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
ENST00000538309	[[19197925, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19217187, 19217385]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215924]]
ENST00000538839	[[19197925, 19199451], [19200956, 19201075], [19201875, 19201997], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229022]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229017]]
ENST00000290597	[[19197925, 19198284], [19199297, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229047]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229017]]
ENST00000375341	[[19197925, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229275]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229017]]
ENST00000454547	[[19209053, 19209166], [19209617, 19209692], [19209772, 19209922], [19211966, 19212113]]	None
ENST00000432718	[[19209604, 19209692], [19209772, 19209922], [19211966, 19212122], [19215855, 19215948], [19216505, 19216599], [19228955, 19229218]]	[[19209604, 19209692], [19209772, 19209922], [19211966, 19212122], [19215855, 19215948], [19216505, 19216599], [19228955, 19229017]]
NM_001161504	[[19197923, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19217187, 19217385]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215924]]
NM_003748	[[19197923, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229293]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229017]]
NM_170726	[[19197923, 19198284], [19199297, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229293]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19202808, 19202961], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229017]]
NM_001319218	[[19197923, 19199451], [19200956, 19201075], [19201875, 19201997], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229293]]	[[19199338, 19199451], [19200956, 19201075], [19201875, 19201997], [19203701, 19203749], [19203909, 19204106], [19205793, 19205867], [19208193, 19208381], [19209617, 19209692], [19209772, 19209922], [19211966, 19212122], [19212957, 19213005], [19215855, 19215948], [19216505, 19216599], [19228955, 19229017]]

Promoter

Chrom	Start	End	Description
chr1	19212524	19212526	CAGE_peak_6_at_ALDH4A1_5end
chr1	19229014	19229056	CAGE_peak_1_at_ALDH4A1_5end
chr1	19229066	19229084	CAGE_peak_2_at_ALDH4A1_5end
chr1	19229226	19229237	CAGE_peak_4_at_ALDH4A1_5end
chr1	19229248	19229270	CAGE_peak_3_at_ALDH4A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I018890	18890433	18893565	1.27	[{'connected_gene': 'ALDH4A1', 'score': 558.78}, {'connected_gene': 'TAS1R2', 'score': 11.03}, {'connected_gene': 'MIR1290', 'score': 0.44}, {'connected_gene': 'MIR4695', 'score': 0.44}, {'connected_gene': 'ENSG00000255275', 'score': 0.31}]
chr1	GH01I018901	18901028	18904676	2.29	[{'connected_gene': 'ALDH4A1', 'score': 559.91}, {'connected_gene': 'UBR4', 'score': 21.58}, {'connected_gene': 'IFFO2', 'score': 11.58}, {'connected_gene': 'ENSG00000255275', 'score': 0.37}]
chr1	GH01I018912	18912687	18913973	1.26	[{'connected_gene': 'ALDH4A1', 'score': 7.84}, {'connected_gene': 'IFFO2', 'score': 5.69}, {'connected_gene': 'ENSG00000255275', 'score': 0.44}]
chr1	GH01I018906	18906860	18909676	1.35	[{'connected_gene': 'ALDH4A1', 'score': 9.29}, {'connected_gene': 'ENSG00000255275', 'score': 0.39}, {'connected_gene': 'IFFO2', 'score': 0.25}]
chr1	GH01I018972	18972647	18972756	0.59	[{'connected_gene': 'ALDH4A1', 'score': 11.36}, {'connected_gene': 'MIR1290', 'score': 11.33}, {'connected_gene': 'TAS1R2', 'score': 10.38}, {'connected_gene': 'EMC1', 'score': 7.19}, {'connected_gene': 'IFFO2', 'score': 0.37}, {'connected_gene': 'GC01P019006', 'score': 0.29}, {'connected_gene': 'LOC105376815', 'score': 0.18}]
