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
ENST00000338257	[[8585673, 8586488], [8587260, 8587430], [8587517, 8587713], [8590362, 8590446], [8591336, 8591485], [8591672, 8591819], [8592221, 8592367], [8595079, 8595249], [8595342, 8595457], [8601135, 8601280], [8601382, 8601481], [8601832, 8601939], [8604830, 8604912], [8606789, 8606875], [8609180, 8609348], [8610533, 8610620], [8612919, 8613006], [8613120, 8613201], [8615043, 8615240], [8615445, 8615578], [8616623, 8616758], [8616916, 8617048], [8618022, 8618112], [8618233, 8618321], [8619360, 8619455], [8619537, 8619627], [8620542, 8620680], [8642190, 8642461]]	[[8586411, 8586488], [8587260, 8587430], [8587517, 8587713], [8590362, 8590446], [8591336, 8591485], [8591672, 8591819], [8592221, 8592367], [8595079, 8595249], [8595342, 8595457], [8601135, 8601280], [8601382, 8601481], [8601832, 8601939], [8604830, 8604912], [8606789, 8606875], [8609180, 8609348], [8610533, 8610620], [8612919, 8613006], [8613120, 8613201], [8615043, 8615240], [8615445, 8615578], [8616623, 8616758], [8616916, 8617048], [8618022, 8618112], [8618233, 8618321], [8619360, 8619455], [8619537, 8619627], [8620542, 8620680], [8642190, 8642193]]
ENST00000600885	[[8587693, 8587713], [8590362, 8590446], [8591336, 8591819], [8592221, 8592271]]	None
ENST00000596245	[[8590109, 8590446], [8591336, 8591506]]	None
ENST00000598005	[[8591335, 8591485], [8591672, 8591819], [8592221, 8592367], [8595079, 8595249], [8595342, 8595457], [8601135, 8601280], [8601382, 8601530], [8601832, 8601939], [8604830, 8604912], [8606796, 8606840]]	[[8592290, 8592367], [8595079, 8595249], [8595342, 8595457], [8601135, 8601280], [8601382, 8601530], [8601832, 8601939], [8604830, 8604912], [8606796, 8606840]]
ENST00000597459	[[8594692, 8594881], [8594958, 8595249], [8595342, 8595346]]	None
ENST00000598797	[[8594923, 8595249], [8595342, 8595368]]	None
ENST00000597222	[[8595082, 8595249], [8595342, 8595457], [8601135, 8601280], [8601382, 8601481], [8601832, 8601939], [8604830, 8604936]]	None
ENST00000602136	[[8605202, 8605347], [8606611, 8606875], [8609180, 8609348], [8610533, 8610620], [8612919, 8612931]]	[[8606785, 8606875], [8609180, 8609348], [8610533, 8610620], [8612919, 8612931]]
ENST00000601502	[[8608951, 8609348], [8610533, 8610602]]	None
ENST00000594977	[[8610326, 8610620], [8612919, 8613006], [8613120, 8613201], [8615039, 8615240], [8615445, 8615578], [8616623, 8616758], [8616916, 8617048], [8618022, 8618112], [8618233, 8618321], [8619360, 8619455], [8619537, 8619627], [8620542, 8620680], [8642190, 8642319]]	None
ENST00000600825	[[8612737, 8613006], [8613120, 8613201], [8615043, 8615216]]	None
ENST00000596937	[[8613181, 8613201], [8615043, 8615297]]	None
ENST00000595191	[[8614463, 8615240], [8615445, 8615540]]	None
ENST00000598529	[[8616306, 8616758], [8616916, 8617048], [8618022, 8618112], [8618233, 8618321], [8619360, 8619448]]	None
ENST00000595325	[[8616549, 8617048], [8618022, 8618112], [8618233, 8618321], [8619360, 8619455], [8619537, 8619627], [8620542, 8620680], [8642190, 8642322]]	None
ENST00000594774	[[8616713, 8616758], [8616916, 8617048], [8618022, 8618321], [8619360, 8619455], [8619537, 8619627], [8620542, 8620680], [8642190, 8642322]]	None
ENST00000598321	[[8618095, 8618112], [8618233, 8618321], [8619360, 8619455], [8619537, 8619627], [8620520, 8620680], [8642190, 8642322]]	[[8619559, 8619627], [8620520, 8620680], [8642190, 8642193]]
ENST00000599123	[[8618105, 8618112], [8618233, 8618321], [8619360, 8619627], [8620542, 8620661]]	None
ENST00000596675	[[8618233, 8618321], [8619360, 8619455], [8619537, 8619585], [8620512, 8620680], [8642190, 8642322]]	[[8618233, 8618321], [8619360, 8619455], [8619537, 8619585], [8620512, 8620680], [8642190, 8642193]]
