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
ENST00000498485	[[127115744, 127115988], [127119042, 127119194], [127146876, 127146935], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177391, 127177570]]	None
ENST00000259457	[[127115744, 127115988], [127119042, 127119194], [127146876, 127146935], [127167595, 127167711], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177718]]	[[127115876, 127115988], [127119042, 127119194], [127146876, 127146935], [127167595, 127167711], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177704]]
ENST00000536392	[[127118677, 127119194], [127146876, 127146935], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177721]]	[[127146901, 127146935], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177704]]
ENST00000474081	[[127145874, 127146229], [127146355, 127146487], [127146876, 127146935]]	None
ENST00000478817	[[127145900, 127146229], [127146876, 127146935]]	None
ENST00000441097	[[127159038, 127159126], [127160719, 127160751], [127167595, 127167711], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177723]]	[[127159038, 127159126], [127160719, 127160751], [127167595, 127167711], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177704]]
ENST00000466951	[[127174678, 127174771], [127176186, 127176284], [127177120, 127177214], [127177409, 127177586]]	None
NM_002799	[[127115743, 127115988], [127119042, 127119194], [127146876, 127146935], [127167595, 127167711], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177752]]	[[127115876, 127115988], [127119042, 127119194], [127146876, 127146935], [127167595, 127167711], [127174630, 127174771], [127176186, 127176284], [127177120, 127177214], [127177642, 127177704]]

Promoter

Chrom	Start	End	Description
chr9	127177703	127177734	CAGE_peak_1_at_PSMB7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I124414	124414041	124416091	2.28	[{'connected_gene': 'PSMB7', 'score': 560.8}, {'connected_gene': 'GAPVD1', 'score': 40.49}, {'connected_gene': 'GOLGA1', 'score': 30.84}, {'connected_gene': 'PRPS1P2', 'score': 11.81}, {'connected_gene': 'NEK6', 'score': 11.57}, {'connected_gene': 'GC09P124378', 'score': 0.28}]
chr9	GH09I124447	124447022	124447171	0.43	[{'connected_gene': 'ADGRD2', 'score': 0.77}, {'connected_gene': 'LOC105376270', 'score': 0.44}, {'connected_gene': 'PSMB7', 'score': 0.29}]
chr9	GH09I124449	124449660	124452106	0.88	[{'connected_gene': 'ADGRD2', 'score': 554.78}, {'connected_gene': 'LOC105376270', 'score': 550.77}, {'connected_gene': 'PSMB7', 'score': 0.28}]
chr9	GH09I124419	124419642	124420001	0.83	[{'connected_gene': 'NR5A1', 'score': 10.99}, {'connected_gene': 'ENSG00000231149', 'score': 10.98}, {'connected_gene': 'PSMB7', 'score': 0.77}, {'connected_gene': 'ADGRD2', 'score': 0.29}]
chr9	GH09I124410	124410408	124413147	0.97	[{'connected_gene': 'NR5A1', 'score': 10.79}, {'connected_gene': 'ENSG00000231149', 'score': 10.78}, {'connected_gene': 'NEK6', 'score': 10.66}, {'connected_gene': 'PSMB7', 'score': 5.13}, {'connected_gene': 'GC09P124378', 'score': 0.29}]
chr9	GH09I124390	124390348	124396308	1.63	[{'connected_gene': 'NEK6', 'score': 11.85}, {'connected_gene': 'PSMB7', 'score': 11.54}, {'connected_gene': 'NR5A1', 'score': 9.99}, {'connected_gene': 'ENSG00000231149', 'score': 9.98}, {'connected_gene': 'ENSG00000231227', 'score': 9.7}, {'connected_gene': 'LOC100505588', 'score': 9.7}, {'connected_gene': 'LHX2', 'score': 9.7}, {'connected_gene': 'DENND1A', 'score': 2.12}, {'connected_gene': 'GC09P124378', 'score': 0.39}]
chr9	GH09I124385	124385538	124387897	1.56	[{'connected_gene': 'NEK6', 'score': 11.07}, {'connected_gene': 'PSMB7', 'score': 10.87}, {'connected_gene': 'ENSG00000231149', 'score': 10.08}, {'connected_gene': 'NR5A1', 'score': 10.08}, {'connected_gene': 'GC09P124378', 'score': 0.44}]
chr9	GH09I124340	124340830	124345669	0.86	[{'connected_gene': 'NEK6', 'score': 15.58}, {'connected_gene': 'PSMB7', 'score': 5.28}, {'connected_gene': 'PIR33879', 'score': 0.77}, {'connected_gene': 'LOC105376269', 'score': 0.22}]
chr9	GH09I124360	124360941	124361966	0.6	[{'connected_gene': 'NEK6', 'score': 8.04}, {'connected_gene': 'PIR47713', 'score': 0.44}, {'connected_gene': 'GC09P124375', 'score': 0.39}, {'connected_gene': 'PSMB7', 'score': 0.23}]
chr9	GH09I124398	124398082	124401397	0.86	[{'connected_gene': 'NEK6', 'score': 11.27}, {'connected_gene': 'PSMB7', 'score': 0.37}, {'connected_gene': 'GC09P124378', 'score': 0.34}]
chr9	GH09I124387	124387944	124389836	1.23	[{'connected_gene': 'NEK6', 'score': 11.49}, {'connected_gene': 'ENSG00000231149', 'score': 9.98}, {'connected_gene': 'NR5A1', 'score': 9.98}, {'connected_gene': 'GC09P124378', 'score': 0.39}, {'connected_gene': 'PSMB7', 'score': 0.31}]
chr9	GH09I123933	123933021	123934487	1.32	[{'connected_gene': 'LOC105376268', 'score': 10.69}, {'connected_gene': 'DENND1A', 'score': 6.53}, {'connected_gene': 'PSMB7', 'score': 1.22}, {'connected_gene': 'LOC105376267', 'score': 0.2}]
chr9	GH09I124381	124381360	124381958	0.97	[{'connected_gene': 'GC09P124378', 'score': 0.77}, {'connected_gene': 'PSMB7', 'score': 0.29}]
chr9	GH09I124378	124378053	124378365	0.51	[{'connected_gene': 'GC09P124378', 'score': 550.77}, {'connected_gene': 'NEK6', 'score': 10.07}, {'connected_gene': 'GC09P124375', 'score': 0.77}, {'connected_gene': 'PSMB7', 'score': 0.28}]
chr9	GH09I124357	124357658	124358431	0.43	[{'connected_gene': 'PIR47713', 'score': 0.77}, {'connected_gene': 'LOC100129034', 'score': 0.77}, {'connected_gene': 'GC09P124375', 'score': 0.37}, {'connected_gene': 'PSMB7', 'score': 0.22}, {'connected_gene': 'NEK6', 'score': 0.15}]
chr9	GH09I124352	124352148	124355613	0.38	[{'connected_gene': 'PIR52389', 'score': 550.77}, {'connected_gene': 'PIR47713', 'score': 550.77}, {'connected_gene': 'LOC100129034', 'score': 550.77}, {'connected_gene': 'NEK6', 'score': 11.99}, {'connected_gene': 'PSMB7', 'score': 6.79}]