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
ENST00000372813	[[43570770, 43571854], [43572093, 43572220], [43577370, 43577518], [43580473, 43580643], [43583708, 43583861], [43585026, 43585126], [43588847, 43589127]]	[[43571749, 43571854], [43572093, 43572220], [43577370, 43577518], [43580473, 43580643], [43583708, 43583861], [43585026, 43585126], [43588847, 43588974]]
NM_006809	[[43570770, 43571854], [43572093, 43572220], [43577370, 43577518], [43580473, 43580643], [43583708, 43583861], [43585026, 43585126], [43588847, 43589114]]	[[43571749, 43571854], [43572093, 43572220], [43577370, 43577518], [43580473, 43580643], [43583708, 43583861], [43585026, 43585126], [43588847, 43588974]]

Promoter

Chrom	Start	End	Description
chr20	43588989	43589095	CAGE_peak_1_at_TOMM34_5end
chr20	43589109	43589118	CAGE_peak_2_at_TOMM34_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I043963	43963721	43965037	1.07	[{'connected_gene': 'TOX2', 'score': 11.12}, {'connected_gene': 'TOMM34', 'score': 4.21}, {'connected_gene': 'RN7SL443P', 'score': 0.26}]
chr20	GH20I044909	44909300	44912189	2.33	[{'connected_gene': 'PABPC1L', 'score': 561.43}, {'connected_gene': 'YWHAB', 'score': 33.71}, {'connected_gene': 'ENSG00000271984', 'score': 29.77}, {'connected_gene': 'ZSWIM1', 'score': 19.38}, {'connected_gene': 'SPATA25', 'score': 14.33}, {'connected_gene': 'TOMM34', 'score': 10.65}, {'connected_gene': 'STK4-AS1', 'score': 10.63}, {'connected_gene': 'STK4', 'score': 10.63}, {'connected_gene': 'DBNDD2', 'score': 1.57}, {'connected_gene': 'PIR52220', 'score': 0.34}]
chr20	GH20I044941	44941328	44941451	0.4	[{'connected_gene': 'PABPC1L', 'score': 11.42}, {'connected_gene': 'TP53TG5', 'score': 2.62}, {'connected_gene': 'RBPJL', 'score': 1.76}, {'connected_gene': 'STK4', 'score': 1.6}, {'connected_gene': 'PIR52220', 'score': 0.44}, {'connected_gene': 'TOMM34', 'score': 0.37}]
chr20	GH20I045024	45024090	45027186	0.38	[{'connected_gene': 'PABPC1L', 'score': 10.44}, {'connected_gene': 'WFDC5', 'score': 10.09}, {'connected_gene': 'STK4', 'score': 8.8}, {'connected_gene': 'TOMM34', 'score': 5.78}, {'connected_gene': 'ENSG00000252021', 'score': 0.34}, {'connected_gene': 'PIR48188', 'score': 0.23}]
chr20	GH20I044950	44950053	44951229	0.43	[{'connected_gene': 'PABPC1L', 'score': 11.59}, {'connected_gene': 'TOMM34', 'score': 0.44}, {'connected_gene': 'PIR52220', 'score': 0.37}]
chr20	GH20I044953	44953980	44954735	0.58	[{'connected_gene': 'PABPC1L', 'score': 10.82}, {'connected_gene': 'TOMM34', 'score': 0.44}, {'connected_gene': 'PIR52220', 'score': 0.34}]
chr20	GH20I044954	44954882	44954949	0.58	[{'connected_gene': 'PABPC1L', 'score': 10.82}, {'connected_gene': 'TOMM34', 'score': 0.44}, {'connected_gene': 'PIR52220', 'score': 0.34}]
chr20	GH20I044938	44938220	44939271	0.2	[{'connected_gene': 'PABPC1L', 'score': 17.75}, {'connected_gene': 'PIR52220', 'score': 0.44}, {'connected_gene': 'TOMM34', 'score': 0.34}]
