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
ENST00000369153	[[149859439, 149859673], [149871012, 149871225], [149871395, 149872044]]	[[149871612, 149872026]]
ENST00000369152	[[149871149, 149871225], [149871562, 149872345]]	[[149871612, 149872026]]
ENST00000476344	[[149871158, 149871225], [149871675, 149872351]]	None
ENST00000369150	[[149871178, 149871283], [149871395, 149872101]]	[[149871612, 149872026]]
NM_016074	[[149871134, 149871225], [149871562, 149872348]]	[[149871612, 149872026]]
NM_001321025	[[149871134, 149871225], [149871395, 149872348]]	[[149871612, 149872026]]
NM_001321026	[[149871134, 149871283], [149871395, 149872348]]	[[149871612, 149872026]]

Promoter

Chrom	Start	End	Description
chr1	149858461	149858479	CAGE_peak_1_at_BOLA1_5end
chr1	149871114	149871134	CAGE_peak_3_at_BOLA1_5end
chr1	149871135	149871169	CAGE_peak_2_at_BOLA1_5end
chr1	149871171	149871192	CAGE_peak_4_at_BOLA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I150000	150000575	150004569	0.79	[{'connected_gene': 'SV2A', 'score': 26.68}, {'connected_gene': 'PRPF3', 'score': 22.7}, {'connected_gene': 'HIST2H2AB', 'score': 22.02}, {'connected_gene': 'SF3B4', 'score': 21.4}, {'connected_gene': 'SETDB1', 'score': 18.48}, {'connected_gene': 'RPRD2', 'score': 17.77}, {'connected_gene': 'UBE2D3P3', 'score': 15.05}, {'connected_gene': 'VPS45', 'score': 13.6}, {'connected_gene': 'ARNT', 'score': 12.98}, {'connected_gene': 'MTMR11', 'score': 11.07}, {'connected_gene': 'BOLA1', 'score': 11.04}, {'connected_gene': 'HIST2H2AC', 'score': 11.04}, {'connected_gene': 'HIST2H2BE', 'score': 11.04}, {'connected_gene': 'PLEKHO1', 'score': 10.23}, {'connected_gene': 'HIST2H2AA3', 'score': 4.38}, {'connected_gene': 'OTUD7B', 'score': 0.44}, {'connected_gene': 'PIR49087', 'score': 0.21}]
chr1	GH01I150001	149999562	150000384	0.2	[{'connected_gene': 'SV2A', 'score': 18.87}, {'connected_gene': 'MTMR11', 'score': 11.08}, {'connected_gene': 'HIST2H2AC', 'score': 10.35}, {'connected_gene': 'HIST2H2AB', 'score': 10.35}, {'connected_gene': 'HIST2H2BE', 'score': 10.35}, {'connected_gene': 'BOLA1', 'score': 10.35}, {'connected_gene': 'PLEKHO1', 'score': 10.23}, {'connected_gene': 'OTUD7B', 'score': 0.39}, {'connected_gene': 'PIR49087', 'score': 0.21}]
chr1	GH01I149997	149997401	149998200	1.19	[{'connected_gene': 'SV2A', 'score': 15.38}, {'connected_gene': 'MTMR11', 'score': 11.08}, {'connected_gene': 'HIST2H2AB', 'score': 10.36}, {'connected_gene': 'BOLA1', 'score': 10.36}, {'connected_gene': 'HIST2H2AC', 'score': 10.35}, {'connected_gene': 'HIST2H2BE', 'score': 10.35}, {'connected_gene': 'PLEKHO1', 'score': 10.22}, {'connected_gene': 'OTUD7B', 'score': 0.39}, {'connected_gene': 'PIR49087', 'score': 0.22}]
chr1	GH01I150051	150051001	150051200	0.62	[{'connected_gene': 'HIST2H2AC', 'score': 11.82}, {'connected_gene': 'HIST2H2BE', 'score': 11.82}, {'connected_gene': 'BOLA1', 'score': 11.82}, {'connected_gene': 'OTUD7B', 'score': 11.42}, {'connected_gene': 'PLEKHO1', 'score': 11.2}, {'connected_gene': 'LOC441907', 'score': 0.77}, {'connected_gene': 'GC01M150049', 'score': 0.44}, {'connected_gene': 'LOC105371427', 'score': 0.37}]