ENST00000596645	[[8620275, 8620680], [8642190, 8642317]]	None
ENST00000595046	[[8641325, 8642326]]	None
NM_012335	[[8585673, 8586488], [8587260, 8587430], [8587517, 8587713], [8590362, 8590446], [8591336, 8591485], [8591672, 8591819], [8592221, 8592367], [8595079, 8595249], [8595342, 8595457], [8601135, 8601280], [8601382, 8601481], [8601832, 8601939], [8604830, 8604912], [8606789, 8606875], [8609180, 8609348], [8610533, 8610620], [8612919, 8613006], [8613120, 8613201], [8615043, 8615240], [8615445, 8615578], [8616623, 8616758], [8616916, 8617048], [8618022, 8618112], [8618233, 8618321], [8619360, 8619455], [8619537, 8619627], [8620542, 8620680], [8642190, 8642331]]	[[8586411, 8586488], [8587260, 8587430], [8587517, 8587713], [8590362, 8590446], [8591336, 8591485], [8591672, 8591819], [8592221, 8592367], [8595079, 8595249], [8595342, 8595457], [8601135, 8601280], [8601382, 8601481], [8601832, 8601939], [8604830, 8604912], [8606789, 8606875], [8609180, 8609348], [8610533, 8610620], [8612919, 8613006], [8613120, 8613201], [8615043, 8615240], [8615445, 8615578], [8616623, 8616758], [8616916, 8617048], [8618022, 8618112], [8618233, 8618321], [8619360, 8619455], [8619537, 8619627], [8620542, 8620680], [8642190, 8642193]]

Promoter

Chrom	Start	End	Description
chr19	8619431	8619460	CAGE_peak_2_at_MYO1F_5end
chr19	8642289	8642353	CAGE_peak_1_at_MYO1F_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I008511	8511857	8520274	2.55	[{'connected_gene': 'ZNF414', 'score': 572.01}, {'connected_gene': 'XAB2', 'score': 22.13}, {'connected_gene': 'ZNF317', 'score': 21.76}, {'connected_gene': 'MYO1F', 'score': 20.11}, {'connected_gene': 'ZNF177', 'score': 16.48}, {'connected_gene': 'ZNF266', 'score': 13.77}, {'connected_gene': 'PRAM1', 'score': 13.39}, {'connected_gene': 'HNRNPM', 'score': 11.86}, {'connected_gene': 'MAP2K7', 'score': 10.38}, {'connected_gene': 'ENSG00000267273', 'score': 10.09}, {'connected_gene': 'ZNF558', 'score': 10.03}, {'connected_gene': 'ZNF699', 'score': 9.91}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'MARCH2', 'score': 9.19}, {'connected_gene': 'ENSG00000268618', 'score': 0.29}]
chr19	GH19I008521	8521077	8521226	0.62	[{'connected_gene': 'ZNF414', 'score': 8.29}, {'connected_gene': 'ENSG00000268618', 'score': 0.31}, {'connected_gene': 'MYO1F', 'score': 0.22}]
chr19	GH19I008501	8501805	8503850	1.47	[{'connected_gene': 'PRAM1', 'score': 564.32}, {'connected_gene': 'GC19P008503', 'score': 550.77}, {'connected_gene': 'MYO1F', 'score': 15.64}, {'connected_gene': 'ZNF414', 'score': 10.77}, {'connected_gene': 'MARCH2', 'score': 8.65}, {'connected_gene': 'GC19P008487', 'score': 0.37}]
chr19	GH19I008422	8422859	8425159	1.48	[{'connected_gene': 'MARCH2', 'score': 14.62}, {'connected_gene': 'PRAM1', 'score': 4.85}, {'connected_gene': 'MYO1F', 'score': 3.87}, {'connected_gene': 'PIR43177', 'score': 0.77}, {'connected_gene': 'GC19P008426', 'score': 0.77}, {'connected_gene': 'ENSG00000268931', 'score': 0.77}]
chr19	GH19I008524	8524940	8527338	1.73	[{'connected_gene': 'HNRNPM', 'score': 61.65}, {'connected_gene': 'ELAVL1', 'score': 56.28}, {'connected_gene': 'ZNF558', 'score': 55.35}, {'connected_gene': 'ZNF699', 'score': 54.83}, {'connected_gene': 'ZNF317', 'score': 45.14}, {'connected_gene': 'ZNF266', 'score': 44.62}, {'connected_gene': 'ZNF559', 'score': 35.9}, {'connected_gene': 'XAB2', 'score': 33.73}, {'connected_gene': 'ZNF414', 'score': 29.41}, {'connected_gene': 'ENSG00000269300', 'score': 23.74}, {'connected_gene': 'MYO1F', 'score': 20.4}, {'connected_gene': 'MAP2K7', 'score': 20.29}, {'connected_gene': 'LOC100128428', 'score': 11.79}, {'connected_gene': 'ADAMTS10', 'score': 11.59}, {'connected_gene': 'RPS28', 'score': 4.91}, {'connected_gene': 'ENSG00000268618', 'score': 0.34}]
