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
ENST00000322231	[[23145352, 23145765], [23157452, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23215036]]	[[23157529, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
ENST00000521082	[[23145376, 23145765], [23157452, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23214921]]	[[23145645, 23145765], [23157452, 23157455]]
ENST00000339077	[[23145402, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23217533]]	[[23145645, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
ENST00000539124	[[23145408, 23145765], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213992]]	[[23164311, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
ENST00000542558	[[23145427, 23145765], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23214292]]	[[23183526, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
ENST00000409689	[[23145913, 23146413], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23215007]]	[[23163419, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
ENST00000545443	[[23157529, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23215036]]	[[23157529, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
ENST00000479288	[[23145376, 23145765], [23180387, 23180563], [23183469, 23183520]]	None
ENST00000322275	[[23145403, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165664]]	[[23145645, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165438]]
ENST00000459661	[[23145408, 23145765], [23164306, 23164400], [23164666, 23164791], [23180387, 23180403]]	None
ENST00000491352	[[23145735, 23145765], [23157452, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164821]]	None
ENST00000410047	[[23145916, 23146413], [23157452, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165662]]	[[23157529, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165438]]
ENST00000479700	[[23146274, 23146413], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165506]]	None
ENST00000545771	[[23146277, 23146413], [23157452, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23165255]]	[[23157529, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164847]]
ENST00000477076	[[23164598, 23164791], [23165379, 23165668]]	None
ENST00000414163	[[23183547, 23183644], [23191685, 23191828], [23195609, 23195787]]	[[23183547, 23183644], [23191685, 23191828], [23195609, 23195651]]
ENST00000469576	[[23205493, 23205557], [23207454, 23207721]]	None
ENST00000469845	[[23212407, 23212664], [23213633, 23213811]]	None
NM_001031710	[[23145352, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23215040]]	[[23145645, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
NR_033328	[[23145352, 23145765], [23157452, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23215040]]	None
NM_018846	[[23145916, 23146413], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23215040]]	[[23163419, 23163498], [23164306, 23164400], [23164666, 23164791], [23180387, 23180563], [23183469, 23183644], [23191685, 23191828], [23205316, 23205557], [23207454, 23207656], [23212566, 23212664], [23213633, 23213917]]
NM_001172428	[[23145352, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165669]]	[[23145645, 23145765], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165438]]
NR_033329	[[23145352, 23145765], [23157452, 23157583], [23163395, 23163498], [23164306, 23164400], [23164666, 23164791], [23165379, 23165669]]	None

Promoter

Chrom	Start	End	Description
chr7	23145347	23145358	CAGE_peak_3_at_KLHL7_5end
chr7	23145366	23145443	CAGE_peak_1_at_KLHL7_5end
chr7	23145474	23145492	CAGE_peak_2_at_KLHL7_5end
chr7	23145870	23145879	CAGE_peak_8_at_KLHL7_5end
chr7	23145884	23145904	CAGE_peak_5_at_KLHL7_5end
chr7	23146271	23146285	CAGE_peak_4_at_KLHL7_5end
chr7	23205190	23205198	CAGE_peak_10_at_KLHL7_5end
chr7	23205201	23205207	CAGE_peak_13_at_KLHL7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I023108	23108401	23108800	0.2	[{'connected_gene': 'NUPL2', 'score': 10.63}, {'connected_gene': 'FAM126A', 'score': 9.84}, {'connected_gene': 'KLHL7', 'score': 0.77}, {'connected_gene': 'AK3P3', 'score': 0.34}]
chr7	GH07I023308	23308421	23308824	0.37	[{'connected_gene': 'NUPL2', 'score': 2.51}, {'connected_gene': 'IGF2BP3', 'score': 2.16}, {'connected_gene': 'KLHL7', 'score': 1.34}, {'connected_gene': 'MALSU1', 'score': 0.44}, {'connected_gene': 'ENSG00000232627', 'score': 0.22}]
chr7	GH07I023449	23449173	23449499	0.33	[{'connected_gene': 'RNU7-143P', 'score': 550.77}, {'connected_gene': 'GC07P023450', 'score': 550.77}, {'connected_gene': 'IGF2BP3', 'score': 1.97}, {'connected_gene': 'KLHL7', 'score': 1.47}, {'connected_gene': 'NUPL2', 'score': 1.37}, {'connected_gene': 'GC07M023312', 'score': 0.34}]
chr7	GH07I023246	23246122	23248763	1.72	[{'connected_gene': 'GPNMB', 'score': 550.39}, {'connected_gene': 'KLHL7-AS1', 'score': 39.63}, {'connected_gene': 'IGF2BP3', 'score': 10.31}, {'connected_gene': 'LOC389473', 'score': 10.3}, {'connected_gene': 'KLHL7', 'score': 7.29}, {'connected_gene': 'ENSG00000226816', 'score': 7.19}, {'connected_gene': 'MALSU1', 'score': 0.23}]
chr7	GH07I023104	23104906	23107829	2.01	[{'connected_gene': 'KLHL7-AS1', 'score': 629.51}, {'connected_gene': 'KLHL7', 'score': 558.81}, {'connected_gene': 'NUPL2', 'score': 10.62}, {'connected_gene': 'FAM126A', 'score': 9.84}, {'connected_gene': 'AK3P3', 'score': 5.22}]
chr7	GH07I023117	23117778	23118629	0.43	[{'connected_gene': 'KLHL7-AS1', 'score': 73.09}, {'connected_gene': 'KLHL7', 'score': 5.57}, {'connected_gene': 'AK3P3', 'score': 0.39}]
chr7	GH07I023114	23114161	23116965	0.69	[{'connected_gene': 'KLHL7-AS1', 'score': 73.87}, {'connected_gene': 'NUPL2', 'score': 10.65}, {'connected_gene': 'FAM126A', 'score': 10.1}, {'connected_gene': 'AK3P3', 'score': 5.01}, {'connected_gene': 'KLHL7', 'score': 0.44}]
chr7	GH07I023291	23291704	23296557	0.9	[{'connected_gene': 'KLHL7-AS1', 'score': 36.48}, {'connected_gene': 'IGF2BP3', 'score': 11.23}, {'connected_gene': 'LOC389473', 'score': 11.22}, {'connected_gene': 'KLHL7', 'score': 7.23}, {'connected_gene': 'MALSU1', 'score': 0.77}, {'connected_gene': 'GPNMB', 'score': 0.22}]
chr7	GH07I023128	23128420	23128503	0.22	[{'connected_gene': 'AK3P3', 'score': 550.77}, {'connected_gene': 'KLHL7', 'score': 0.34}]
chr7	GH07I023396	23396082	23397420	0.46	[{'connected_gene': 'GC07P023398', 'score': 550.77}, {'connected_gene': 'SNORD65C', 'score': 550.77}, {'connected_gene': 'KLHL7-AS1', 'score': 5.66}, {'connected_gene': 'KLHL7', 'score': 5.52}, {'connected_gene': 'GC07M023312', 'score': 0.29}, {'connected_gene': 'IGF2BP3', 'score': 0.19}]