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
ENST00000368090	[[159997461, 160001783]]	[[160000257, 160001529]]
NM_145167	[[159997461, 160001783]]	[[160000257, 160001529]]

Promoter

Chrom	Start	End	Description
chr1	160001568	160001575	CAGE_peak_5_at_PIGM_5end
chr1	160001625	160001688	CAGE_peak_2_at_PIGM_5end
chr1	160001737	160001790	CAGE_peak_1_at_PIGM_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I160075	160075471	160075540	0.2	[{'connected_gene': 'IGSF8', 'score': 11.38}, {'connected_gene': 'PIGM', 'score': 10.21}, {'connected_gene': 'KCNJ9', 'score': 0.77}, {'connected_gene': 'KCNJ10', 'score': 0.44}, {'connected_gene': 'ENSG00000225279', 'score': 0.39}]
chr1	GH01I160095	160095441	160103654	2.65	[{'connected_gene': 'IGSF8', 'score': 561.74}, {'connected_gene': 'ATP1A4', 'score': 15.64}, {'connected_gene': 'CASQ1', 'score': 11.06}, {'connected_gene': 'KCNJ10', 'score': 11.02}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'PEX19', 'score': 10.42}, {'connected_gene': 'PIGM', 'score': 9.93}, {'connected_gene': 'ENSG00000225279', 'score': 9.74}, {'connected_gene': 'ATP1A2', 'score': 2.2}, {'connected_gene': 'KCNJ9', 'score': 1.98}]
chr1	GH01I160083	160083607	160085126	1.11	[{'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'ATP1A2', 'score': 10.31}, {'connected_gene': 'ATP1A4', 'score': 8.33}, {'connected_gene': 'KCNJ9', 'score': 0.77}, {'connected_gene': 'IGSF8', 'score': 0.39}]
chr1	GH01I160030	160030424	160032926	2.03	[{'connected_gene': 'PIGM', 'score': 555.76}, {'connected_gene': 'ENSG00000260766', 'score': 8.15}, {'connected_gene': 'KCNJ10', 'score': 0.28}]
chr1	GH01I160203	160203962	160211585	2.19	[{'connected_gene': 'PEA15', 'score': 550.77}, {'connected_gene': 'LOC729867', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 22.64}, {'connected_gene': 'LOC100287049', 'score': 10.96}, {'connected_gene': 'DCAF8', 'score': 10.96}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 9.1}, {'connected_gene': 'COPA', 'score': 8.45}]
chr1	GH01I160156	160156050	160157141	0.4	[{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 6.63}, {'connected_gene': 'GC01P160171', 'score': 0.37}]
chr1	GH01I160157	160157769	160158819	0.69	[{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 5.67}, {'connected_gene': 'GC01P160171', 'score': 0.39}]
chr1	GH01I160139	160139335	160142648	0.31	[{'connected_gene': 'ATP1A4', 'score': 19.17}, {'connected_gene': 'CASQ1', 'score': 17.25}, {'connected_gene': 'ATP1A2', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 10.87}, {'connected_gene': 'IGSF8', 'score': 10.64}, {'connected_gene': 'LOC100287049', 'score': 10.39}, {'connected_gene': 'KCNJ10', 'score': 9.87}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'PEA15', 'score': 6.12}, {'connected_gene': 'GC01M160128', 'score': 0.39}]
chr1	GH01I160136	160136592	160138441	0.2	[{'connected_gene': 'ATP1A4', 'score': 32.77}, {'connected_gene': 'CASQ1', 'score': 17.53}, {'connected_gene': 'ATP1A2', 'score': 12.72}, {'connected_gene': 'KCNJ9', 'score': 11.06}, {'connected_gene': 'IGSF8', 'score': 10.65}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'SLAMF1', 'score': 9.02}, {'connected_gene': 'ENSG00000212161', 'score': 8.72}, {'connected_gene': 'GC01M160128', 'score': 0.44}]
chr1	GH01I160085	160085731	160087163	1.23	[{'connected_gene': 'ATP1A2', 'score': 15.59}, {'connected_gene': 'KCNJ9', 'score': 15.36}, {'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'IGSF8', 'score': 8.21}, {'connected_gene': 'ATP1A4', 'score': 8.2}, {'connected_gene': 'KCNJ10', 'score': 4.63}, {'connected_gene': 'PEA15', 'score': 2.29}]
