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
NM_001278279	[[36452988, 36453215], [36454414, 36454592], [36455316, 36455434], [36462499, 36462598], [36474585, 36474634], [36478008, 36478182], [36478391, 36479101]]	[[36453149, 36453215], [36454414, 36454592], [36455316, 36455434], [36462499, 36462598], [36474585, 36474634], [36478008, 36478182], [36478391, 36478478]]
NM_032351	[[36452988, 36453215], [36454414, 36454592], [36455316, 36455434], [36462499, 36462598], [36474585, 36474634], [36476501, 36476651], [36478008, 36478182], [36478391, 36479101]]	[[36453149, 36453215], [36454414, 36454592], [36455316, 36455434], [36462499, 36462598], [36474585, 36474634], [36476501, 36476651], [36478008, 36478182], [36478391, 36478478]]

Promoter

Chrom	Start	End	Description
chr17	36453126	36453152	CAGE_peak_1_at_MRPL45_5end
chr17	36453171	36453186	CAGE_peak_2_at_MRPL45_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I038284	38284060	38287346	1.05	[{'connected_gene': 'MRPL45', 'score': 7.62}, {'connected_gene': 'LOC105371760', 'score': 0.44}, {'connected_gene': 'GC17M038268', 'score': 0.39}]
chr17	GH17I037764	37764855	37765400	0.98	[{'connected_gene': 'MRPL45', 'score': 5.01}, {'connected_gene': 'GC17P037757', 'score': 0.44}, {'connected_gene': 'GC17P037754', 'score': 0.39}, {'connected_gene': 'ENSG00000275173', 'score': 0.28}]
chr17	GH17I038712	38712650	38713709	0.49	[{'connected_gene': 'PCGF2', 'score': 12.17}, {'connected_gene': 'PSMB3', 'score': 11.72}, {'connected_gene': 'MRPL45', 'score': 5.5}, {'connected_gene': 'MIR4726', 'score': 0.44}, {'connected_gene': 'MLLT6', 'score': 0.44}, {'connected_gene': 'ENSG00000275532', 'score': 0.44}]
chr17	GH17I037697	37697950	37699109	1.35	[{'connected_gene': 'HNF1B', 'score': 11.59}, {'connected_gene': 'MRPL45', 'score': 4.58}, {'connected_gene': 'LOC105371754', 'score': 0.39}, {'connected_gene': 'GC17P037657', 'score': 0.26}]
chr17	GH17I037449	37449699	37451227	0.54	[{'connected_gene': 'TADA2A', 'score': 14.28}, {'connected_gene': 'ACACA', 'score': 11.57}, {'connected_gene': 'C17orf78', 'score': 11.28}, {'connected_gene': 'DDX52', 'score': 8.17}, {'connected_gene': 'MRPL45', 'score': 4.64}, {'connected_gene': 'LOC100419621', 'score': 0.77}, {'connected_gene': 'GC17P037432', 'score': 0.37}]
chr17	GH17I038320	38320090	38321717	0.65	[{'connected_gene': 'GPR179', 'score': 12.35}, {'connected_gene': 'SOCS7', 'score': 12.0}, {'connected_gene': 'MRPL45', 'score': 7.89}, {'connected_gene': 'PIR49079', 'score': 0.34}, {'connected_gene': 'GC17P038300', 'score': 0.34}]
chr17	GH17I038322	38322238	38322447	0.46	[{'connected_gene': 'GPR179', 'score': 12.35}, {'connected_gene': 'SOCS7', 'score': 12.02}, {'connected_gene': 'MRPL45', 'score': 6.72}, {'connected_gene': 'PIR49079', 'score': 0.34}, {'connected_gene': 'GC17P038300', 'score': 0.34}]
chr17	GH17I038324	38322058	38322207	0.31	[{'connected_gene': 'GPR179', 'score': 12.35}, {'connected_gene': 'SOCS7', 'score': 12.02}, {'connected_gene': 'PIR49079', 'score': 0.34}, {'connected_gene': 'GC17P038300', 'score': 0.34}, {'connected_gene': 'MRPL45', 'score': 0.31}]
chr17	GH17I038255	38255400	38258001	1.93	[{'connected_gene': 'LOC440434', 'score': 550.77}, {'connected_gene': 'TBC1D3', 'score': 9.02}, {'connected_gene': 'MRPL45', 'score': 4.98}, {'connected_gene': 'GC17M038232', 'score': 0.31}, {'connected_gene': 'ENSG00000274284', 'score': 0.31}]
chr17	GH17I038739	38739140	38740377	0.31	[{'connected_gene': 'MLLT6', 'score': 11.53}, {'connected_gene': 'PIP4K2B', 'score': 10.54}, {'connected_gene': 'MRPL45', 'score': 4.85}, {'connected_gene': 'GC17M038732', 'score': 0.44}, {'connected_gene': 'LOC100287808', 'score': 0.44}, {'connected_gene': 'RNA5SP440', 'score': 0.44}, {'connected_gene': 'PCGF2', 'score': 0.39}]
