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

Promoter

Chrom	Start	End	Description
chr18	20513281	20513306	CAGE_peak_2_at_RBBP8_5end
chr18	20513782	20513859	CAGE_peak_1_at_RBBP8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I023224	23224199	23232776	1.7	[{'connected_gene': 'CABLES1', 'score': 11.34}, {'connected_gene': 'TMEM241', 'score': 7.56}, {'connected_gene': 'NPC1', 'score': 7.28}, {'connected_gene': 'RMC1', 'score': 5.34}, {'connected_gene': 'RBBP8', 'score': 5.08}, {'connected_gene': 'PIR48090', 'score': 0.44}, {'connected_gene': 'GC18M023230', 'score': 0.39}]
chr18	GH18I023271	23271087	23271217	0.24	[{'connected_gene': 'CABLES1', 'score': 10.69}, {'connected_gene': 'RBBP8', 'score': 6.5}, {'connected_gene': 'NPC1', 'score': 4.91}, {'connected_gene': 'RMC1', 'score': 2.02}, {'connected_gene': 'ENSG00000266495', 'score': 0.39}, {'connected_gene': 'TMEM241', 'score': 0.1}]
chr18	GH18I022055	22055579	22058498	0.87	[{'connected_gene': 'RBBP8', 'score': 9.91}, {'connected_gene': 'ABHD3', 'score': 6.82}, {'connected_gene': 'GREB1L', 'score': 4.43}, {'connected_gene': 'SNRPD1', 'score': 4.03}, {'connected_gene': 'GC18P022048', 'score': 0.44}, {'connected_gene': 'ENSG00000263588', 'score': 0.29}]
chr18	GH18I022977	22977261	22979286	0.97	[{'connected_gene': 'RBBP8', 'score': 11.9}, {'connected_gene': 'RN7SL745P', 'score': 0.31}, {'connected_gene': 'ENSG00000265943', 'score': 0.26}]
chr18	GH18I022936	22936001	22936400	0.2	[{'connected_gene': 'RBBP8', 'score': 7.93}, {'connected_gene': 'LOC101927571', 'score': 7.88}, {'connected_gene': 'ENSG00000265943', 'score': 0.77}, {'connected_gene': 'RN7SL745P', 'score': 0.2}]
chr18	GH18I022855	22855600	22859000	0.51	[{'connected_gene': 'RBBP8', 'score': 19.1}, {'connected_gene': 'LOC101927571', 'score': 8.26}, {'connected_gene': 'PIR41681', 'score': 0.31}, {'connected_gene': 'ENSG00000273232', 'score': 0.31}, {'connected_gene': 'ENSG00000265943', 'score': 0.18}]
chr18	GH18I022722	22722711	22725034	0.51	[{'connected_gene': 'RBBP8', 'score': 4.41}, {'connected_gene': 'GC18P022670', 'score': 0.23}, {'connected_gene': 'PIR60003', 'score': 0.21}, {'connected_gene': 'LOC101927571', 'score': 0.09}, {'connected_gene': 'ENSG00000265943', 'score': 0.08}]
chr18	GH18I022726	22726903	22729468	0.58	[{'connected_gene': 'RBBP8', 'score': 4.4}, {'connected_gene': 'PIR60003', 'score': 0.22}, {'connected_gene': 'GC18P022670', 'score': 0.22}, {'connected_gene': 'LOC101927571', 'score': 0.1}, {'connected_gene': 'ENSG00000265943', 'score': 0.08}]
chr18	GH18I022821	22821658	22823199	0.96	[{'connected_gene': 'RBBP8', 'score': 6.1}, {'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'LOC101927571', 'score': 0.17}, {'connected_gene': 'ENSG00000265943', 'score': 0.14}]
chr18	GH18I022798	22798178	22801284	0.88	[{'connected_gene': 'RBBP8', 'score': 557.71}, {'connected_gene': 'PIR41681', 'score': 0.31}, {'connected_gene': 'LOC101927571', 'score': 0.14}, {'connected_gene': 'ENSG00000265943', 'score': 0.12}]
chr18	GH18I022932	22932490	22935800	2.23	[{'connected_gene': 'RBBP8', 'score': 558.71}, {'connected_gene': 'ENSG00000265943', 'score': 550.77}, {'connected_gene': 'MIR4741', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 17.08}, {'connected_gene': 'LOC101927571', 'score': 12.1}, {'connected_gene': 'RN7SL745P', 'score': 0.19}]
chr18	GH18I022163	22163305	22199675	3.14	[{'connected_gene': 'GATA6', 'score': 559.78}, {'connected_gene': 'RNU6-702P', 'score': 550.77}, {'connected_gene': 'GC18M022181', 'score': 550.77}, {'connected_gene': 'ESCO1', 'score': 25.37}, {'connected_gene': 'RBBP8', 'score': 12.07}, {'connected_gene': 'MIB1', 'score': 11.2}, {'connected_gene': 'SNRPD1', 'score': 10.26}, {'connected_gene': 'LOC105372019', 'score': 5.69}, {'connected_gene': 'ENSG00000264012', 'score': 0.77}, {'connected_gene': 'GATA6-AS1', 'score': 0.39}, {'connected_gene': 'GC18M022162', 'score': 0.37}, {'connected_gene': 'ENSG00000266283', 'score': 0.34}]
