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
ENST00000532277	[[82611016, 82611195], [82612496, 82612864], [82624328, 82624428], [82625764, 82625893], [82639818, 82639931]]	[[82625780, 82625893], [82639818, 82639931]]
ENST00000524921	[[82612739, 82612864], [82624328, 82624428], [82625764, 82625893], [82639818, 82639980], [82642773, 82642864]]	[[82625780, 82625893], [82639818, 82639980], [82642773, 82642861]]
ENST00000430323	[[82612739, 82612864], [82624328, 82624428], [82624998, 82625212], [82625764, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82645377]]	[[82625780, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82645377]]
ENST00000528759	[[82612739, 82612864], [82624328, 82624428], [82625764, 82625893], [82642773, 82645697]]	[[82625780, 82625893], [82642773, 82642861]]
ENST00000525361	[[82612739, 82612864], [82624328, 82624428], [82624998, 82625212], [82625764, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82642891], [82668455, 82669319]]	[[82625780, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82642891], [82668455, 82668481]]
ENST00000533655	[[82612768, 82612864], [82624328, 82624428], [82625764, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82645701]]	[[82625780, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82645377]]
ENST00000532764	[[82612771, 82612864], [82624328, 82624428], [82624696, 82624788], [82624998, 82625073], [82625764, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82642874]]	[[82624696, 82624788], [82624998, 82625073], [82625764, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82642874]]
ENST00000532589	[[82612777, 82612864], [82625764, 82625893], [82639818, 82639933]]	[[82625780, 82625893], [82639818, 82639933]]
ENST00000528189	[[82612777, 82612864], [82624328, 82624428], [82625764, 82625893], [82639818, 82639984]]	None
ENST00000525388	[[82612783, 82612864], [82624324, 82624428], [82625764, 82625893], [82639818, 82639980], [82642773, 82643258]]	[[82625780, 82625893], [82639818, 82639980], [82642773, 82642861]]
ENST00000528262	[[82620299, 82620373], [82624328, 82624428], [82625764, 82625893], [82639818, 82639980], [82641198, 82641293]]	[[82625780, 82625893], [82639818, 82639980], [82641198, 82641293]]
ENST00000329143	[[82625730, 82625893], [82642773, 82645697]]	[[82643283, 82645377]]
ENST00000533750	[[82633655, 82633724], [82639818, 82639980], [82641198, 82641316], [82642773, 82642998]]	None
NM_145018	[[82612736, 82612864], [82624328, 82624428], [82625764, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82645701]]	[[82625780, 82625893], [82639818, 82639980], [82641198, 82641316], [82642773, 82645377]]

Promoter

Chrom	Start	End	Description
chr11	82612763	82612808	CAGE_peak_1_at_C11orf82_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I082838	82838787	82840445	0.2	[{'connected_gene': 'PRCP', 'score': 15.46}, {'connected_gene': 'FAM181B', 'score': 11.07}, {'connected_gene': 'DDIAS', 'score': 10.89}, {'connected_gene': 'ENSG00000254441', 'score': 0.77}, {'connected_gene': 'LOC105369413', 'score': 0.22}]
