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
ENST00000372201	[[45265896, 45266345], [45266511, 45266619], [45266707, 45266824], [45267293, 45267423], [45267516, 45267604], [45268431, 45268527], [45268626, 45268825], [45268939, 45269063], [45269271, 45269363], [45269602, 45269696], [45269834, 45269918], [45270010, 45270173], [45270321, 45270451], [45270937, 45271051], [45271158, 45271662]]	[[45266135, 45266345], [45266511, 45266619], [45266707, 45266824], [45267293, 45267423], [45267516, 45267604], [45268431, 45268527], [45268626, 45268825], [45268939, 45269063], [45269271, 45269363], [45269602, 45269696], [45269834, 45269918], [45270010, 45270173], [45270321, 45270451], [45270937, 45271051], [45271158, 45271350]]
ENST00000465443	[[45266059, 45266345], [45266511, 45266619], [45266707, 45266824], [45267293, 45267423], [45267516, 45267604], [45268431, 45268527], [45268626, 45268825], [45268939, 45269063], [45269271, 45269363], [45269602, 45269696], [45269834, 45269918], [45270010, 45270451], [45270937, 45271051], [45271158, 45271662]]	None
ENST00000476731	[[45267305, 45267423], [45267516, 45267604], [45268431, 45268527], [45268626, 45269063], [45269271, 45269293]]	None
ENST00000492398	[[45268939, 45269063], [45269271, 45269363], [45269602, 45269696], [45269834, 45269918], [45270010, 45270173], [45270937, 45271051], [45271158, 45271622]]	None
ENST00000461358	[[45269008, 45269063], [45269271, 45269696], [45269834, 45269918], [45270010, 45270173], [45270321, 45270361]]	None
ENST00000461769	[[45269889, 45269918], [45270010, 45270173], [45270321, 45270793]]	None
ENST00000493100	[[45270292, 45271051], [45271158, 45271272]]	None
NM_004073	[[45265896, 45266345], [45266511, 45266619], [45266707, 45266824], [45267293, 45267423], [45267516, 45267604], [45268431, 45268527], [45268626, 45268825], [45268939, 45269063], [45269271, 45269363], [45269602, 45269696], [45269834, 45269918], [45270010, 45270173], [45270321, 45270451], [45270937, 45271051], [45271158, 45271667]]	[[45266135, 45266345], [45266511, 45266619], [45266707, 45266824], [45267293, 45267423], [45267516, 45267604], [45268431, 45268527], [45268626, 45268825], [45268939, 45269063], [45269271, 45269363], [45269602, 45269696], [45269834, 45269918], [45270010, 45270173], [45270321, 45270451], [45270937, 45271051], [45271158, 45271350]]

Promoter

Chrom	Start	End	Description
chr1	45266040	45266056	CAGE_peak_1_at_PLK3_5end
chr1	45268985	45269002	CAGE_peak_6_at_PLK3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I044831	44830001	44830200	0.43	[{'connected_gene': 'GPBP1L1', 'score': 15.96}, {'connected_gene': 'RPL7AP16', 'score': 14.59}, {'connected_gene': 'TOE1', 'score': 13.66}, {'connected_gene': 'TCTEX1D4', 'score': 12.89}, {'connected_gene': 'BTBD19', 'score': 12.89}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'BEST4', 'score': 11.68}, {'connected_gene': 'RPS15AP10', 'score': 11.4}, {'connected_gene': 'RNU5D-1', 'score': 11.1}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'MUTYH', 'score': 9.84}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}, {'connected_gene': 'PTCH2', 'score': 0.39}]
