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
ENST00000478754	[[3192695, 3193279], [3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3218019], [3261069, 3261226], [3265485, 3265598], [3265687, 3265908], [3322627, 3322729], [3322991, 3323239], [3323381, 3324315]]	None
ENST00000398659	[[3192695, 3193279], [3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3218019], [3261069, 3261226], [3278109, 3278190], [3341787, 3341920], [3358320, 3358404], [3381418, 3381601]]	[[3193104, 3193279], [3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3218019], [3261069, 3261226], [3278109, 3278190], [3341787, 3341920], [3358320, 3358404], [3381418, 3381460]]
ENST00000382125	[[3192695, 3193279], [3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3218019], [3261069, 3261226], [3341787, 3341920], [3358320, 3358404], [3381418, 3381653]]	[[3193104, 3193279], [3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3218019], [3261069, 3261226], [3341787, 3341920], [3358320, 3358404], [3381418, 3381460]]
ENST00000455162	[[3193230, 3193279], [3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3218019], [3358320, 3358404], [3381418, 3381559]]	[[3217968, 3218019], [3358320, 3358404], [3381418, 3381460]]
ENST00000441271	[[3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3217940], [3381418, 3381571]]	[[3196184, 3196352], [3197769, 3197937], [3200651, 3200788], [3217919, 3217940], [3381418, 3381460]]
ENST00000463662	[[3197782, 3197937], [3200651, 3200788], [3217919, 3218019], [3341787, 3341920], [3358320, 3358404], [3381093, 3381241]]	None
ENST00000435721	[[3197853, 3197937], [3200651, 3200788], [3217919, 3218019], [3341787, 3341920], [3358320, 3358404], [3381418, 3381552]]	[[3200748, 3200788], [3217919, 3218019], [3341787, 3341920], [3358320, 3358404], [3381418, 3381460]]
ENST00000443925	[[3211574, 3212728], [3217919, 3218019], [3261069, 3261226], [3341787, 3341920], [3358320, 3358404], [3381418, 3381561]]	[[3212299, 3212728], [3217919, 3218019], [3261069, 3261226], [3341787, 3341920], [3358320, 3358404], [3381418, 3381460]]
ENST00000406835	[[3217919, 3218019], [3261069, 3261226], [3341787, 3341920], [3356976, 3357094], [3358320, 3358404], [3381418, 3381564]]	[[3341900, 3341920], [3356976, 3357094], [3358320, 3358404], [3381418, 3381460]]
ENST00000462515	[[3217956, 3218019], [3261069, 3261226], [3286240, 3286597]]	None
ENST00000444776	[[3261121, 3261226], [3322627, 3322729], [3341787, 3341920], [3358320, 3358404], [3381418, 3381588]]	[[3261121, 3261226], [3322627, 3322729], [3341787, 3341920], [3358320, 3358404], [3381418, 3381460]]
ENST00000496433	[[3193095, 3193279], [3196184, 3196352], [3197769, 3198162]]	None
ENST00000482570	[[3197853, 3197937], [3200651, 3200788], [3217919, 3218019], [3261069, 3261330]]	None
ENST00000470625	[[3200681, 3200788], [3217919, 3218223]]	None

Promoter

Chrom	Start	End	Description
chr2	3381575	3381635	CAGE_peak_1_at_TSSC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I003276	3276897	3277101	0.39	[{'connected_gene': 'EIPR1', 'score': 6.44}, {'connected_gene': 'GC02M003270', 'score': 0.77}, {'connected_gene': 'EIPR1-IT1', 'score': 0.34}]