chr1	GH01I150061	150061386	150062280	0.79	[{'connected_gene': 'HIST2H2AC', 'score': 14.66}, {'connected_gene': 'OTUD7B', 'score': 11.24}, {'connected_gene': 'MTMR11', 'score': 11.2}, {'connected_gene': 'PLEKHO1', 'score': 11.04}, {'connected_gene': 'HIST2H2AA3', 'score': 10.32}, {'connected_gene': 'HIST2H2BD', 'score': 10.32}, {'connected_gene': 'SF3B4', 'score': 10.32}, {'connected_gene': 'HIST2H3C', 'score': 10.32}, {'connected_gene': 'HIST2H2BE', 'score': 10.05}, {'connected_gene': 'BOLA1', 'score': 10.05}, {'connected_gene': 'LOC105371427', 'score': 0.44}, {'connected_gene': 'LOC441907', 'score': 0.44}, {'connected_gene': 'GC01M150063', 'score': 0.44}]
chr1	GH01I149840	149840200	149846393	2	[{'connected_gene': 'HIST2H2AA3', 'score': 555.39}, {'connected_gene': 'HIST2H3C', 'score': 550.77}, {'connected_gene': 'GC01P149843', 'score': 550.77}, {'connected_gene': 'HIST2H2BD', 'score': 550.77}, {'connected_gene': 'SV2A', 'score': 20.53}, {'connected_gene': 'HIST2H2AC', 'score': 12.95}, {'connected_gene': 'HIST2H2BE', 'score': 12.95}, {'connected_gene': 'BOLA1', 'score': 12.95}, {'connected_gene': 'MTMR11', 'score': 9.57}, {'connected_gene': 'ENSG00000261716', 'score': 5.25}, {'connected_gene': 'ENSG00000272993', 'score': 0.77}]
chr1	GH01I150486	150486785	150488494	2.13	[{'connected_gene': 'TARS2', 'score': 557.61}, {'connected_gene': 'SETDB1', 'score': 83.75}, {'connected_gene': 'PRPF3', 'score': 69.34}, {'connected_gene': 'GABPB2', 'score': 63.62}, {'connected_gene': 'PIP5K1A', 'score': 60.04}, {'connected_gene': 'SF3B4', 'score': 57.29}, {'connected_gene': 'PI4KB', 'score': 51.89}, {'connected_gene': 'ZNF687', 'score': 51.02}, {'connected_gene': 'UBE2D3P3', 'score': 37.23}, {'connected_gene': 'RPRD2', 'score': 36.7}, {'connected_gene': 'ARNT', 'score': 32.33}, {'connected_gene': 'GOLPH3L', 'score': 31.19}, {'connected_gene': 'ADAMTSL4', 'score': 21.46}, {'connected_gene': 'MRPS21', 'score': 19.9}, {'connected_gene': 'POGZ', 'score': 19.79}, {'connected_gene': 'HIST2H2AB', 'score': 19.34}, {'connected_gene': 'HIST2H2BC', 'score': 18.62}, {'connected_gene': 'C1orf56', 'score': 13.32}, {'connected_gene': 'BOLA1', 'score': 12.38}, {'connected_gene': 'HIST2H2BD', 'score': 11.73}, {'connected_gene': 'APH1A', 'score': 10.58}, {'connected_gene': 'ENSG00000261716', 'score': 10.55}, {'connected_gene': 'RN7SL444P', 'score': 10.24}, {'connected_gene': 'CTSK', 'score': 10.06}, {'connected_gene': 'MCL1', 'score': 9.81}, {'connected_gene': 'PRUNE1', 'score': 9.73}, {'connected_gene': 'ECM1', 'score': 9.36}, {'connected_gene': 'MIR6878', 'score': 0.77}]
chr1	GH01I150008	150008770	150011646	2.62	[{'connected_gene': 'OTUD7B', 'score': 553.09}, {'connected_gene': 'PRPF3', 'score': 24.87}, {'connected_gene': 'SETDB1', 'score': 23.77}, {'connected_gene': 'MTMR11', 'score': 18.5}, {'connected_gene': 'ARNT', 'score': 14.12}, {'connected_gene': 'ADAMTSL4', 'score': 14.11}, {'connected_gene': 'SV2A', 'score': 13.5}, {'connected_gene': 'UBE2D3P3', 'score': 13.49}, {'connected_gene': 'RPRD2', 'score': 12.01}, {'connected_gene': 'CTSK', 'score': 11.78}, {'connected_gene': 'SF3B4', 'score': 11.16}, {'connected_gene': 'HIST2H2AB', 'score': 10.42}, {'connected_gene': 'BOLA1', 'score': 10.42}, {'connected_gene': 'HIST2H2AC', 'score': 10.42}, {'connected_gene': 'HIST2H2BE', 'score': 10.42}, {'connected_gene': 'MCL1', 'score': 9.68}, {'connected_gene': 'CA14', 'score': 9.21}, {'connected_gene': 'ANP32E', 'score': 1.8}, {'connected_gene': 'PIR49087', 'score': 0.19}]