chr1	GH01I044483	44483749	44486921	1.68	[{'connected_gene': 'DMAP1', 'score': 18.45}, {'connected_gene': 'RNF220', 'score': 15.43}, {'connected_gene': 'ZSWIM5', 'score': 14.36}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'RNU6-369P', 'score': 10.94}, {'connected_gene': 'ARTN', 'score': 10.87}, {'connected_gene': 'ERI3', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'MUTYH', 'score': 9.91}, {'connected_gene': 'PLK3', 'score': 5.57}, {'connected_gene': 'ATP6V0B', 'score': 4.18}, {'connected_gene': 'BTBD19', 'score': 3.61}, {'connected_gene': 'SLC6A9', 'score': 3.19}, {'connected_gene': 'TCTEX1D4', 'score': 2.55}, {'connected_gene': 'MIR5584', 'score': 0.21}]
chr1	GH01I044796	44796601	44797201	1.05	[{'connected_gene': 'MUTYH', 'score': 21.33}, {'connected_gene': 'RPS8', 'score': 13.12}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'DMAP1', 'score': 11.65}, {'connected_gene': 'BEST4', 'score': 11.48}, {'connected_gene': 'PLK3', 'score': 0.77}]
chr1	GH01I044858	44858075	44858092	0.22	[{'connected_gene': 'TCTEX1D4', 'score': 10.86}, {'connected_gene': 'BTBD19', 'score': 10.86}, {'connected_gene': 'PLK3', 'score': 10.85}, {'connected_gene': 'EIF2B3', 'score': 10.29}, {'connected_gene': 'PPIAP35', 'score': 10.28}, {'connected_gene': 'ENSG00000226499', 'score': 0.39}, {'connected_gene': 'RNA5SP47', 'score': 0.19}]
chr1	GH01I044834	44834201	44834400	0.56	[{'connected_gene': 'TCTEX1D4', 'score': 12.87}, {'connected_gene': 'BTBD19', 'score': 12.87}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'UROD', 'score': 11.89}, {'connected_gene': 'BEST4', 'score': 11.67}, {'connected_gene': 'RNU5D-1', 'score': 11.09}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'PTCH2', 'score': 0.44}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}]
chr1	GH01I044830	44830383	44831810	0.76	[{'connected_gene': 'TCTEX1D4', 'score': 12.89}, {'connected_gene': 'BTBD19', 'score': 12.89}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'RPS8', 'score': 12.81}, {'connected_gene': 'BEST4', 'score': 11.68}, {'connected_gene': 'RNU5D-1', 'score': 11.1}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'UROD', 'score': 8.02}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}, {'connected_gene': 'PTCH2', 'score': 0.39}]
chr1	GH01I044860	44860549	44861098	0.2	[{'connected_gene': 'TCTEX1D4', 'score': 10.86}, {'connected_gene': 'BTBD19', 'score': 10.86}, {'connected_gene': 'PLK3', 'score': 10.84}, {'connected_gene': 'PPIAP35', 'score': 10.29}, {'connected_gene': 'EIF2B3', 'score': 10.29}, {'connected_gene': 'ENSG00000226499', 'score': 0.37}, {'connected_gene': 'RNA5SP47', 'score': 0.19}]
chr1	GH01I044792	44792929	44794200	1.08	[{'connected_gene': 'BEST4', 'score': 562.1}, {'connected_gene': 'TESK2', 'score': 10.76}, {'connected_gene': 'NASP', 'score': 10.55}, {'connected_gene': 'UROD', 'score': 8.03}, {'connected_gene': 'PLK3', 'score': 0.44}]
chr1	GH01I044924	44924191	44927251	0.84	[{'connected_gene': 'BTBD19', 'score': 15.71}, {'connected_gene': 'UROD', 'score': 12.05}, {'connected_gene': 'PPIAP35', 'score': 10.99}, {'connected_gene': 'EIF2B3', 'score': 10.99}, {'connected_gene': 'BEST4', 'score': 10.9}, {'connected_gene': 'ENSG00000226499', 'score': 10.88}, {'connected_gene': 'PTCH2', 'score': 10.88}, {'connected_gene': 'PLK3', 'score': 10.07}, {'connected_gene': 'TCTEX1D4', 'score': 10.07}, {'connected_gene': 'RNA5SP47', 'score': 0.44}]
