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
ENST00000523149	[[28480245, 28480327], [28570973, 28571052], [28574755, 28575724], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28608420]]	[[28571025, 28571052], [28574755, 28575724], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28608383]]
ENST00000220562	[[28558843, 28559176], [28570973, 28571067], [28573101, 28575724], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28611204]]	[[28573576, 28575724], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28608383]]
ENST00000519886	[[28559121, 28559176], [28570973, 28571067], [28573101, 28573583], [28610177, 28610349]]	None
ENST00000521532	[[28567874, 28568020], [28588739, 28588867], [28595035, 28595180], [28600602, 28600700]]	[[28567978, 28568020], [28588739, 28588867], [28595035, 28595180], [28600602, 28600700]]
ENST00000522725	[[28457985, 28458231], [28465207, 28465275], [28535602, 28535710], [28570973, 28571067], [28573101, 28573133]]	None
ENST00000519288	[[28480277, 28480327], [28494818, 28494946], [28570973, 28571067], [28573101, 28573303]]	None
ENST00000520940	[[28488922, 28489191], [28494853, 28494946], [28543402, 28543525], [28570973, 28571030]]	None
ENST00000454906	[[28488948, 28489067], [28557046, 28557346], [28570973, 28571067], [28573101, 28573127]]	None
ENST00000518223	[[28567871, 28568020], [28570973, 28571067], [28573101, 28573420]]	None
ENST00000522698	[[28574201, 28574414], [28588739, 28588867], [28595035, 28595180], [28600602, 28600681]]	[[28574201, 28574414], [28588739, 28588753]]
ENST00000521473	[[28575576, 28575724], [28588739, 28588867], [28595035, 28595180], [28608173, 28608353]]	[[28575576, 28575724], [28588739, 28588867], [28595035, 28595180], [28608173, 28608353]]
ENST00000517738	[[28587676, 28587735], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28608241]]	[[28588853, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28608241]]
ENST00000523271	[[28597417, 28600731], [28608173, 28613116]]	None
ENST00000520679	[[28601492, 28601600], [28608173, 28608611]]	None
NR_073468	[[28558989, 28559176], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28611207]]	None
NR_073469	[[28558989, 28559176], [28570973, 28571067], [28573101, 28573583], [28610177, 28611207]]	None
NM_001440	[[28558989, 28559176], [28570973, 28571067], [28573101, 28575724], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28611207]]	[[28573576, 28575724], [28588739, 28588867], [28595035, 28595180], [28600602, 28600731], [28608173, 28608383]]

Promoter

Chrom	Start	End	Description
chr8	28480246	28480307	CAGE_peak_3_at_EXTL3_5end
chr8	28559004	28559039	CAGE_peak_1_at_EXTL3_5end
chr8	28559064	28559075	CAGE_peak_5_at_EXTL3_5end
chr8	28559082	28559093	CAGE_peak_4_at_EXTL3_5end
chr8	28559094	28559146	CAGE_peak_2_at_EXTL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I028513	28513350	28514513	1.02	[{'connected_gene': 'FZD3', 'score': 15.68}, {'connected_gene': 'EXTL3', 'score': 11.25}, {'connected_gene': 'MIR4288', 'score': 0.44}, {'connected_gene': 'GC08P028531', 'score': 0.37}]
chr8	GH08I028589	28589304	28589453	0.49	[{'connected_gene': 'FZD3', 'score': 11.92}, {'connected_gene': 'EXTL3', 'score': 0.39}, {'connected_gene': 'PIR36324', 'score': 0.23}]
chr8	GH08I028346	28346174	28354097	1.21	[{'connected_gene': 'FZD3', 'score': 16.5}, {'connected_gene': 'FBXO16', 'score': 10.61}, {'connected_gene': 'EXTL3', 'score': 9.97}, {'connected_gene': 'NUGGC', 'score': 9.84}, {'connected_gene': 'PNOC', 'score': 9.7}, {'connected_gene': 'PIR39512', 'score': 0.77}, {'connected_gene': 'PIR48760', 'score': 0.77}, {'connected_gene': 'ZNF395', 'score': 0.23}]
