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
ENST00000368715	[[153516088, 153516399], [153517129, 153517285], [153517433, 153517539]]	[[153516234, 153516399], [153517129, 153517270]]
ENST00000481009	[[153516088, 153516399], [153517129, 153517573]]	None
ENST00000354332	[[153516088, 153516399], [153517129, 153517285], [153517945, 153517994], [153518228, 153518278]]	[[153516234, 153516399], [153517129, 153517270]]
ENST00000468373	[[153516088, 153516415], [153517129, 153517285], [153518228, 153518282]]	None
ENST00000368716	[[153516088, 153516399], [153517129, 153517285], [153518228, 153518361]]	[[153516234, 153516399], [153517129, 153517270]]
ENST00000368714	[[153516096, 153516399], [153517129, 153517285], [153522540, 153522612]]	[[153516234, 153516399], [153517129, 153517270]]
NM_019554	[[153516094, 153516399], [153517129, 153517285], [153517945, 153517994], [153518228, 153518282]]	[[153516234, 153516399], [153517129, 153517270]]
NM_002961	[[153516097, 153516399], [153517129, 153517285], [153518228, 153518282]]	[[153516234, 153516399], [153517129, 153517270]]

Promoter

Chrom	Start	End	Description
chr1	153517273	153517295	CAGE_peak_5_at_S100A4_5end
chr1	153517450	153517465	CAGE_peak_4_at_S100A4_5end
chr1	153517473	153517536	CAGE_peak_2_at_S100A4_5end
chr1	153517554	153517574	CAGE_peak_3_at_S100A4_5end
chr1	153518270	153518290	CAGE_peak_1_at_S100A4_5end
chr1	153518453	153518470	CAGE_peak_10_at_S100A4_5end
chr1	153518488	153518505	CAGE_peak_6_at_S100A4_5end
chr1	153522562	153522578	CAGE_peak_11_at_S100A4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I153553	153552846	153552936	0.24	[{'connected_gene': 'S100A14', 'score': 10.83}, {'connected_gene': 'S100A16', 'score': 10.83}, {'connected_gene': 'S100A1', 'score': 10.63}, {'connected_gene': 'CHTOP', 'score': 10.62}, {'connected_gene': 'S100A13', 'score': 10.62}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}, {'connected_gene': 'S100A7L2', 'score': 5.72}, {'connected_gene': 'S100A9', 'score': 2.1}, {'connected_gene': 'PGLYRP3', 'score': 2.03}, {'connected_gene': 'S100A4', 'score': 1.96}, {'connected_gene': 'S100A12', 'score': 1.46}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1	GH01I153572	153571645	153573832	1.41	[{'connected_gene': 'INTS3', 'score': 14.03}, {'connected_gene': 'ATP8B2', 'score': 12.97}, {'connected_gene': 'UBAP2L', 'score': 11.86}, {'connected_gene': 'S100A3', 'score': 10.46}, {'connected_gene': 'S100A9', 'score': 3.82}, {'connected_gene': 'S100A7L2', 'score': 2.65}, {'connected_gene': 'S100A12', 'score': 2.6}, {'connected_gene': 'S100A4', 'score': 1.89}, {'connected_gene': 'S100A2', 'score': 0.77}, {'connected_gene': 'PIR44602', 'score': 0.39}]
chr1	GH01I153384	153384801	153392600	1.67	[{'connected_gene': 'S100A8', 'score': 572.65}, {'connected_gene': 'S100A12', 'score': 25.34}, {'connected_gene': 'S100A9', 'score': 23.34}, {'connected_gene': 'PGLYRP4', 'score': 10.81}, {'connected_gene': 'RNU6-160P', 'score': 10.38}, {'connected_gene': 'S100A7L2', 'score': 1.64}, {'connected_gene': 'S100A4', 'score': 1.56}, {'connected_gene': 'LAPTM4BP1', 'score': 0.44}, {'connected_gene': 'ENSG00000224784', 'score': 0.44}]
