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
ENST00000304414	[[18802990, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810156], [18812752, 18813000]]	[[18804573, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810156], [18812752, 18812788]]
ENST00000563861	[[18804200, 18804692], [18805920, 18806005], [18809246, 18809366], [18810022, 18810156], [18812752, 18812869]]	[[18805995, 18806005], [18809246, 18809366], [18810022, 18810156], [18812752, 18812788]]
ENST00000546206	[[18804268, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810156], [18812520, 18812746]]	[[18804573, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810105]]
ENST00000562819	[[18804343, 18804692], [18810044, 18810156], [18812752, 18812869]]	[[18804573, 18804692], [18810044, 18810156], [18812752, 18812788]]
ENST00000562234	[[18805995, 18806005], [18806785, 18806903], [18809246, 18809274], [18810044, 18810156], [18812752, 18812875]]	[[18805995, 18806005], [18806785, 18806903], [18809246, 18809274], [18810044, 18810156], [18812752, 18812788]]
ENST00000569976	[[18806497, 18806903], [18809246, 18809366], [18810022, 18810156], [18812752, 18812870]]	None
ENST00000567969	[[18809033, 18809366], [18810022, 18810156], [18812752, 18812866]]	None
ENST00000566391	[[18809492, 18810156], [18812752, 18812894]]	None
NM_001313858	[[18802988, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810156], [18812520, 18812692]]	[[18804573, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810105]]
NM_015161	[[18802988, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810156], [18812752, 18813000]]	[[18804573, 18804692], [18805920, 18806005], [18806785, 18806903], [18809246, 18809366], [18810022, 18810156], [18812752, 18812788]]

Promoter

Chrom	Start	End	Description
chr16	18812860	18812878	CAGE_peak_1_at_ARL6IP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I018786	18786475	18791478	2.51	[{'connected_gene': 'RPS15A', 'score': 563.31}, {'connected_gene': 'ARL6IP1', 'score': 13.67}, {'connected_gene': 'CCP110', 'score': 12.66}, {'connected_gene': 'COQ7', 'score': 9.72}, {'connected_gene': 'ENSG00000205746', 'score': 4.97}, {'connected_gene': 'GC16M018782', 'score': 0.77}, {'connected_gene': 'ENSG00000260342', 'score': 0.39}]
chr16	GH16I018945	18945682	18946997	1.15	[{'connected_gene': 'PKD1P5', 'score': 13.73}, {'connected_gene': 'NPIPA8', 'score': 13.04}, {'connected_gene': 'ENSG00000205746', 'score': 12.07}, {'connected_gene': 'TMC7', 'score': 11.76}, {'connected_gene': 'ARL6IP1', 'score': 11.34}, {'connected_gene': 'COQ7', 'score': 10.54}, {'connected_gene': 'ENSG00000260352', 'score': 0.37}]
chr16	GH16I018936	18936717	18937557	0.89	[{'connected_gene': 'ARL6IP1', 'score': 10.95}, {'connected_gene': 'ENSG00000260352', 'score': 0.39}, {'connected_gene': 'GC16P018887', 'score': 0.25}, {'connected_gene': 'TMC7', 'score': 0.25}]
chr16	GH16I018818	18818940	18820280	0.2	[{'connected_gene': 'ARL6IP1', 'score': 14.38}, {'connected_gene': 'RPS15A', 'score': 12.05}, {'connected_gene': 'COQ7', 'score': 10.03}, {'connected_gene': 'GC16M018804', 'score': 0.39}, {'connected_gene': 'LOC100996247', 'score': 0.22}, {'connected_gene': 'SMG1', 'score': 0.14}]
chr16	GH16I018780	18780124	18782389	0.43	[{'connected_gene': 'ARL6IP1', 'score': 9.19}, {'connected_gene': 'ENSG00000205746', 'score': 4.94}, {'connected_gene': 'RPS15A', 'score': 0.44}, {'connected_gene': 'GC16M018782', 'score': 0.44}, {'connected_gene': 'PIR49143', 'score': 0.12}]
