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
ENST00000520821	[[109602043, 109602144], [109688380, 109688496], [109693794, 109694109]]	[[109693845, 109694109]]
ENST00000465301	[[109662284, 109662363], [109688380, 109688496], [109693794, 109697892], [109698429, 109699562]]	[[109693845, 109697892], [109698429, 109698549]]
ENST00000540313	[[109693792, 109697892], [109698429, 109699554]]	[[109693845, 109697892], [109698429, 109698549]]

Promoter

Chrom	Start	End	Description
chrX	109602017	109602026	CAGE_peak_3_at_RGAG1_5end
chrX	109602039	109602054	CAGE_peak_2_at_RGAG1_5end
chrX	109602067	109602082	CAGE_peak_1_at_RGAG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chrX	GH0XI110440	110440223	110440282	0.61	[{'connected_gene': 'AMMECR1', 'score': 550.77}, {'connected_gene': 'GC0XP110440', 'score': 550.77}, {'connected_gene': 'GC0XP110441', 'score': 550.77}, {'connected_gene': 'RTL9', 'score': 0.18}, {'connected_gene': 'TDGF1P3', 'score': 0.18}]
chrX	GH0XI110412	110412895	110413902	0.96	[{'connected_gene': 'AMMECR1', 'score': 13.53}, {'connected_gene': 'RTL9', 'score': 11.59}, {'connected_gene': 'GC0XP110441', 'score': 0.31}, {'connected_gene': 'GC0XM110384', 'score': 0.31}]
chrX	GH0XI110408	110408773	110411400	0.99	[{'connected_gene': 'AMMECR1', 'score': 13.51}, {'connected_gene': 'RTL9', 'score': 11.59}, {'connected_gene': 'GC0XM110384', 'score': 0.34}, {'connected_gene': 'GC0XP110441', 'score': 0.29}]
chrX	GH0XI110413	110413904	110417326	0.84	[{'connected_gene': 'AMMECR1', 'score': 13.56}, {'connected_gene': 'RTL9', 'score': 11.58}, {'connected_gene': 'GC0XP110441', 'score': 0.34}, {'connected_gene': 'GC0XM110384', 'score': 0.29}]
chrX	GH0XI110417	110417609	110421553	0.93	[{'connected_gene': 'AMMECR1', 'score': 0.34}, {'connected_gene': 'GC0XP110441', 'score': 0.34}, {'connected_gene': 'GC0XM110384', 'score': 0.29}, {'connected_gene': 'RTL9', 'score': 0.21}]
chrX	GH0XI110409	110408253	110408402	0.63	[{'connected_gene': 'AMMECR1', 'score': 12.35}, {'connected_gene': 'GC0XM110384', 'score': 0.34}, {'connected_gene': 'GC0XP110441', 'score': 0.29}, {'connected_gene': 'RTL9', 'score': 0.25}]
chrX	GH0XI110422	110422233	110422342	0.38	[{'connected_gene': 'AMMECR1', 'score': 0.37}, {'connected_gene': 'GC0XP110441', 'score': 0.37}, {'connected_gene': 'GC0XM110384', 'score': 0.28}, {'connected_gene': 'RTL9', 'score': 0.21}]
chrX	GH0XI110519	110519714	110520544	0.31	[{'connected_gene': 'TDGF1P3', 'score': 550.77}, {'connected_gene': 'RTL9', 'score': 18.74}, {'connected_gene': 'AMMECR1', 'score': 0.18}]
chrX	GH0XI110380	110380407	110385181	0.6	[{'connected_gene': 'RTL9', 'score': 13.16}, {'connected_gene': 'GC0XM110384', 'score': 0.77}, {'connected_gene': 'AMMECR1', 'score': 0.22}]
chrX	GH0XI110402	110401473	110405062	1.27	[{'connected_gene': 'RTL9', 'score': 12.19}, {'connected_gene': 'GC0XM110384', 'score': 0.37}, {'connected_gene': 'AMMECR1', 'score': 0.28}, {'connected_gene': 'GC0XP110441', 'score': 0.28}]
chrX	GH0XI110372	110372578	110372702	0.2	[{'connected_gene': 'RTL9', 'score': 0.39}, {'connected_gene': 'GC0XM110384', 'score': 0.39}, {'connected_gene': 'AMMECR1', 'score': 0.2}]
chrX	GH0XI110401	110401293	110401442	0.46	[{'connected_gene': 'RTL9', 'score': 12.19}, {'connected_gene': 'GC0XM110384', 'score': 0.37}, {'connected_gene': 'AMMECR1', 'score': 0.28}, {'connected_gene': 'GC0XP110441', 'score': 0.28}]
chrX	GH0XI110220	110220000	110220400	0.67	[{'connected_gene': 'RTL9', 'score': 11.54}, {'connected_gene': 'GC0XM110225', 'score': 0.77}, {'connected_gene': 'GC0XP110195', 'score': 0.31}, {'connected_gene': 'AMMECR1', 'score': 0.07}]
chrX	GH0XI110531	110531296	110533002	0.2	[{'connected_gene': 'RTL9', 'score': 18.13}, {'connected_gene': 'CHRDL1', 'score': 17.81}, {'connected_gene': 'TDGF1P3', 'score': 0.39}, {'connected_gene': 'LOC100131200', 'score': 0.15}]
chrX	GH0XI111099	111098853	111099082	0.56	[{'connected_gene': 'RTL9', 'score': 5.24}, {'connected_gene': 'GC0XM111095', 'score': 0.39}, {'connected_gene': 'GC0XP110985', 'score': 0.14}, {'connected_gene': 'PAK3', 'score': 0.1}]
chrX	GH0XI110020	110020831	110023680	1.07	[{'connected_gene': 'RTL9', 'score': 11.42}, {'connected_gene': 'TMEM164', 'score': 0.37}, {'connected_gene': 'GC0XP110056', 'score': 0.29}]
chrX	GH0XI110176	110176947	110183660	1.13	[{'connected_gene': 'RTL9', 'score': 11.81}, {'connected_gene': 'LOC101928589', 'score': 0.77}, {'connected_gene': 'GC0XP110194', 'score': 0.39}, {'connected_gene': 'TMEM164', 'score': 0.1}]
chrX	GH0XI110315	110315601	110319124	1.97	[{'connected_gene': 'LOC105373312', 'score': 550.77}, {'connected_gene': 'AMMECR1', 'score': 550.13}, {'connected_gene': 'RTL9', 'score': 11.92}, {'connected_gene': 'AMMECR1-IT1', 'score': 0.39}]
chrX	GH0XI110319	110319513	110319622	0.2	[{'connected_gene': 'LOC105373312', 'score': 550.77}, {'connected_gene': 'RTL9', 'score': 11.93}, {'connected_gene': 'GNG5P2', 'score': 0.31}, {'connected_gene': 'AMMECR1', 'score': 0.13}]
chrX	GH0XI110374	110374289	110375504	0.75	[{'connected_gene': 'GC0XM110384', 'score': 0.39}, {'connected_gene': 'RTL9', 'score': 0.37}, {'connected_gene': 'AMMECR1', 'score': 0.2}]
chrX	GH0XI110393	110393421	110398261	0.92	[{'connected_gene': 'GC0XM110384', 'score': 0.39}, {'connected_gene': 'RTL9', 'score': 0.28}, {'connected_gene': 'AMMECR1', 'score': 0.26}, {'connected_gene': 'GC0XP110441', 'score': 0.26}]