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_005937	[[36861872, 36861994], [36863202, 36863282], [36863738, 36863793], [36864015, 36864125], [36865425, 36865529], [36865734, 36865828], [36868099, 36868267], [36868943, 36869042], [36871864, 36872081], [36872619, 36873234], [36873684, 36873866], [36874097, 36874206], [36875769, 36875836], [36876002, 36876148], [36876624, 36876822], [36876911, 36877000], [36878130, 36878480], [36878930, 36879021], [36880872, 36881229], [36881809, 36886056]]	[[36861885, 36861994], [36863202, 36863282], [36863738, 36863793], [36864015, 36864125], [36865425, 36865529], [36865734, 36865828], [36868099, 36868267], [36868943, 36869042], [36871864, 36872081], [36872619, 36873234], [36873684, 36873866], [36874097, 36874206], [36875769, 36875836], [36876002, 36876148], [36876624, 36876822], [36876911, 36877000], [36878130, 36878480], [36878930, 36879021], [36880872, 36881229], [36881809, 36881851]]

Promoter

Chrom	Start	End	Description
chr17	36861393	36861439	CAGE_peak_2_at_MLLT6_5end
chr17	36861496	36861586	CAGE_peak_1_at_MLLT6_5end
chr17	36861675	36861697	CAGE_peak_3_at_MLLT6_5end
chr17	36861735	36861755	CAGE_peak_4_at_MLLT6_5end
chr17	36871943	36871947	CAGE_peak_8_at_MLLT6_5end
chr17	36873780	36873800	CAGE_peak_5_at_MLLT6_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	GH17I038713	38712188	38712297	0.66	[{'connected_gene': 'PSMB3', 'score': 11.21}, {'connected_gene': 'MIR4726', 'score': 0.44}, {'connected_gene': 'MLLT6', 'score': 0.44}, {'connected_gene': 'ENSG00000275532', 'score': 0.44}]
chr17	GH17I039516	39516962	39517993	0.38	[{'connected_gene': 'MLLT6', 'score': 5.0}, {'connected_gene': 'MED24', 'score': 4.94}, {'connected_gene': 'STARD3', 'score': 4.38}, {'connected_gene': 'RNU6-233P', 'score': 0.31}, {'connected_gene': 'CDK12', 'score': 0.22}]
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	GH17I039231	39231475	39232642	1.08	[{'connected_gene': 'MLLT6', 'score': 4.67}, {'connected_gene': 'LOC101929578', 'score': 0.44}, {'connected_gene': 'STAC2', 'score': 0.44}, {'connected_gene': 'GC17P039212', 'score': 0.37}]
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	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	GH17I038709	38709067	38711328	0.79	[{'connected_gene': 'CISD3', 'score': 12.52}, {'connected_gene': 'PSMB3', 'score': 11.21}, {'connected_gene': 'MLLT6', 'score': 0.77}, {'connected_gene': 'ENSG00000275532', 'score': 0.77}, {'connected_gene': 'MIR4726', 'score': 0.44}]
chr17	GH17I039573	39573068	39574489	1.09	[{'connected_gene': 'LOC105371770', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 10.53}, {'connected_gene': 'MLLT6', 'score': 5.25}, {'connected_gene': 'LOC105371771', 'score': 0.34}]
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	GH17I038720	38720148	38720297	0.59	[{'connected_gene': 'LOC105371762', 'score': 550.77}, {'connected_gene': 'MIR4726', 'score': 550.77}, {'connected_gene': 'ENSG00000275665', 'score': 550.77}, {'connected_gene': 'PSMB3', 'score': 10.87}, {'connected_gene': 'GC17M038716', 'score': 0.77}, {'connected_gene': 'MLLT6', 'score': 0.39}]
chr17	GH17I038721	38720108	38720117	0.56	[{'connected_gene': 'LOC105371762', 'score': 550.77}, {'connected_gene': 'MIR4726', 'score': 550.77}, {'connected_gene': 'ENSG00000275665', 'score': 550.77}, {'connected_gene': 'PSMB3', 'score': 10.87}, {'connected_gene': 'GC17M038716', 'score': 0.77}, {'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	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	GH17I039092	39092013	39097646	1.12	[{'connected_gene': 'PIR45010', 'score': 550.77}, {'connected_gene': 'PLXDC1', 'score': 33.0}, {'connected_gene': 'LOC105371762', 'score': 24.43}, {'connected_gene': 'MED1', 'score': 23.84}, {'connected_gene': 'SNORD124', 'score': 23.36}, {'connected_gene': 'CDK12', 'score': 22.29}, {'connected_gene': 'SNORA21', 'score': 22.06}, {'connected_gene': 'MED24', 'score': 19.04}, {'connected_gene': 'STARD3', 'score': 9.9}, {'connected_gene': 'SNORA21B', 'score': 5.44}, {'connected_gene': 'LRRC37A11P', 'score': 4.93}, {'connected_gene': 'MLLT6', 'score': 4.65}, {'connected_gene': 'FBXL20', 'score': 1.7}, {'connected_gene': 'CWC25', 'score': 1.24}, {'connected_gene': 'LOC100131347', 'score': 0.28}, {'connected_gene': 'TRC-GCA2-3', 'score': 0.22}]
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}]