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
ENST00000402254	[[55235968, 55236035], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55377259, 55377364], [55377824, 55377877], [55377976, 55378448]]	[[55236001, 55236035], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55377259, 55377364], [55377824, 55377877], [55377976, 55378186]]
ENST00000538269	[[55235974, 55236035], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55342232]]	[[55236001, 55236035], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55341730]]
ENST00000541392	[[55235977, 55236035], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55340815, 55340920], [55341382, 55341435], [55341553, 55342232]]	[[55236001, 55236035], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55340815, 55340920], [55341382, 55341435], [55341553, 55341730]]
ENST00000391728	[[55327922, 55327989], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55342233]]	[[55327955, 55327989], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55341730]]
ENST00000326542	[[55327941, 55327989], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55340815, 55340920], [55341382, 55341435], [55341553, 55342232]]	[[55327955, 55327989], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55340815, 55340920], [55341382, 55341435], [55341553, 55341730]]
ENST00000358178	[[55327944, 55327989], [55328988, 55329024], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55342233]]	[[55327955, 55327989], [55328988, 55329024], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55341730]]
NM_013289	[[55327892, 55327989], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55342233]]	[[55327955, 55327989], [55328988, 55329024], [55329769, 55330054], [55331167, 55331467], [55333019, 55333313], [55336482, 55336533], [55340815, 55340920], [55341382, 55341435], [55341553, 55341730]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I054695	54695801	54698000	0.75	[{'connected_gene': 'LILRP1', 'score': 550.77}, {'connected_gene': 'KIR3DL3', 'score': 12.26}, {'connected_gene': 'KIR2DL3', 'score': 12.23}, {'connected_gene': 'KIR2DL4', 'score': 12.09}, {'connected_gene': 'KIR3DL1', 'score': 12.08}, {'connected_gene': 'KIR3DX1', 'score': 10.84}, {'connected_gene': 'GP6', 'score': 10.04}, {'connected_gene': 'ENSG00000228790', 'score': 0.44}]
chr19	GH19I054816	54816424	54816483	0.5	[{'connected_gene': 'KIR3DL1', 'score': 550.77}, {'connected_gene': 'KIR2DS4', 'score': 0.37}]
chr19	GH19I054824	54824836	54826009	0.31	[{'connected_gene': 'KIR2DS4', 'score': 0.44}, {'connected_gene': 'KIR3DL1', 'score': 0.44}]
chr19	GH19I054803	54803575	54803634	0.61	[{'connected_gene': 'KIR2DL4', 'score': 550.77}, {'connected_gene': 'KIR3DL1', 'score': 0.39}]
chr19	GH19I054792	54792401	54793400	0.38	[{'connected_gene': 'KIR2DL3', 'score': 11.57}, {'connected_gene': 'KIR3DL1', 'score': 11.33}, {'connected_gene': 'KIR3DL3', 'score': 11.2}, {'connected_gene': 'NLRP2', 'score': 10.98}, {'connected_gene': 'NLRP7', 'score': 10.98}, {'connected_gene': 'ENSG00000243494', 'score': 10.97}, {'connected_gene': 'KIR3DX1', 'score': 10.09}, {'connected_gene': 'EPS8L1', 'score': 9.88}, {'connected_gene': 'RDH13', 'score': 9.88}, {'connected_gene': 'KIR3DP1', 'score': 0.44}, {'connected_gene': 'KIR2DL4', 'score': 0.39}, {'connected_gene': 'ENSG00000215765', 'score': 0.2}]
chr19	GH19I055275	55275707	55277925	0.99	[{'connected_gene': 'HSPBP1', 'score': 17.45}, {'connected_gene': 'KIR3DL2', 'score': 4.31}, {'connected_gene': 'KIR2DS4', 'score': 3.69}, {'connected_gene': 'ZNF628', 'score': 3.16}, {'connected_gene': 'NCR1', 'score': 2.97}, {'connected_gene': 'EPN1', 'score': 2.31}, {'connected_gene': 'PPP6R1', 'score': 2.2}, {'connected_gene': 'KMT5C', 'score': 1.63}, {'connected_gene': 'KIR3DL1', 'score': 1.39}, {'connected_gene': 'GC19M055263', 'score': 0.39}]
chr19	GH19I055626	55626004	55626879	0.96	[{'connected_gene': 'ZNF784', 'score': 550.77}, {'connected_gene': 'FIZ1', 'score': 12.2}, {'connected_gene': 'ZNF524', 'score': 12.17}, {'connected_gene': 'ZNF628', 'score': 11.27}, {'connected_gene': 'TMEM86B', 'score': 9.8}, {'connected_gene': 'KIR3DL1', 'score': 4.93}, {'connected_gene': 'GC19P055633', 'score': 0.44}]