chr11	GH11I082922	82922631	82923410	0.51	[{'connected_gene': 'PRCP', 'score': 25.96}, {'connected_gene': 'DDIAS', 'score': 12.28}, {'connected_gene': 'RAB30', 'score': 11.01}, {'connected_gene': 'RAB30-AS1', 'score': 11.01}, {'connected_gene': 'RPL7AP54', 'score': 0.29}]
chr11	GH11I083054	83054679	83055895	0.86	[{'connected_gene': 'PRCP', 'score': 10.24}, {'connected_gene': 'DDIAS', 'score': 10.17}, {'connected_gene': 'RAB30', 'score': 9.98}, {'connected_gene': 'RAB30-AS1', 'score': 7.35}, {'connected_gene': 'SNORA70E', 'score': 0.39}, {'connected_gene': 'GC11M083042', 'score': 0.39}]
chr11	GH11I082969	82969322	82970425	0.96	[{'connected_gene': 'PRCP', 'score': 556.19}, {'connected_gene': 'DDIAS', 'score': 17.03}, {'connected_gene': 'RAB30', 'score': 11.4}, {'connected_gene': 'ENSG00000254698', 'score': 10.18}, {'connected_gene': 'SNORA70E', 'score': 10.17}, {'connected_gene': 'ENSG00000254522', 'score': 10.17}, {'connected_gene': 'ENSG00000242279', 'score': 0.39}]
chr11	GH11I082840	82840561	82844378	0.57	[{'connected_gene': 'PRCP', 'score': 24.86}, {'connected_gene': 'DDIAS', 'score': 23.93}, {'connected_gene': 'FAM181B', 'score': 11.07}, {'connected_gene': 'ENSG00000254441', 'score': 0.44}, {'connected_gene': 'LOC105369413', 'score': 0.21}]
chr11	GH11I082844	82844666	82846668	0.49	[{'connected_gene': 'PRCP', 'score': 14.06}, {'connected_gene': 'DDIAS', 'score': 12.55}, {'connected_gene': 'ENSG00000254441', 'score': 0.39}, {'connected_gene': 'LOC105369413', 'score': 0.21}]
chr11	GH11I083050	83050794	83054607	1.22	[{'connected_gene': 'PRCP', 'score': 10.24}, {'connected_gene': 'DDIAS', 'score': 10.17}, {'connected_gene': 'RAB30-AS1', 'score': 8.92}, {'connected_gene': 'RAB30', 'score': 8.92}, {'connected_gene': 'SNORA70E', 'score': 0.39}, {'connected_gene': 'GC11M083042', 'score': 0.39}]
chr11	GH11I082971	82971302	82972477	1.12	[{'connected_gene': 'PRCP', 'score': 550.77}, {'connected_gene': 'DDIAS', 'score': 16.8}, {'connected_gene': 'RAB30-AS1', 'score': 5.22}, {'connected_gene': 'GC11M082975', 'score': 0.44}, {'connected_gene': 'ENSG00000254698', 'score': 0.2}]
chr11	GH11I082895	82895359	82896400	0.94	[{'connected_gene': 'PRCP', 'score': 13.96}, {'connected_gene': 'DDIAS', 'score': 7.54}, {'connected_gene': 'ENSG00000254441', 'score': 0.21}]
chr11	GH11I083006	83006608	83009024	1.42	[{'connected_gene': 'PCF11', 'score': 15.49}, {'connected_gene': 'DDIAS', 'score': 13.78}, {'connected_gene': 'ENSG00000254551', 'score': 12.11}, {'connected_gene': 'ENSG00000254676', 'score': 11.83}, {'connected_gene': 'ENSG00000254698', 'score': 11.76}, {'connected_gene': 'SNORA70E', 'score': 11.76}, {'connected_gene': 'ENSG00000254522', 'score': 11.76}, {'connected_gene': 'RAB30', 'score': 11.68}, {'connected_gene': 'RAB30-AS1', 'score': 11.34}, {'connected_gene': 'GC11M082975', 'score': 0.29}]
chr11	GH11I083176	83176954	83178039	0.43	[{'connected_gene': 'PCF11', 'score': 11.29}, {'connected_gene': 'RAB30-AS1', 'score': 10.7}, {'connected_gene': 'RAB30', 'score': 10.7}, {'connected_gene': 'PRCP', 'score': 10.69}, {'connected_gene': 'DDIAS', 'score': 10.67}, {'connected_gene': 'CCDC90B', 'score': 10.64}, {'connected_gene': 'ENSG00000255234', 'score': 10.64}, {'connected_gene': 'ENSG00000254698', 'score': 9.42}, {'connected_gene': 'SNORA70E', 'score': 9.42}, {'connected_gene': 'ENSG00000254522', 'score': 9.42}, {'connected_gene': 'ENSG00000254676', 'score': 0.77}, {'connected_gene': 'GC11P083158', 'score': 0.37}]