chr20	GH20I044856	44856020	44857209	0.78	[{'connected_gene': 'YWHAB', 'score': 11.68}, {'connected_gene': 'KCNK15', 'score': 11.47}, {'connected_gene': 'KCNK15-AS1', 'score': 11.47}, {'connected_gene': 'ENSG00000132832', 'score': 10.83}, {'connected_gene': 'TOMM34', 'score': 6.58}, {'connected_gene': 'PGBD4P2', 'score': 0.39}, {'connected_gene': 'GC20M044881', 'score': 0.34}, {'connected_gene': 'GC20M044880', 'score': 0.34}]
chr20	GH20I044849	44849572	44852733	0.49	[{'connected_gene': 'YWHAB', 'score': 18.37}, {'connected_gene': 'RIMS4', 'score': 11.82}, {'connected_gene': 'KCNK15', 'score': 11.48}, {'connected_gene': 'KCNK15-AS1', 'score': 11.48}, {'connected_gene': 'ENSG00000132832', 'score': 10.84}, {'connected_gene': 'PABPC1L', 'score': 10.37}, {'connected_gene': 'TOMM34', 'score': 8.21}, {'connected_gene': 'PGBD4P2', 'score': 0.44}, {'connected_gene': 'GC20M044881', 'score': 0.31}, {'connected_gene': 'GC20M044880', 'score': 0.31}]
chr20	GH20I044965	44965174	44972677	2.58	[{'connected_gene': 'STK4', 'score': 575.1}, {'connected_gene': 'PCIF1', 'score': 24.39}, {'connected_gene': 'SYS1', 'score': 14.48}, {'connected_gene': 'ENSG00000271984', 'score': 12.46}, {'connected_gene': 'PABPC1L', 'score': 10.77}, {'connected_gene': 'DNTTIP1', 'score': 10.34}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'WFDC5', 'score': 7.35}, {'connected_gene': 'TOMM34', 'score': 6.2}, {'connected_gene': 'SERINC3', 'score': 4.71}, {'connected_gene': 'YWHAB', 'score': 1.84}, {'connected_gene': 'ADA', 'score': 1.18}, {'connected_gene': 'STK4-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}]
chr20	GH20I045014	45014084	45016797	1.03	[{'connected_gene': 'STK4', 'score': 20.21}, {'connected_gene': 'STK4-AS1', 'score': 11.97}, {'connected_gene': 'TOMM34', 'score': 11.96}, {'connected_gene': 'PABPC1L', 'score': 10.78}, {'connected_gene': 'KCNS1', 'score': 4.67}, {'connected_gene': 'ENSG00000252021', 'score': 0.39}, {'connected_gene': 'PIR48188', 'score': 0.21}]
chr20	GH20I045010	45010005	45012053	0.85	[{'connected_gene': 'STK4', 'score': 20.64}, {'connected_gene': 'STK4-AS1', 'score': 11.94}, {'connected_gene': 'TOMM34', 'score': 11.91}, {'connected_gene': 'PABPC1L', 'score': 10.79}, {'connected_gene': 'ENSG00000252021', 'score': 0.44}, {'connected_gene': 'PIR48188', 'score': 0.21}]
chr20	GH20I045012	45012092	45013689	0.63	[{'connected_gene': 'STK4', 'score': 18.81}, {'connected_gene': 'STK4-AS1', 'score': 11.93}, {'connected_gene': 'TOMM34', 'score': 11.91}, {'connected_gene': 'PABPC1L', 'score': 10.79}, {'connected_gene': 'ENSG00000252021', 'score': 0.44}, {'connected_gene': 'PIR48188', 'score': 0.21}]
chr20	GH20I044994	44994355	45003855	0.31	[{'connected_gene': 'STK4', 'score': 21.68}, {'connected_gene': 'STK4-AS1', 'score': 12.99}, {'connected_gene': 'TOMM34', 'score': 12.98}, {'connected_gene': 'JPH2', 'score': 5.35}, {'connected_gene': 'KCNS1', 'score': 4.66}, {'connected_gene': 'ENSG00000252021', 'score': 0.44}]
