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_003559	[[36921943, 36926024], [36926688, 36926792], [36927266, 36927525], [36933939, 36934053], [36934586, 36934625], [36935635, 36935782], [36936704, 36936857], [36940495, 36940592], [36943075, 36943173], [36955518, 36956158]]	[[36925943, 36926024], [36926688, 36926792], [36927266, 36927525], [36933939, 36934053], [36934586, 36934625], [36935635, 36935782], [36936704, 36936857], [36940495, 36940592], [36943075, 36943173], [36955518, 36955677]]

Promoter

Chrom	Start	End	Description
chr17	36955663	36955852	CAGE_peak_1_at_PIP4K2B_5end
chr17	36956155	36956223	CAGE_peak_2_at_PIP4K2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I038788	38788808	38790503	0.52	[{'connected_gene': 'PIP4K2B', 'score': 8.8}, {'connected_gene': 'PSMB3', 'score': 8.54}, {'connected_gene': 'TCAP', 'score': 5.37}, {'connected_gene': 'TBC1D3', 'score': 4.49}, {'connected_gene': 'GC17M038796', 'score': 0.44}, {'connected_gene': 'GC17M038766', 'score': 0.34}]
chr17	GH17I038795	38795827	38800800	2.08	[{'connected_gene': 'PIP4K2B', 'score': 555.4}, {'connected_gene': 'GC17M038796', 'score': 550.77}, {'connected_gene': 'LOC105371762', 'score': 11.04}, {'connected_gene': 'CWC25', 'score': 10.53}, {'connected_gene': 'LASP1', 'score': 4.81}, {'connected_gene': 'GC17M038766', 'score': 0.31}]
chr17	GH17I038850	38850879	38856117	2.36	[{'connected_gene': 'SNORA21', 'score': 590.58}, {'connected_gene': 'RPL23', 'score': 561.69}, {'connected_gene': 'RPS20P35', 'score': 556.59}, {'connected_gene': 'PIR54049', 'score': 550.77}, {'connected_gene': 'GC17M038862', 'score': 550.77}, {'connected_gene': 'GC17M038850', 'score': 550.77}, {'connected_gene': 'GC17M038858', 'score': 550.77}, {'connected_gene': 'GC17M038875', 'score': 550.77}, {'connected_gene': 'PIR38457', 'score': 550.77}, {'connected_gene': 'GC17M038872', 'score': 550.77}, {'connected_gene': 'SNORA21B', 'score': 550.77}, {'connected_gene': 'GC17P038858', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 44.29}, {'connected_gene': 'MED1', 'score': 26.17}, {'connected_gene': 'LOC105371762', 'score': 24.52}, {'connected_gene': 'RPL19', 'score': 18.65}, {'connected_gene': 'STARD3', 'score': 12.57}, {'connected_gene': 'PCGF2', 'score': 11.6}, {'connected_gene': 'LASP1', 'score': 5.58}, {'connected_gene': 'PSMB3', 'score': 5.06}, {'connected_gene': 'C17orf98', 'score': 5.01}, {'connected_gene': 'PIP4K2B', 'score': 4.92}, {'connected_gene': 'CWC25', 'score': 4.74}, {'connected_gene': 'FBXO47', 'score': 2.78}]
chr17	GH17I038876	38876583	38887714	1.38	[{'connected_gene': 'SNORA21', 'score': 22.77}, {'connected_gene': 'MED1', 'score': 20.39}, {'connected_gene': 'RPS20P35', 'score': 13.04}, {'connected_gene': 'RPL23', 'score': 13.04}, {'connected_gene': 'SNORA21B', 'score': 13.03}, {'connected_gene': 'C17orf98', 'score': 11.85}, {'connected_gene': 'CWC25', 'score': 11.29}, {'connected_gene': 'PSMB3', 'score': 10.93}, {'connected_gene': 'LASP1', 'score': 9.99}, {'connected_gene': 'PCGF2', 'score': 7.25}, {'connected_gene': 'PPP1R1B', 'score': 5.75}, {'connected_gene': 'PIP4K2B', 'score': 5.44}, {'connected_gene': 'TBC1D3', 'score': 4.78}, {'connected_gene': 'TCAP', 'score': 4.11}, {'connected_gene': 'GC17M038893', 'score': 0.39}]