chr1	GH01I149988	149988178	149989202	0.43	[{'connected_gene': 'OTUD7B', 'score': 11.95}, {'connected_gene': 'MTMR11', 'score': 10.75}, {'connected_gene': 'SV2A', 'score': 10.26}, {'connected_gene': 'SF3B4', 'score': 10.15}, {'connected_gene': 'HIST2H2AC', 'score': 9.55}, {'connected_gene': 'HIST2H2BE', 'score': 9.55}, {'connected_gene': 'BOLA1', 'score': 9.55}, {'connected_gene': 'PIR49087', 'score': 0.25}]
chr1	GH01I149999	149999022	149999081	0.7	[{'connected_gene': 'OTUD7B', 'score': 550.39}, {'connected_gene': 'MTMR11', 'score': 11.08}, {'connected_gene': 'HIST2H2AC', 'score': 10.35}, {'connected_gene': 'HIST2H2AB', 'score': 10.35}, {'connected_gene': 'HIST2H2BE', 'score': 10.35}, {'connected_gene': 'BOLA1', 'score': 10.35}, {'connected_gene': 'PLEKHO1', 'score': 10.22}, {'connected_gene': 'PIR49087', 'score': 0.22}]
chr1	GH01I149985	149985700	149987828	1.1	[{'connected_gene': 'OTUD7B', 'score': 12.25}, {'connected_gene': 'MTMR11', 'score': 11.3}, {'connected_gene': 'SF3B4', 'score': 11.05}, {'connected_gene': 'SV2A', 'score': 10.84}, {'connected_gene': 'HIST2H2AC', 'score': 10.22}, {'connected_gene': 'BOLA1', 'score': 10.22}, {'connected_gene': 'HIST2H2BE', 'score': 10.21}, {'connected_gene': 'PIR49087', 'score': 0.25}]
chr1	GH01I150177	150177483	150178790	0.71	[{'connected_gene': 'PLEKHO1', 'score': 12.14}, {'connected_gene': 'HIST2H2AC', 'score': 10.6}, {'connected_gene': 'HIST2H2BE', 'score': 10.6}, {'connected_gene': 'BOLA1', 'score': 10.6}, {'connected_gene': 'CIART', 'score': 10.16}, {'connected_gene': 'LOC105371433', 'score': 0.37}, {'connected_gene': 'GC01P150213', 'score': 0.29}]
chr1	GH01I150191	150191185	150193282	0.77	[{'connected_gene': 'PLEKHO1', 'score': 11.33}, {'connected_gene': 'VPS45', 'score': 10.97}, {'connected_gene': 'MTMR11', 'score': 10.79}, {'connected_gene': 'HIST2H2AC', 'score': 10.78}, {'connected_gene': 'HIST2H2BE', 'score': 10.78}, {'connected_gene': 'BOLA1', 'score': 10.78}, {'connected_gene': 'SF3B4', 'score': 10.59}, {'connected_gene': 'C1orf54', 'score': 10.42}, {'connected_gene': 'APH1A', 'score': 10.42}, {'connected_gene': 'CA14', 'score': 10.32}, {'connected_gene': 'CIART', 'score': 10.05}, {'connected_gene': 'TARS2', 'score': 8.66}, {'connected_gene': 'GC01P150213', 'score': 0.37}, {'connected_gene': 'LOC105371433', 'score': 0.29}]
chr1	GH01I150176	150176801	150177400	0.63	[{'connected_gene': 'PLEKHO1', 'score': 19.13}, {'connected_gene': 'MTMR11', 'score': 10.68}, {'connected_gene': 'BOLA1', 'score': 10.61}, {'connected_gene': 'HIST2H2AC', 'score': 10.6}, {'connected_gene': 'HIST2H2BE', 'score': 10.6}, {'connected_gene': 'CIART', 'score': 10.15}, {'connected_gene': 'LOC105371433', 'score': 0.37}, {'connected_gene': 'GC01P150213', 'score': 0.29}]
