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
ENST00000260605	[[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037149]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
ENST00000496980	[[44001187, 44001285], [44003920, 44004038], [44008766, 44008903], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860]]	[[44001277, 44001285], [44003920, 44004038], [44008766, 44008903], [44010658, 44010680]]
ENST00000406852	[[44001187, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44022318]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021881]]
ENST00000479242	[[44001187, 44001285], [44003920, 44004038], [44010658, 44010693], [44016771, 44016860], [44021595, 44021782], [44023028, 44023069]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44016771, 44016829]]
ENST00000443170	[[44001187, 44001285], [44003920, 44004038], [44010658, 44010693], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036915]]	[[44021653, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
ENST00000398823	[[44001202, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44019814, 44022322]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44019814, 44019929]]
ENST00000489222	[[44001202, 44001284], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056]]	None
ENST00000605786	[[44001220, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037136]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
ENST00000462426	[[44001224, 44001285], [44002847, 44002927], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023098]]	[[44001277, 44001285], [44002847, 44002927], [44003920, 44004038], [44010658, 44010680]]
ENST00000378587	[[44003961, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032694]]	[[44003961, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032397]]
ENST00000482738	[[44028409, 44028848], [44031780, 44031878], [44032292, 44032316]]	None
NM_015522	[[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44022318]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021881]]
NM_016008	[[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037149]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
NM_001193464	[[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037149]]	[[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]

Promoter

Chrom	Start	End	Description
chr2	44001172	44001230	CAGE_peak_1_at_DYNC2LI1_5end
chr2	44001231	44001242	CAGE_peak_2_at_DYNC2LI1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I043805	43805764	43809768	1.11	[{'connected_gene': 'ABCG5', 'score': 17.24}, {'connected_gene': 'ABCG8', 'score': 11.56}, {'connected_gene': 'DYNC2LI1', 'score': 11.32}, {'connected_gene': 'RN7SKP66', 'score': 11.3}, {'connected_gene': 'PLEKHH2', 'score': 7.74}, {'connected_gene': 'LOC105374571', 'score': 0.29}]
chr2	GH02I043818	43818122	43820533	0.85	[{'connected_gene': 'DYNC2LI1', 'score': 8.01}, {'connected_gene': 'ABCG8', 'score': 0.44}, {'connected_gene': 'ABCG5', 'score': 0.37}, {'connected_gene': 'LOC105374571', 'score': 0.25}]
chr2	GH02I043104	43104602	43111363	1.48	[{'connected_gene': 'DYNC2LI1', 'score': 9.92}, {'connected_gene': 'OXER1', 'score': 5.9}, {'connected_gene': 'THADA', 'score': 4.65}, {'connected_gene': 'LOC105374570', 'score': 0.37}, {'connected_gene': 'GC02M043092', 'score': 0.37}, {'connected_gene': 'RNU6-242P', 'score': 0.37}, {'connected_gene': 'LINC02580', 'score': 0.23}, {'connected_gene': 'GC02P042660', 'score': 0.05}]