chr17	GH17I038823	38823443	38826432	2.13	[{'connected_gene': 'CWC25', 'score': 561.52}, {'connected_gene': 'MIR4727', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 107.87}, {'connected_gene': 'CDK12', 'score': 78.98}, {'connected_gene': 'SNORA21', 'score': 69.71}, {'connected_gene': 'LOC105371762', 'score': 46.97}, {'connected_gene': 'RPL23', 'score': 25.78}, {'connected_gene': 'STARD3', 'score': 20.72}, {'connected_gene': 'RPL19', 'score': 18.64}, {'connected_gene': 'PIP4K2B', 'score': 14.26}, {'connected_gene': 'PSMB3', 'score': 8.22}, {'connected_gene': 'LASP1', 'score': 5.0}, {'connected_gene': 'C17orf98', 'score': 0.37}, {'connected_gene': 'PIR39214', 'score': 0.34}]
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	GH17I038889	38889809	38894785	1.22	[{'connected_gene': 'LASP1', 'score': 12.32}, {'connected_gene': 'RPS20P35', 'score': 12.26}, {'connected_gene': 'RPL23', 'score': 12.26}, {'connected_gene': 'SNORA21', 'score': 12.26}, {'connected_gene': 'SNORA21B', 'score': 12.24}, {'connected_gene': 'CWC25', 'score': 11.27}, {'connected_gene': 'PIP4K2B', 'score': 5.31}, {'connected_gene': 'PSMB3', 'score': 4.85}, {'connected_gene': 'GC17M038893', 'score': 0.77}]
chr17	GH17I038740	38740736	38744374	1.43	[{'connected_gene': 'C17orf98', 'score': 36.14}, {'connected_gene': 'PCGF2', 'score': 23.16}, {'connected_gene': 'MLLT6', 'score': 15.9}, {'connected_gene': 'FBXO47', 'score': 11.18}, {'connected_gene': 'PIP4K2B', 'score': 10.55}, {'connected_gene': 'SOCS7', 'score': 5.51}, {'connected_gene': 'PSMB3', 'score': 5.45}, {'connected_gene': 'CISD3', 'score': 5.34}, {'connected_gene': 'LOC100287808', 'score': 0.44}, {'connected_gene': 'GC17M038732', 'score': 0.39}, {'connected_gene': 'RNA5SP440', 'score': 0.39}]
chr17	GH17I038923	38923801	38924400	1.04	[{'connected_gene': 'LINC00672', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 86.82}, {'connected_gene': 'CDK12', 'score': 70.91}, {'connected_gene': 'SNORA21', 'score': 69.67}, {'connected_gene': 'LOC105371762', 'score': 55.88}, {'connected_gene': 'RPL23', 'score': 25.66}, {'connected_gene': 'FBXO47', 'score': 11.76}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'CWC25', 'score': 10.6}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'STARD3', 'score': 9.89}, {'connected_gene': 'ENSG00000265784', 'score': 0.77}]
chr17	GH17I038925	38925056	38927117	1.23	[{'connected_gene': 'LINC00672', 'score': 550.77}, {'connected_gene': 'ENSG00000266588', 'score': 25.94}, {'connected_gene': 'FBXO47', 'score': 11.76}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'CWC25', 'score': 10.59}, {'connected_gene': 'GC17M038934', 'score': 0.39}]