chr2	GH02I003264	3264425	3267078	0.86	[{'connected_gene': 'EIPR1', 'score': 7.0}, {'connected_gene': 'GC02M003270', 'score': 0.44}, {'connected_gene': 'PIR42894', 'score': 0.39}]
chr2	GH02I003221	3221827	3224960	1.36	[{'connected_gene': 'EIPR1', 'score': 6.06}, {'connected_gene': 'ENSG00000235078', 'score': 4.34}, {'connected_gene': 'GC02M003244', 'score': 0.31}, {'connected_gene': 'GC02M003097', 'score': 0.23}]
chr2	GH02I003302	3302974	3304239	1.15	[{'connected_gene': 'RPS7', 'score': 9.69}, {'connected_gene': 'EIPR1-IT1', 'score': 0.77}, {'connected_gene': 'GC02M003336', 'score': 0.26}, {'connected_gene': 'EIPR1', 'score': 0.19}]
chr2	GH02I003376	3376722	3381296	2.31	[{'connected_gene': 'TRAPPC12', 'score': 571.53}, {'connected_gene': 'EIPR1', 'score': 550.77}, {'connected_gene': 'TRAPPC12-AS1', 'score': 8.12}]
chr2	GH02I003368	3368043	3369730	1.04	[{'connected_gene': 'TRAPPC12', 'score': 14.51}, {'connected_gene': 'EIPR1', 'score': 0.44}, {'connected_gene': 'GC02M003336', 'score': 0.34}]
chr2	GH02I003362	3362801	3363000	0.38	[{'connected_gene': 'TRAPPC12', 'score': 9.55}, {'connected_gene': 'EIPR1', 'score': 0.39}, {'connected_gene': 'GC02M003336', 'score': 0.37}]
chr2	GH02I003356	3356601	3357801	0.38	[{'connected_gene': 'TRAPPC12', 'score': 9.46}, {'connected_gene': 'GC02M003336', 'score': 0.39}, {'connected_gene': 'EIPR1', 'score': 0.34}]
chr2	GH02I003334	3334387	3336132	0.31	[{'connected_gene': 'TRAPPC12', 'score': 10.29}, {'connected_gene': 'GC02M003336', 'score': 0.39}, {'connected_gene': 'EIPR1-IT1', 'score': 0.29}, {'connected_gene': 'EIPR1', 'score': 0.26}]
chr2	GH02I003239	3239370	3239519	0.31	[{'connected_gene': 'GC02M003244', 'score': 0.39}, {'connected_gene': 'GC02M003097', 'score': 0.2}, {'connected_gene': 'EIPR1', 'score': 0.12}]
chr2	GH02I003241	3241971	3243200	0.74	[{'connected_gene': 'GC02M003244', 'score': 0.44}, {'connected_gene': 'GC02M003097', 'score': 0.19}, {'connected_gene': 'EIPR1', 'score': 0.12}]
chr2	GH02I003198	3198190	3198359	0.46	[{'connected_gene': 'GC02M003097', 'score': 0.31}, {'connected_gene': 'GC02M003244', 'score': 0.23}, {'connected_gene': 'EIPR1', 'score': 0.1}]
chr2	GH02I003253	3253772	3255290	0.77	[{'connected_gene': 'PIR42894', 'score': 550.77}, {'connected_gene': 'EIPR1', 'score': 7.19}, {'connected_gene': 'GC02M003270', 'score': 0.37}]
chr2	GH02I003348	3348824	3348967	0.34	[{'connected_gene': 'GC02M003336', 'score': 0.77}, {'connected_gene': 'EIPR1', 'score': 0.31}]
chr2	GH02I003196	3195801	3196000	0.38	[{'connected_gene': 'GC02M003097', 'score': 0.31}, {'connected_gene': 'GC02M003244', 'score': 0.23}, {'connected_gene': 'EIPR1', 'score': 0.09}]
chr2	GH02I003357	3356136	3356398	0.22	[{'connected_gene': 'GC02M003336', 'score': 0.44}, {'connected_gene': 'EIPR1', 'score': 0.34}]
chr2	GH02I003195	3195070	3195297	0.35	[{'connected_gene': 'GC02M003097', 'score': 0.34}, {'connected_gene': 'GC02M003244', 'score': 0.23}, {'connected_gene': 'EIPR1', 'score': 0.09}]