chr11	GH11I083033	83033115	83036955	1.68	[{'connected_gene': 'RAB30', 'score': 559.95}, {'connected_gene': 'DDIAS', 'score': 14.15}, {'connected_gene': 'RAB30-AS1', 'score': 9.52}, {'connected_gene': 'PRCP', 'score': 8.98}, {'connected_gene': 'ENSG00000254698', 'score': 0.77}, {'connected_gene': 'GC11M082975', 'score': 0.22}]
chr11	GH11I082906	82906801	82907786	0.58	[{'connected_gene': 'RAB30', 'score': 10.55}, {'connected_gene': 'RAB30-AS1', 'score': 10.55}, {'connected_gene': 'PRCP', 'score': 10.28}, {'connected_gene': 'DDIAS', 'score': 0.44}, {'connected_gene': 'RPL7AP54', 'score': 0.23}]
chr11	GH11I082919	82919661	82921163	1.09	[{'connected_gene': 'RAB30', 'score': 11.01}, {'connected_gene': 'RAB30-AS1', 'score': 11.01}, {'connected_gene': 'DDIAS', 'score': 0.34}, {'connected_gene': 'RPL7AP54', 'score': 0.28}, {'connected_gene': 'PRCP', 'score': 0.23}]
chr11	GH11I082907	82906319	82906448	0.77	[{'connected_gene': 'RAB30', 'score': 10.55}, {'connected_gene': 'RAB30-AS1', 'score': 10.55}, {'connected_gene': 'DDIAS', 'score': 0.44}, {'connected_gene': 'RPL7AP54', 'score': 0.23}, {'connected_gene': 'PRCP', 'score': 0.21}]
chr11	GH11I082993	82993850	82998174	1.21	[{'connected_gene': 'RAB30', 'score': 22.14}, {'connected_gene': 'RAB30-AS1', 'score': 20.09}, {'connected_gene': 'ENSG00000254698', 'score': 11.32}, {'connected_gene': 'SNORA70E', 'score': 11.31}, {'connected_gene': 'ENSG00000254522', 'score': 11.31}, {'connected_gene': 'PRCP', 'score': 10.87}, {'connected_gene': 'DDIAS', 'score': 10.71}, {'connected_gene': 'GC11M082975', 'score': 0.37}]
chr11	GH11I082899	82899054	82902856	2.51	[{'connected_gene': 'DDIAS', 'score': 575.46}, {'connected_gene': 'PRCP', 'score': 564.08}, {'connected_gene': 'PCF11', 'score': 44.45}, {'connected_gene': 'ENSG00000254676', 'score': 23.31}, {'connected_gene': 'ENSG00000254551', 'score': 21.45}, {'connected_gene': 'ANKRD42', 'score': 2.53}, {'connected_gene': 'RAB30', 'score': 1.95}, {'connected_gene': 'RPL7AP54', 'score': 0.22}]
chr11	GH11I082927	82927379	82927548	0.87	[{'connected_gene': 'DDIAS', 'score': 20.32}, {'connected_gene': 'PRCP', 'score': 12.2}, {'connected_gene': 'RAB30', 'score': 10.99}, {'connected_gene': 'RAB30-AS1', 'score': 10.99}, {'connected_gene': 'RPL7AP54', 'score': 0.31}]
chr11	GH11I082888	82888919	82892200	1.06	[{'connected_gene': 'DDIAS', 'score': 23.03}, {'connected_gene': 'PRCP', 'score': 12.5}, {'connected_gene': 'RAB30', 'score': 10.56}, {'connected_gene': 'RAB30-AS1', 'score': 10.56}, {'connected_gene': 'ENSG00000254441', 'score': 0.22}]
chr11	GH11I082871	82871779	82871928	0.38	[{'connected_gene': 'DDIAS', 'score': 11.75}, {'connected_gene': 'PRCP', 'score': 11.59}, {'connected_gene': 'RAB30', 'score': 9.97}, {'connected_gene': 'ENSG00000254441', 'score': 0.28}]
chr11	GH11I082867	82867119	82868000	1.08	[{'connected_gene': 'DDIAS', 'score': 18.91}, {'connected_gene': 'PRCP', 'score': 18.9}, {'connected_gene': 'FAM181B', 'score': 11.23}, {'connected_gene': 'ENSG00000255234', 'score': 10.27}, {'connected_gene': 'CCDC90B', 'score': 10.27}, {'connected_gene': 'RAB30', 'score': 9.97}, {'connected_gene': 'ENSG00000254441', 'score': 0.29}]