chr1	GH01I153539	153539541	153551521	2.2	[{'connected_gene': 'S100A3', 'score': 574.01}, {'connected_gene': 'S100A4', 'score': 550.77}, {'connected_gene': 'LOC101928034', 'score': 550.77}, {'connected_gene': 'S100A5', 'score': 550.77}, {'connected_gene': 'S100A16', 'score': 10.82}, {'connected_gene': 'S100A14', 'score': 10.81}, {'connected_gene': 'S100A1', 'score': 10.62}, {'connected_gene': 'CHTOP', 'score': 10.61}, {'connected_gene': 'S100A13', 'score': 10.61}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}]
chr1	GH01I153552	153552973	153554763	1.07	[{'connected_gene': 'S100A3', 'score': 13.91}, {'connected_gene': 'CHTOP', 'score': 12.52}, {'connected_gene': 'S100A13', 'score': 12.35}, {'connected_gene': 'S100A16', 'score': 10.84}, {'connected_gene': 'S100A14', 'score': 10.83}, {'connected_gene': 'S100A1', 'score': 10.64}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}, {'connected_gene': 'S100A9', 'score': 8.74}, {'connected_gene': 'S100A12', 'score': 6.49}, {'connected_gene': 'S100A4', 'score': 3.78}, {'connected_gene': 'S100A8', 'score': 2.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1	GH01I153561	153561172	153569950	2.27	[{'connected_gene': 'S100A2', 'score': 552.94}, {'connected_gene': 'S100A6', 'score': 15.88}, {'connected_gene': 'S100A3', 'score': 15.05}, {'connected_gene': 'S100A5', 'score': 12.92}, {'connected_gene': 'ENSG00000238279', 'score': 12.87}, {'connected_gene': 'S100A16', 'score': 12.57}, {'connected_gene': 'S100A13', 'score': 12.27}, {'connected_gene': 'S100A14', 'score': 12.24}, {'connected_gene': 'SNAPIN', 'score': 10.36}, {'connected_gene': 'S100A1', 'score': 10.23}, {'connected_gene': 'CHTOP', 'score': 10.23}, {'connected_gene': 'NPR1', 'score': 9.68}, {'connected_gene': 'S100A9', 'score': 9.64}, {'connected_gene': 'PGLYRP4', 'score': 9.37}, {'connected_gene': 'INTS3', 'score': 9.33}, {'connected_gene': 'ENSG00000233222', 'score': 9.32}, {'connected_gene': 'ENSG00000243613', 'score': 9.32}, {'connected_gene': 'RNU6-160P', 'score': 9.16}, {'connected_gene': 'S100A4', 'score': 6.77}, {'connected_gene': 'S100A7L2', 'score': 2.46}, {'connected_gene': 'PGLYRP3', 'score': 1.35}]
chr1	GH01I153984	153984482	153987861	2	[{'connected_gene': 'RAB13', 'score': 550.77}, {'connected_gene': 'S100A4', 'score': 12.02}, {'connected_gene': 'ILF2', 'score': 10.78}, {'connected_gene': 'CHTOP', 'score': 10.77}, {'connected_gene': 'S100A16', 'score': 10.75}, {'connected_gene': 'CREB3L4', 'score': 10.25}, {'connected_gene': 'CKS1B', 'score': 10.08}, {'connected_gene': 'S100A3', 'score': 9.78}, {'connected_gene': 'HAX1', 'score': 4.36}, {'connected_gene': 'GC01P153977', 'score': 0.44}]
chr1	GH01I154199	154199002	154199600	0.98	[{'connected_gene': 'CHTOP', 'score': 17.85}, {'connected_gene': 'CRTC2', 'score': 16.98}, {'connected_gene': 'CREB3L4', 'score': 14.08}, {'connected_gene': 'SHC1', 'score': 12.9}, {'connected_gene': 'UBAP2L', 'score': 12.65}, {'connected_gene': 'INTS3', 'score': 12.28}, {'connected_gene': 'RPS27', 'score': 11.75}, {'connected_gene': 'SLC27A3', 'score': 11.52}, {'connected_gene': 'KRTCAP2', 'score': 10.51}, {'connected_gene': 'ENSG00000238279', 'score': 10.13}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'S100A4', 'score': 5.09}, {'connected_gene': 'TPM3', 'score': 0.77}, {'connected_gene': 'C1orf189', 'score': 0.44}]