chr1	GH01I149883	149883776	149889629	2.34	[{'connected_gene': 'HIST2H2AB', 'score': 593.89}, {'connected_gene': 'BOLA1', 'score': 550.77}, {'connected_gene': 'HIST2H2AC', 'score': 550.77}, {'connected_gene': 'HIST2H2BE', 'score': 550.77}, {'connected_gene': 'GC01M149896', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 137.37}, {'connected_gene': 'SF3B4', 'score': 106.47}, {'connected_gene': 'UBE2D3P3', 'score': 78.45}, {'connected_gene': 'ARNT', 'score': 76.85}, {'connected_gene': 'GOLPH3L', 'score': 48.95}, {'connected_gene': 'HIST2H2BD', 'score': 45.6}, {'connected_gene': 'CTSK', 'score': 44.14}, {'connected_gene': 'HIST2H2BC', 'score': 35.25}, {'connected_gene': 'RPRD2', 'score': 30.8}, {'connected_gene': 'SV2A', 'score': 28.95}, {'connected_gene': 'APH1A', 'score': 18.71}, {'connected_gene': 'ADAMTSL4', 'score': 14.11}, {'connected_gene': 'VPS45', 'score': 13.48}, {'connected_gene': 'ENSG00000261716', 'score': 10.8}, {'connected_gene': 'MCL1', 'score': 9.68}, {'connected_gene': 'C1orf54', 'score': 4.46}, {'connected_gene': 'LOC102723955', 'score': 4.26}, {'connected_gene': 'MTMR11', 'score': 4.1}]
chr1	GH01I149961	149961637	149962591	0.79	[{'connected_gene': 'MTMR11', 'score': 12.07}, {'connected_gene': 'SF3B4', 'score': 11.13}, {'connected_gene': 'OTUD7B', 'score': 11.12}, {'connected_gene': 'SV2A', 'score': 11.1}, {'connected_gene': 'VPS45', 'score': 11.08}, {'connected_gene': 'BOLA1', 'score': 11.02}, {'connected_gene': 'HIST2H2AC', 'score': 11.01}, {'connected_gene': 'HIST2H2BE', 'score': 11.01}, {'connected_gene': 'HIST2H2AB', 'score': 10.94}, {'connected_gene': 'PLEKHO1', 'score': 10.9}, {'connected_gene': 'CA14', 'score': 9.16}, {'connected_gene': 'C1orf54', 'score': 3.83}, {'connected_gene': 'PIR49087', 'score': 0.34}]
chr1	GH01I149846	149846917	149853601	2.2	[{'connected_gene': 'ENSG00000261716', 'score': 555.59}, {'connected_gene': 'HIST2H2AA4', 'score': 550.77}, {'connected_gene': 'GC01M149850', 'score': 550.77}, {'connected_gene': 'HIST2H2BC', 'score': 550.77}, {'connected_gene': 'HIST2H3A', 'score': 550.77}, {'connected_gene': 'HIST2H2AC', 'score': 12.03}, {'connected_gene': 'HIST2H2BE', 'score': 12.03}, {'connected_gene': 'BOLA1', 'score': 12.03}, {'connected_gene': 'MTMR11', 'score': 9.58}, {'connected_gene': 'HIST2H2AA3', 'score': 4.84}, {'connected_gene': 'LOC102723955', 'score': 4.11}]
chr1	GH01I149898	149898968	149900719	2	[{'connected_gene': 'PIR37951', 'score': 550.77}, {'connected_gene': 'BOLA1', 'score': 550.39}, {'connected_gene': 'PRPF3', 'score': 56.96}, {'connected_gene': 'SF3B4', 'score': 50.38}, {'connected_gene': 'UBE2D3P3', 'score': 40.91}, {'connected_gene': 'ARNT', 'score': 33.91}, {'connected_gene': 'GOLPH3L', 'score': 23.61}, {'connected_gene': 'RPRD2', 'score': 22.35}, {'connected_gene': 'SV2A', 'score': 21.18}, {'connected_gene': 'CTSK', 'score': 15.05}, {'connected_gene': 'HIST2H2AB', 'score': 13.11}, {'connected_gene': 'MTMR11', 'score': 10.21}, {'connected_gene': 'HIST2H2BC', 'score': 10.18}, {'connected_gene': 'ADAMTSL4', 'score': 9.85}, {'connected_gene': 'GC01P149895', 'score': 0.77}]