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
ENST00000367660	[[139349818, 139350012], [139355291, 139355358], [139363855, 139364439]]	[[139355297, 139355358], [139363855, 139364040]]
ENST00000461027	[[139349978, 139350012], [139355291, 139355713]]	[[139355297, 139355501]]
NM_021243	[[139349818, 139350012], [139355291, 139355358], [139363855, 139364439]]	[[139355297, 139355358], [139363855, 139364040]]

Promoter

Chrom	Start	End	Description
chr6	139349586	139349595	CAGE_peak_7_at_C6orf115_5end
chr6	139349616	139349629	CAGE_peak_5_at_C6orf115_5end
chr6	139349636	139349663	CAGE_peak_3_at_C6orf115_5end
chr6	139349817	139349899	CAGE_peak_1_at_C6orf115_5end
chr6	139349903	139349944	CAGE_peak_2_at_C6orf115_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I138957	138957428	138959199	1.03	[{'connected_gene': 'REPS1', 'score': 19.53}, {'connected_gene': 'ABRACL', 'score': 6.06}, {'connected_gene': 'ENSG00000220600', 'score': 0.18}]
chr6	GH06I138969	138969886	138974315	1.25	[{'connected_gene': 'REPS1', 'score': 7.81}, {'connected_gene': 'ABRACL', 'score': 5.04}, {'connected_gene': 'ENSG00000220600', 'score': 0.16}]
chr6	GH06I138993	138993844	138993993	0.46	[{'connected_gene': 'ABRACL', 'score': 5.73}, {'connected_gene': 'REPS1', 'score': 0.44}, {'connected_gene': 'GC06M139027', 'score': 0.29}]
chr6	GH06I138995	138994244	138995190	0.54	[{'connected_gene': 'ABRACL', 'score': 4.91}, {'connected_gene': 'REPS1', 'score': 4.56}, {'connected_gene': 'GC06M139027', 'score': 0.29}]
chr6	GH06I139442	139442135	139442944	0.82	[{'connected_gene': 'ABRACL', 'score': 1.31}, {'connected_gene': 'LINC01625', 'score': 0.29}, {'connected_gene': 'CITED2', 'score': 0.2}]
chr6	GH06I139027	139027288	139031021	2.21	[{'connected_gene': 'ABRACL', 'score': 569.13}, {'connected_gene': 'GC06M139027', 'score': 550.77}, {'connected_gene': 'HECA', 'score': 6.54}, {'connected_gene': 'CCDC28A', 'score': 1.94}, {'connected_gene': 'GC06P139052', 'score': 0.34}]
chr6	GH06I139194	139194787	139195204	0.38	[{'connected_gene': 'ABRACL', 'score': 6.47}, {'connected_gene': 'ENSG00000231329', 'score': 0.26}, {'connected_gene': 'HECA', 'score': 0.22}, {'connected_gene': 'ENSG00000272446', 'score': 0.18}, {'connected_gene': 'TXLNB', 'score': 0.13}]
chr6	GH06I139124	139124504	139127399	1.18	[{'connected_gene': 'ABRACL', 'score': 6.57}, {'connected_gene': 'HECA', 'score': 6.22}, {'connected_gene': 'GC06P139052', 'score': 0.19}]
chr6	GH06I139080	139080644	139080793	0.46	[{'connected_gene': 'ABRACL', 'score': 7.4}, {'connected_gene': 'GC06P139052', 'score': 0.31}, {'connected_gene': 'HECA', 'score': 0.23}]
chr6	GH06I139099	139099667	139100733	0.65	[{'connected_gene': 'ABRACL', 'score': 8.74}, {'connected_gene': 'HECA', 'score': 0.29}, {'connected_gene': 'GC06P139052', 'score': 0.25}]
chr6	GH06I139156	139156395	139157994	0.63	[{'connected_gene': 'ABRACL', 'score': 6.63}, {'connected_gene': 'HECA', 'score': 6.08}, {'connected_gene': 'ENSG00000231329', 'score': 0.18}]
chr6	GH06I138526	138526838	138528593	1.24	[{'connected_gene': 'NHSL1', 'score': 11.42}, {'connected_gene': 'ABRACL', 'score': 4.5}, {'connected_gene': 'ENSG00000274594', 'score': 0.21}, {'connected_gene': 'LOC100129577', 'score': 0.13}]
chr6	GH06I139175	139175444	139175741	0.74	[{'connected_gene': 'HECA', 'score': 12.12}, {'connected_gene': 'REPS1', 'score': 10.96}, {'connected_gene': 'ABRACL', 'score': 6.72}, {'connected_gene': 'ENSG00000231329', 'score': 0.21}, {'connected_gene': 'ENSG00000272446', 'score': 0.15}, {'connected_gene': 'TXLNB', 'score': 0.11}]
chr6	GH06I139131	139131601	139137542	2.4	[{'connected_gene': 'HECA', 'score': 556.68}, {'connected_gene': 'ABRACL', 'score': 6.65}, {'connected_gene': 'TXLNB', 'score': 4.78}, {'connected_gene': 'ECT2L', 'score': 4.33}, {'connected_gene': 'GC06P139052', 'score': 0.18}]
chr6	GH06I139111	139111551	139115105	0.96	[{'connected_gene': 'HECA', 'score': 17.75}, {'connected_gene': 'ECT2L', 'score': 10.01}, {'connected_gene': 'LOC102723690', 'score': 9.25}, {'connected_gene': 'ABRACL', 'score': 6.52}, {'connected_gene': 'REPS1', 'score': 2.04}, {'connected_gene': 'GC06P139052', 'score': 0.21}]
chr6	GH06I138864	138864354	138865253	0.31	[{'connected_gene': 'ECT2L', 'score': 10.36}, {'connected_gene': 'ABRACL', 'score': 5.68}, {'connected_gene': 'GC06M138860', 'score': 0.44}, {'connected_gene': 'ENSG00000220600', 'score': 0.39}]
chr6	GH06I139322	139322727	139326132	1.4	[{'connected_gene': 'TXLNB', 'score': 550.77}, {'connected_gene': 'LOC102723690', 'score': 11.48}, {'connected_gene': 'LINC01625', 'score': 4.79}, {'connected_gene': 'HECA', 'score': 4.29}, {'connected_gene': 'ABRACL', 'score': 1.24}, {'connected_gene': 'LOC100129844', 'score': 0.39}]
chr6	GH06I139289	139289364	139294020	2.15	[{'connected_gene': 'TXLNB', 'score': 607.69}, {'connected_gene': 'LOC102723690', 'score': 11.78}, {'connected_gene': 'CITED2', 'score': 10.11}, {'connected_gene': 'HECA', 'score': 8.48}, {'connected_gene': 'REPS1', 'score': 2.15}, {'connected_gene': 'ABRACL', 'score': 1.58}, {'connected_gene': 'ENSG00000272446', 'score': 0.39}]
chr6	GH06I139185	139185237	139187345	0.31	[{'connected_gene': 'LOC102723690', 'score': 9.56}, {'connected_gene': 'ABRACL', 'score': 6.19}, {'connected_gene': 'HECA', 'score': 5.29}, {'connected_gene': 'TXLNB', 'score': 4.75}, {'connected_gene': 'ENSG00000231329', 'score': 0.23}, {'connected_gene': 'ENSG00000272446', 'score': 0.16}]