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
ENST00000263239	[[118572225, 118572438], [118575019, 118575304], [118577224, 118577368], [118578736, 118578872], [118579225, 118579326], [118579437, 118579637], [118579722, 118579837], [118582144, 118582284], [118582515, 118582677], [118583022, 118583175], [118583844, 118583958], [118586524, 118586581], [118586864, 118587042], [118588157, 118589955]]	[[118572353, 118572438], [118575019, 118575304], [118577224, 118577368], [118578736, 118578872], [118579225, 118579326], [118579437, 118579637], [118579722, 118579837], [118582144, 118582284], [118582515, 118582677], [118583022, 118583175], [118583844, 118583958], [118586524, 118586581], [118586864, 118587042], [118588157, 118588300]]
ENST00000474694	[[118572633, 118572668], [118573263, 118573299], [118575019, 118575304], [118577224, 118577368], [118578736, 118578872], [118579225, 118579326], [118579437, 118579637], [118579722, 118579837], [118582144, 118582175]]	None
ENST00000489933	[[118579551, 118579637], [118579722, 118580356]]	None
ENST00000415038	[[118579722, 118579837], [118582144, 118582284], [118582572, 118582677], [118583022, 118583175], [118583844, 118583958], [118586524, 118586541]]	[[118579722, 118579837], [118582144, 118582284], [118582572, 118582677], [118583022, 118583175], [118583844, 118583958], [118586524, 118586541]]
ENST00000476149	[[118581912, 118582284], [118582515, 118582677], [118583022, 118583175], [118583844, 118587042], [118588157, 118589946]]	None
ENST00000461443	[[118582572, 118582677], [118583022, 118583559]]	None
NM_006773	[[118572254, 118572438], [118575019, 118575304], [118577224, 118577368], [118578736, 118578872], [118579225, 118579326], [118579437, 118579637], [118579722, 118579837], [118582144, 118582284], [118582515, 118582677], [118583022, 118583175], [118583844, 118583958], [118586524, 118586581], [118586864, 118587042], [118588157, 118589953]]	[[118572353, 118572438], [118575019, 118575304], [118577224, 118577368], [118578736, 118578872], [118579225, 118579326], [118579437, 118579637], [118579722, 118579837], [118582144, 118582284], [118582515, 118582677], [118583022, 118583175], [118583844, 118583958], [118586524, 118586581], [118586864, 118587042], [118588157, 118588300]]

Promoter

Chrom	Start	End	Description
chr2	118572231	118572345	CAGE_peak_1_at_DDX18_5end
chr2	118572350	118572364	CAGE_peak_3_at_DDX18_5end
chr2	118572460	118572474	CAGE_peak_4_at_DDX18_5end
chr2	118572576	118572612	CAGE_peak_2_at_DDX18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I117813	117813464	117816946	2.1	[{'connected_gene': 'DDX18', 'score': 583.53}, {'connected_gene': 'CCDC93', 'score': 18.05}, {'connected_gene': 'LOC102723413', 'score': 10.18}, {'connected_gene': 'HTR5BP', 'score': 9.85}, {'connected_gene': 'GC02P117861', 'score': 0.37}]
chr2	GH02I118061	118061445	118061654	0.64	[{'connected_gene': 'DDX18', 'score': 5.16}, {'connected_gene': 'INSIG2', 'score': 0.31}, {'connected_gene': 'RN7SL111P', 'score': 0.25}]
