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
ENST00000359323	[[102027687, 102029789]]	[[102027911, 102028748]]
ENST00000510508	[[102027687, 102029789]]	[[102027833, 102028748]]
NM_001362	[[102027687, 102029789]]	[[102027833, 102028748]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I100769	100769244	100781991	1.39	[{'connected_gene': 'DLK1', 'score': 10.99}, {'connected_gene': 'MIR1247', 'score': 9.72}, {'connected_gene': 'DIO3', 'score': 9.71}, {'connected_gene': 'EVL', 'score': 6.15}, {'connected_gene': 'MEG3', 'score': 0.77}, {'connected_gene': 'PIR41786', 'score': 0.28}]
chr14	GH14I101300	101300247	101301944	0.31	[{'connected_gene': 'SNORD114-10', 'score': 10.43}, {'connected_gene': 'SNORD114-11', 'score': 10.43}, {'connected_gene': 'SNORD114-12', 'score': 10.43}, {'connected_gene': 'SNORD114-9', 'score': 10.43}, {'connected_gene': 'SNORD114-7', 'score': 10.43}, {'connected_gene': 'MIR431', 'score': 9.77}, {'connected_gene': 'MIR136', 'score': 9.77}, {'connected_gene': 'RTL1', 'score': 9.77}, {'connected_gene': 'MIR433', 'score': 9.77}, {'connected_gene': 'MIR127', 'score': 9.77}, {'connected_gene': 'MIR493', 'score': 9.77}, {'connected_gene': 'MIR337', 'score': 9.77}, {'connected_gene': 'MIR1247', 'score': 9.67}, {'connected_gene': 'DIO3', 'score': 9.67}, {'connected_gene': 'SNORD113-9', 'score': 9.5}, {'connected_gene': 'SNORD114-1', 'score': 9.5}, {'connected_gene': 'SNORD114-2', 'score': 9.5}, {'connected_gene': 'MEG8', 'score': 9.5}, {'connected_gene': 'ENSG00000258460', 'score': 0.29}, {'connected_gene': 'GC14P103298', 'score': 0.28}]
chr14	GH14I101008	101008624	101008773	0.2	[{'connected_gene': 'MIR487A', 'score': 11.05}, {'connected_gene': 'MIR485', 'score': 11.04}, {'connected_gene': 'MIR134', 'score': 11.04}, {'connected_gene': 'MIR323B', 'score': 11.04}, {'connected_gene': 'MIR154', 'score': 11.02}, {'connected_gene': 'MIR377', 'score': 11.02}, {'connected_gene': 'MIR496', 'score': 11.02}, {'connected_gene': 'MIR654', 'score': 10.91}, {'connected_gene': 'MIR376C', 'score': 10.91}, {'connected_gene': 'MIR300', 'score': 10.91}, {'connected_gene': 'MIR1185-1', 'score': 10.91}, {'connected_gene': 'MIR381', 'score': 10.9}, {'connected_gene': 'MIR544A', 'score': 10.9}, {'connected_gene': 'MIR539', 'score': 10.9}, {'connected_gene': 'MIR889', 'score': 10.9}, {'connected_gene': 'MIR1185-2', 'score': 10.9}, {'connected_gene': 'MIR487B', 'score': 10.9}, {'connected_gene': 'MIR655', 'score': 10.88}, {'connected_gene': 'SNORD114-2', 'score': 10.06}, {'connected_gene': 'SNORD114-1', 'score': 10.06}, {'connected_gene': 'SNORD113-9', 'score': 10.05}, {'connected_gene': 'MEG8', 'score': 9.97}, {'connected_gene': 'MIR1247', 'score': 9.02}, {'connected_gene': 'DIO3', 'score': 9.02}, {'connected_gene': 'ENSG00000222185', 'score': 0.39}, {'connected_gene': 'GC14P103195', 'score': 0.39}]
chr14	GH14I101004	101004150	101006019	0.66	[{'connected_gene': 'MIR487A', 'score': 11.04}, {'connected_gene': 'MIR134', 'score': 11.04}, {'connected_gene': 'MIR485', 'score': 11.02}, {'connected_gene': 'MIR154', 'score': 11.02}, {'connected_gene': 'MIR323B', 'score': 11.02}, {'connected_gene': 'MIR377', 'score': 11.01}, {'connected_gene': 'MIR496', 'score': 11.01}, {'connected_gene': 'MIR376C', 'score': 10.91}, {'connected_gene': 'MIR654', 'score': 10.9}, {'connected_gene': 'MIR1185-2', 'score': 10.9}, {'connected_gene': 'MIR300', 'score': 10.9}, {'connected_gene': 'MIR1185-1', 'score': 10.9}, {'connected_gene': 'MIR381', 'score': 10.88}, {'connected_gene': 'MIR544A', 'score': 10.88}, {'connected_gene': 'MIR655', 'score': 10.88}, {'connected_gene': 'MIR539', 'score': 10.88}, {'connected_gene': 'MIR889', 'score': 10.88}, {'connected_gene': 'MIR487B', 'score': 10.88}, {'connected_gene': 'SNORD114-2', 'score': 10.07}, {'connected_gene': 'SNORD114-1', 'score': 10.06}, {'connected_gene': 'SNORD113-9', 'score': 10.06}, {'connected_gene': 'MEG8', 'score': 9.97}, {'connected_gene': 'MIR1247', 'score': 9.02}, {'connected_gene': 'DIO3', 'score': 9.02}, {'connected_gene': 'ENSG00000222185', 'score': 0.44}, {'connected_gene': 'GC14P103195', 'score': 0.37}]
