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
ENST00000368281	[[127761487, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127772361]]	None
ENST00000465254	[[127762192, 127765427], [127768016, 127768230]]	[[127765374, 127765427], [127768016, 127768230]]
ENST00000483725	[[127764391, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775246], [127780319, 127780536]]	[[127765253, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775126]]
ENST00000487331	[[127768742, 127768885], [127770966, 127771046], [127771134, 127771497], [127772426, 127772462], [127774991, 127775246], [127780319, 127780510]]	[[127768742, 127768885], [127770966, 127771046], [127771134, 127771497], [127772426, 127772462], [127774991, 127775126]]
ENST00000472335	[[127771190, 127771497], [127774991, 127775387]]	None
NM_014702	[[127759550, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775246], [127780319, 127780535]]	[[127765253, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775126]]

Promoter

Chrom	Start	End	Description
chr6	127780484	127780494	CAGE_peak_4_at_KIAA0408_5end
chr6	127780511	127780539	CAGE_peak_1_at_KIAA0408_5end
chr6	127780566	127780578	CAGE_peak_2_at_KIAA0408_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I127456	127456056	127460203	1.64	[{'connected_gene': 'KIAA0408', 'score': 559.97}, {'connected_gene': 'ECHDC1', 'score': 12.96}, {'connected_gene': 'GC06P127437', 'score': 0.34}, {'connected_gene': 'ENSG00000255330', 'score': 0.21}, {'connected_gene': 'SOGA3', 'score': 0.21}]
chr6	GH06I127346	127346801	127347766	1.09	[{'connected_gene': 'KIAA0408', 'score': 9.96}, {'connected_gene': 'ECHDC1', 'score': 5.95}, {'connected_gene': 'YWHAZP4', 'score': 0.44}]
chr6	GH06I127514	127514401	127517200	1.13	[{'connected_gene': 'KIAA0408', 'score': 22.26}, {'connected_gene': 'ENSG00000255330', 'score': 0.77}, {'connected_gene': 'SOGA3', 'score': 0.77}, {'connected_gene': 'PIR32248', 'score': 0.28}]
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	GH06I127301	127301245	127301405	0.2	[{'connected_gene': 'KIAA0408', 'score': 10.59}, {'connected_gene': 'LOC105377994', 'score': 0.77}, {'connected_gene': 'RNA5SP217', 'score': 0.37}, {'connected_gene': 'ECHDC1', 'score': 0.26}]
chr6	GH06I127637	127637804	127638137	0.22	[{'connected_gene': 'KIAA0408', 'score': 10.23}, {'connected_gene': 'LOC100420743', 'score': 0.77}, {'connected_gene': 'ENSG00000218187', 'score': 0.37}]
chr6	GH06I127398	127397216	127397365	0.2	[{'connected_gene': 'KIAA0408', 'score': 10.55}, {'connected_gene': 'LOC100287856', 'score': 0.37}, {'connected_gene': 'GC06P127375', 'score': 0.34}]
chr6	GH06I127399	127397396	127397565	0.31	[{'connected_gene': 'KIAA0408', 'score': 10.55}, {'connected_gene': 'LOC100287856', 'score': 0.37}, {'connected_gene': 'GC06P127375', 'score': 0.34}]
chr6	GH06I127271	127271069	127273472	0.31	[{'connected_gene': 'ECHDC1', 'score': 15.59}, {'connected_gene': 'KIAA0408', 'score': 10.12}, {'connected_gene': 'RNF146', 'score': 0.44}, {'connected_gene': 'LOC105377994', 'score': 0.34}]