chr1	GH01I153492	153492583	153494659	0.43	[{'connected_gene': 'RN7SL44P', 'score': 12.87}, {'connected_gene': 'ENSG00000238279', 'score': 11.66}, {'connected_gene': 'S100A6', 'score': 11.64}, {'connected_gene': 'S100A5', 'score': 11.63}, {'connected_gene': 'S100A3', 'score': 11.6}, {'connected_gene': 'S100A4', 'score': 11.6}, {'connected_gene': 'PGLYRP4', 'score': 11.21}, {'connected_gene': 'S100A9', 'score': 10.8}, {'connected_gene': 'RNU6-160P', 'score': 10.35}, {'connected_gene': 'S100A1', 'score': 10.13}, {'connected_gene': 'S100A13', 'score': 10.13}, {'connected_gene': 'CHTOP', 'score': 10.13}, {'connected_gene': 'PGLYRP3', 'score': 9.78}, {'connected_gene': 'S100A16', 'score': 9.71}, {'connected_gene': 'S100A14', 'score': 9.71}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]
chr1	GH01I154270	154270778	154274041	2.08	[{'connected_gene': 'HAX1', 'score': 563.47}, {'connected_gene': 'CHTOP', 'score': 17.86}, {'connected_gene': 'CRTC2', 'score': 16.97}, {'connected_gene': 'CREB3L4', 'score': 14.06}, {'connected_gene': 'SHC1', 'score': 12.9}, {'connected_gene': 'UBAP2L', 'score': 12.54}, {'connected_gene': 'THBS3', 'score': 12.34}, {'connected_gene': 'INTS3', 'score': 12.27}, {'connected_gene': 'S100A4', 'score': 12.0}, {'connected_gene': 'RPS27', 'score': 11.73}, {'connected_gene': 'SLC27A3', 'score': 11.51}, {'connected_gene': 'KRTCAP2', 'score': 10.51}, {'connected_gene': 'ENSG00000238279', 'score': 10.13}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'C1orf43', 'score': 5.74}, {'connected_gene': 'GC01P154263', 'score': 0.44}]
chr1	GH01I153494	153494985	153495154	0.84	[{'connected_gene': 'ENSG00000238279', 'score': 11.66}, {'connected_gene': 'S100A6', 'score': 11.64}, {'connected_gene': 'S100A5', 'score': 11.63}, {'connected_gene': 'S100A3', 'score': 11.61}, {'connected_gene': 'S100A4', 'score': 11.6}, {'connected_gene': 'PGLYRP4', 'score': 11.19}, {'connected_gene': 'S100A9', 'score': 10.37}, {'connected_gene': 'RNU6-160P', 'score': 10.35}, {'connected_gene': 'S100A16', 'score': 9.71}, {'connected_gene': 'S100A14', 'score': 9.71}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'RN7SL44P', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]
chr1	GH01I154312	154312159	154313695	0.89	[{'connected_gene': 'ENSG00000278694', 'score': 550.77}, {'connected_gene': 'UBE2Q1', 'score': 15.3}, {'connected_gene': 'S100A4', 'score': 12.0}, {'connected_gene': 'RNU7-57P', 'score': 11.38}, {'connected_gene': 'SNORA58B', 'score': 10.85}, {'connected_gene': 'UBAP2L', 'score': 10.77}, {'connected_gene': 'ILF2', 'score': 10.76}, {'connected_gene': 'CHTOP', 'score': 10.74}, {'connected_gene': 'DCST1', 'score': 10.18}, {'connected_gene': 'TPM3', 'score': 10.06}, {'connected_gene': 'MIR190B', 'score': 10.06}, {'connected_gene': 'C1orf189', 'score': 9.99}, {'connected_gene': 'UBE2Q1-AS1', 'score': 9.42}, {'connected_gene': 'ADAR', 'score': 8.78}, {'connected_gene': 'ATP8B2', 'score': 7.02}, {'connected_gene': 'AQP10', 'score': 0.44}]