chr8	GH08I028561	28561904	28562053	0.75	[{'connected_gene': 'FZD3', 'score': 11.34}, {'connected_gene': 'FBXO16', 'score': 11.33}, {'connected_gene': 'EXTL3', 'score': 11.32}, {'connected_gene': 'PIR36324', 'score': 0.34}]
chr8	GH08I028594	28594064	28594233	0.72	[{'connected_gene': 'FZD3', 'score': 10.94}, {'connected_gene': 'INTS9-AS1', 'score': 9.83}, {'connected_gene': 'INTS9', 'score': 9.81}, {'connected_gene': 'EXTL3', 'score': 0.44}, {'connected_gene': 'PIR36324', 'score': 0.22}]
chr8	GH08I028355	28355644	28355833	0.8	[{'connected_gene': 'ZNF395', 'score': 11.15}, {'connected_gene': 'FZD3', 'score': 10.62}, {'connected_gene': 'FBXO16', 'score': 10.61}, {'connected_gene': 'EXTL3', 'score': 10.17}, {'connected_gene': 'PNOC', 'score': 9.65}, {'connected_gene': 'NUGGC', 'score': 9.47}, {'connected_gene': 'PIR39512', 'score': 0.44}]
chr8	GH08I028657	28657202	28658905	1.17	[{'connected_gene': 'INTS9', 'score': 11.37}, {'connected_gene': 'FZD3', 'score': 10.05}, {'connected_gene': 'CCDC25', 'score': 9.97}, {'connected_gene': 'ELP3', 'score': 9.87}, {'connected_gene': 'GC08P028669', 'score': 0.44}, {'connected_gene': 'LOC105379345', 'score': 0.28}, {'connected_gene': 'EXTL3', 'score': 0.22}]
chr8	GH08I028607	28607624	28609897	0.76	[{'connected_gene': 'SCARA3', 'score': 5.16}, {'connected_gene': 'EXTL3', 'score': 0.44}, {'connected_gene': 'LOC105379344', 'score': 0.44}, {'connected_gene': 'LOC105379345', 'score': 0.39}]
chr8	GH08I028659	28659382	28660467	0.66	[{'connected_gene': 'EXTL3', 'score': 10.55}, {'connected_gene': 'INTS9-AS1', 'score': 10.02}, {'connected_gene': 'INTS9', 'score': 9.97}, {'connected_gene': 'FZD3', 'score': 4.16}, {'connected_gene': 'GC08P028669', 'score': 0.44}, {'connected_gene': 'LOC105379345', 'score': 0.28}]
chr8	GH08I028774	28774585	28780203	0.93	[{'connected_gene': 'EXTL3', 'score': 11.96}, {'connected_gene': 'INTS9-AS1', 'score': 11.72}, {'connected_gene': 'INTS9', 'score': 11.51}, {'connected_gene': 'EXTL3-AS1', 'score': 4.82}, {'connected_gene': 'KIF13B', 'score': 3.54}, {'connected_gene': 'PIR53077', 'score': 0.34}]
chr8	GH08I028737	28737564	28737673	0.65	[{'connected_gene': 'EXTL3', 'score': 11.25}, {'connected_gene': 'INTS9-AS1', 'score': 10.83}, {'connected_gene': 'INTS9', 'score': 10.73}, {'connected_gene': 'PIR53077', 'score': 0.37}, {'connected_gene': 'PIR55838', 'score': 0.34}]
chr8	GH08I028611	28611068	28612273	0.2	[{'connected_gene': 'EXTL3', 'score': 5.57}, {'connected_gene': 'LOC105379345', 'score': 0.39}, {'connected_gene': 'LOC105379344', 'score': 0.39}]
chr8	GH08I028633	28633729	28634200	0.76	[{'connected_gene': 'EXTL3', 'score': 5.58}, {'connected_gene': 'LOC105379345', 'score': 0.39}, {'connected_gene': 'GC08P028669', 'score': 0.29}]
chr8	GH08I028630	28630266	28631902	0.6	[{'connected_gene': 'EXTL3', 'score': 9.07}, {'connected_gene': 'LOC105379345', 'score': 0.44}, {'connected_gene': 'GC08P028669', 'score': 0.28}]
chr8	GH08I028600	28600299	28602043	0.94	[{'connected_gene': 'EXTL3', 'score': 550.77}, {'connected_gene': 'LOC105379344', 'score': 550.77}, {'connected_gene': 'HMBOX1', 'score': 4.73}, {'connected_gene': 'LOC105379345', 'score': 0.34}]
