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
ENST00000350028	[[44351300, 44351478], [44359165, 44359276], [44360331, 44360433], [44364610, 44364698], [44368115, 44368222], [44368750, 44368881], [44369115, 44369203], [44371934, 44372063], [44372629, 44372701], [44373751, 44373838], [44377270, 44377341], [44379812, 44379880], [44384990, 44385137], [44386144, 44386286], [44392217, 44392413]]	[[44351457, 44351478], [44359165, 44359276], [44360331, 44360433], [44364610, 44364698], [44368115, 44368222], [44368750, 44368881], [44369115, 44369203], [44371934, 44372063], [44372629, 44372701], [44373751, 44373838], [44377270, 44377341], [44379812, 44379880], [44384990, 44385137], [44386144, 44386286], [44392217, 44392263]]
ENST00000493161	[[44351321, 44351478], [44358949, 44359106], [44360331, 44360433], [44364610, 44364698], [44368115, 44368222], [44368750, 44368881], [44369115, 44369202]]	None
ENST00000396202	[[44351425, 44351478], [44359165, 44359276], [44360331, 44360433], [44364610, 44364698], [44368795, 44368881], [44369115, 44369203], [44371934, 44372063], [44372629, 44372701], [44373751, 44373838], [44377270, 44377341], [44379812, 44379880], [44384990, 44385137], [44386144, 44386286], [44392217, 44392405]]	[[44369185, 44369203], [44371934, 44372063], [44372629, 44372701], [44373751, 44373838], [44377270, 44377341], [44379812, 44379880], [44384990, 44385137], [44386144, 44386286], [44392217, 44392263]]
ENST00000474323	[[44370474, 44372063], [44372629, 44372701], [44373751, 44373838], [44377270, 44377341], [44379812, 44379880], [44384990, 44385137], [44386144, 44386286], [44392217, 44392409]]	None
ENST00000494795	[[44382223, 44385137], [44386144, 44386286], [44392217, 44392409]]	None
ENST00000465768	[[44386207, 44386286], [44405356, 44405406], [44406371, 44406411]]	None
ENST00000493621	[[44391270, 44391370], [44392073, 44392256]]	None
NM_015380	[[44351260, 44351478], [44359165, 44359276], [44360331, 44360433], [44364610, 44364698], [44368115, 44368222], [44368750, 44368881], [44369115, 44369203], [44371934, 44372063], [44372629, 44372701], [44373751, 44373838], [44377270, 44377341], [44379812, 44379880], [44384990, 44385137], [44386144, 44386286], [44392217, 44392412]]	[[44351457, 44351478], [44359165, 44359276], [44360331, 44360433], [44364610, 44364698], [44368115, 44368222], [44368750, 44368881], [44369115, 44369203], [44371934, 44372063], [44372629, 44372701], [44373751, 44373838], [44377270, 44377341], [44379812, 44379880], [44384990, 44385137], [44386144, 44386286], [44392217, 44392263]]

Promoter

Chrom	Start	End	Description
chr22	44351304	44351330	CAGE_peak_2_at_SAMM50_5end
chr22	44351331	44351332	CAGE_peak_4_at_SAMM50_5end
chr22	44351338	44351418	CAGE_peak_1_at_SAMM50_5end
chr22	44351419	44351435	CAGE_peak_3_at_SAMM50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I044150	44150247	44151558	0.2	[{'connected_gene': 'TRU-TCA2-1', 'score': 550.77}, {'connected_gene': 'RPL35AP36', 'score': 10.45}, {'connected_gene': 'SAMM50', 'score': 10.45}, {'connected_gene': 'ENSG00000220702', 'score': 10.42}, {'connected_gene': 'ENSG00000280434', 'score': 0.39}, {'connected_gene': 'PARVG', 'score': 0.37}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22	GH22I043867	43867921	43868110	0.81	[{'connected_gene': 'EFCAB6', 'score': 19.21}, {'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'PNPLA3', 'score': 10.94}, {'connected_gene': 'SAMM50', 'score': 10.34}, {'connected_gene': 'RPL35AP36', 'score': 10.34}, {'connected_gene': 'SHISAL1', 'score': 9.46}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22	GH22I044171	44171545	44174600	1.45	[{'connected_gene': 'PARVG', 'score': 557.48}, {'connected_gene': 'SAMM50', 'score': 5.31}, {'connected_gene': 'ENSG00000279933', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.09}]
chr22	GH22I044179	44179898	44183577	1.8	[{'connected_gene': 'PARVG', 'score': 558.06}, {'connected_gene': 'SAMM50', 'score': 5.28}, {'connected_gene': 'ENSG00000279933', 'score': 0.44}]
