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
ENST00000412167	[[55524084, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55605177]]	[[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]
ENST00000288135	[[55524084, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55606881]]	[[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]
ENST00000514582	[[55524105, 55524248], [55561677, 55562072]]	None
ENST00000512959	[[55595457, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599567]]	None
NM_001093772	[[55524094, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55606881]]	[[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]
NM_000222	[[55524094, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55606881]]	[[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]

Promoter

Chrom	Start	End	Description
chr4	55523948	55523989	CAGE_peak_3_at_KIT_5end
chr4	55524101	55524110	CAGE_peak_2_at_KIT_5end
chr4	55524117	55524135	CAGE_peak_1_at_KIT_5end
chr4	55592961	55592964	CAGE_peak_4_at_KIT_5end
chr4	55595497	55595514	CAGE_peak_5_at_KIT_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I054715	54715366	54715512	0.22	[{'connected_gene': 'KIT', 'score': 1.72}, {'connected_gene': 'LOC105377657', 'score': 0.26}]
chr4	GH04I054660	54660516	54662445	1.01	[{'connected_gene': 'KIT', 'score': 31.17}, {'connected_gene': 'LOC105377657', 'score': 0.16}]
chr4	GH04I054687	54687529	54688873	0.66	[{'connected_gene': 'KIT', 'score': 0.29}, {'connected_gene': 'LOC105377657', 'score': 0.2}]
chr4	GH04I054658	54657314	54660399	1.9	[{'connected_gene': 'KIT', 'score': 550.77}, {'connected_gene': 'LOC105377657', 'score': 0.15}]
chr4	GH04I054667	54667639	54668832	0.43	[{'connected_gene': 'KIT', 'score': 0.39}, {'connected_gene': 'LOC105377657', 'score': 0.17}]
chr4	GH04I054711	54711980	54712276	0.22	[{'connected_gene': 'KIT', 'score': 3.35}, {'connected_gene': 'LOC105377657', 'score': 0.26}]
chr4	GH04I054683	54683628	54684096	0.66	[{'connected_gene': 'KIT', 'score': 0.31}, {'connected_gene': 'LOC105377657', 'score': 0.19}]
chr4	GH04I054571	54571083	54572019	1.23	[{'connected_gene': 'KIT', 'score': 37.87}, {'connected_gene': 'GC04P054597', 'score': 0.31}, {'connected_gene': 'ENSG00000251264', 'score': 0.13}]
chr4	GH04I054657	54657292	54657303	0.31	[{'connected_gene': 'KIT', 'score': 550.77}, {'connected_gene': 'GC04P054635', 'score': 0.34}, {'connected_gene': 'PIR51098', 'score': 0.34}]
chr4	GH04I054396	54396102	54396348	0.45	[{'connected_gene': 'KIT', 'score': 16.0}, {'connected_gene': 'ENSG00000248518', 'score': 0.34}, {'connected_gene': 'ENSG00000251264', 'score': 0.23}]
chr4	GH04I054588	54588375	54588686	1.17	[{'connected_gene': 'KIT', 'score': 22.2}, {'connected_gene': 'GC04P054597', 'score': 0.44}, {'connected_gene': 'ENSG00000251264', 'score': 0.11}]
chr4	GH04I054549	54549173	54549539	0.59	[{'connected_gene': 'KIT', 'score': 31.54}, {'connected_gene': 'GC04P054597', 'score': 0.25}, {'connected_gene': 'ENSG00000251264', 'score': 0.15}]
chr4	GH04I054542	54542515	54543443	1.16	[{'connected_gene': 'KIT', 'score': 16.89}, {'connected_gene': 'GC04P054597', 'score': 0.23}, {'connected_gene': 'ENSG00000251264', 'score': 0.15}]
chr4	GH04I054384	54384704	54384856	0.44	[{'connected_gene': 'KIT', 'score': 2.16}, {'connected_gene': 'ENSG00000248518', 'score': 0.44}, {'connected_gene': 'ENSG00000251264', 'score': 0.21}]
chr4	GH04I054585	54585733	54587112	1.05	[{'connected_gene': 'KIT', 'score': 23.86}, {'connected_gene': 'GC04P054597', 'score': 0.39}, {'connected_gene': 'ENSG00000251264', 'score': 0.12}]
chr4	GH04I054539	54539201	54540200	1.19	[{'connected_gene': 'KIT', 'score': 24.59}, {'connected_gene': 'GC04P054597', 'score': 0.22}, {'connected_gene': 'ENSG00000251264', 'score': 0.16}]
chr4	GH04I054393	54393333	54393592	0.22	[{'connected_gene': 'KIT', 'score': 15.75}, {'connected_gene': 'ENSG00000248518', 'score': 0.37}, {'connected_gene': 'ENSG00000251264', 'score': 0.23}]
chr4	GH04I054400	54400845	54401169	0.48	[{'connected_gene': 'KIT', 'score': 16.19}, {'connected_gene': 'ENSG00000248518', 'score': 0.31}, {'connected_gene': 'ENSG00000251264', 'score': 0.25}]
chr4	GH04I054708	54708290	54710591	0.98	[{'connected_gene': 'LOC105377657', 'score': 0.25}, {'connected_gene': 'KIT', 'score': 0.23}]
chr4	GH04I054755	54755453	54756476	0.52	[{'connected_gene': 'LOC105377657', 'score': 550.77}, {'connected_gene': 'KIT', 'score': 0.15}]
chr4	GH04I054742	54742801	54743200	0.2	[{'connected_gene': 'LOC105377657', 'score': 0.39}, {'connected_gene': 'KIT', 'score': 0.17}]
chr4	GH04I054635	54635286	54635605	0.37	[{'connected_gene': 'GC04P054635', 'score': 550.77}, {'connected_gene': 'PIR51098', 'score': 550.77}, {'connected_gene': 'KIT', 'score': 17.83}]