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
ENST00000221418	[[39306061, 39306357], [39306496, 39306647], [39306923, 39306995], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322645]]	[[39306252, 39306357], [39306496, 39306647], [39306923, 39306995], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322412]]
ENST00000601778	[[39306496, 39306647], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322401]]	[[39306496, 39306647], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322401]]
ENST00000598707	[[39306775, 39306995], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322415]]	None
ENST00000594164	[[39307109, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322335, 39322422]]	[[39322119, 39322156], [39322335, 39322412]]
ENST00000600178	[[39307574, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322429]]	None
ENST00000601060	[[39307661, 39307769], [39307955, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322481]]	None
ENST00000598316	[[39307907, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322394]]	None
ENST00000595470	[[39307935, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322429]]	[[39307935, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322412]]
ENST00000597089	[[39321543, 39321806], [39321948, 39322028]]	None
ENST00000596118	[[39321543, 39321806], [39321959, 39322052]]	None
ENST00000601333	[[39306061, 39306357], [39306496, 39306910]]	None
ENST00000594391	[[39306122, 39306357], [39306496, 39306995], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004]]	None
ENST00000601094	[[39321717, 39321806], [39321948, 39322299]]	[[39321717, 39321806], [39321948, 39321968]]
ENST00000597805	[[39321717, 39321806], [39322360, 39322406]]	None
ENST00000597205	[[39321717, 39321806], [39322335, 39322415]]	[[39321717, 39321806], [39322335, 39322412]]
ENST00000595567	[[39321774, 39321806], [39321948, 39322156], [39322246, 39322314]]	[[39321774, 39321806], [39321948, 39321968]]
ENST00000602115	[[39322089, 39322156], [39322246, 39322388]]	[[39322089, 39322156], [39322246, 39322388]]
NM_001398	[[39306061, 39306357], [39306496, 39306647], [39306923, 39306995], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322497]]	[[39306252, 39306357], [39306496, 39306647], [39306923, 39306995], [39307092, 39307163], [39307704, 39307769], [39307955, 39308004], [39308090, 39308215], [39321717, 39321806], [39321948, 39322156], [39322360, 39322412]]

Promoter

Chrom	Start	End	Description
chr19	39322417	39322452	CAGE_peak_1_at_ECH1_5end
chr19	39322497	39322508	CAGE_peak_2_at_ECH1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I038806	38806985	38809170	0.94	[{'connected_gene': 'LGALS7B', 'score': 18.32}, {'connected_gene': 'LGALS7', 'score': 16.29}, {'connected_gene': 'ZFP36', 'score': 10.96}, {'connected_gene': 'RPS16', 'score': 10.37}, {'connected_gene': 'ECH1', 'score': 5.73}, {'connected_gene': 'GC19P038813', 'score': 0.77}, {'connected_gene': 'LGALS4', 'score': 0.44}, {'connected_gene': 'GC19M038798', 'score': 0.39}, {'connected_gene': 'RNU6-140P', 'score': 0.39}]
chr19	GH19I038784	38784278	38785070	0.72	[{'connected_gene': 'LGALS7', 'score': 71.58}, {'connected_gene': 'ECH1', 'score': 5.25}, {'connected_gene': 'LGALS7B', 'score': 0.77}]
