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
ENST00000396913	[[13319795, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13341419, 13341763]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336541]]
ENST00000263038	[[13319799, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342101]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342042]]
ENST00000396920	[[13319842, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333824, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340241], [13343985, 13344412]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333824, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340241], [13343985, 13344007]]
ENST00000453759	[[13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341419, 13341549]]	[[13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336541]]
ENST00000479604	[[13330411, 13330541], [13333824, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342052]]	[[13330411, 13330541], [13333824, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342042]]
ENST00000464049	[[13333460, 13333912], [13336427, 13336987]]	None
ENST00000463730	[[13337227, 13337606], [13340186, 13340245], [13341967, 13342097]]	None
NM_001323080	[[13319795, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341419, 13341746]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336541]]
NM_001323084	[[13319795, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333824, 13333912], [13336427, 13336596], [13337495, 13337606], [13341419, 13341746]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333824, 13333912], [13336427, 13336541]]
NM_001037537	[[13319795, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13341419, 13341746]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336541]]
NM_001323082	[[13319795, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333824, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342130]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333824, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342042]]
NM_006214	[[13319795, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342130]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13330359, 13330541], [13333830, 13333912], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342042]]
NM_001323083	[[13319795, 13320354], [13322975, 13323110], [13325689, 13325839], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342130]]	[[13320300, 13320354], [13322975, 13323110], [13325689, 13325839], [13336427, 13336596], [13337495, 13337606], [13340186, 13340245], [13341967, 13342042]]

Promoter

Chrom	Start	End	Description
chr10	13342051	13342071	CAGE_peak_1_at_PHYH_5end
chr10	13342083	13342094	CAGE_peak_5_at_PHYH_5end
chr10	13342097	13342116	CAGE_peak_2_at_PHYH_5end
chr10	13344341	13344371	CAGE_peak_3_at_PHYH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I013219	13219974	13220267	0.72	[{'connected_gene': 'PHYH', 'score': 25.95}, {'connected_gene': 'RNU6-6P', 'score': 0.77}, {'connected_gene': 'UCMA', 'score': 0.39}, {'connected_gene': 'GC10P013202', 'score': 0.37}]
chr10	GH10I013298	13298864	13303161	2.29	[{'connected_gene': 'PHYH', 'score': 583.25}, {'connected_gene': 'SEPHS1', 'score': 10.95}, {'connected_gene': 'ENSG00000239665', 'score': 9.86}, {'connected_gene': 'GC10P013293', 'score': 0.44}]
chr10	GH10I013346	13345201	13345400	0.4	[{'connected_gene': 'PHYH', 'score': 10.58}, {'connected_gene': 'SEPHS1', 'score': 0.77}, {'connected_gene': 'PIR32930', 'score': 0.37}, {'connected_gene': 'GC10M013327', 'score': 0.37}]
chr10	GH10I013337	13337509	13341397	0.89	[{'connected_gene': 'PHYH', 'score': 26.27}, {'connected_gene': 'SEPHS1', 'score': 0.44}, {'connected_gene': 'PIR32930', 'score': 0.39}, {'connected_gene': 'GC10M013327', 'score': 0.39}]
chr10	GH10I013329	13329400	13330747	0.38	[{'connected_gene': 'PHYH', 'score': 22.47}, {'connected_gene': 'PIR32930', 'score': 0.77}, {'connected_gene': 'GC10M013327', 'score': 0.77}, {'connected_gene': 'SEPHS1', 'score': 0.37}]
chr10	GH10I013328	13328626	13328968	0.38	[{'connected_gene': 'PHYH', 'score': 22.94}, {'connected_gene': 'PIR32930', 'score': 0.77}, {'connected_gene': 'GC10M013327', 'score': 0.77}, {'connected_gene': 'SEPHS1', 'score': 0.37}]
chr10	GH10I013364	13364960	13365675	0.2	[{'connected_gene': 'PHYH', 'score': 5.34}, {'connected_gene': 'GC10P013355', 'score': 0.39}, {'connected_gene': 'PIR45625', 'score': 0.39}, {'connected_gene': 'LOC105376419', 'score': 0.37}]
chr10	GH10I013345	13345521	13352810	2.74	[{'connected_gene': 'SEPHS1', 'score': 556.79}, {'connected_gene': 'PHYH', 'score': 25.28}, {'connected_gene': 'BTBD7P1', 'score': 22.9}, {'connected_gene': 'PRPF18', 'score': 19.52}, {'connected_gene': 'GC10P013355', 'score': 0.77}, {'connected_gene': 'PIR45625', 'score': 0.77}]
chr10	GH10I013270	13270469	13273140	1.1	[{'connected_gene': 'ENSG00000273474', 'score': 13.61}, {'connected_gene': 'PRPF18', 'score': 10.77}, {'connected_gene': 'PHYH', 'score': 8.48}, {'connected_gene': 'GC10P013279', 'score': 0.44}, {'connected_gene': 'UCMA', 'score': 0.28}]
chr10	GH10I013283	13283381	13283550	0.83	[{'connected_gene': 'GC10P013279', 'score': 0.77}, {'connected_gene': 'GC10P013293', 'score': 0.39}, {'connected_gene': 'PHYH', 'score': 0.37}]
chr10	GH10I013651	13651118	13654882	0.2	[{'connected_gene': 'ENSG00000239665', 'score': 14.26}, {'connected_gene': 'RNA5SP301', 'score': 10.87}, {'connected_gene': 'ENSG00000234091', 'score': 10.86}, {'connected_gene': 'PRPF18', 'score': 6.06}, {'connected_gene': 'PHYH', 'score': 5.83}, {'connected_gene': 'GC10M013636', 'score': 0.39}, {'connected_gene': 'ENSG00000273474', 'score': 0.34}, {'connected_gene': 'LOC101928524', 'score': 0.34}, {'connected_gene': 'ENSG00000282246', 'score': 0.26}, {'connected_gene': 'GC10P013601', 'score': 0.23}, {'connected_gene': 'GC10P013600', 'score': 0.23}, {'connected_gene': 'FRMD4A', 'score': 0.03}]