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
ENST00000335556	[[169629359, 169629609], [169633154, 169633229], [169637245, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656963]]	[[169637286, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656294]]
ENST00000428432	[[169629359, 169629609], [169633154, 169633252], [169637245, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656963]]	[[169637286, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656294]]
ENST00000487910	[[169633198, 169633229], [169637245, 169637372], [169639001, 169639126], [169642845, 169642924], [169644000, 169644113], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656375]]	[[169637286, 169637372], [169639001, 169639126], [169642845, 169642924], [169644000, 169644007]]
NM_001304366	[[169629359, 169629609], [169633154, 169633229], [169637245, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656963]]	[[169637286, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656294]]
NR_130713	[[169629359, 169629609], [169633154, 169633229], [169637245, 169637372], [169639001, 169639126], [169642845, 169642924], [169644000, 169644113], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656963]]	None
NM_182610	[[169629359, 169629609], [169633154, 169633252], [169637245, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656963]]	[[169637286, 169637372], [169639001, 169639126], [169642845, 169642924], [169644340, 169644969], [169646244, 169646366], [169654126, 169654237], [169656105, 169656294]]

Promoter

Chrom	Start	End	Description
chr3	169629354	169629372	CAGE_peak_1_at_SAMD7_5end
chr3	169629479	169629492	CAGE_peak_2_at_SAMD7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I170006	170006732	170007600	1.06	[{'connected_gene': 'PHC3', 'score': 17.38}, {'connected_gene': 'GPR160', 'score': 17.1}, {'connected_gene': 'MYNN', 'score': 17.03}, {'connected_gene': 'LOC100128164', 'score': 16.39}, {'connected_gene': 'RNU4-38P', 'score': 11.54}, {'connected_gene': 'RPL22P1', 'score': 11.27}, {'connected_gene': 'SAMD7', 'score': 10.83}, {'connected_gene': 'LRRIQ4', 'score': 10.82}, {'connected_gene': 'LRRC34', 'score': 10.82}, {'connected_gene': 'SEC62', 'score': 10.8}, {'connected_gene': 'RPL22L1', 'score': 10.52}, {'connected_gene': 'SEC62-AS1', 'score': 10.34}]
chr3	GH03I169908	169907613	169907722	0.49	[{'connected_gene': 'LRRC31', 'score': 11.23}, {'connected_gene': 'SEC62', 'score': 10.88}, {'connected_gene': 'LOC100128164', 'score': 10.88}, {'connected_gene': 'SAMD7', 'score': 0.77}, {'connected_gene': 'LOC100421510', 'score': 0.34}]
chr3	GH03I169907	169907732	169907762	0.49	[{'connected_gene': 'LRRC31', 'score': 11.23}, {'connected_gene': 'SEC62', 'score': 10.88}, {'connected_gene': 'LOC100128164', 'score': 10.88}, {'connected_gene': 'SAMD7', 'score': 0.77}, {'connected_gene': 'LOC100421510', 'score': 0.34}]
chr3	GH03I169949	169949053	169949262	0.72	[{'connected_gene': 'LRRC31', 'score': 11.41}, {'connected_gene': 'SAMD7', 'score': 10.48}, {'connected_gene': 'LRRC34', 'score': 10.43}, {'connected_gene': 'LRRIQ4', 'score': 10.43}, {'connected_gene': 'ENSG00000244193', 'score': 0.77}, {'connected_gene': 'SEC62', 'score': 0.37}, {'connected_gene': 'LOC100128164', 'score': 0.37}]
chr3	GH03I169952	169952166	169952800	0.84	[{'connected_gene': 'SKIL', 'score': 21.09}, {'connected_gene': 'LRRC31', 'score': 11.4}, {'connected_gene': 'SAMD7', 'score': 10.46}, {'connected_gene': 'LRRIQ4', 'score': 10.43}, {'connected_gene': 'LRRC34', 'score': 10.43}, {'connected_gene': 'SEC62', 'score': 2.57}, {'connected_gene': 'ENSG00000244193', 'score': 0.44}, {'connected_gene': 'LOC100128164', 'score': 0.39}]
chr3	GH03I169911	169911523	169911582	0.5	[{'connected_gene': 'SAMD7', 'score': 550.44}, {'connected_gene': 'LOC100421510', 'score': 0.34}]
chr3	GH03I170033	170033328	170034096	1.03	[{'connected_gene': 'GPR160', 'score': 15.77}, {'connected_gene': 'RNU4-38P', 'score': 13.58}, {'connected_gene': 'SEC62', 'score': 13.03}, {'connected_gene': 'LOC100128164', 'score': 11.45}, {'connected_gene': 'LRRC31', 'score': 10.9}, {'connected_gene': 'LRRIQ4', 'score': 10.4}, {'connected_gene': 'LRRC34', 'score': 10.4}, {'connected_gene': 'SAMD7', 'score': 10.39}, {'connected_gene': 'RNU7-32P', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 7.72}, {'connected_gene': 'SEC62-AS1', 'score': 0.25}]
chr3	GH03I169931	169931457	169933515	0.95	[{'connected_gene': 'LOC100421510', 'score': 550.77}, {'connected_gene': 'LOC100128164', 'score': 17.48}, {'connected_gene': 'SEC62', 'score': 12.52}, {'connected_gene': 'LRRC31', 'score': 11.18}, {'connected_gene': 'GPR160', 'score': 11.13}, {'connected_gene': 'SAMD7', 'score': 11.05}, {'connected_gene': 'GC03P169939', 'score': 0.44}]
chr3	GH03I169953	169953378	169955238	1.09	[{'connected_gene': 'LOC100128164', 'score': 12.07}, {'connected_gene': 'LRRC31', 'score': 11.4}, {'connected_gene': 'SAMD7', 'score': 10.46}, {'connected_gene': 'LRRC34', 'score': 10.42}, {'connected_gene': 'LRRIQ4', 'score': 10.42}, {'connected_gene': 'GPR160', 'score': 10.38}, {'connected_gene': 'ENSG00000244193', 'score': 0.44}, {'connected_gene': 'SEC62', 'score': 0.39}]
chr3	GH03I169938	169938558	169942774	1.23	[{'connected_gene': 'GC03P169939', 'score': 550.77}, {'connected_gene': 'LOC100128164', 'score': 23.73}, {'connected_gene': 'SEC62', 'score': 12.64}, {'connected_gene': 'LRRC31', 'score': 11.59}, {'connected_gene': 'SAMD7', 'score': 11.34}, {'connected_gene': 'GPR160', 'score': 10.96}, {'connected_gene': 'LRRC34', 'score': 10.31}, {'connected_gene': 'LRRIQ4', 'score': 10.31}, {'connected_gene': 'ENSG00000244193', 'score': 0.44}]
chr3	GH03I169944	169944383	169946703	1.29	[{'connected_gene': 'ENSG00000244193', 'score': 550.77}, {'connected_gene': 'LOC100128164', 'score': 20.54}, {'connected_gene': 'SEC62', 'score': 12.67}, {'connected_gene': 'LRRC31', 'score': 11.58}, {'connected_gene': 'GPR160', 'score': 10.69}, {'connected_gene': 'SAMD7', 'score': 10.48}, {'connected_gene': 'LRRC34', 'score': 10.43}, {'connected_gene': 'LRRIQ4', 'score': 10.43}, {'connected_gene': 'GC03P169939', 'score': 0.44}]