chr20	GH20I044989	44989647	44994200	1.09	[{'connected_gene': 'STK4', 'score': 21.64}, {'connected_gene': 'STK4-AS1', 'score': 13.01}, {'connected_gene': 'TOMM34', 'score': 12.99}, {'connected_gene': 'ENSG00000252021', 'score': 0.39}]
chr20	GH20I045933	45933164	45939495	2.34	[{'connected_gene': 'PCIF1', 'score': 562.62}, {'connected_gene': 'SNX21', 'score': 27.86}, {'connected_gene': 'NCOA5', 'score': 27.62}, {'connected_gene': 'TP53RK', 'score': 27.46}, {'connected_gene': 'SPATA25', 'score': 25.61}, {'connected_gene': 'ZNF335', 'score': 23.89}, {'connected_gene': 'PLTP', 'score': 23.26}, {'connected_gene': 'SLC35C2', 'score': 22.54}, {'connected_gene': 'WFDC3', 'score': 17.33}, {'connected_gene': 'ENSG00000271984', 'score': 13.62}, {'connected_gene': 'ACOT8', 'score': 11.88}, {'connected_gene': 'ZSWIM3', 'score': 11.88}, {'connected_gene': 'CTSA', 'score': 11.58}, {'connected_gene': 'NEURL2', 'score': 11.58}, {'connected_gene': 'ZSWIM1', 'score': 11.35}, {'connected_gene': 'TNNC2', 'score': 11.28}, {'connected_gene': 'UBE2C', 'score': 11.11}, {'connected_gene': 'DNTTIP1', 'score': 10.41}, {'connected_gene': 'CD40', 'score': 10.38}, {'connected_gene': 'SLC12A5', 'score': 10.06}, {'connected_gene': 'SLC12A5-AS1', 'score': 10.06}, {'connected_gene': 'TOMM34', 'score': 4.54}]
chr20	GH20I045027	45027977	45032036	0.43	[{'connected_gene': 'WFDC5', 'score': 10.68}, {'connected_gene': 'PABPC1L', 'score': 10.44}, {'connected_gene': 'STK4', 'score': 8.85}, {'connected_gene': 'TOMM34', 'score': 5.78}, {'connected_gene': 'YWHAB', 'score': 4.57}, {'connected_gene': 'ENSG00000252021', 'score': 0.31}, {'connected_gene': 'PIR48188', 'score': 0.25}]
chr20	GH20I044955	44955657	44956557	0.58	[{'connected_gene': 'TOMM34', 'score': 0.77}, {'connected_gene': 'PIR52220', 'score': 0.34}, {'connected_gene': 'PABPC1L', 'score': 0.25}]
chr20	GH20I044958	44958666	44961552	2.25	[{'connected_gene': 'TOMM34', 'score': 589.57}, {'connected_gene': 'PABPC1L', 'score': 5.82}, {'connected_gene': 'PIR52220', 'score': 0.31}]
chr20	GH20I044984	44984014	44988080	0.38	[{'connected_gene': 'TOMM34', 'score': 17.63}, {'connected_gene': 'STK4', 'score': 9.11}, {'connected_gene': 'ENSG00000252021', 'score': 0.37}]
chr20	GH20I044805	44805399	44807346	0.76	[{'connected_gene': 'TOMM34', 'score': 5.7}, {'connected_gene': 'WFDC3', 'score': 4.2}, {'connected_gene': 'RIMS4', 'score': 0.77}, {'connected_gene': 'PIR49731', 'score': 0.23}]
chr20	GH20I044961	44961660	44962290	0.66	[{'connected_gene': 'TOMM34', 'score': 550.77}, {'connected_gene': 'STK4-AS1', 'score': 0.77}]
chr20	GH20I045005	45005801	45007620	0.31	[{'connected_gene': 'STK4-AS1', 'score': 11.94}, {'connected_gene': 'STK4', 'score': 11.94}, {'connected_gene': 'TOMM34', 'score': 11.93}, {'connected_gene': 'PABPC1L', 'score': 10.79}, {'connected_gene': 'WFDC5', 'score': 10.1}, {'connected_gene': 'ENSG00000252021', 'score': 0.77}, {'connected_gene': 'PIR48188', 'score': 0.2}]