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
ENST00000498112	[[127840599, 127840716], [127840971, 127841058], [127843158, 127843208], [127891897, 127891973], [127899830, 127899852]]	None
ENST00000329722	[[127898318, 127898631], [127899830, 127899917], [127901409, 127901594], [127902326, 127902427], [127911231, 127911470], [127912687, 127912962]]	[[127898330, 127898631], [127899830, 127899917], [127901409, 127901594], [127902326, 127902427], [127911231, 127911470], [127912687, 127912767]]
NM_001010905	[[127898318, 127898631], [127899830, 127899917], [127901409, 127901594], [127902326, 127902427], [127911231, 127911470], [127912687, 127912963]]	[[127898330, 127898631], [127899830, 127899917], [127901409, 127901594], [127902326, 127902427], [127911231, 127911470], [127912687, 127912767]]

Promoter

Chrom	Start	End	Description
chr6	127898312	127898326	CAGE_peak_1_at_C6orf58_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I127582	127582876	127583025	0.59	[{'connected_gene': 'KIAA0408', 'score': 10.33}, {'connected_gene': 'LOC105377995', 'score': 0.31}, {'connected_gene': 'C6orf58', 'score': 0.21}]
chr6	GH06I127340	127340402	127345054	2.5	[{'connected_gene': 'ECHDC1', 'score': 567.37}, {'connected_gene': 'GC06P127344', 'score': 550.77}, {'connected_gene': 'KIAA0408', 'score': 10.81}, {'connected_gene': 'C6orf58', 'score': 6.49}, {'connected_gene': 'RNA5SP217', 'score': 0.34}, {'connected_gene': 'LOC105377994', 'score': 0.25}]
chr6	GH06I127383	127383456	127387040	0.31	[{'connected_gene': 'ECHDC1', 'score': 15.78}, {'connected_gene': 'C6orf58', 'score': 6.51}, {'connected_gene': 'GC06P127375', 'score': 0.39}, {'connected_gene': 'LOC100287856', 'score': 0.29}]
chr6	GH06I127518	127518336	127519800	1.84	[{'connected_gene': 'SOGA3', 'score': 556.28}, {'connected_gene': 'ENSG00000255330', 'score': 550.77}, {'connected_gene': 'C6orf58', 'score': 550.77}, {'connected_gene': 'KIAA0408', 'score': 20.91}]
chr6	GH06I127481	127481314	127485314	1.24	[{'connected_gene': 'C6orf58', 'score': 20.44}, {'connected_gene': 'KIAA0408', 'score': 12.68}, {'connected_gene': 'ENSG00000255330', 'score': 11.69}, {'connected_gene': 'SOGA3', 'score': 11.69}, {'connected_gene': 'ECHDC1', 'score': 8.54}, {'connected_gene': 'PIR32248', 'score': 0.77}]
chr6	GH06I127577	127577125	127577184	0.5	[{'connected_gene': 'C6orf58', 'score': 561.25}, {'connected_gene': 'LOC105377995', 'score': 0.29}]
chr6	GH06I127586	127586428	127586484	0.41	[{'connected_gene': 'LOC105377995', 'score': 0.34}, {'connected_gene': 'C6orf58', 'score': 0.2}]
chr6	GH06I127571	127571165	127571559	0.48	[{'connected_gene': 'LOC105377995', 'score': 0.28}, {'connected_gene': 'C6orf58', 'score': 0.23}]