chr2	GH02I043736	43736393	43738570	0.57	[{'connected_gene': 'DYNC2LI1', 'score': 16.9}, {'connected_gene': 'PLEKHH2', 'score': 15.85}, {'connected_gene': 'RN7SKP66', 'score': 11.08}, {'connected_gene': 'LOC100421122', 'score': 0.22}]
chr2	GH02I043773	43773442	43775104	2.02	[{'connected_gene': 'DYNC2LI1', 'score': 560.46}, {'connected_gene': 'RN7SKP66', 'score': 550.77}, {'connected_gene': 'LOC105374571', 'score': 550.77}, {'connected_gene': 'PLEKHH2', 'score': 7.61}, {'connected_gene': 'ABCG8', 'score': 0.23}]
chr2	GH02I043758	43758214	43760209	0.77	[{'connected_gene': 'PLEKHH2', 'score': 10.24}, {'connected_gene': 'DYNC2LI1', 'score': 5.44}, {'connected_gene': 'RN7SKP66', 'score': 0.39}, {'connected_gene': 'LOC100421122', 'score': 0.18}]
chr2	GH02I043724	43724802	43726112	0.96	[{'connected_gene': 'PLEKHH2', 'score': 18.48}, {'connected_gene': 'DYNC2LI1', 'score': 5.61}, {'connected_gene': 'LOC100421122', 'score': 0.26}, {'connected_gene': 'RN7SKP66', 'score': 0.25}]
chr2	GH02I043715	43715271	43715555	0.51	[{'connected_gene': 'PLEKHH2', 'score': 28.64}, {'connected_gene': 'RN7SKP66', 'score': 10.52}, {'connected_gene': 'DYNC2LI1', 'score': 10.52}, {'connected_gene': 'LOC100421122', 'score': 0.29}]
chr2	GH02I043706	43706783	43708137	0.6	[{'connected_gene': 'PLEKHH2', 'score': 10.75}, {'connected_gene': 'RN7SKP66', 'score': 10.35}, {'connected_gene': 'DYNC2LI1', 'score': 10.35}, {'connected_gene': 'LOC100421122', 'score': 0.31}]
chr2	GH02I043048	43048816	43052940	1.47	[{'connected_gene': 'RNU6-1048P', 'score': 14.39}, {'connected_gene': 'PLEKHH2', 'score': 12.58}, {'connected_gene': 'THADA', 'score': 10.89}, {'connected_gene': 'DYNC2LI1', 'score': 9.91}, {'connected_gene': 'ENSG00000233978', 'score': 0.44}, {'connected_gene': 'PIR48377', 'score': 0.39}, {'connected_gene': 'GC02P042853', 'score': 0.08}, {'connected_gene': 'GC02P042660', 'score': 0.05}]
chr2	GH02I043209	43209975	43211970	1.72	[{'connected_gene': 'RNU6-1048P', 'score': 41.41}, {'connected_gene': 'PLEKHH2', 'score': 38.21}, {'connected_gene': 'THADA', 'score': 25.82}, {'connected_gene': 'OXER1', 'score': 13.08}, {'connected_gene': 'DYNC2LI1', 'score': 12.22}, {'connected_gene': 'ZFP36L2', 'score': 11.09}, {'connected_gene': 'C1GALT1C1L', 'score': 9.7}, {'connected_gene': 'LINC02580', 'score': 0.23}, {'connected_gene': 'GC02P042660', 'score': 0.03}]
chr2	GH02I043844	43844018	43845375	0.64	[{'connected_gene': 'LOC102725159', 'score': 550.77}, {'connected_gene': 'DYNC2LI1', 'score': 20.28}, {'connected_gene': 'RN7SKP66', 'score': 10.2}, {'connected_gene': 'ABCG5', 'score': 4.85}, {'connected_gene': 'ABCG8', 'score': 0.37}, {'connected_gene': 'GC02P043893', 'score': 0.25}]
chr2	GH02I043454	43454509	43462575	1.35	[{'connected_gene': 'ENSG00000234936', 'score': 16.45}, {'connected_gene': 'ZFP36L2', 'score': 11.63}, {'connected_gene': 'RNU6-958P', 'score': 10.99}, {'connected_gene': 'DYNC2LI1', 'score': 5.3}, {'connected_gene': 'PLEKHH2', 'score': 5.09}, {'connected_gene': 'THADA', 'score': 5.0}, {'connected_gene': 'RN7SL531P', 'score': 0.29}]
chr2	GH02I043396	43396928	43400799	0.99	[{'connected_gene': 'ENSG00000234936', 'score': 6.64}, {'connected_gene': 'DYNC2LI1', 'score': 4.74}, {'connected_gene': 'RNU6-958P', 'score': 0.44}, {'connected_gene': 'THADA', 'score': 0.08}, {'connected_gene': 'GC02P042660', 'score': 0.03}]