14042204]]

Promoter

Chrom	Start	End	Description
chr16	14013998	14014054	CAGE_peak_1_at_ERCC4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I014545	14545604	14545753	0.92	[{'connected_gene': 'MIR193B', 'score': 10.71}, {'connected_gene': 'ERCC4', 'score': 10.66}, {'connected_gene': 'RPS26P52', 'score': 10.66}, {'connected_gene': 'RN7SL274P', 'score': 0.22}, {'connected_gene': 'LOC105371094', 'score': 0.22}, {'connected_gene': 'PARN', 'score': 0.17}]
chr16	GH16I014497	14497244	14499444	1.28	[{'connected_gene': 'MIR193B', 'score': 11.77}, {'connected_gene': 'RPS26P52', 'score': 9.94}, {'connected_gene': 'ERCC4', 'score': 9.94}, {'connected_gene': 'LOC105371094', 'score': 0.39}, {'connected_gene': 'RN7SL274P', 'score': 0.15}, {'connected_gene': 'PARN', 'score': 0.12}]
chr16	GH16I014500	14500381	14504253	1.44	[{'connected_gene': 'PARN', 'score': 16.63}, {'connected_gene': 'BFAR', 'score': 11.82}, {'connected_gene': 'MIR193B', 'score': 11.73}, {'connected_gene': 'ERCC4', 'score': 9.94}, {'connected_gene': 'RPS26P52', 'score': 9.94}, {'connected_gene': 'LOC100505915', 'score': 6.05}, {'connected_gene': 'LOC105371094', 'score': 0.37}, {'connected_gene': 'RN7SL274P', 'score': 0.15}]
chr16	GH16I013955	13955477	13959297	1.5	[{'connected_gene': 'ERCC4', 'score': 30.93}, {'connected_gene': 'PARN', 'score': 14.05}, {'connected_gene': 'ENSG00000183458', 'score': 13.85}, {'connected_gene': 'NPIPA1', 'score': 13.28}, {'connected_gene': 'NPIPA3', 'score': 13.12}, {'connected_gene': 'BFAR', 'score': 12.19}, {'connected_gene': 'RPS26P52', 'score': 11.12}, {'connected_gene': 'NPIPA2', 'score': 10.48}, {'connected_gene': 'PLA2G10', 'score': 5.83}, {'connected_gene': 'MKL2', 'score': 3.52}, {'connected_gene': 'ENSG00000263234', 'score': 0.77}, {'connected_gene': 'LINC02185', 'score': 0.22}]
chr16	GH16I013919	13919319	13921752	2.04	[{'connected_gene': 'ERCC4', 'score': 562.48}, {'connected_gene': 'GC16M013924', 'score': 0.77}, {'connected_gene': 'LOC105371093', 'score': 0.44}]
chr16	GH16I013909	13909398	13910885	0.99	[{'connected_gene': 'ERCC4', 'score': 10.33}, {'connected_gene': 'LOC105371093', 'score': 0.37}, {'connected_gene': 'ENSG00000262267', 'score': 0.12}]
chr16	GH16I013959	13959653	13961771	0.74	[{'connected_gene': 'ERCC4', 'score': 15.68}, {'connected_gene': 'RPS26P52', 'score': 11.1}, {'connected_gene': 'PLA2G10', 'score': 4.49}, {'connected_gene': 'ENSG00000263234', 'score': 0.44}, {'connected_gene': 'LINC02185', 'score': 0.22}]
chr16	GH16I013940	13940255	13941012	0.64	[{'connected_gene': 'ERCC4', 'score': 21.34}, {'connected_gene': 'ENSG00000262732', 'score': 0.77}, {'connected_gene': 'ENSG00000263234', 'score': 0.39}]
