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_007144	[[36890149, 36891853], [36892342, 36892423], [36894605, 36894701], [36894793, 36894848], [36895005, 36895114], [36895320, 36895371], [36895450, 36895506], [36895838, 36895935], [36896543, 36896695], [36904131, 36904224], [36904448, 36904558]]	[[36891475, 36891853], [36892342, 36892423], [36894605, 36894701], [36894793, 36894848], [36895005, 36895114], [36895320, 36895371], [36895450, 36895506], [36895838, 36895935], [36896543, 36896655]]

Promoter

Chrom	Start	End	Description
chr17	36896579	36896594	CAGE_peak_8_at_PCGF2_5end
chr17	36896663	36896699	CAGE_peak_7_at_PCGF2_5end
chr17	36903154	36903161	CAGE_peak_17_at_PCGF2_5end
chr17	36904227	36904255	CAGE_peak_6_at_PCGF2_5end
chr17	36904291	36904311	CAGE_peak_4_at_PCGF2_5end
chr17	36904548	36904616	CAGE_peak_1_at_PCGF2_5end
chr17	36904663	36904674	CAGE_peak_5_at_PCGF2_5end
chr17	36904687	36904698	CAGE_peak_9_at_PCGF2_5end
chr17	36904707	36904714	CAGE_peak_10_at_PCGF2_5end
chr17	36905989	36905999	CAGE_peak_16_at_PCGF2_5end
chr17	36906019	36906052	CAGE_peak_2_at_PCGF2_5end
chr17	36906058	36906105	CAGE_peak_3_at_PCGF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH17I038715	38715407	38716341	0.63	[{'connected_gene': 'PCGF2', 'score': 12.19}, {'connected_gene': 'PSMB3', 'score': 11.72}, {'connected_gene': 'MIR4726', 'score': 0.77}, {'connected_gene': 'ENSG00000275665', 'score': 0.77}, {'connected_gene': 'ENSG00000275532', 'score': 0.44}, {'connected_gene': 'MLLT6', 'score': 0.39}]
chr17	GH17I038745	38745454	38754092	2.36	[{'connected_gene': 'PCGF2', 'score': 588.17}, {'connected_gene': 'PSMB3', 'score': 558.06}, {'connected_gene': 'LOC100287808', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 125.47}, {'connected_gene': 'CDK12', 'score': 112.07}, {'connected_gene': 'LOC105371762', 'score': 72.03}, {'connected_gene': 'SNORA21', 'score': 65.09}, {'connected_gene': 'RPL23', 'score': 19.41}, {'connected_gene': 'RPL19', 'score': 19.0}, {'connected_gene': 'CISD3', 'score': 10.83}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'FBXL20', 'score': 9.96}, {'connected_gene': 'PIR53258', 'score': 0.77}, {'connected_gene': 'PIR53172', 'score': 0.77}, {'connected_gene': 'TRN-GTT2-5', 'score': 0.77}]
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	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	GH17I038735	38735125	38735617	1.05	[{'connected_gene': 'MLLT6', 'score': 11.64}, {'connected_gene': 'CWC25', 'score': 10.33}, {'connected_gene': 'GC17M038732', 'score': 0.77}, {'connected_gene': 'RNA5SP440', 'score': 0.77}, {'connected_gene': 'CISD3', 'score': 0.44}, {'connected_gene': 'PCGF2', 'score': 0.39}, {'connected_gene': 'LOC100287808', 'score': 0.39}]
