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
ENST00000331380	[[149858524, 149858961]]	[[149858524, 149858914]]
NM_003517	[[149858524, 149858961]]	[[149858524, 149858914]]

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	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	GH01I150213	150213082	150214600	1.42	[{'connected_gene': 'GC01P150215', 'score': 550.77}, {'connected_gene': 'GC01P150214', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 19.24}, {'connected_gene': 'SF3B4', 'score': 17.92}, {'connected_gene': 'ANP32E', 'score': 16.41}, {'connected_gene': 'PIP5K1A', 'score': 15.81}, {'connected_gene': 'PRPF3', 'score': 15.57}, {'connected_gene': 'RNU2-17P', 'score': 13.78}, {'connected_gene': 'ARNT', 'score': 12.82}, {'connected_gene': 'HIST2H2AB', 'score': 12.77}, {'connected_gene': 'UBE2D3P3', 'score': 11.81}, {'connected_gene': 'CIART', 'score': 11.6}, {'connected_gene': 'CA14', 'score': 11.46}, {'connected_gene': 'C1orf54', 'score': 10.84}, {'connected_gene': 'APH1A', 'score': 10.83}, {'connected_gene': 'PLEKHO1', 'score': 10.8}, {'connected_gene': 'MTMR11', 'score': 10.46}, {'connected_gene': 'HIST2H2BC', 'score': 9.99}, {'connected_gene': 'TARS2', 'score': 8.01}, {'connected_gene': 'RPRD2', 'score': 6.4}, {'connected_gene': 'MRPS21', 'score': 5.42}, {'connected_gene': 'GOLPH3L', 'score': 4.36}, {'connected_gene': 'HIST2H2AC', 'score': 1.94}, {'connected_gene': 'VPS45', 'score': 1.24}, {'connected_gene': 'RN7SL480P', 'score': 0.77}]
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}]