chr6	GH06I127419	127419958	127421504	1.32	[{'connected_gene': 'ECHDC1', 'score': 24.57}, {'connected_gene': 'KIAA0408', 'score': 11.75}, {'connected_gene': 'RNF146', 'score': 2.42}, {'connected_gene': 'LOC100287856', 'score': 0.77}, {'connected_gene': 'RPL17P23', 'score': 0.39}]
chr6	GH06I127397	127397576	127398482	0.84	[{'connected_gene': 'ECHDC1', 'score': 14.1}, {'connected_gene': 'KIAA0408', 'score': 10.55}, {'connected_gene': 'RNF146', 'score': 1.99}, {'connected_gene': 'LOC100287856', 'score': 0.37}, {'connected_gene': 'GC06P127375', 'score': 0.34}]
chr6	GH06I127463	127463049	127465668	1.07	[{'connected_gene': 'ECHDC1', 'score': 8.77}, {'connected_gene': 'KIAA0408', 'score': 0.77}, {'connected_gene': 'GC06P127475', 'score': 0.39}, {'connected_gene': 'ENSG00000255330', 'score': 0.23}, {'connected_gene': 'SOGA3', 'score': 0.23}]
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	GH06I127352	127352055	127353907	0.31	[{'connected_gene': 'ECHDC1', 'score': 14.86}, {'connected_gene': 'KIAA0408', 'score': 11.1}, {'connected_gene': 'YWHAZP4', 'score': 0.77}]
chr6	GH06I127345	127345801	127346000	0.66	[{'connected_gene': 'ECHDC1', 'score': 564.95}, {'connected_gene': 'KIAA0408', 'score': 9.96}, {'connected_gene': 'YWHAZP4', 'score': 0.44}]
chr6	GH06I127299	127299621	127301165	0.86	[{'connected_gene': 'ECHDC1', 'score': 14.22}, {'connected_gene': 'KIAA0408', 'score': 10.59}, {'connected_gene': 'LOC105377994', 'score': 0.77}, {'connected_gene': 'RNA5SP217', 'score': 0.37}]
chr6	GH06I127336	127336102	127337173	0.31	[{'connected_gene': 'ECHDC1', 'score': 14.64}, {'connected_gene': 'KIAA0408', 'score': 9.71}, {'connected_gene': 'GC06P127344', 'score': 0.44}, {'connected_gene': 'RNA5SP217', 'score': 0.37}, {'connected_gene': 'LOC105377994', 'score': 0.28}]
chr6	GH06I127331	127331717	127334600	1.04	[{'connected_gene': 'ECHDC1', 'score': 15.9}, {'connected_gene': 'KIAA0408', 'score': 10.03}, {'connected_gene': 'GC06P127344', 'score': 0.39}, {'connected_gene': 'RNA5SP217', 'score': 0.37}, {'connected_gene': 'LOC105377994', 'score': 0.28}]
chr6	GH06I127390	127390050	127392701	0.2	[{'connected_gene': 'ECHDC1', 'score': 16.6}, {'connected_gene': 'KIAA0408', 'score': 10.82}, {'connected_gene': 'GC06P127375', 'score': 0.37}, {'connected_gene': 'LOC100287856', 'score': 0.31}]
chr6	GH06I127365	127365473	127367955	1.22	[{'connected_gene': 'ECHDC1', 'score': 14.77}, {'connected_gene': 'YWHAZP4', 'score': 10.69}, {'connected_gene': 'KIAA0408', 'score': 10.42}, {'connected_gene': 'RPL5P18', 'score': 0.77}, {'connected_gene': 'GC06P127373', 'score': 0.44}]
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	GH06I127317	127317001	127318000	0.69	[{'connected_gene': 'RNA5SP217', 'score': 550.77}, {'connected_gene': 'ECHDC1', 'score': 15.82}, {'connected_gene': 'KIAA0408', 'score': 9.52}, {'connected_gene': 'LOC105377994', 'score': 0.34}]
chr6	GH06I127446	127446456	127446605	0.43	[{'connected_gene': 'GC06P127437', 'score': 0.39}, {'connected_gene': 'KIAA0408', 'score': 0.39}, {'connected_gene': 'ENSG00000255330', 'score': 0.19}, {'connected_gene': 'SOGA3', 'score': 0.19}]