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
ENST00000256544	[[34432874, 34434572], [34437598, 34437692], [34438961, 34439051], [34439400, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455891], [34502151, 34502280]]	[[34434539, 34434572], [34437598, 34437692], [34438961, 34439051], [34439400, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455877]]
ENST00000560247	[[34438270, 34439490], [34439580, 34439631], [34440832, 34440951], [34446844, 34446885], [34455760, 34455891], [34502151, 34502297]]	None
ENST00000540594	[[34438860, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445270], [34446844, 34446885], [34502151, 34502297]]	None
ENST00000560671	[[34440590, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455891], [34502151, 34502262]]	None
ENST00000557877	[[34440853, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455891], [34458130, 34458316], [34502151, 34502212]]	[[34440853, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455877]]
ENST00000559462	[[34440856, 34440951], [34444990, 34445270], [34446844, 34446885], [34502151, 34502297]]	[[34440856, 34440951], [34444990, 34445140]]
ENST00000560108	[[34440858, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455891], [34470021, 34470200], [34502151, 34502280]]	[[34440858, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455877]]
ENST00000559515	[[34445205, 34445270], [34446844, 34446885], [34455760, 34455891], [34490460, 34490532], [34502151, 34502278]]	[[34445205, 34445270], [34446844, 34446885], [34455760, 34455877]]
ENST00000559464	[[34455760, 34455891], [34470021, 34470200], [34491779, 34492041]]	[[34455760, 34455877]]
ENST00000561270	[[34434162, 34434572], [34437598, 34437692], [34440832, 34440951], [34444990, 34445251]]	[[34434539, 34434572], [34437598, 34437692], [34440832, 34440951], [34444990, 34445251]]
ENST00000558681	[[34434291, 34434572], [34437598, 34438056]]	None
ENST00000561371	[[34434869, 34435225], [34437598, 34437692], [34438961, 34439051], [34439400, 34439415]]	[[34435090, 34435225], [34437598, 34437692], [34438961, 34439051], [34439400, 34439415]]
ENST00000559760	[[34437164, 34437453], [34437598, 34437692], [34438961, 34439051], [34439400, 34439490], [34439580, 34439631], [34440832, 34440951]]	[[34437438, 34437453], [34437598, 34437692], [34438961, 34439051], [34439400, 34439490], [34439580, 34439631], [34440832, 34440951]]
ENST00000560308	[[34439403, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445270], [34446844, 34447032]]	None
ENST00000560310	[[34439430, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445270], [34446844, 34446885], [34446986, 34447032]]	[[34439430, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445140]]
ENST00000558473	[[34440743, 34440951], [34444990, 34445270], [34446844, 34446885], [34446986, 34447032]]	None
ENST00000560915	[[34500717, 34502270]]	None
NM_024713	[[34432874, 34434572], [34437598, 34437692], [34438961, 34439051], [34439400, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455891], [34502151, 34502297]]	[[34434539, 34434572], [34437598, 34437692], [34438961, 34439051], [34439400, 34439490], [34439580, 34439631], [34440832, 34440951], [34444990, 34445270], [34446844, 34446885], [34455760, 34455877]]

Promoter

Chrom	Start	End	Description
chr15	34447023	34447038	CAGE_peak_3_at_C15orf29_5end
chr15	34502197	34502207	CAGE_peak_4_at_C15orf29_5end
chr15	34502223	34502245	CAGE_peak_1_at_C15orf29_5end
chr15	34502287	34502318	CAGE_peak_2_at_C15orf29_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I034116	34116344	34120149	0.49	[{'connected_gene': 'KATNBL1', 'score': 11.13}, {'connected_gene': 'AVEN', 'score': 10.61}, {'connected_gene': 'PGBD4', 'score': 5.69}, {'connected_gene': 'PIR44117', 'score': 0.39}]