chr17	GH17I038862	38861708	38861737	0.87	[{'connected_gene': 'TRC-GCA14-1', 'score': 550.77}, {'connected_gene': 'GC17M038870', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 14.17}, {'connected_gene': 'PIP4K2B', 'score': 5.43}, {'connected_gene': 'PIR38457', 'score': 0.44}]
chr17	GH17I038676	38676254	38676377	0.54	[{'connected_gene': 'EPOP', 'score': 550.77}, {'connected_gene': 'MLLT6', 'score': 12.68}, {'connected_gene': 'PCGF2', 'score': 12.41}, {'connected_gene': 'CISD3', 'score': 12.3}, {'connected_gene': 'PSMB3', 'score': 11.06}, {'connected_gene': 'PIP4K2B', 'score': 11.06}, {'connected_gene': 'CWC25', 'score': 10.23}, {'connected_gene': 'GC17M038684', 'score': 0.37}]
chr17	GH17I038677	38676802	38677600	1.2	[{'connected_gene': 'EPOP', 'score': 550.77}, {'connected_gene': 'MLLT6', 'score': 12.68}, {'connected_gene': 'PCGF2', 'score': 12.41}, {'connected_gene': 'CISD3', 'score': 12.3}, {'connected_gene': 'PSMB3', 'score': 11.06}, {'connected_gene': 'PIP4K2B', 'score': 11.06}, {'connected_gene': 'CWC25', 'score': 10.23}, {'connected_gene': 'GC17M038684', 'score': 0.37}]
chr17	GH17I038920	38920653	38923797	1.23	[{'connected_gene': 'ENSG00000265784', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 86.82}, {'connected_gene': 'CDK12', 'score': 70.91}, {'connected_gene': 'SNORA21', 'score': 69.68}, {'connected_gene': 'LOC105371762', 'score': 55.88}, {'connected_gene': 'RPL23', 'score': 25.67}, {'connected_gene': 'FBXO47', 'score': 11.75}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'CWC25', 'score': 10.86}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'STARD3', 'score': 9.89}, {'connected_gene': 'LINC00672', 'score': 5.06}, {'connected_gene': 'LASP1', 'score': 0.23}]
chr17	GH17I038834	38834797	38836326	0.49	[{'connected_gene': 'GC17M038833', 'score': 550.77}, {'connected_gene': 'PIP4K2B', 'score': 6.88}, {'connected_gene': 'PCGF2', 'score': 5.61}, {'connected_gene': 'LASP1', 'score': 5.12}, {'connected_gene': 'C17orf98', 'score': 0.44}]
chr17	GH17I038791	38791071	38791435	0.44	[{'connected_gene': 'GC17M038796', 'score': 0.44}, {'connected_gene': 'PIP4K2B', 'score': 0.44}, {'connected_gene': 'GC17M038766', 'score': 0.34}]
chr17	GH17I038600	38600370	38603582	1.55	[{'connected_gene': 'ENSG00000274996', 'score': 550.77}, {'connected_gene': 'GC17P038603', 'score': 550.77}, {'connected_gene': 'LOC105371762', 'score': 18.76}, {'connected_gene': 'CDK12', 'score': 18.37}, {'connected_gene': 'MED1', 'score': 12.12}, {'connected_gene': 'RPL19', 'score': 10.22}, {'connected_gene': 'SRCIN1', 'score': 4.62}, {'connected_gene': 'PIP4K2B', 'score': 2.54}, {'connected_gene': 'SOCS7', 'score': 2.37}, {'connected_gene': 'GPR179', 'score': 1.49}, {'connected_gene': 'ARHGAP23', 'score': 1.27}]
chr17	GH17I038673	38673867	38675577	2.04	[{'connected_gene': 'GC17M038673', 'score': 550.77}, {'connected_gene': 'EPOP', 'score': 550.77}, {'connected_gene': 'PCGF2', 'score': 29.05}, {'connected_gene': 'PIP4K2B', 'score': 16.23}, {'connected_gene': 'MLLT6', 'score': 12.66}, {'connected_gene': 'CISD3', 'score': 12.29}, {'connected_gene': 'PSMB3', 'score': 11.06}, {'connected_gene': 'CWC25', 'score': 10.23}]