chr22	GH22I044608	44608278	44610127	0.46	[{'connected_gene': 'PRR5', 'score': 11.5}, {'connected_gene': 'SHISAL1', 'score': 10.33}, {'connected_gene': 'ENSG00000220702', 'score': 10.04}, {'connected_gene': 'SAMM50', 'score': 9.39}, {'connected_gene': 'RPL35AP36', 'score': 9.39}, {'connected_gene': 'LOC105373060', 'score': 0.39}, {'connected_gene': 'LINC00229', 'score': 0.37}, {'connected_gene': 'LINC00207', 'score': 0.28}]
chr22	GH22I043919	43919401	43919990	0.6	[{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22	GH22I043920	43920654	43922521	0.69	[{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.86}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22	GH22I043915	43915121	43916311	0.54	[{'connected_gene': 'SULT4A1', 'score': 11.66}, {'connected_gene': 'PNPLA5', 'score': 11.09}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.82}, {'connected_gene': 'PNPLA3', 'score': 0.44}]
chr22	GH22I043945	43945961	43946150	0.69	[{'connected_gene': 'SAMM50', 'score': 8.81}, {'connected_gene': 'GC22M043953', 'score': 0.44}, {'connected_gene': 'PNPLA3', 'score': 0.34}]
chr22	GH22I043985	43985152	43985974	0.78	[{'connected_gene': 'SAMM50', 'score': 19.3}, {'connected_gene': 'RPL35AP36', 'score': 12.25}, {'connected_gene': 'PNPLA3', 'score': 5.08}, {'connected_gene': 'PIR60090', 'score': 0.39}, {'connected_gene': 'GC22P043958', 'score': 0.31}]
chr22	GH22I043954	43954073	43957314	2.03	[{'connected_gene': 'SAMM50', 'score': 581.38}, {'connected_gene': 'GC22P043958', 'score': 550.77}, {'connected_gene': 'GC22M043953', 'score': 550.77}, {'connected_gene': 'RPL35AP36', 'score': 550.77}, {'connected_gene': 'PNPLA3', 'score': 0.29}]
chr22	GH22I044081	44081281	44081570	0.86	[{'connected_gene': 'SAMM50', 'score': 11.55}, {'connected_gene': 'RPL35AP36', 'score': 10.54}, {'connected_gene': 'ENSG00000279175', 'score': 0.34}, {'connected_gene': 'GC22M044040', 'score': 0.26}, {'connected_gene': 'PARVB', 'score': 0.18}]
chr22	GH22I043992	43992196	43992959	0.43	[{'connected_gene': 'SAMM50', 'score': 20.19}, {'connected_gene': 'RPL35AP36', 'score': 11.17}, {'connected_gene': 'PIR60090', 'score': 0.44}, {'connected_gene': 'GC22P043958', 'score': 0.28}]
chr22	GH22I043995	43995472	43997190	0.8	[{'connected_gene': 'SAMM50', 'score': 29.57}, {'connected_gene': 'PIR60090', 'score': 0.77}, {'connected_gene': 'GC22P043958', 'score': 0.28}]
chr22	GH22I044154	44154484	44154710	0.94	[{'connected_gene': 'PHF21B', 'score': 11.17}, {'connected_gene': 'ENSG00000261251', 'score': 10.97}, {'connected_gene': 'PARVG', 'score': 10.73}, {'connected_gene': 'SAMM50', 'score': 9.99}, {'connected_gene': 'RPL35AP36', 'score': 9.99}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.77}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22	GH22I044005	44005401	44005902	0.51	[{'connected_gene': 'RPL35AP36', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 11.04}, {'connected_gene': 'PARVB', 'score': 0.44}, {'connected_gene': 'GC22M044040', 'score': 0.28}]
chr22	GH22I043999	43999172	43999231	0.5	[{'connected_gene': 'PIR60090', 'score': 550.77}, {'connected_gene': 'PARVB', 'score': 550.77}, {'connected_gene': 'SAMM50', 'score': 0.26}]
chr22	GH22I043994	43993261	43993430	0.63	[{'connected_gene': 'PIR60090', 'score': 0.44}, {'connected_gene': 'GC22P043958', 'score': 0.28}, {'connected_gene': 'SAMM50', 'score': 0.28}]
chr22	GH22I043970	43970009	43970764	0.56	[{'connected_gene': 'GC22P043958', 'score': 0.39}, {'connected_gene': 'SAMM50', 'score': 0.37}, {'connected_gene': 'PIR60090', 'score': 0.31}]
chr22	GH22I043993	43993221	43993230	0.57	[{'connected_gene': 'PIR60090', 'score': 0.44}, {'connected_gene': 'GC22P043958', 'score': 0.28}, {'connected_gene': 'SAMM50', 'score': 0.28}]
chr22	GH22I044020	44020622	44022799	1.45	[{'connected_gene': 'ENSG00000261251', 'score': 37.63}, {'connected_gene': 'LOC100506679', 'score': 11.79}, {'connected_gene': 'SAMM50', 'score': 11.75}, {'connected_gene': 'RPL35AP36', 'score': 11.13}, {'connected_gene': 'RTL6', 'score': 11.1}, {'connected_gene': 'SHISAL1', 'score': 10.76}, {'connected_gene': 'PHF21B', 'score': 10.54}, {'connected_gene': 'TTLL1', 'score': 10.44}, {'connected_gene': 'PARVB', 'score': 8.81}, {'connected_gene': 'GC22M044040', 'score': 0.37}]