chr18	GH18I023420	23420874	23424141	1.45	[{'connected_gene': 'NPC1', 'score': 14.29}, {'connected_gene': 'RMC1', 'score': 13.39}, {'connected_gene': 'RIOK3', 'score': 12.03}, {'connected_gene': 'CABLES1', 'score': 10.72}, {'connected_gene': 'RBBP8', 'score': 4.49}, {'connected_gene': 'TMEM241', 'score': 0.37}, {'connected_gene': 'ENSG00000266495', 'score': 0.1}]
chr18	GH18I022489	22489358	22495420	1.59	[{'connected_gene': 'ESCO1', 'score': 39.65}, {'connected_gene': 'MIB1', 'score': 23.6}, {'connected_gene': 'SNRPD1', 'score': 19.56}, {'connected_gene': 'RBBP8', 'score': 9.83}, {'connected_gene': 'MIR133A1HG', 'score': 4.12}, {'connected_gene': 'GC18P022454', 'score': 0.28}, {'connected_gene': 'RPS4XP18', 'score': 0.16}]
chr18	GH18I022912	22912376	22917097	0.98	[{'connected_gene': 'LOC101927571', 'score': 12.23}, {'connected_gene': 'RBBP8', 'score': 7.28}, {'connected_gene': 'GC18M022908', 'score': 0.77}, {'connected_gene': 'GC18M022924', 'score': 0.39}, {'connected_gene': 'ENSG00000265943', 'score': 0.37}]
chr18	GH18I022846	22846029	22849336	0.74	[{'connected_gene': 'LOC101927571', 'score': 11.53}, {'connected_gene': 'RBBP8', 'score': 7.34}, {'connected_gene': 'PIR41681', 'score': 0.34}, {'connected_gene': 'ENSG00000273232', 'score': 0.28}, {'connected_gene': 'ENSG00000265943', 'score': 0.17}]
chr18	GH18I022829	22829855	22830587	0.4	[{'connected_gene': 'LOC101927571', 'score': 8.3}, {'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'RBBP8', 'score': 0.29}, {'connected_gene': 'ENSG00000273232', 'score': 0.23}, {'connected_gene': 'ENSG00000265943', 'score': 0.15}]
chr18	GH18I023037	23037718	23037867	0.31	[{'connected_gene': 'LOC101927571', 'score': 8.45}, {'connected_gene': 'RBBP8', 'score': 6.72}, {'connected_gene': 'ENSG00000223023', 'score': 0.39}, {'connected_gene': 'GC18M023066', 'score': 0.18}]
chr18	GH18I022831	22831100	22832177	1.35	[{'connected_gene': 'LOC101927571', 'score': 8.3}, {'connected_gene': 'RBBP8', 'score': 3.51}, {'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'ENSG00000273232', 'score': 0.23}, {'connected_gene': 'ENSG00000265943', 'score': 0.15}]
chr18	GH18I022816	22816437	22818719	0.93	[{'connected_gene': 'LOC101927571', 'score': 8.24}, {'connected_gene': 'RBBP8', 'score': 7.4}, {'connected_gene': 'PIR41681', 'score': 0.44}, {'connected_gene': 'ENSG00000265943', 'score': 0.13}]
chr18	GH18I022813	22813680	22814974	0.84	[{'connected_gene': 'LOC101927571', 'score': 8.17}, {'connected_gene': 'RBBP8', 'score': 7.31}, {'connected_gene': 'PIR41681', 'score': 0.39}, {'connected_gene': 'ENSG00000265943', 'score': 0.13}]
chr18	GH18I023031	23031402	23033501	0.77	[{'connected_gene': 'LOC101927571', 'score': 8.22}, {'connected_gene': 'RBBP8', 'score': 8.18}, {'connected_gene': 'ENSG00000223023', 'score': 0.44}, {'connected_gene': 'GC18M023066', 'score': 0.18}]
chr18	GH18I022871	22871813	22873954	0.92	[{'connected_gene': 'LOC101927571', 'score': 11.61}, {'connected_gene': 'ENSG00000273232', 'score': 0.39}, {'connected_gene': 'PIR41681', 'score': 0.25}, {'connected_gene': 'ENSG00000265943', 'score': 0.21}, {'connected_gene': 'RBBP8', 'score': 0.19}]
chr18	GH18I022843	22843330	22845572	0.58	[{'connected_gene': 'LOC101927571', 'score': 8.34}, {'connected_gene': 'PIR41681', 'score': 0.37}, {'connected_gene': 'ENSG00000273232', 'score': 0.28}, {'connected_gene': 'RBBP8', 'score': 0.25}, {'connected_gene': 'ENSG00000265943', 'score': 0.17}]
chr18	GH18I022930	22930198	22930407	0.59	[{'connected_gene': 'LOC101927571', 'score': 8.37}, {'connected_gene': 'ENSG00000265943', 'score': 0.77}, {'connected_gene': 'MIR4741', 'score': 0.77}, {'connected_gene': 'GC18M022924', 'score': 0.77}, {'connected_gene': 'RBBP8', 'score': 0.12}]
chr18	GH18I022838	22838601	22840292	0.96	[{'connected_gene': 'PIR41681', 'score': 0.39}, {'connected_gene': 'RBBP8', 'score': 0.26}, {'connected_gene': 'ENSG00000273232', 'score': 0.26}, {'connected_gene': 'LOC101927571', 'score': 0.2}, {'connected_gene': 'ENSG00000265943', 'score': 0.16}]