chr1	GH01I160316	160316915	160317824	0.31	[{'connected_gene': 'SUMO1P3', 'score': 550.77}, {'connected_gene': 'COPA', 'score': 19.44}, {'connected_gene': 'NCSTN', 'score': 15.54}, {'connected_gene': 'PIGM', 'score': 8.79}, {'connected_gene': 'ENSG00000202078', 'score': 0.44}, {'connected_gene': 'GC01M160326', 'score': 0.44}, {'connected_gene': 'NHLH1', 'score': 0.29}]
chr1	GH01I159907	159907071	159907220	0.2	[{'connected_gene': 'VSIG8', 'score': 18.15}, {'connected_gene': 'SNHG28', 'score': 11.03}, {'connected_gene': 'IGSF9', 'score': 11.03}, {'connected_gene': 'ENSG00000212161', 'score': 11.02}, {'connected_gene': 'FCRL6', 'score': 10.5}, {'connected_gene': 'DUSP23', 'score': 10.41}, {'connected_gene': 'PIGM', 'score': 9.49}, {'connected_gene': 'ENSG00000279430', 'score': 0.77}, {'connected_gene': 'GC01P159904', 'score': 0.77}, {'connected_gene': 'PIR60584', 'score': 0.77}, {'connected_gene': 'GC01M159886', 'score': 0.39}]
chr1	GH01I159881	159881288	159882982	1.61	[{'connected_gene': 'RPSAP18', 'score': 36.6}, {'connected_gene': 'ENSG00000272668', 'score': 32.19}, {'connected_gene': 'SNHG28', 'score': 31.7}, {'connected_gene': 'LOC100287049', 'score': 22.64}, {'connected_gene': 'SLAMF8', 'score': 12.57}, {'connected_gene': 'PIGM', 'score': 12.13}, {'connected_gene': 'DCAF8', 'score': 11.34}, {'connected_gene': 'CADM3', 'score': 11.13}, {'connected_gene': 'CADM3-AS1', 'score': 10.32}, {'connected_gene': 'COPA', 'score': 9.98}, {'connected_gene': 'VSIG8', 'score': 6.77}, {'connected_gene': 'SLAMF9', 'score': 5.45}, {'connected_gene': 'TAGLN2', 'score': 2.04}, {'connected_gene': 'ENSG00000256029', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.37}, {'connected_gene': 'MIR4259', 'score': 0.37}]
chr1	GH01I160046	160046210	160047400	1.4	[{'connected_gene': 'KCNJ9', 'score': 11.29}, {'connected_gene': 'IGSF8', 'score': 10.42}, {'connected_gene': 'ENSG00000260766', 'score': 7.6}, {'connected_gene': 'PIGM', 'score': 0.39}, {'connected_gene': 'ENSG00000225279', 'score': 0.37}, {'connected_gene': 'KCNJ10', 'score': 0.34}]
chr1	GH01I160104	160104001	160105312	0.78	[{'connected_gene': 'KCNJ9', 'score': 11.31}, {'connected_gene': 'CASQ1', 'score': 11.07}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.44}, {'connected_gene': 'PEX19', 'score': 10.43}, {'connected_gene': 'PIGM', 'score': 9.92}, {'connected_gene': 'ATP1A4', 'score': 9.82}, {'connected_gene': 'ENSG00000225279', 'score': 9.72}, {'connected_gene': 'KCNJ10', 'score': 9.61}, {'connected_gene': 'IGSF8', 'score': 7.84}, {'connected_gene': 'ATP1A2', 'score': 0.39}]
chr1	GH01I159888	159888967	159891999	1.66	[{'connected_gene': 'ENSG00000272668', 'score': 34.46}, {'connected_gene': 'SLAMF8', 'score': 17.04}, {'connected_gene': 'SNHG28', 'score': 16.35}, {'connected_gene': 'FCRL6', 'score': 12.13}, {'connected_gene': 'VSIG8', 'score': 11.62}, {'connected_gene': 'ENSG00000212161', 'score': 11.59}, {'connected_gene': 'IGSF9', 'score': 10.93}, {'connected_gene': 'DUSP23', 'score': 10.84}, {'connected_gene': 'PIGM', 'score': 9.57}, {'connected_gene': 'SLAMF9', 'score': 5.85}, {'connected_gene': 'TAGLN2', 'score': 2.78}, {'connected_gene': 'COPA', 'score': 1.22}, {'connected_gene': 'MIR4259', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.44}, {'connected_gene': 'ENSG00000256029', 'score': 0.37}, {'connected_gene': 'GC01M159886', 'score': 0.31}]
chr1	GH01I160123	160123023	160129819	1.3	[{'connected_gene': 'GC01P160126', 'score': 550.77}, {'connected_gene': 'GC01P160125', 'score': 550.77}, {'connected_gene': 'ATP1A4', 'score': 61.58}, {'connected_gene': 'IGSF8', 'score': 15.94}, {'connected_gene': 'PEA15', 'score': 15.62}, {'connected_gene': 'CASQ1', 'score': 11.14}, {'connected_gene': 'KCNJ9', 'score': 10.25}, {'connected_gene': 'PIGM', 'score': 9.42}, {'connected_gene': 'ATP1A2', 'score': 7.23}, {'connected_gene': 'GC01M160128', 'score': 0.77}]