chr17	GH17I038699	38699752	38707563	2.34	[{'connected_gene': 'MLLT6', 'score': 556.63}, {'connected_gene': 'ENSG00000277969', 'score': 550.77}, {'connected_gene': 'MIR4734', 'score': 550.77}, {'connected_gene': 'GC17P038706', 'score': 550.77}, {'connected_gene': 'LOC105371764', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 33.13}, {'connected_gene': 'LOC105371762', 'score': 26.68}, {'connected_gene': 'PCGF2', 'score': 24.87}, {'connected_gene': 'MED1', 'score': 23.27}, {'connected_gene': 'SNORA21', 'score': 22.22}, {'connected_gene': 'PGAP3', 'score': 13.7}, {'connected_gene': 'CISD3', 'score': 12.47}, {'connected_gene': 'RPL23', 'score': 11.03}, {'connected_gene': 'RPL19', 'score': 10.49}, {'connected_gene': 'ENSG00000275532', 'score': 0.77}, {'connected_gene': 'LOC105371763', '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	GH17I038840	38840600	38841616	1.49	[{'connected_gene': 'C17orf98', 'score': 550.77}, {'connected_gene': 'CWC25', 'score': 6.6}, {'connected_gene': 'PCGF2', 'score': 5.56}, {'connected_gene': 'GC17M038833', 'score': 0.44}]
chr17	GH17I038724	38724044	38734880	2.28	[{'connected_gene': 'CISD3', 'score': 558.88}, {'connected_gene': 'ENSG00000279119', 'score': 550.77}, {'connected_gene': 'PCGF2', 'score': 34.52}, {'connected_gene': 'MED1', 'score': 27.58}, {'connected_gene': 'CDK12', 'score': 26.35}, {'connected_gene': 'RPL23', 'score': 21.93}, {'connected_gene': 'LOC105371762', 'score': 20.64}, {'connected_gene': 'MLLT6', 'score': 16.67}, {'connected_gene': 'PGAP3', 'score': 13.7}, {'connected_gene': 'STARD3', 'score': 12.22}, {'connected_gene': 'PSMB3', 'score': 12.03}, {'connected_gene': 'CWC25', 'score': 10.33}, {'connected_gene': 'RPL19', 'score': 10.13}, {'connected_gene': 'FBXL20', 'score': 9.71}, {'connected_gene': 'STAC2', 'score': 5.38}, {'connected_gene': 'RNA5SP440', 'score': 0.77}, {'connected_gene': 'GC17M038732', 'score': 0.77}, {'connected_gene': 'GC17P038724', 'score': 0.44}, {'connected_gene': 'GC17M038716', 'score': 0.44}]
chr17	GH17I038685	38685358	38685973	0.51	[{'connected_gene': 'CISD3', 'score': 12.23}, {'connected_gene': 'PCGF2', 'score': 11.57}, {'connected_gene': 'PSMB3', 'score': 11.04}, {'connected_gene': 'GC17M038684', 'score': 0.44}, {'connected_gene': 'EPOP', 'score': 0.39}, {'connected_gene': 'LOC105371764', 'score': 0.37}]
chr17	GH17I038668	38667628	38667797	0.97	[{'connected_gene': 'LOC105371762', 'score': 18.87}, {'connected_gene': 'CDK12', 'score': 18.37}, {'connected_gene': 'MED1', 'score': 12.12}, {'connected_gene': 'RPL19', 'score': 10.22}, {'connected_gene': 'PCGF2', 'score': 7.6}, {'connected_gene': 'GC17M038673', 'score': 0.44}, {'connected_gene': 'GC17M038636', 'score': 0.29}]
chr17	GH17I038718	38718381	38720083	1.02	[{'connected_gene': 'LOC105371762', 'score': 550.77}, {'connected_gene': 'ENSG00000275665', 'score': 550.77}, {'connected_gene': 'MIR4726', 'score': 550.77}, {'connected_gene': 'PCGF2', 'score': 12.19}, {'connected_gene': 'PSMB3', 'score': 11.74}, {'connected_gene': 'GC17M038716', 'score': 0.44}, {'connected_gene': 'ENSG00000275532', 'score': 0.39}, {'connected_gene': 'MLLT6', 'score': 0.39}]
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	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	GH17I038722	38722689	38723418	0.31	[{'connected_gene': 'GC17P038724', 'score': 550.77}, {'connected_gene': 'GC17M038716', 'score': 550.77}, {'connected_gene': 'PCGF2', 'score': 8.62}, {'connected_gene': 'LOC105371762', 'score': 0.77}, {'connected_gene': 'MLLT6', 'score': 0.37}]
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}]