chr8	GH08I028711	28711274	28714953	1.26	[{'connected_gene': 'EXTL3', 'score': 17.71}, {'connected_gene': 'EXTL3-AS1', 'score': 11.51}, {'connected_gene': 'INTS9-AS1', 'score': 10.65}, {'connected_gene': 'INTS9', 'score': 10.58}, {'connected_gene': 'FZD3', 'score': 1.73}, {'connected_gene': 'ZNF395', 'score': 1.24}, {'connected_gene': 'PIR55838', 'score': 0.77}]
chr8	GH08I028704	28704690	28705922	0.96	[{'connected_gene': 'EXTL3', 'score': 3.66}, {'connected_gene': 'EXTL3-AS1', 'score': 0.77}, {'connected_gene': 'PIR55838', 'score': 0.39}]
chr8	GH08I028710	28710680	28710912	0.38	[{'connected_gene': 'EXTL3', 'score': 10.25}, {'connected_gene': 'PIR55838', 'score': 0.44}, {'connected_gene': 'EXTL3-AS1', 'score': 0.44}]
chr8	GH08I028707	28707202	28710514	1.36	[{'connected_gene': 'EXTL3', 'score': 18.39}, {'connected_gene': 'PIR55838', 'score': 0.44}, {'connected_gene': 'EXTL3-AS1', 'score': 0.44}]
chr8	GH08I028617	28617000	28617273	0.66	[{'connected_gene': 'FBXO16', 'score': 11.2}, {'connected_gene': 'FZD3', 'score': 11.2}, {'connected_gene': 'INTS9-AS1', 'score': 9.63}, {'connected_gene': 'INTS9', 'score': 9.6}, {'connected_gene': 'LOC105379345', 'score': 0.44}, {'connected_gene': 'EXTL3', 'score': 0.37}, {'connected_gene': 'LOC105379344', 'score': 0.37}]
chr8	GH08I028730	28730824	28730973	0.72	[{'connected_gene': 'INTS9-AS1', 'score': 11.15}, {'connected_gene': 'INTS9', 'score': 11.04}, {'connected_gene': 'EXTL3', 'score': 10.62}, {'connected_gene': 'PIR55838', 'score': 0.39}, {'connected_gene': 'PIR53077', 'score': 0.34}]
chr8	GH08I028621	28621584	28626002	1.75	[{'connected_gene': 'LOC105379345', 'score': 550.77}, {'connected_gene': 'EXTL3', 'score': 16.81}, {'connected_gene': 'EXTL3-AS1', 'score': 10.41}, {'connected_gene': 'ELP3', 'score': 10.24}, {'connected_gene': 'ENSG00000259366', 'score': 10.0}, {'connected_gene': 'LOC105379344', 'score': 0.34}, {'connected_gene': 'GC08P028669', 'score': 0.26}]
chr8	GH08I028699	28699768	28704361	1.98	[{'connected_gene': 'EXTL3-AS1', 'score': 575.04}, {'connected_gene': 'EXTL3', 'score': 565.84}, {'connected_gene': 'INTS9', 'score': 21.53}, {'connected_gene': 'INTS9-AS1', 'score': 10.3}, {'connected_gene': 'KIF13B', 'score': 9.6}, {'connected_gene': 'ENSG00000254129', 'score': 9.55}, {'connected_gene': 'PIR55838', 'score': 0.39}]
chr8	GH08I028810	28810114	28811116	0.31	[{'connected_gene': 'RPL36AP32', 'score': 550.77}, {'connected_gene': 'KIF13B', 'score': 17.34}, {'connected_gene': 'INTS9', 'score': 9.9}, {'connected_gene': 'HMBOX1', 'score': 9.9}, {'connected_gene': 'ENSG00000254129', 'score': 9.82}, {'connected_gene': 'EXTL3', 'score': 9.28}]
chr8	GH08I028752	28752524	28752753	0.31	[{'connected_gene': 'PIR53077', 'score': 550.77}, {'connected_gene': 'PIR55838', 'score': 0.28}, {'connected_gene': 'EXTL3', 'score': 0.1}]
chr8	GH08I028669	28669784	28669893	0.57	[{'connected_gene': 'GC08P028669', 'score': 0.77}, {'connected_gene': 'PIR46988', 'score': 0.34}, {'connected_gene': 'EXTL3', 'score': 0.2}]
chr8	GH08I028745	28745164	28745293	0.6	[{'connected_gene': 'PIR53077', 'score': 0.44}, {'connected_gene': 'PIR55838', 'score': 0.31}, {'connected_gene': 'EXTL3', 'score': 0.11}]
chr8	GH08I028415	28415001	28416473	0.89	[{'connected_gene': 'GC08P028417', 'score': 550.77}, {'connected_gene': 'RNU6-178P', 'score': 550.77}, {'connected_gene': 'ENSG00000253567', 'score': 12.18}, {'connected_gene': 'ENSG00000253690', 'score': 11.15}, {'connected_gene': 'PNOC', 'score': 11.12}, {'connected_gene': 'EXTL3', 'score': 10.79}, {'connected_gene': 'FBXO16', 'score': 7.73}, {'connected_gene': 'ENSG00000254370', 'score': 0.77}, {'connected_gene': 'ZNF395', 'score': 0.39}]