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
ENST00000378585	[[1950779, 1950930], [1956380, 1956493], [1956772, 1956840], [1956956, 1957177], [1959015, 1959098], [1959593, 1959731], [1960549, 1960705], [1960989, 1961201], [1961421, 1962192]]	[[1950862, 1950930], [1956380, 1956493], [1956772, 1956840], [1956956, 1957177], [1959015, 1959098], [1959593, 1959731], [1960549, 1960705], [1960989, 1961201], [1961421, 1961721]]
NM_000815	[[1950767, 1950930], [1956380, 1956493], [1956772, 1956840], [1956956, 1957177], [1959015, 1959098], [1959593, 1959731], [1960549, 1960705], [1960989, 1961201], [1961421, 1962192]]	[[1950862, 1950930], [1956380, 1956493], [1956772, 1956840], [1956956, 1957177], [1959015, 1959098], [1959593, 1959731], [1960549, 1960705], [1960989, 1961201], [1961421, 1961721]]

Promoter

Chrom	Start	End	Description
chr1	1950743	1950748	CAGE_peak_3_at_GABRD_5end
chr1	1950763	1950815	CAGE_peak_1_at_GABRD_5end
chr1	1950820	1950853	CAGE_peak_2_at_GABRD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I002069	2069624	2073970	1.16	[{'connected_gene': 'PRKCZ', 'score': 555.42}, {'connected_gene': 'GC01M002070', 'score': 550.77}, {'connected_gene': 'GABRD', 'score': 11.84}, {'connected_gene': 'LOC105378589', 'score': 11.83}, {'connected_gene': 'CFAP74', 'score': 11.82}, {'connected_gene': 'SCNN1D', 'score': 4.82}, {'connected_gene': 'GC01P002058', 'score': 0.39}]
chr1	GH01I001913	1913726	1921421	2.19	[{'connected_gene': 'TMEM52', 'score': 571.22}, {'connected_gene': 'LOC105378949', 'score': 21.22}, {'connected_gene': 'CALML6', 'score': 14.1}, {'connected_gene': 'CFAP74', 'score': 11.5}, {'connected_gene': 'LOC105378589', 'score': 11.49}, {'connected_gene': 'GABRD', 'score': 11.48}]
chr1	GH01I002020	2020611	2020921	0.35	[{'connected_gene': 'GABRD', 'score': 558.47}, {'connected_gene': 'TMEM240', 'score': 4.01}, {'connected_gene': 'PRKCZ', 'score': 3.64}, {'connected_gene': 'GC01P002026', 'score': 0.44}]
chr1	GH01I002019	2019311	2019370	0.61	[{'connected_gene': 'GABRD', 'score': 550.77}, {'connected_gene': 'GC01P002026', 'score': 0.44}]
chr1	GH01I001906	1906056	1910318	1.84	[{'connected_gene': 'LOC105378949', 'score': 25.5}, {'connected_gene': 'INTS11', 'score': 23.76}, {'connected_gene': 'ENSG00000240731', 'score': 19.77}, {'connected_gene': 'CALML6', 'score': 17.04}, {'connected_gene': 'CCNL2', 'score': 15.1}, {'connected_gene': 'CDK11A', 'score': 13.51}, {'connected_gene': 'LOC100288379', 'score': 13.5}, {'connected_gene': 'C1orf159', 'score': 12.23}, {'connected_gene': 'TMEM52', 'score': 12.17}, {'connected_gene': 'NOC2L', 'score': 12.15}, {'connected_gene': 'GABRD', 'score': 11.53}, {'connected_gene': 'SDF4', 'score': 11.53}, {'connected_gene': 'FAAP20', 'score': 11.2}, {'connected_gene': 'MXRA8', 'score': 10.7}, {'connected_gene': 'ATAD3B', 'score': 10.36}, {'connected_gene': 'CFAP74', 'score': 9.76}, {'connected_gene': 'LOC105378589', 'score': 9.75}, {'connected_gene': 'ISG15', 'score': 4.48}, {'connected_gene': 'MIB2', 'score': 3.87}, {'connected_gene': 'TMEM240', 'score': 2.03}, {'connected_gene': 'SKI', 'score': 1.83}, {'connected_gene': 'PRKCZ', 'score': 1.43}, {'connected_gene': 'GC01M001889', 'score': 0.37}]
chr1	GH01I001922	1922040	1924030	0.79	[{'connected_gene': 'LOC105378949', 'score': 21.2}, {'connected_gene': 'TMEM52', 'score': 18.17}, {'connected_gene': 'CFAP74', 'score': 11.51}, {'connected_gene': 'LOC105378589', 'score': 11.49}, {'connected_gene': 'GABRD', 'score': 11.49}, {'connected_gene': 'GC01P001930', 'score': 0.44}]
chr1	GH01I001989	1989331	1991017	0.98	[{'connected_gene': 'LOC105378589', 'score': 12.93}, {'connected_gene': 'GABRD', 'score': 12.93}, {'connected_gene': 'TMEM52', 'score': 11.89}, {'connected_gene': 'CALML6', 'score': 11.88}, {'connected_gene': 'LOC105378591', 'score': 11.52}, {'connected_gene': 'PRKCZ', 'score': 11.51}, {'connected_gene': 'ENSG00000272512', 'score': 4.77}, {'connected_gene': 'CFAP74', 'score': 0.39}, {'connected_gene': 'PIR40513', 'score': 0.34}]
chr1	GH01I002162	2162619	2163255	0.2	[{'connected_gene': 'PRKCZ-AS1', 'score': 13.36}, {'connected_gene': 'LOC105378589', 'score': 10.93}, {'connected_gene': 'GABRD', 'score': 10.93}, {'connected_gene': 'CFAP74', 'score': 10.92}, {'connected_gene': 'ENSG00000271806', 'score': 5.01}, {'connected_gene': 'GC01P002167', 'score': 0.77}, {'connected_gene': 'GC01M002157', 'score': 0.44}, {'connected_gene': 'PRKCZ', 'score': 0.14}]
chr1	GH01I002025	2025401	2026322	0.38	[{'connected_gene': 'GC01P002026', 'score': 550.77}, {'connected_gene': 'PIR49096', 'score': 550.77}, {'connected_gene': 'LOC105378589', 'score': 7.3}, {'connected_gene': 'GABRD', 'score': 0.44}]