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
ENST00000353258	[[19513014, 19514939], [19516202, 19516414], [19519008, 19519101], [19522160, 19522266], [19528335, 19528511], [19533025, 19533467]]	[[19514791, 19514939], [19516202, 19516414], [19519008, 19519101], [19522160, 19522266], [19528335, 19528511], [19533025, 19533286]]
ENST00000564172	[[19513704, 19514939], [19516202, 19516414], [19519008, 19519101], [19522160, 19522266], [19528335, 19528507], [19533025, 19533445]]	[[19528441, 19528507], [19533025, 19533286]]
ENST00000569773	[[19519006, 19519101], [19522160, 19522266], [19528335, 19528507], [19532544, 19532910]]	[[19519006, 19519101], [19522160, 19522266], [19528335, 19528442]]
ENST00000563645	[[19514422, 19514939], [19516202, 19516454]]	None
ENST00000569899	[[19515182, 19516414], [19518976, 19519101], [19522160, 19522266], [19528335, 19528490]]	[[19516410, 19516414], [19518976, 19519101], [19522160, 19522266], [19528335, 19528490]]
NM_016641	[[19513014, 19514939], [19516202, 19516414], [19519008, 19519101], [19522160, 19522266], [19528335, 19528511], [19533025, 19533450]]	[[19514791, 19514939], [19516202, 19516414], [19519008, 19519101], [19522160, 19522266], [19528335, 19528511], [19533025, 19533286]]
NR_136689	[[19513014, 19514939], [19516202, 19516414], [19518976, 19519101], [19522160, 19522266], [19528335, 19528511], [19533025, 19533467]]	None
NM_001324067	[[19513014, 19514939], [19516202, 19516414], [19522160, 19522266], [19528335, 19528511], [19533025, 19533467]]	[[19514791, 19514939], [19516202, 19516414], [19522160, 19522266], [19528335, 19528511], [19533025, 19533286]]
NM_001324066	[[19513014, 19514939], [19516202, 19516414], [19519008, 19519101], [19522160, 19522266], [19528335, 19528507], [19533025, 19533467]]	[[19514791, 19514939], [19516202, 19516414], [19519008, 19519101], [19522160, 19522266], [19528335, 19528442]]

Promoter

Chrom	Start	End	Description
chr16	19533340	19533368	CAGE_peak_2_at_GDE1_5end
chr16	19533384	19533403	CAGE_peak_3_at_GDE1_5end
chr16	19533404	19533450	CAGE_peak_1_at_GDE1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I019529	19529827	19538004	0.54	[{'connected_gene': 'CCP110', 'score': 18.06}, {'connected_gene': 'C16orf62', 'score': 12.01}, {'connected_gene': 'RNU4-46P', 'score': 11.41}, {'connected_gene': 'KNOP1', 'score': 8.12}, {'connected_gene': 'GDE1', 'score': 4.71}, {'connected_gene': 'GC16P019537', 'score': 0.77}]
chr16	GH16I019580	19580327	19582996	0.52	[{'connected_gene': 'CCP110', 'score': 12.1}, {'connected_gene': 'KNOP1', 'score': 6.94}, {'connected_gene': 'GDE1', 'score': 5.52}, {'connected_gene': 'C16orf62', 'score': 0.31}, {'connected_gene': 'GC16M019688', 'score': 0.14}, {'connected_gene': 'GC16M019687', 'score': 0.14}]
chr16	GH16I019381	19381799	19383437	0.74	[{'connected_gene': 'TMC5', 'score': 34.66}, {'connected_gene': 'SYT17', 'score': 15.28}, {'connected_gene': 'GDE1', 'score': 5.06}, {'connected_gene': 'GC16P019387', 'score': 0.44}, {'connected_gene': 'GC16P019371', 'score': 0.39}, {'connected_gene': 'LOC105371114', 'score': 0.39}, {'connected_gene': 'ENSG00000259925', 'score': 0.37}]
chr16	GH16I019554	19554337	19556914	2.09	[{'connected_gene': 'C16orf62', 'score': 560.92}, {'connected_gene': 'RPS15A', 'score': 22.6}, {'connected_gene': 'CCP110', 'score': 19.09}, {'connected_gene': 'COQ7', 'score': 10.09}, {'connected_gene': 'TMC5', 'score': 7.67}, {'connected_gene': 'KNOP1', 'score': 6.91}, {'connected_gene': 'GDE1', 'score': 5.0}, {'connected_gene': 'GC16M019688', 'score': 0.12}, {'connected_gene': 'GC16M019687', 'score': 0.12}]
chr16	GH16I019515	19515093	19518086	0.78	[{'connected_gene': 'C16orf62', 'score': 11.48}, {'connected_gene': 'COQ7', 'score': 10.18}, {'connected_gene': 'CCP110', 'score': 9.79}, {'connected_gene': 'KNOP1', 'score': 6.9}, {'connected_gene': 'GDE1', 'score': 4.75}, {'connected_gene': 'GC16P019512', 'score': 0.77}]
chr16	GH16I019520	19520153	19523130	2.5	[{'connected_gene': 'GDE1', 'score': 550.77}, {'connected_gene': 'CCP110', 'score': 11.92}, {'connected_gene': 'KNOP1', 'score': 6.08}, {'connected_gene': 'SYT17', 'score': 5.1}, {'connected_gene': 'GC16P019512', 'score': 0.44}]
chr16	GH16I019561	19561263	19562793	0.2	[{'connected_gene': 'GDE1', 'score': 10.17}, {'connected_gene': 'KNOP1', 'score': 9.15}, {'connected_gene': 'C16orf62', 'score': 0.44}, {'connected_gene': 'GC16M019688', 'score': 0.13}, {'connected_gene': 'GC16M019687', 'score': 0.13}]
chr16	GH16I019502	19502759	19502928	0.69	[{'connected_gene': 'ENSG00000279747', 'score': 550.77}, {'connected_gene': 'ENSG00000260934', 'score': 550.77}, {'connected_gene': 'CCP110', 'score': 8.24}, {'connected_gene': 'GDE1', 'score': 0.37}]
chr16	GH16I019512	19512991	19514573	0.88	[{'connected_gene': 'GC16P019512', 'score': 550.77}, {'connected_gene': 'CCP110', 'score': 11.16}, {'connected_gene': 'COQ7', 'score': 9.68}, {'connected_gene': 'GDE1', 'score': 0.44}]
chr16	GH16I019487	19487201	19489422	1.15	[{'connected_gene': 'ENSG00000260592', 'score': 550.77}, {'connected_gene': 'COQ7', 'score': 20.4}, {'connected_gene': 'SMG1', 'score': 13.02}, {'connected_gene': 'RPS15A', 'score': 10.59}, {'connected_gene': 'SYT17', 'score': 10.4}, {'connected_gene': 'KNOP1', 'score': 7.69}, {'connected_gene': 'CCP110', 'score': 6.76}, {'connected_gene': 'TMC5', 'score': 5.64}, {'connected_gene': 'GDE1', 'score': 4.61}, {'connected_gene': 'GC16P019498', 'score': 0.39}]