chr17	GH17I039165	39165950	39168235	1.02	[{'connected_gene': 'ARL5C', 'score': 560.11}, {'connected_gene': 'MED1', 'score': 15.47}, {'connected_gene': 'MED24', 'score': 10.57}, {'connected_gene': 'SNORA21', 'score': 10.36}, {'connected_gene': 'CDK12', 'score': 10.23}, {'connected_gene': 'RPL23', 'score': 10.18}, {'connected_gene': 'MRPL45', 'score': 5.8}, {'connected_gene': 'LOC105371763', 'score': 4.52}, {'connected_gene': 'ENSG00000280177', 'score': 0.77}]
chr17	GH17I037447	37447346	37448434	0.72	[{'connected_gene': 'ACACA', 'score': 11.57}, {'connected_gene': 'C17orf78', 'score': 11.33}, {'connected_gene': 'MRPL45', 'score': 4.81}, {'connected_gene': 'LOC100419621', 'score': 0.44}, {'connected_gene': 'GC17P037432', 'score': 0.37}, {'connected_gene': 'TADA2A', 'score': 0.26}]
chr17	GH17I038323	38323819	38325860	0.79	[{'connected_gene': 'SOCS7', 'score': 12.64}, {'connected_gene': 'MRPL45', 'score': 9.41}, {'connected_gene': 'TBC1D3', 'score': 7.27}, {'connected_gene': 'GPR179', 'score': 0.37}, {'connected_gene': 'PIR49079', 'score': 0.31}, {'connected_gene': 'GC17P038300', 'score': 0.31}]
chr17	GH17I037486	37486683	37494837	2.49	[{'connected_gene': 'DUSP14', 'score': 566.34}, {'connected_gene': 'GC17M037483', 'score': 550.77}, {'connected_gene': 'TADA2A', 'score': 49.66}, {'connected_gene': 'ACACA', 'score': 11.31}, {'connected_gene': 'DDX52', 'score': 8.62}, {'connected_gene': 'SYNRG', 'score': 4.88}, {'connected_gene': 'MRPL45', 'score': 4.58}, {'connected_gene': 'PIR41271', 'score': 0.34}]
chr17	GH17I038296	38296381	38297974	1.5	[{'connected_gene': 'LOC105371760', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 550.77}, {'connected_gene': 'TBC1D3', 'score': 8.91}, {'connected_gene': 'PIR49079', 'score': 0.77}, {'connected_gene': 'GC17P038300', 'score': 0.77}]
chr17	GH17I038297	38296096	38296305	0.59	[{'connected_gene': 'LOC105371760', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 550.77}]
chr17	GH17I037707	37707280	37714565	1.64	[{'connected_gene': 'LOC105371754', 'score': 550.77}, {'connected_gene': 'HNF1B', 'score': 15.56}, {'connected_gene': 'MRPL45', 'score': 5.4}, {'connected_gene': 'HMGB1P24', 'score': 4.21}, {'connected_gene': 'ACACA', 'score': 2.16}]
chr17	GH17I038403	38403117	38403217	0.38	[{'connected_gene': 'PIR40377', 'score': 550.77}, {'connected_gene': 'GC17P038492', 'score': 550.77}, {'connected_gene': 'PIR54681', 'score': 550.77}, {'connected_gene': 'PIR51630', 'score': 550.77}, {'connected_gene': 'PIR53205', 'score': 550.77}, {'connected_gene': 'GC17P038490', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 4.77}, {'connected_gene': 'SOCS7', 'score': 0.23}]
chr17	GH17I038404	38403828	38404630	0.72	[{'connected_gene': 'PIR54681', 'score': 550.77}, {'connected_gene': 'GC17P038492', 'score': 550.77}, {'connected_gene': 'PIR53205', 'score': 550.77}, {'connected_gene': 'PIR40377', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 4.77}, {'connected_gene': 'GC17P038493', 'score': 0.44}, {'connected_gene': 'SOCS7', 'score': 0.23}]
chr17	GH17I037758	37758429	37760674	0.89	[{'connected_gene': 'GC17P037757', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 5.69}, {'connected_gene': 'GC17P037754', 'score': 0.77}, {'connected_gene': 'ENSG00000275173', 'score': 0.26}]
chr17	GH17I038416	38416817	38419189	0.87	[{'connected_gene': 'GC17M038418', 'score': 550.77}, {'connected_gene': 'GC17M038417', 'score': 550.77}, {'connected_gene': 'GC17M038410', 'score': 550.77}, {'connected_gene': 'PIR32801', 'score': 550.77}, {'connected_gene': 'ARHGAP23', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 4.94}]