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

Promoter

Chrom	Start	End	Description
chr12	102513950	102513996	CAGE_peak_1_at_C12orf48_5end
chr12	102513998	102514017	CAGE_peak_2_at_C12orf48_5end
chr12	102514019	102514035	CAGE_peak_3_at_C12orf48_5end
chr12	102514153	102514168	CAGE_peak_4_at_C12orf48_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I102118	102118901	102122172	2.09	[{'connected_gene': 'NUP37', 'score': 560.99}, {'connected_gene': 'PARPBP', 'score': 560.45}, {'connected_gene': 'WASHC3', 'score': 19.86}, {'connected_gene': 'ENSG00000257222', 'score': 19.02}, {'connected_gene': 'PMCH', 'score': 10.74}, {'connected_gene': 'HELLPAR', 'score': 0.18}]
chr12	GH12I101875	101875119	101879576	2.38	[{'connected_gene': 'DRAM1', 'score': 577.07}, {'connected_gene': 'ENSG00000257222', 'score': 13.24}, {'connected_gene': 'CHPT1', 'score': 13.14}, {'connected_gene': 'UTP20', 'score': 10.32}, {'connected_gene': 'PARPBP', 'score': 9.8}, {'connected_gene': 'GNPTAB', 'score': 9.8}, {'connected_gene': 'PIR46358', 'score': 0.25}]
chr12	GH12I102119	102118592	102118651	0.5	[{'connected_gene': 'PARPBP', 'score': 550.77}, {'connected_gene': 'NUP37', 'score': 550.77}, {'connected_gene': 'ENSG00000257222', 'score': 0.22}]
chr12	GH12I102415	102415636	102417264	0.82	[{'connected_gene': 'WASHC3', 'score': 19.68}, {'connected_gene': 'IGF1', 'score': 10.85}, {'connected_gene': 'PARPBP', 'score': 4.35}, {'connected_gene': 'GC12M102404', 'score': 0.44}, {'connected_gene': 'GC12M102374', 'score': 0.26}, {'connected_gene': 'LINC02456', 'score': 0.12}]
chr12	GH12I102060	102060617	102062732	2.01	[{'connected_gene': 'WASHC3', 'score': 585.47}, {'connected_gene': 'ENSG00000257222', 'score': 550.77}, {'connected_gene': 'UTP20', 'score': 19.1}, {'connected_gene': 'NUP37', 'score': 12.46}, {'connected_gene': 'PARPBP', 'score': 4.79}, {'connected_gene': 'NENFP2', 'score': 0.15}]
chr12	GH12I101234	101234657	101237366	0.2	[{'connected_gene': 'SLC5A8', 'score': 16.67}, {'connected_gene': 'PARPBP', 'score': 4.45}, {'connected_gene': 'RPS6P19', 'score': 0.44}, {'connected_gene': 'UTP20', 'score': 0.26}]
chr12	GH12I102182	102182119	102183553	0.31	[{'connected_gene': 'HELLPAR', 'score': 0.39}, {'connected_gene': 'PARPBP', 'score': 0.21}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000327680	[[102513955, 102514064], [102517663, 102517819], [102530914, 102531022], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102591298]]	[[102542097, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]
ENST00000378128	[[102513955, 102514064], [102517663, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102589728, 102591298]]	[[102517666, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102589728, 102589801]]
ENST00000541394	[[102513962, 102514064], [102517663, 102517819], [102542007, 102542241], [102545347, 102545578], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590445]]	[[102517666, 102517819], [102542007, 102542241], [102545347, 102545578], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]
ENST00000543784	[[102513972, 102514064], [102517663, 102517819], [102558215, 102558386], [102559506, 102559661], [102589728, 102590146]]	[[102517666, 102517819], [102558215, 102558386], [102559506, 102559661], [102589728, 102589801]]
ENST00000392909	[[102513981, 102514064], [102517663, 102517819], [102542007, 102542241], [102544041, 102544149], [102545347, 102545601]]	[[102517666, 102517819], [102542007, 102542241], [102544041, 102544089]]
ENST00000537257	[[102514022, 102514064], [102517663, 102517819], [102542007, 102542785]]	[[102517666, 102517819], [102542007, 102542256]]
ENST00000358383	[[102514022, 102514064], [102517663, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590370]]	[[102517666, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]
ENST00000392911	[[102514024, 102514064], [102517663, 102517819], [102542012, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590207]]	[[102542097, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]
ENST00000541668	[[102514160, 102514269], [102517663, 102517819], [102542007, 102542241], [102547646, 102547754], [102548604, 102549058]]	None
ENST00000392914	[[102517663, 102517819], [102542007, 102542241], [102545347, 102545790]]	None
ENST00000457614	[[102517765, 102517819], [102547646, 102547767], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102591139]]	[[102517765, 102517819], [102547646, 102547767], [102559506, 102559526]]
ENST00000535811	[[102517765, 102517819], [102589728, 102591139]]	None
ENST00000417507	[[102517765, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102576326, 102576405], [102589728, 102591139]]	[[102517765, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102576326, 102576405], [102589728, 102589737]]
ENST00000412715	[[102517765, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102589728, 102591139]]	[[102517765, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102589728, 102589801]]
NM_001319996	[[102513948, 102514064], [102517663, 102517819], [102542007, 102542785]]	[[102517666, 102517819], [102542007, 102542256]]
NM_001319995	[[102513948, 102514064], [102517663, 102517819], [102520924, 102521077], [102542007, 102542241], [102547646, 102547754], [102558215, 102558698]]	[[102542097, 102542241], [102547646, 102547754], [102558215, 102558458]]
NR_135123	[[102513948, 102514064], [102517663, 102517819], [102558215, 102558386], [102559506, 102559661], [102589728, 102591298]]	None
NM_001319994	[[102513948, 102514064], [102517663, 102517819], [102542012, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102591298]]	[[102542097, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]
NM_017915	[[102513948, 102514064], [102517663, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102591298]]	[[102517666, 102517819], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]
NM_001319988	[[102513948, 102514064], [102517663, 102517819], [102542007, 102542241], [102545347, 102545578], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102591298]]	[[102517666, 102517819], [102542007, 102542241], [102545347, 102545578], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]
NM_001319993	[[102513948, 102514064], [102517663, 102517819], [102530914, 102531022], [102542007, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102591298]]	[[102542097, 102542241], [102547646, 102547754], [102558215, 102558386], [102559506, 102559661], [102569260, 102569444], [102572369, 102572548], [102576326, 102576405], [102589089, 102589225], [102589728, 102590069]]