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
ENST00000366999	[[211836113, 211836994], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848960]]	[[211836767, 211836994], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848821]]
ENST00000540251	[[211836480, 211836994], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848772], [211848868, 211848933]]	[[211836767, 211836994], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847822]]
ENST00000462283	[[211836744, 211836970], [211840447, 211840573], [211842454, 211842674], [211843622, 211843735], [211844510, 211844626]]	None
ENST00000489633	[[211836866, 211836994], [211840447, 211840573], [211842454, 211842861]]	None
ENST00000366998	[[211839771, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848899]]	[[211840403, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848821]]
NM_001204182	[[211831597, 211832054], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848972]]	[[211831998, 211832054], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848821]]
NM_002497	[[211836113, 211836994], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848972]]	[[211836767, 211836994], [211840447, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848821]]
NM_001204183	[[211839771, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848972]]	[[211840403, 211840573], [211842454, 211842674], [211843622, 211843749], [211844543, 211844626], [211846824, 211847065], [211847637, 211847855], [211848725, 211848821]]

Promoter

Chrom	Start	End	Description
chr1	211848955	211848981	CAGE_peak_1_at_NEK2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I211815	211815000	211816008	0.76	[{'connected_gene': 'LPGAT1', 'score': 18.21}, {'connected_gene': 'NEK2', 'score': 10.64}, {'connected_gene': 'LOC91548', 'score': 10.64}, {'connected_gene': 'ENSG00000212187', 'score': 10.37}, {'connected_gene': 'INTS7', 'score': 4.68}, {'connected_gene': 'PPP2R5A', 'score': 4.46}, {'connected_gene': 'ENSG00000212205', 'score': 0.39}, {'connected_gene': 'LOC102723727', 'score': 0.39}]
chr1	GH01I211901	211901913	211905234	0.93	[{'connected_gene': 'LPGAT1', 'score': 21.92}, {'connected_gene': 'LOC102723727', 'score': 11.12}, {'connected_gene': 'NEK2', 'score': 10.5}, {'connected_gene': 'LOC91548', 'score': 10.5}, {'connected_gene': 'PIR53279', 'score': 0.29}, {'connected_gene': 'ENSG00000233626', 'score': 0.29}]
chr1	GH01I211907	211907469	211913407	1.1	[{'connected_gene': 'LPGAT1', 'score': 22.28}, {'connected_gene': 'LOC102723727', 'score': 19.58}, {'connected_gene': 'NEK2', 'score': 10.5}, {'connected_gene': 'LOC91548', 'score': 10.5}, {'connected_gene': 'ENSG00000212187', 'score': 10.37}, {'connected_gene': 'ENSG00000233626', 'score': 0.31}, {'connected_gene': 'PIR53279', 'score': 0.28}]
chr1	GH01I211674	211674469	211676736	2.11	[{'connected_gene': 'LOC91548', 'score': 556.95}, {'connected_gene': 'NEK2', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 20.37}, {'connected_gene': 'SNX25P1', 'score': 10.53}, {'connected_gene': 'RPL21P28', 'score': 10.52}, {'connected_gene': 'DTL', 'score': 10.35}, {'connected_gene': 'INTS7', 'score': 10.35}, {'connected_gene': 'SLC30A1', 'score': 10.11}, {'connected_gene': 'FDPSP8', 'score': 0.39}]
chr1	GH01I211667	211667299	211667408	0.86	[{'connected_gene': 'SLC30A1', 'score': 11.05}, {'connected_gene': 'ENSG00000212187', 'score': 10.27}, {'connected_gene': 'NEK2', 'score': 0.44}, {'connected_gene': 'FDPSP8', 'score': 0.44}]