chr1	GH01I044805	44805080	44815821	2.32	[{'connected_gene': 'BTBD19', 'score': 559.74}, {'connected_gene': 'TOE1', 'score': 47.18}, {'connected_gene': 'GPBP1L1', 'score': 40.2}, {'connected_gene': 'RPS8', 'score': 35.1}, {'connected_gene': 'HECTD3', 'score': 28.96}, {'connected_gene': 'MUTYH', 'score': 24.73}, {'connected_gene': 'RPL7AP16', 'score': 23.95}, {'connected_gene': 'RPS15AP10', 'score': 21.41}, {'connected_gene': 'ENSG00000225721', 'score': 15.78}, {'connected_gene': 'UROD', 'score': 12.58}, {'connected_gene': 'BEST4', 'score': 11.84}, {'connected_gene': 'SNORD46', 'score': 11.26}, {'connected_gene': 'SNORD38A', 'score': 11.26}, {'connected_gene': 'ARTN', 'score': 10.78}, {'connected_gene': 'NASP', 'score': 9.96}, {'connected_gene': 'DPH2', 'score': 6.25}, {'connected_gene': 'CCDC163', 'score': 4.95}, {'connected_gene': 'MMACHC', 'score': 3.87}, {'connected_gene': 'TCTEX1D4', 'score': 0.77}, {'connected_gene': 'RNU5E-6P', 'score': 0.44}, {'connected_gene': 'PLK3', 'score': 0.39}]
chr1	GH01I044798	44798676	44804932	2.32	[{'connected_gene': 'PLK3', 'score': 550.77}, {'connected_gene': 'RPS8', 'score': 21.65}, {'connected_gene': 'TOE1', 'score': 12.51}, {'connected_gene': 'GPBP1L1', 'score': 11.96}, {'connected_gene': 'BEST4', 'score': 11.25}, {'connected_gene': 'ZSWIM5', 'score': 10.86}, {'connected_gene': 'HECTD3', 'score': 9.72}, {'connected_gene': 'ARTN', 'score': 9.71}, {'connected_gene': 'BTBD19', 'score': 9.21}, {'connected_gene': 'UROD', 'score': 8.61}, {'connected_gene': 'MMACHC', 'score': 3.85}, {'connected_gene': 'TCTEX1D4', 'score': 0.44}]
chr1	GH01I045272	45272493	45273982	0.93	[{'connected_gene': 'PLK3', 'score': 12.82}, {'connected_gene': 'ZSWIM5', 'score': 9.37}, {'connected_gene': 'TCTEX1D4', 'score': 7.46}, {'connected_gene': 'IPP', 'score': 5.97}, {'connected_gene': 'BEST4', 'score': 5.06}, {'connected_gene': 'BTBD19', 'score': 2.54}, {'connected_gene': 'LOC105378691', 'score': 0.29}, {'connected_gene': 'GC01P045223', 'score': 0.23}]
chr1	GH01I045270	45270608	45270815	0.22	[{'connected_gene': 'PLK3', 'score': 11.41}, {'connected_gene': 'TCTEX1D4', 'score': 5.25}, {'connected_gene': 'IPP', 'score': 4.87}, {'connected_gene': 'BTBD19', 'score': 2.82}, {'connected_gene': 'LOC105378691', 'score': 0.29}, {'connected_gene': 'ZSWIM5', 'score': 0.28}, {'connected_gene': 'GC01P045223', 'score': 0.25}]
chr1	GH01I044746	44746364	44746423	0.5	[{'connected_gene': 'KIF2C', 'score': 550.44}, {'connected_gene': 'ENSG00000225721', 'score': 11.98}, {'connected_gene': 'RPS8', 'score': 11.98}, {'connected_gene': 'SNORD46', 'score': 11.96}, {'connected_gene': 'SNORD38A', 'score': 11.96}, {'connected_gene': 'RNU5F-1', 'score': 11.38}, {'connected_gene': 'PLK3', 'score': 11.27}, {'connected_gene': 'TCTEX1D4', 'score': 11.25}, {'connected_gene': 'BTBD19', 'score': 11.25}, {'connected_gene': 'C1orf228', 'score': 11.24}, {'connected_gene': 'BEST4', 'score': 11.16}]