chr19	GH19I038810	38810624	38821686	1.68	[{'connected_gene': 'LGALS4', 'score': 555.11}, {'connected_gene': 'ZNF573', 'score': 36.22}, {'connected_gene': 'HNRNPL', 'score': 35.77}, {'connected_gene': 'ENSG00000269688', 'score': 13.6}, {'connected_gene': 'LGALS7', 'score': 13.12}, {'connected_gene': 'EID2B', 'score': 12.42}, {'connected_gene': 'SUPT5H', 'score': 12.13}, {'connected_gene': 'RN7SL566P', 'score': 12.07}, {'connected_gene': 'LOC100631378', 'score': 11.36}, {'connected_gene': 'RINL', 'score': 11.18}, {'connected_gene': 'PLEKHG2', 'score': 11.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.81}, {'connected_gene': 'SAMD4B', 'score': 10.52}, {'connected_gene': 'PAF1', 'score': 10.26}, {'connected_gene': 'PAK4', 'score': 9.9}, {'connected_gene': 'FBXO17', 'score': 9.88}, {'connected_gene': 'ECH1', 'score': 5.68}, {'connected_gene': 'ACP7', 'score': 5.27}, {'connected_gene': 'ENSG00000269050', 'score': 4.83}, {'connected_gene': 'RNU6-140P', 'score': 4.79}, {'connected_gene': 'GC19P038813', 'score': 0.77}, {'connected_gene': 'ENSG00000268083', 'score': 0.34}]
chr19	GH19I038514	38514793	38515686	1.08	[{'connected_gene': 'ECH1', 'score': 5.87}, {'connected_gene': 'LGALS7', 'score': 5.25}, {'connected_gene': 'CAPN12', 'score': 4.5}, {'connected_gene': 'GC19P038502', 'score': 0.39}, {'connected_gene': 'ENSG00000269445', 'score': 0.39}, {'connected_gene': 'RYR1', 'score': 0.18}]
chr19	GH19I038829	38829045	38833605	2.33	[{'connected_gene': 'ECH1', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 35.02}, {'connected_gene': 'ENSG00000269688', 'score': 13.69}, {'connected_gene': 'LOC100631378', 'score': 12.11}, {'connected_gene': 'RN7SL566P', 'score': 12.06}, {'connected_gene': 'LGALS7', 'score': 12.06}, {'connected_gene': 'PLEKHG2', 'score': 11.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.44}, {'connected_gene': 'LGALS7B', 'score': 6.74}, {'connected_gene': 'LRFN1', 'score': 5.21}, {'connected_gene': 'ENSG00000269050', 'score': 4.92}, {'connected_gene': 'LGALS4', 'score': 4.71}, {'connected_gene': 'PIR58999', 'score': 0.77}, {'connected_gene': 'ENSG00000268083', 'score': 0.44}]
chr19	GH19I038834	38834801	38844342	1.19	[{'connected_gene': 'ENSG00000268083', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 31.75}, {'connected_gene': 'PLEKHG2', 'score': 18.89}, {'connected_gene': 'ENSG00000267892', 'score': 17.49}, {'connected_gene': 'EID2B', 'score': 17.21}, {'connected_gene': 'MED29', 'score': 15.3}, {'connected_gene': 'PAK4', 'score': 14.34}, {'connected_gene': 'RN7SL566P', 'score': 12.04}, {'connected_gene': 'LGALS7', 'score': 12.03}, {'connected_gene': 'DPF1', 'score': 12.01}, {'connected_gene': 'RPS16', 'score': 10.61}, {'connected_gene': 'ENSG00000269688', 'score': 10.52}, {'connected_gene': 'RINL', 'score': 10.33}, {'connected_gene': 'EID2', 'score': 10.08}, {'connected_gene': 'LGALS4', 'score': 5.28}, {'connected_gene': 'LGALS7B', 'score': 4.7}, {'connected_gene': 'ECH1', 'score': 0.44}]
chr19	GH19I038825	38825128	38828399	0.72	[{'connected_gene': 'PIR58999', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 24.75}, {'connected_gene': 'ENSG00000269688', 'score': 13.66}, {'connected_gene': 'RN7SL566P', 'score': 12.06}, {'connected_gene': 'LGALS7', 'score': 11.95}, {'connected_gene': 'PLEKHG2', 'score': 11.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.48}, {'connected_gene': 'ENSG00000269050', 'score': 5.49}, {'connected_gene': 'LGALS4', 'score': 4.81}, {'connected_gene': 'ECH1', 'score': 0.44}, {'connected_gene': 'ENSG00000268083', 'score': 0.39}]