chr15	GH15I034208	34208534	34210729	2.01	[{'connected_gene': 'KATNBL1', 'score': 557.17}, {'connected_gene': 'NOP10', 'score': 15.59}, {'connected_gene': 'PIR44117', 'score': 0.15}]
chr15	GH15I034055	34055217	34057854	0.58	[{'connected_gene': 'AVEN', 'score': 12.37}, {'connected_gene': 'KATNBL1', 'score': 11.74}, {'connected_gene': 'EMC4', 'score': 10.94}, {'connected_gene': 'GC15M034069', 'score': 0.39}, {'connected_gene': 'ENSG00000259505', 'score': 0.2}, {'connected_gene': 'CHRM5', 'score': 0.17}]
chr15	GH15I034303	34303082	34307325	0.54	[{'connected_gene': 'NOP10', 'score': 30.71}, {'connected_gene': 'SLC12A6', 'score': 30.2}, {'connected_gene': 'NUTM1', 'score': 11.88}, {'connected_gene': 'KATNBL1', 'score': 10.7}, {'connected_gene': 'EMC4', 'score': 10.64}, {'connected_gene': 'GC15P034315', 'score': 0.44}, {'connected_gene': 'ENSG00000259468', 'score': 0.25}]
chr15	GH15I034246	34246018	34247411	0.38	[{'connected_gene': 'NOP10', 'score': 51.16}, {'connected_gene': 'SLC12A6', 'score': 11.89}, {'connected_gene': 'NUTM1', 'score': 11.88}, {'connected_gene': 'LPCAT4', 'score': 11.67}, {'connected_gene': 'KATNBL1', 'score': 11.64}, {'connected_gene': 'GOLGA8B', 'score': 4.39}, {'connected_gene': 'ENSG00000259468', 'score': 0.44}, {'connected_gene': 'EMC4', 'score': 0.34}]
chr15	GH15I034238	34238054	34242346	0.89	[{'connected_gene': 'NOP10', 'score': 37.71}, {'connected_gene': 'KATNBL1', 'score': 11.66}, {'connected_gene': 'SLC12A6', 'score': 11.5}, {'connected_gene': 'NUTM1', 'score': 11.5}, {'connected_gene': 'EMC4', 'score': 0.37}, {'connected_gene': 'ENSG00000259468', 'score': 0.37}]
chr15	GH15I034182	34182478	34183993	0.6	[{'connected_gene': 'NOP10', 'score': 17.71}, {'connected_gene': 'KATNBL1', 'score': 17.47}, {'connected_gene': 'AVEN', 'score': 10.79}, {'connected_gene': 'PIR44117', 'score': 0.18}]
chr15	GH15I034217	34217538	34218329	0.65	[{'connected_gene': 'NOP10', 'score': 12.84}, {'connected_gene': 'KATNBL1', 'score': 7.57}, {'connected_gene': 'EMC4', 'score': 0.44}]
chr15	GH15I034213	34213720	34215072	0.43	[{'connected_gene': 'NOP10', 'score': 32.47}, {'connected_gene': 'KATNBL1', 'score': 7.63}, {'connected_gene': 'EMC4', 'score': 0.39}]
chr15	GH15I034154	34154313	34155882	0.74	[{'connected_gene': 'NOP10', 'score': 20.94}, {'connected_gene': 'KATNBL1', 'score': 6.07}, {'connected_gene': 'PIR44117', 'score': 0.25}]
chr15	GH15I034161	34161417	34162423	0.59	[{'connected_gene': 'NOP10', 'score': 11.68}, {'connected_gene': 'KATNBL1', 'score': 11.46}, {'connected_gene': 'PIR44117', 'score': 0.22}]
chr15	GH15I034223	34223673	34226135	2.08	[{'connected_gene': 'EMC4', 'score': 550.77}, {'connected_gene': 'NOP10', 'score': 46.59}, {'connected_gene': 'AQR', 'score': 29.31}, {'connected_gene': 'HNRNPLP2', 'score': 24.12}, {'connected_gene': 'NUTM1', 'score': 21.32}, {'connected_gene': 'SLC12A6', 'score': 11.03}, {'connected_gene': 'KATNBL1', 'score': 4.81}]
chr15	GH15I034121	34121501	34125898	0.87	[{'connected_gene': 'PGBD4', 'score': 12.37}, {'connected_gene': 'EMC7', 'score': 12.37}, {'connected_gene': 'KATNBL1', 'score': 11.64}, {'connected_gene': 'NOP10', 'score': 5.34}, {'connected_gene': 'SLC12A6', 'score': 4.87}, {'connected_gene': 'GOLGA8B', 'score': 4.83}, {'connected_gene': 'PIR44117', 'score': 0.37}]
chr15	GH15I034100	34100408	34103037	2.05	[{'connected_gene': 'PGBD4', 'score': 557.14}, {'connected_gene': 'EMC7', 'score': 550.77}, {'connected_gene': 'AVEN', 'score': 20.26}, {'connected_gene': 'KATNBL1', 'score': 11.05}, {'connected_gene': 'HNRNPLP2', 'score': 11.04}, {'connected_gene': 'EMC4', 'score': 10.73}, {'connected_gene': 'RPL32P2', 'score': 0.37}]