chr1	GH01I018894	18894353	18895484	0.65	[{'connected_gene': 'ALDH4A1', 'score': 7.58}, {'connected_gene': 'MIR1290', 'score': 0.77}, {'connected_gene': 'MIR4695', 'score': 0.39}, {'connected_gene': 'ENSG00000255275', 'score': 0.31}]
chr1	GH01I018899	18899311	18899965	0.54	[{'connected_gene': 'ALDH4A1', 'score': 9.41}, {'connected_gene': 'MIR1290', 'score': 0.77}, {'connected_gene': 'ENSG00000255275', 'score': 0.34}]
chr1	GH01I018885	18885669	18886823	0.2	[{'connected_gene': 'TAS1R2', 'score': 11.66}, {'connected_gene': 'ALDH4A1', 'score': 5.52}, {'connected_gene': 'MIR4695', 'score': 0.77}, {'connected_gene': 'MIR1290', 'score': 0.39}, {'connected_gene': 'ENSG00000255275', 'score': 0.29}]
chr1	GH01I019287	19287493	19288598	1.01	[{'connected_gene': 'AKR7A3', 'score': 553.21}, {'connected_gene': 'EMC1', 'score': 14.69}, {'connected_gene': 'MRTO4', 'score': 5.19}, {'connected_gene': 'ALDH4A1', 'score': 1.94}, {'connected_gene': 'AKR7L', 'score': 0.39}]
chr1	GH01I018989	18989007	18989076	0.78	[{'connected_gene': 'IFFO2', 'score': 11.65}, {'connected_gene': 'ALDH4A1', 'score': 10.4}, {'connected_gene': 'MIR1290', 'score': 10.39}, {'connected_gene': 'GC01P019006', 'score': 0.37}, {'connected_gene': 'LOC105376815', 'score': 0.21}]
chr1	GH01I018946	18946715	18957645	2.77	[{'connected_gene': 'IFFO2', 'score': 571.92}, {'connected_gene': 'EMC1', 'score': 8.36}, {'connected_gene': 'ALDH4A1', 'score': 6.65}, {'connected_gene': 'AKR7A3', 'score': 6.15}, {'connected_gene': 'UBR4', 'score': 3.16}, {'connected_gene': 'AKR7A2', 'score': 1.55}, {'connected_gene': 'ENSG00000255275', 'score': 0.29}]
chr1	GH01I018917	18917037	18920023	0.52	[{'connected_gene': 'IFFO2', 'score': 19.49}, {'connected_gene': 'AKR7A3', 'score': 12.42}, {'connected_gene': 'EMC1', 'score': 5.93}, {'connected_gene': 'ENSG00000255275', 'score': 0.77}, {'connected_gene': 'ALDH4A1', 'score': 0.37}]
chr1	GH01I018884	18884227	18884396	0.71	[{'connected_gene': 'MIR4695', 'score': 550.77}, {'connected_gene': 'MIR1290', 'score': 0.39}, {'connected_gene': 'ALDH4A1', 'score': 0.37}, {'connected_gene': 'ENSG00000255275', 'score': 0.28}]
chr1	GH01I019021	19021931	19022547	0.2	[{'connected_gene': 'MIR1290', 'score': 10.93}, {'connected_gene': 'ALDH4A1', 'score': 10.93}, {'connected_gene': 'TAS1R2', 'score': 9.79}, {'connected_gene': 'GC01P019027', 'score': 0.77}, {'connected_gene': 'GC01P019006', 'score': 0.37}, {'connected_gene': 'LOC105376815', 'score': 0.31}]
chr1	GH01I019045	19045384	19046123	0.82	[{'connected_gene': 'MIR1290', 'score': 11.1}, {'connected_gene': 'ALDH4A1', 'score': 11.1}, {'connected_gene': 'EMC1', 'score': 7.82}, {'connected_gene': 'LOC105376815', 'score': 0.44}, {'connected_gene': 'GC01P019027', 'score': 0.37}]
chr1	GH01I018893	18893909	18893916	0.2	[{'connected_gene': 'MIR1290', 'score': 0.77}, {'connected_gene': 'ALDH4A1', 'score': 0.44}, {'connected_gene': 'MIR4695', 'score': 0.39}, {'connected_gene': 'ENSG00000255275', 'score': 0.31}]
chr1	GH01I018900	18900279	18900875	0.89	[{'connected_gene': 'MIR1290', 'score': 0.77}, {'connected_gene': 'ALDH4A1', 'score': 0.77}, {'connected_gene': 'ENSG00000255275', 'score': 0.34}]
chr1	GH01I018914	18914001	18914400	0.69	[{'connected_gene': 'ENSG00000255275', 'score': 0.44}, {'connected_gene': 'ALDH4A1', 'score': 0.39}, {'connected_gene': 'IFFO2', 'score': 0.26}]
chr1	GH01I018875	18875327	18875476	0.73	[{'connected_gene': 'GC01M018875', 'score': 550.77}, {'connected_gene': 'TAS1R2', 'score': 0.37}, {'connected_gene': 'ALDH4A1', 'score': 0.31}, {'connected_gene': 'ENSG00000255275', 'score': 0.25}]