chr1	GH01I211646	211646276	211650990	1.54	[{'connected_gene': 'SNORA16B', 'score': 15.94}, {'connected_gene': 'SLC30A1', 'score': 12.47}, {'connected_gene': 'RD3', 'score': 11.22}, {'connected_gene': 'ENSG00000223649', 'score': 11.22}, {'connected_gene': 'NEK2', 'score': 10.53}, {'connected_gene': 'LOC91548', 'score': 10.53}, {'connected_gene': 'LINC01693', 'score': 0.44}, {'connected_gene': 'ENSG00000228792', 'score': 0.44}, {'connected_gene': 'FDPSP8', 'score': 0.39}]
chr1	GH01I212029	212029937	212032471	1.37	[{'connected_gene': 'DTL', 'score': 10.63}, {'connected_gene': 'NEK2', 'score': 10.36}, {'connected_gene': 'LOC91548', 'score': 10.36}, {'connected_gene': 'RCOR3', 'score': 10.27}, {'connected_gene': 'INTS7', 'score': 9.19}, {'connected_gene': 'ENSG00000212187', 'score': 0.44}]
chr1	GH01I211922	211922239	211925582	0.76	[{'connected_gene': 'NEK2', 'score': 10.82}, {'connected_gene': 'LOC91548', 'score': 10.82}, {'connected_gene': 'ENSG00000212187', 'score': 10.56}, {'connected_gene': 'LPGAT1', 'score': 8.49}, {'connected_gene': 'ENSG00000233626', 'score': 0.39}, {'connected_gene': 'PIR53279', 'score': 0.23}]
chr1	GH01I212033	212033933	212038524	2.32	[{'connected_gene': 'INTS7', 'score': 559.2}, {'connected_gene': 'DTL', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 57.06}, {'connected_gene': 'RPL21P28', 'score': 10.84}, {'connected_gene': 'ANGEL2', 'score': 10.47}, {'connected_gene': 'NEK2', 'score': 10.36}, {'connected_gene': 'LOC91548', 'score': 10.36}, {'connected_gene': 'LPGAT1', 'score': 4.52}]
chr1	GH01I211638	211638359	211640927	1.11	[{'connected_gene': 'LINC01693', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 12.23}, {'connected_gene': 'RD3', 'score': 11.45}, {'connected_gene': 'ENSG00000223649', 'score': 11.45}, {'connected_gene': 'NEK2', 'score': 10.49}, {'connected_gene': 'LOC91548', 'score': 10.49}, {'connected_gene': 'ENSG00000260805', 'score': 4.38}, {'connected_gene': 'ENSG00000228792', 'score': 0.77}, {'connected_gene': 'LOC105372903', 'score': 0.29}]
chr1	GH01I211927	211927600	211931314	1.43	[{'connected_gene': 'LOC102723727', 'score': 19.68}, {'connected_gene': 'RCOR3', 'score': 12.15}, {'connected_gene': 'LPGAT1', 'score': 11.49}, {'connected_gene': 'NEK2', 'score': 10.96}, {'connected_gene': 'LOC91548', 'score': 10.96}, {'connected_gene': 'SNX25P1', 'score': 10.76}, {'connected_gene': 'ENSG00000212187', 'score': 10.57}, {'connected_gene': 'RPL21P28', 'score': 10.18}, {'connected_gene': 'INTS7', 'score': 9.98}, {'connected_gene': 'ENSG00000233626', 'score': 0.44}, {'connected_gene': 'PIR53279', 'score': 0.22}]
chr1	GH01I210861	210861978	210862400	0.83	[{'connected_gene': 'IPO8P1', 'score': 550.77}, {'connected_gene': 'NEK2', 'score': 6.64}, {'connected_gene': 'LOC105372901', 'score': 0.1}, {'connected_gene': 'ENSG00000284299', 'score': 0.06}, {'connected_gene': 'KCNH1', 'score': 0.06}]
chr1	GH01I211641	211641335	211645606	1.34	[{'connected_gene': 'ENSG00000228792', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 16.98}, {'connected_gene': 'RD3', 'score': 11.22}, {'connected_gene': 'ENSG00000223649', 'score': 11.22}, {'connected_gene': 'NEK2', 'score': 10.51}, {'connected_gene': 'LOC91548', 'score': 10.51}, {'connected_gene': 'LINC01693', 'score': 0.77}, {'connected_gene': 'FDPSP8', 'score': 0.37}]
chr1	GH01I211738	211738164	211740836	1.26	[{'connected_gene': 'ENSG00000212187', 'score': 10.92}, {'connected_gene': 'NEK2', 'score': 10.53}, {'connected_gene': 'LOC91548', 'score': 10.53}, {'connected_gene': 'LPGAT1', 'score': 9.91}, {'connected_gene': 'PIR57135', 'score': 0.39}, {'connected_gene': 'PIR47428', 'score': 0.39}]