chr16	GH16I018784	18783844	18784289	0.69	[{'connected_gene': 'ARL6IP1', 'score': 13.28}, {'connected_gene': 'GC16M018782', 'score': 0.77}, {'connected_gene': 'RPS15A', 'score': 0.44}, {'connected_gene': 'PIR49143', 'score': 0.11}]
chr16	GH16I018797	18797463	18807179	2.08	[{'connected_gene': 'ARL6IP1', 'score': 564.77}, {'connected_gene': 'ENSG00000260342', 'score': 550.77}, {'connected_gene': 'ENSG00000260017', 'score': 550.77}, {'connected_gene': 'ENSG00000205746', 'score': 16.13}, {'connected_gene': 'SMG1', 'score': 14.47}, {'connected_gene': 'NPIPA8', 'score': 12.4}, {'connected_gene': 'PKD1P5', 'score': 11.44}, {'connected_gene': 'COQ7', 'score': 2.61}, {'connected_gene': 'GC16M018804', 'score': 0.44}]
chr16	GH16I018861	18861535	18863691	0.56	[{'connected_gene': 'ARL6IP1', 'score': 14.22}, {'connected_gene': 'SMG1', 'score': 5.83}, {'connected_gene': 'ENSG00000205746', 'score': 4.8}, {'connected_gene': 'LOC100996247', 'score': 0.39}, {'connected_gene': 'GC16M018804', 'score': 0.23}]
chr16	GH16I018923	18923056	18924148	0.56	[{'connected_gene': 'ARL6IP1', 'score': 9.16}, {'connected_gene': 'SMG1', 'score': 6.31}, {'connected_gene': 'ENSG00000205746', 'score': 4.96}, {'connected_gene': 'GC16P018887', 'score': 0.28}]
chr16	GH16I018899	18899401	18900000	0.31	[{'connected_gene': 'ARL6IP1', 'score': 14.16}, {'connected_gene': 'ENSG00000205746', 'score': 4.8}, {'connected_gene': 'GC16P018887', 'score': 0.39}, {'connected_gene': 'SMG1', 'score': 0.31}]
chr16	GH16I018828	18828025	18830486	0.31	[{'connected_gene': 'ARL6IP1', 'score': 14.99}, {'connected_gene': 'ENSG00000205746', 'score': 4.97}, {'connected_gene': 'GC16M018804', 'score': 0.34}, {'connected_gene': 'LOC100996247', 'score': 0.25}, {'connected_gene': 'SMG1', 'score': 0.15}]
chr16	GH16I018766	18766931	18767994	0.56	[{'connected_gene': 'ARL6IP1', 'score': 12.07}, {'connected_gene': 'ENSG00000205746', 'score': 4.92}, {'connected_gene': 'GC16M018782', 'score': 0.37}, {'connected_gene': 'PIR49143', 'score': 0.13}]
chr16	GH16I018762	18762583	18763426	0.57	[{'connected_gene': 'ARL6IP1', 'score': 6.35}, {'connected_gene': 'GC16M018782', 'score': 0.34}, {'connected_gene': 'PIR49143', 'score': 0.13}]
chr16	GH16I018955	18955801	18956800	0.74	[{'connected_gene': 'SMG1', 'score': 12.61}, {'connected_gene': 'ARL6IP1', 'score': 5.41}, {'connected_gene': 'TMC7', 'score': 0.31}, {'connected_gene': 'ENSG00000260352', 'score': 0.31}]
chr16	GH16I018924	18924400	18928137	2.06	[{'connected_gene': 'SMG1', 'score': 550.77}, {'connected_gene': 'ENSG00000260352', 'score': 550.77}, {'connected_gene': 'ENSG00000205746', 'score': 17.41}, {'connected_gene': 'ARL6IP1', 'score': 14.0}, {'connected_gene': 'NPIPA8', 'score': 13.87}, {'connected_gene': 'PKD1P5', 'score': 13.12}, {'connected_gene': 'GC16P018887', 'score': 0.28}]
chr16	GH16I018793	18793179	18793328	0.46	[{'connected_gene': 'COQ7', 'score': 9.34}, {'connected_gene': 'RPS15A', 'score': 0.77}, {'connected_gene': 'ENSG00000260342', 'score': 0.44}, {'connected_gene': 'ARL6IP1', 'score': 0.44}]
chr16	GH16I018796	18796539	18796688	0.31	[{'connected_gene': 'ENSG00000260342', 'score': 0.77}, {'connected_gene': 'RPS15A', 'score': 0.44}, {'connected_gene': 'ARL6IP1', 'score': 0.44}]
chr16	GH16I017964	17964344	17964493	0.2	[{'connected_gene': 'PIR45580', 'score': 550.77}, {'connected_gene': 'PIR60320', 'score': 550.77}, {'connected_gene': 'ARL6IP1', 'score': 4.3}, {'connected_gene': 'GC16P018019', 'score': 0.23}, {'connected_gene': 'ENSG00000259929', 'score': 0.09}]