chr2	GH02I118054	118054720	118056937	0.94	[{'connected_gene': 'HTR5BP', 'score': 10.48}, {'connected_gene': 'CCDC93', 'score': 5.91}, {'connected_gene': 'DDX18', 'score': 5.25}, {'connected_gene': 'INSIG2', 'score': 0.29}, {'connected_gene': 'RN7SL111P', 'score': 0.28}, {'connected_gene': 'LOC102723413', 'score': 0.21}]
chr2	GH02I118120	118120429	118120806	0.39	[{'connected_gene': 'CCDC93', 'score': 6.21}, {'connected_gene': 'HTR5BP', 'score': 4.25}, {'connected_gene': 'DDX18', 'score': 2.48}, {'connected_gene': 'GC02M118122', 'score': 0.77}, {'connected_gene': 'INSIG2', 'score': 0.29}]
chr2	GH02I117982	117982609	117983418	0.54	[{'connected_gene': 'CCDC93', 'score': 24.48}, {'connected_gene': 'HTR5BP', 'score': 10.53}, {'connected_gene': 'DDX18', 'score': 1.69}, {'connected_gene': 'GC02M117974', 'score': 0.44}, {'connected_gene': 'GC02M117973', 'score': 0.44}, {'connected_gene': 'LOC102723413', 'score': 0.39}]
chr2	GH02I117978	117978955	117982603	1.13	[{'connected_gene': 'CCDC93', 'score': 24.02}, {'connected_gene': 'HTR5BP', 'score': 10.39}, {'connected_gene': 'DDX18', 'score': 7.67}, {'connected_gene': 'GC02M117974', 'score': 0.44}, {'connected_gene': 'GC02M117973', 'score': 0.44}, {'connected_gene': 'LOC102723413', 'score': 0.39}]
chr2	GH02I118059	118059330	118061401	0.95	[{'connected_gene': 'CCDC93', 'score': 19.03}, {'connected_gene': 'INSIG2', 'score': 6.38}, {'connected_gene': 'DDX18', 'score': 5.56}, {'connected_gene': 'RN7SL111P', 'score': 0.26}]
chr2	GH02I117835	117835545	117836847	1.19	[{'connected_gene': 'CCDC93', 'score': 19.26}, {'connected_gene': 'LOC102723413', 'score': 10.67}, {'connected_gene': 'DDX18', 'score': 6.34}, {'connected_gene': 'ENSG00000236255', 'score': 0.77}, {'connected_gene': 'GC02P117861', 'score': 0.77}, {'connected_gene': 'HTR5BP', 'score': 0.34}]
chr2	GH02I117820	117820498	117820875	0.41	[{'connected_gene': 'CCDC93', 'score': 16.38}, {'connected_gene': 'LOC102723413', 'score': 10.19}, {'connected_gene': 'ENSG00000236255', 'score': 9.43}, {'connected_gene': 'DDX18', 'score': 8.54}, {'connected_gene': 'GC02P117861', 'score': 0.39}]
chr2	GH02I118084	118084746	118091000	2.54	[{'connected_gene': 'INSIG2', 'score': 564.82}, {'connected_gene': 'CCDC93', 'score': 9.91}, {'connected_gene': 'HTR5BP', 'score': 8.24}, {'connected_gene': 'DDX18', 'score': 4.19}, {'connected_gene': 'RN7SL111P', 'score': 0.19}]
chr2	GH02I118016	118016904	118017388	0.56	[{'connected_gene': 'RN7SL111P', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 18.89}, {'connected_gene': 'DDX18', 'score': 2.5}, {'connected_gene': 'LOC102723413', 'score': 0.34}, {'connected_gene': 'INSIG2', 'score': 0.19}]
chr2	GH02I117803	117803601	117804200	0.79	[{'connected_gene': 'ENSG00000238207', 'score': 550.77}, {'connected_gene': 'ENSG00000236255', 'score': 9.87}, {'connected_gene': 'HTR5BP', 'score': 9.81}, {'connected_gene': 'CCDC93', 'score': 7.93}, {'connected_gene': 'DDX18', 'score': 6.23}, {'connected_gene': 'PIR61142', 'score': 0.06}]
chr2	GH02I118121	118121948	118125391	1.14	[{'connected_gene': 'GC02M118122', 'score': 550.77}, {'connected_gene': 'INSIG2', 'score': 6.9}, {'connected_gene': 'DDX18', 'score': 6.66}, {'connected_gene': 'HTR5BP', 'score': 4.09}, {'connected_gene': 'GC02P118132', 'score': 0.44}]