chr16	GH16I014095	14095025	14098789	1.12	[{'connected_gene': 'LOC100505915', 'score': 91.64}, {'connected_gene': 'PARN', 'score': 82.86}, {'connected_gene': 'ENSG00000183458', 'score': 57.49}, {'connected_gene': 'RRN3', 'score': 51.93}, {'connected_gene': 'NPIPA3', 'score': 32.04}, {'connected_gene': 'NPIPA1', 'score': 31.77}, {'connected_gene': 'NPIPA2', 'score': 22.35}, {'connected_gene': 'ERCC4', 'score': 21.96}, {'connected_gene': 'BFAR', 'score': 20.49}, {'connected_gene': 'PDXDC1', 'score': 18.33}, {'connected_gene': 'ENSG00000207425', 'score': 10.79}, {'connected_gene': 'ENSG00000261819', 'score': 9.78}, {'connected_gene': 'MKL2', 'score': 0.31}, {'connected_gene': 'ENSG00000276564', 'score': 0.23}]
chr16	GH16I014740	14740971	14743400	0.59	[{'connected_gene': 'LOC100505915', 'score': 30.42}, {'connected_gene': 'PARN', 'score': 22.62}, {'connected_gene': 'ERCC4', 'score': 13.74}, {'connected_gene': 'NPIPA3', 'score': 11.78}, {'connected_gene': 'NPIPA1', 'score': 11.53}, {'connected_gene': 'NPIPA5', 'score': 11.42}, {'connected_gene': 'NPIPA2', 'score': 11.33}, {'connected_gene': 'ENSG00000207425', 'score': 10.86}, {'connected_gene': 'RRN3', 'score': 10.46}, {'connected_gene': 'ENSG00000183458', 'score': 10.04}, {'connected_gene': 'LOC105376747', 'score': 0.77}, {'connected_gene': 'LOC100652777', 'score': 0.44}]
chr16	GH16I013924	13923844	13924033	0.71	[{'connected_gene': 'RPS26P52', 'score': 550.77}, {'connected_gene': 'GC16M013924', 'score': 550.77}, {'connected_gene': 'ERCC4', 'score': 10.39}, {'connected_gene': 'LOC105371093', 'score': 0.77}]
chr16	GH16I013923	13923275	13923752	0.59	[{'connected_gene': 'RPS26P52', 'score': 550.77}, {'connected_gene': 'GC16M013924', 'score': 550.77}, {'connected_gene': 'ERCC4', 'score': 14.11}, {'connected_gene': 'LOC105371093', 'score': 0.77}]
chr16	GH16I014337	14337388	14338339	1.35	[{'connected_gene': 'ENSG00000183458', 'score': 62.68}, {'connected_gene': 'PARN', 'score': 55.3}, {'connected_gene': 'NPIPA2', 'score': 50.94}, {'connected_gene': 'LOC100505915', 'score': 47.26}, {'connected_gene': 'NPIPA3', 'score': 46.99}, {'connected_gene': 'NPIPA1', 'score': 38.34}, {'connected_gene': 'NPIPP1', 'score': 32.83}, {'connected_gene': 'ERCC4', 'score': 28.38}, {'connected_gene': 'ENSG00000261819', 'score': 23.16}, {'connected_gene': 'PKD1P6', 'score': 22.41}, {'connected_gene': 'RRN3', 'score': 21.64}, {'connected_gene': 'BFAR', 'score': 13.12}, {'connected_gene': 'MIR193B', 'score': 12.12}, {'connected_gene': 'ENSG00000262732', 'score': 11.42}, {'connected_gene': 'NOMO1', 'score': 5.96}, {'connected_gene': 'GC16M014339', 'score': 0.77}, {'connected_gene': 'GC16P014313', 'score': 0.31}]
chr16	GH16I013779	13779761	13779962	0.97	[{'connected_gene': 'ENSG00000262267', 'score': 550.77}, {'connected_gene': 'ERCC4', 'score': 0.11}]
chr16	GH16I013780	13780037	13782730	0.68	[{'connected_gene': 'ENSG00000262267', 'score': 550.77}, {'connected_gene': 'ERCC4', 'score': 0.12}]
chr16	GH16I013936	13936295	13937837	0.9	[{'connected_gene': 'ENSG00000262732', 'score': 550.77}, {'connected_gene': 'ERCC4', 'score': 12.03}, {'connected_gene': 'ENSG00000263234', 'score': 0.37}]
chr16	GH16I013829	13829219	13829976	0.57	[{'connected_gene': 'ENSG00000262267', 'score': 0.25}, {'connected_gene': 'ERCC4', 'score': 0.16}]