chr11	GH11I082860	82860467	82861784	0.31	[{'connected_gene': 'DDIAS', 'score': 15.77}, {'connected_gene': 'PRCP', 'score': 15.74}, {'connected_gene': 'FAM181B', 'score': 11.63}, {'connected_gene': 'ENSG00000254441', 'score': 0.31}]
chr11	GH11I083060	83060873	83067349	1.24	[{'connected_gene': 'DDIAS', 'score': 12.93}, {'connected_gene': 'PCF11', 'score': 11.14}, {'connected_gene': 'RAB30', 'score': 10.16}, {'connected_gene': 'RAB30-AS1', 'score': 9.73}, {'connected_gene': 'SNORA70E', 'score': 0.34}, {'connected_gene': 'GC11M083042', 'score': 0.34}]
chr11	GH11I082977	82977965	82981517	1.15	[{'connected_gene': 'DDIAS', 'score': 15.78}, {'connected_gene': 'RAB30', 'score': 8.19}, {'connected_gene': 'RAB30-AS1', 'score': 6.25}, {'connected_gene': 'PRCP', 'score': 5.67}, {'connected_gene': 'GC11M082975', 'score': 0.77}, {'connected_gene': 'ENSG00000254698', 'score': 0.22}]
chr11	GH11I082914	82914307	82914366	0.5	[{'connected_gene': 'DDIAS', 'score': 550.39}, {'connected_gene': 'RAB30', 'score': 10.33}, {'connected_gene': 'RAB30-AS1', 'score': 10.33}, {'connected_gene': 'RPL7AP54', 'score': 0.26}, {'connected_gene': 'PRCP', 'score': 0.22}]
chr11	GH11I083000	83000086	83000698	0.51	[{'connected_gene': 'DDIAS', 'score': 14.31}, {'connected_gene': 'RAB30', 'score': 11.13}, {'connected_gene': 'RAB30-AS1', 'score': 11.13}, {'connected_gene': 'ENSG00000254698', 'score': 10.98}, {'connected_gene': 'SNORA70E', 'score': 10.97}, {'connected_gene': 'ENSG00000254522', 'score': 10.97}, {'connected_gene': 'GC11M082975', 'score': 0.34}]
chr11	GH11I082857	82857266	82860217	1	[{'connected_gene': 'DDIAS', 'score': 16.73}, {'connected_gene': 'FAM181B', 'score': 11.19}, {'connected_gene': 'PRCP', 'score': 10.52}, {'connected_gene': 'ENSG00000254441', 'score': 0.34}]
chr11	GH11I082863	82863879	82865028	1.17	[{'connected_gene': 'DDIAS', 'score': 28.65}, {'connected_gene': 'FAM181B', 'score': 11.62}, {'connected_gene': 'PRCP', 'score': 11.29}, {'connected_gene': 'ENSG00000254441', 'score': 0.31}]
chr11	GH11I083032	83031486	83032861	0.31	[{'connected_gene': 'DDIAS', 'score': 14.1}, {'connected_gene': 'RAB30-AS1', 'score': 9.53}, {'connected_gene': 'PRCP', 'score': 8.55}, {'connected_gene': 'ENSG00000254698', 'score': 0.44}, {'connected_gene': 'RAB30', 'score': 0.28}, {'connected_gene': 'GC11M082975', 'score': 0.23}]
chr11	GH11I082959	82959424	82961558	1.09	[{'connected_gene': 'DDIAS', 'score': 20.71}, {'connected_gene': 'RAB30-AS1', 'score': 17.18}, {'connected_gene': 'RAB30', 'score': 10.82}, {'connected_gene': 'ENSG00000254698', 'score': 9.49}, {'connected_gene': 'SNORA70E', 'score': 9.48}, {'connected_gene': 'ENSG00000254522', 'score': 9.48}, {'connected_gene': 'PRCP', 'score': 8.39}, {'connected_gene': 'ENSG00000242279', 'score': 0.77}]
chr11	GH11I083002	83002633	83002760	0.4	[{'connected_gene': 'DDIAS', 'score': 16.44}, {'connected_gene': 'ENSG00000254698', 'score': 11.74}, {'connected_gene': 'SNORA70E', 'score': 11.74}, {'connected_gene': 'ENSG00000254522', 'score': 11.74}, {'connected_gene': 'RAB30', 'score': 11.67}, {'connected_gene': 'RAB30-AS1', 'score': 11.01}, {'connected_gene': 'GC11M082975', 'score': 0.31}]
