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
ENST00000296252	[[185224049, 185226665], [185229311, 185229485], [185232197, 185232309], [185234854, 185234950], [185236929, 185237097], [185241858, 185241948], [185245271, 185245373], [185251358, 185251467], [185252552, 185252920], [185270210, 185270401]]	[[185226577, 185226665], [185229311, 185229485], [185232197, 185232309], [185234854, 185234950], [185236929, 185237097], [185241858, 185241948], [185245271, 185245373], [185251358, 185251467], [185252552, 185252920], [185270210, 185270259]]
ENST00000424591	[[185225853, 185226665], [185229311, 185229485], [185232197, 185232309], [185234854, 185234950], [185236929, 185237097], [185241858, 185241948], [185251358, 185251467], [185252552, 185252920], [185270210, 185270346]]	[[185226577, 185226665], [185229311, 185229485], [185232197, 185232309], [185234854, 185234950], [185236929, 185237097], [185241858, 185241948], [185251358, 185251467], [185252552, 185252920], [185270210, 185270259]]
ENST00000435679	[[185226344, 185226665], [185229311, 185229384], [185232197, 185232309], [185234854, 185234869]]	[[185226644, 185226665], [185229311, 185229384], [185232197, 185232309], [185234854, 185234869]]
ENST00000452897	[[185236931, 185237097], [185251358, 185251448]]	[[185236931, 185237097], [185251358, 185251448]]
ENST00000429510	[[185251463, 185251467], [185252552, 185252920], [185264664, 185264760], [185270210, 185270298]]	[[185264665, 185264760], [185270210, 185270259]]
NM_139248	[[185225569, 185226665], [185229311, 185229485], [185232197, 185232309], [185234854, 185234950], [185236929, 185237097], [185241858, 185241948], [185245271, 185245373], [185251358, 185251467], [185252552, 185252920], [185270210, 185270369]]	[[185226577, 185226665], [185229311, 185229485], [185232197, 185232309], [185234854, 185234950], [185236929, 185237097], [185241858, 185241948], [185245271, 185245373], [185251358, 185251467], [185252552, 185252920], [185270210, 185270259]]

Promoter

Chrom	Start	End	Description
chr3	185270286	185270303	CAGE_peak_4_at_LIPH_5end
chr3	185270305	185270319	CAGE_peak_5_at_LIPH_5end
chr3	185270325	185270338	CAGE_peak_3_at_LIPH_5end
chr3	185270342	185270382	CAGE_peak_1_at_LIPH_5end
chr3	185270383	185270406	CAGE_peak_2_at_LIPH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I185539	185539654	185540357	0.31	[{'connected_gene': 'TMEM41A', 'score': 11.33}, {'connected_gene': 'LIPH', 'score': 0.39}, {'connected_gene': 'LOC105374254', 'score': 0.26}]
chr3	GH03I185502	185502454	185504342	1	[{'connected_gene': 'MAGEF1', 'score': 10.31}, {'connected_gene': 'C3orf70', 'score': 10.13}, {'connected_gene': 'LOC105374254', 'score': 0.77}, {'connected_gene': 'LIPH', 'score': 0.25}]
chr3	GH03I185536	185536741	185538637	1.42	[{'connected_gene': 'SENP2', 'score': 11.52}, {'connected_gene': 'TMEM41A', 'score': 11.34}, {'connected_gene': 'LIPH', 'score': 0.39}, {'connected_gene': 'LOC105374254', 'score': 0.28}]
chr3	GH03I185543	185543537	185548261	0.98	[{'connected_gene': 'SENP2', 'score': 11.91}, {'connected_gene': 'LIPH', 'score': 6.35}, {'connected_gene': 'LOC105374254', 'score': 0.25}]
chr3	GH03I185572	185572333	185572482	0.71	[{'connected_gene': 'SENP2', 'score': 0.39}, {'connected_gene': 'LIPH', 'score': 0.37}]
chr3	GH03I185575	185575015	185575801	1.26	[{'connected_gene': 'SENP2', 'score': 0.44}, {'connected_gene': 'LIPH', 'score': 0.34}]
chr3	GH03I185551	185551252	185559682	1.91	[{'connected_gene': 'LIPH', 'score': 556.72}, {'connected_gene': 'SENP2', 'score': 11.8}, {'connected_gene': 'TMEM41A', 'score': 11.71}, {'connected_gene': 'VPS8', 'score': 5.73}]
chr3	GH03I185561	185561201	185562400	0.83	[{'connected_gene': 'LIPH', 'score': 0.44}, {'connected_gene': 'SENP2', 'score': 0.34}]
chr3	GH03I185548	185548562	185551247	1.18	[{'connected_gene': 'LIPH', 'score': 6.66}, {'connected_gene': 'LOC105374254', 'score': 0.23}]
chr3	GH03I185535	185535228	185535631	0.2	[{'connected_gene': 'LIPH', 'score': 0.37}, {'connected_gene': 'LOC105374254', 'score': 0.28}]
chr3	GH03I185527	185527520	185528012	0.71	[{'connected_gene': 'LIPH', 'score': 0.34}, {'connected_gene': 'LOC105374254', 'score': 0.31}]
chr3	GH03I185511	185511280	185512449	0.51	[{'connected_gene': 'LIPH', 'score': 12.14}, {'connected_gene': 'LOC105374254', 'score': 0.39}]
chr3	GH03I185517	185517538	185518379	0.4	[{'connected_gene': 'LIPH', 'score': 12.17}, {'connected_gene': 'LOC105374254', 'score': 0.37}]
chr3	GH03I184800	184800132	184801122	0.2	[{'connected_gene': 'LINC01840', 'score': 11.39}, {'connected_gene': 'EPHB3', 'score': 11.39}, {'connected_gene': 'LIPH', 'score': 6.18}, {'connected_gene': 'THPO', 'score': 5.23}, {'connected_gene': 'VPS8', 'score': 0.39}, {'connected_gene': 'LOC105374253', 'score': 0.31}]