chr18	GH18I022825	22825004	22825536	0.2	[{'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'RBBP8', 'score': 0.31}, {'connected_gene': 'LOC101927571', 'score': 0.18}, {'connected_gene': 'ENSG00000265943', 'score': 0.14}]
chr18	GH18I022826	22825540	22828660	0.99	[{'connected_gene': 'PIR41681', 'score': 550.77}, {'connected_gene': 'LOC101927571', 'score': 8.29}, {'connected_gene': 'RBBP8', 'score': 0.31}, {'connected_gene': 'ENSG00000265943', 'score': 0.14}]
chr18	GH18I022868	22868031	22869534	0.4	[{'connected_gene': 'ENSG00000273232', 'score': 0.39}, {'connected_gene': 'LOC101927571', 'score': 0.28}, {'connected_gene': 'PIR41681', 'score': 0.26}, {'connected_gene': 'ENSG00000265943', 'score': 0.21}, {'connected_gene': 'RBBP8', 'score': 0.19}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000583700	[[20378223, 20378450], [20491562, 20491648], [20495382, 20495448], [20509345, 20509400], [20516716, 20516846]]	[[20516814, 20516846]]
ENST00000327155	[[20513277, 20513527], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606449]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
ENST00000399722	[[20513788, 20514041], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606451]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
ENST00000399725	[[20513803, 20514122], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606449]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606210]]
ENST00000360790	[[20514712, 20514737], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581533, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606333]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581533, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
ENST00000583057	[[20573446, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20596790, 20596887], [20602091, 20602233], [20606105, 20606430]]	[[20573446, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20596790, 20596887], [20602091, 20602233], [20606105, 20606210]]
ENST00000579124	[[20494083, 20494269], [20495382, 20495448], [20516716, 20516923], [20526406, 20526449], [20529580, 20529621]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529621]]
ENST00000577588	[[20494085, 20494269], [20495382, 20495448], [20496903, 20496989], [20509345, 20509400], [20516716, 20516903]]	[[20516814, 20516903]]
ENST00000582354	[[20494085, 20494269], [20495382, 20495448], [20509345, 20509400], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564860]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564860]]
ENST00000581819	[[20494101, 20494269], [20509345, 20509400], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548773]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548773]]
ENST00000399721	[[20513838, 20514227], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573532]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573532]]
ENST00000583594	[[20513843, 20514122], [20516716, 20516923], [20517022, 20517081]]	[[20516814, 20516923], [20517022, 20517081]]
ENST00000580892	[[20526301, 20526449], [20529580, 20529998]]	None
ENST00000577445	[[20548804, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569234, 20569281], [20570899, 20570907]]	[[20548804, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569234, 20569281], [20570899, 20570907]]
ENST00000585177	[[20555143, 20555182], [20557752, 20557850], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20570989]]	[[20555143, 20555182]]
ENST00000581687	[[20596758, 20596887], [20602091, 20602233], [20606105, 20606451]]	[[20602103, 20602233], [20606105, 20606203]]
NM_002894	[[20513294, 20513527], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606449]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
NM_203291	[[20513838, 20514041], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606449]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
NM_203292	[[20513838, 20514122], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606449]]	[[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606210]]