chr11	GH11I083191	83191562	83195888	2.24	[{'connected_gene': 'LOC100506282', 'score': 550.77}, {'connected_gene': 'ANKRD42', 'score': 550.77}, {'connected_gene': 'DDIAS', 'score': 10.67}, {'connected_gene': 'PCF11-AS1', 'score': 0.44}]
chr11	GH11I082991	82991691	82993607	0.56	[{'connected_gene': 'RAB30-AS1', 'score': 11.15}, {'connected_gene': 'RAB30', 'score': 11.15}, {'connected_gene': 'ENSG00000254698', 'score': 10.44}, {'connected_gene': 'SNORA70E', 'score': 10.44}, {'connected_gene': 'ENSG00000254522', 'score': 10.44}, {'connected_gene': 'PRCP', 'score': 10.44}, {'connected_gene': 'DDIAS', 'score': 10.26}, {'connected_gene': 'GC11M082975', 'score': 0.37}]
chr11	GH11I082988	82988155	82990083	1.1	[{'connected_gene': 'RAB30-AS1', 'score': 17.39}, {'connected_gene': 'RAB30', 'score': 11.14}, {'connected_gene': 'ENSG00000254698', 'score': 10.76}, {'connected_gene': 'SNORA70E', 'score': 10.74}, {'connected_gene': 'ENSG00000254522', 'score': 10.74}, {'connected_gene': 'DDIAS', 'score': 10.26}, {'connected_gene': 'GC11M082975', 'score': 0.39}]
chr11	GH11I082883	82883082	82884672	0.83	[{'connected_gene': 'RAB30-AS1', 'score': 4.11}, {'connected_gene': 'DDIAS', 'score': 0.37}, {'connected_gene': 'ENSG00000254441', 'score': 0.25}, {'connected_gene': 'PRCP', 'score': 0.17}]
chr11	GH11I083014	83014364	83017413	0.43	[{'connected_gene': 'RAB30-AS1', 'score': 17.99}, {'connected_gene': 'DDIAS', 'score': 14.43}, {'connected_gene': 'ENSG00000254698', 'score': 11.56}, {'connected_gene': 'SNORA70E', 'score': 11.54}, {'connected_gene': 'ENSG00000254522', 'score': 11.54}, {'connected_gene': 'RAB30', 'score': 11.45}, {'connected_gene': 'GC11M082975', 'score': 0.28}]
chr11	GH11I083249	83249978	83250359	0.56	[{'connected_gene': 'GC11M083248', 'score': 550.77}, {'connected_gene': 'ENSG00000255234', 'score': 12.07}, {'connected_gene': 'PRCP', 'score': 10.62}, {'connected_gene': 'DDIAS', 'score': 10.61}, {'connected_gene': 'RAB30-AS1', 'score': 10.21}, {'connected_gene': 'RAB30', 'score': 10.21}, {'connected_gene': 'GC11M083251', 'score': 0.77}, {'connected_gene': 'ANKRD42', 'score': 0.22}]
chr11	GH11I083179	83179889	83183584	0.31	[{'connected_gene': 'ENSG00000254676', 'score': 550.77}, {'connected_gene': 'PCF11', 'score': 11.84}, {'connected_gene': 'RAB30-AS1', 'score': 10.72}, {'connected_gene': 'RAB30', 'score': 10.72}, {'connected_gene': 'PRCP', 'score': 10.68}, {'connected_gene': 'DDIAS', 'score': 10.67}, {'connected_gene': 'CCDC90B', 'score': 10.64}, {'connected_gene': 'ENSG00000255234', 'score': 10.64}, {'connected_gene': 'PCF11-AS1', 'score': 0.44}]
chr11	GH11I082955	82955384	82956887	0.96	[{'connected_gene': 'ENSG00000242279', 'score': 550.77}, {'connected_gene': 'RPL7AP54', 'score': 550.77}, {'connected_gene': 'DDIAS', 'score': 17.44}, {'connected_gene': 'RAB30-AS1', 'score': 10.48}, {'connected_gene': 'RAB30', 'score': 10.48}, {'connected_gene': 'ENSG00000254698', 'score': 10.06}, {'connected_gene': 'SNORA70E', 'score': 10.05}, {'connected_gene': 'ENSG00000254522', 'score': 10.05}, {'connected_gene': 'PRCP', 'score': 8.4}]