chr19	GH19I008540	8540697	8541362	1.03	[{'connected_gene': 'MYO1F', 'score': 20.74}, {'connected_gene': 'PRAM1', 'score': 6.99}, {'connected_gene': 'MARCH2', 'score': 2.49}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19	GH19I008574	8574752	8578173	1.53	[{'connected_gene': 'MYO1F', 'score': 593.39}, {'connected_gene': 'GC19M008577', 'score': 550.77}, {'connected_gene': 'ENSG00000279396', 'score': 550.77}, {'connected_gene': 'PRAM1', 'score': 10.7}, {'connected_gene': 'ENSG00000267986', 'score': 10.5}, {'connected_gene': 'MARCH2', 'score': 1.91}]
chr19	GH19I008542	8542256	8542567	0.26	[{'connected_gene': 'MYO1F', 'score': 20.82}, {'connected_gene': 'PRAM1', 'score': 5.74}, {'connected_gene': 'RAB11B', 'score': 1.24}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19	GH19I008531	8531986	8532905	0.43	[{'connected_gene': 'MYO1F', 'score': 20.64}, {'connected_gene': 'ADAMTS10', 'score': 11.6}, {'connected_gene': 'ZNF414', 'score': 0.37}, {'connected_gene': 'ENSG00000268618', 'score': 0.37}]
chr19	GH19I008637	8637801	8641251	1.37	[{'connected_gene': 'MYO1F', 'score': 31.26}, {'connected_gene': 'ADAMTS10', 'score': 12.1}, {'connected_gene': 'ACTL9', 'score': 11.65}, {'connected_gene': 'PRAM1', 'score': 5.76}, {'connected_gene': 'LOC100128428', 'score': 4.78}, {'connected_gene': 'LINC01862', 'score': 0.44}, {'connected_gene': 'ENSG00000261866', 'score': 0.28}, {'connected_gene': 'GC19P008677', 'score': 0.28}]
chr19	GH19I008566	8566854	8574398	1.21	[{'connected_gene': 'MYO1F', 'score': 40.23}, {'connected_gene': 'ZNF266', 'score': 19.92}, {'connected_gene': 'HNRNPM', 'score': 19.59}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.19}, {'connected_gene': 'ELAVL1', 'score': 14.3}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'PRAM1', 'score': 11.53}, {'connected_gene': 'MAP2K7', 'score': 10.75}, {'connected_gene': 'CD209', 'score': 10.12}, {'connected_gene': 'ENSG00000267986', 'score': 9.84}, {'connected_gene': 'ZNF426', 'score': 9.73}, {'connected_gene': 'MARCH2', 'score': 3.32}, {'connected_gene': 'RAB11B', 'score': 1.18}, {'connected_gene': 'ENSG00000279396', 'score': 0.44}, {'connected_gene': 'PIR49089', 'score': 0.44}]
chr19	GH19I008578	8578474	8579206	0.89	[{'connected_gene': 'MYO1F', 'score': 550.77}, {'connected_gene': 'GC19M008577', 'score': 550.77}, {'connected_gene': 'ENSG00000267986', 'score': 5.67}]
chr19	GH19I008365	8365601	8368702	1.34	[{'connected_gene': 'RAB11B', 'score': 13.28}, {'connected_gene': 'ENSG00000267510', 'score': 12.05}, {'connected_gene': 'ANGPTL4', 'score': 10.84}, {'connected_gene': 'MARCH2', 'score': 5.85}, {'connected_gene': 'MYO1F', 'score': 5.33}, {'connected_gene': 'MIR4999', 'score': 0.34}]
chr19	GH19I008552	8552857	8553026	0.84	[{'connected_gene': 'ZNF266', 'score': 16.56}, {'connected_gene': 'XAB2', 'score': 15.66}, {'connected_gene': 'ZNF414', 'score': 12.99}, {'connected_gene': 'HNRNPM', 'score': 12.97}, {'connected_gene': 'ZNF317', 'score': 11.98}, {'connected_gene': 'ZNF559', 'score': 11.84}, {'connected_gene': 'ZNF177', 'score': 11.09}, {'connected_gene': 'ZNF699', 'score': 11.01}, {'connected_gene': 'ELAVL1', 'score': 10.58}, {'connected_gene': 'SNAPC2', 'score': 9.81}, {'connected_gene': 'ENSG00000268618', 'score': 0.77}, {'connected_gene': 'PIR49089', 'score': 0.44}, {'connected_gene': 'MYO1F', 'score': 0.34}]
chr19	GH19I008580	8580401	8581251	1.11	[{'connected_gene': 'ENSG00000267986', 'score': 550.77}, {'connected_gene': 'MYO1F', 'score': 0.77}, {'connected_gene': 'ADAMTS10', 'score': 0.31}]
chr19	GH19I008564	8564401	8565600	0.38	[{'connected_gene': 'PIR49089', 'score': 0.77}, {'connected_gene': 'MYO1F', 'score': 0.39}, {'connected_gene': 'ENSG00000279396', 'score': 0.39}]