chr14	GH14I100616	100616954	100619000	1.27	[{'connected_gene': 'BEGAIN', 'score': 17.8}, {'connected_gene': 'DIO3', 'score': 12.01}, {'connected_gene': 'DIO3OS', 'score': 11.03}, {'connected_gene': 'DLK1', 'score': 9.89}, {'connected_gene': 'ENSG00000258576', 'score': 0.31}, {'connected_gene': 'PIR56329', 'score': 0.28}]
chr14	GH14I101623	101623507	101623601	0.35	[{'connected_gene': 'MIR1247', 'score': 11.38}, {'connected_gene': 'DIO3', 'score': 11.38}, {'connected_gene': 'WDR20', 'score': 10.54}, {'connected_gene': 'DIO3OS', 'score': 10.3}, {'connected_gene': 'ENSG00000258919', 'score': 0.44}, {'connected_gene': 'LOC105370675', 'score': 0.22}]
chr14	GH14I101405	101405504	101405773	0.71	[{'connected_gene': 'MIR1247', 'score': 10.37}, {'connected_gene': 'DIO3', 'score': 10.37}, {'connected_gene': 'ENSG00000222185', 'score': 10.01}, {'connected_gene': 'ENSG00000222095', 'score': 10.0}, {'connected_gene': 'SNORD114-31', 'score': 10.0}, {'connected_gene': 'MIR493', 'score': 9.77}, {'connected_gene': 'MIR337', 'score': 9.77}, {'connected_gene': 'MIR136', 'score': 9.77}, {'connected_gene': 'RTL1', 'score': 9.77}, {'connected_gene': 'MIR431', 'score': 9.77}, {'connected_gene': 'MIR433', 'score': 9.77}, {'connected_gene': 'MIR127', 'score': 9.77}, {'connected_gene': 'SNORD113-3', 'score': 9.47}, {'connected_gene': 'SNORD113-2', 'score': 9.47}, {'connected_gene': 'SNORD113-1', 'score': 9.39}, {'connected_gene': 'LINC00524', 'score': 0.77}, {'connected_gene': 'GC14M101404', 'score': 0.28}, {'connected_gene': 'GC14P103288', 'score': 0.26}]
chr14	GH14I101559	101559035	101560784	0.56	[{'connected_gene': 'MIR1247', 'score': 550.77}, {'connected_gene': 'DIO3', 'score': 550.77}, {'connected_gene': 'DIO3OS', 'score': 550.77}, {'connected_gene': 'LOC105370674', 'score': 0.39}, {'connected_gene': 'GC14P103292', 'score': 0.31}]
chr14	GH14I101561	101561280	101561473	1.12	[{'connected_gene': 'MIR1247', 'score': 550.77}, {'connected_gene': 'DIO3', 'score': 550.77}, {'connected_gene': 'DIO3OS', 'score': 550.77}, {'connected_gene': 'GC14P103152', 'score': 550.77}, {'connected_gene': 'GC14P103292', 'score': 0.31}]
chr14	GH14I101628	101628001	101629242	1.05	[{'connected_gene': 'MIR1247', 'score': 10.73}, {'connected_gene': 'DIO3', 'score': 10.73}, {'connected_gene': 'ENSG00000258919', 'score': 0.77}, {'connected_gene': 'LOC105370675', 'score': 0.21}, {'connected_gene': 'LINC02320', 'score': 0.15}]
chr14	GH14I101624	101624764	101624793	0.2	[{'connected_gene': 'MIR1247', 'score': 11.38}, {'connected_gene': 'DIO3', 'score': 11.38}, {'connected_gene': 'ENSG00000258919', 'score': 0.44}, {'connected_gene': 'LOC105370675', 'score': 0.22}]
chr14	GH14I101627	101627007	101627350	0.22	[{'connected_gene': 'MIR1247', 'score': 11.37}, {'connected_gene': 'DIO3', 'score': 11.37}, {'connected_gene': 'ENSG00000258919', 'score': 0.44}, {'connected_gene': 'LOC105370675', 'score': 0.22}]
chr14	GH14I101521	101521064	101521213	0.2	[{'connected_gene': 'MIR1247', 'score': 11.88}, {'connected_gene': 'DIO3', 'score': 11.87}, {'connected_gene': 'GC14P103292', 'score': 0.39}, {'connected_gene': 'LOC105370673', 'score': 0.34}, {'connected_gene': 'LOC105370672', 'score': 0.26}]
chr14	GH14I101518	101518644	101518793	0.46	[{'connected_gene': 'MIR1247', 'score': 11.87}, {'connected_gene': 'DIO3', 'score': 11.87}, {'connected_gene': 'GC14P103292', 'score': 0.39}, {'connected_gene': 'LOC105370672', 'score': 0.26}]
chr14	GH14I101519	101518844	101518993	0.43	[{'connected_gene': 'MIR1247', 'score': 11.87}, {'connected_gene': 'DIO3', 'score': 11.87}, {'connected_gene': 'GC14P103292', 'score': 0.39}, {'connected_gene': 'LOC105370672', 'score': 0.26}]