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
ENST00000399763	[[25757387, 25757669], [25810606, 25810765], [25812103, 25812286], [25815663, 25815784], [25817900, 25818075], [25824754, 25826700]]	[[25757589, 25757669], [25810606, 25810765], [25812103, 25812286], [25815663, 25815784], [25817900, 25818075], [25824754, 25824957]]
ENST00000399766	[[25757387, 25757669], [25773252, 25773394], [25775298, 25775425], [25780749, 25780873], [25810606, 25810765], [25812103, 25812286], [25815663, 25815784], [25817900, 25818075], [25824754, 25826700]]	[[25757589, 25757669], [25773252, 25773394], [25775298, 25775425], [25780749, 25780873], [25810606, 25810765], [25812103, 25812286], [25815663, 25815784], [25817900, 25818075], [25824754, 25824957]]
ENST00000374343	[[25757410, 25757669], [25773252, 25773394], [25775298, 25775425], [25780749, 25780873], [25783143, 25783322], [25784881, 25785383], [25810606, 25810765], [25812103, 25812286], [25815663, 25815784], [25817900, 25818075], [25824754, 25826700]]	[[25757589, 25757669], [25773252, 25773394], [25775298, 25775425], [25780749, 25780873], [25783143, 25783322], [25784881, 25785383], [25810606, 25810765], [25812103, 25812286], [25815663, 25815784], [25817900, 25818075], [25824754, 25824957]]
ENST00000470035	[[25775383, 25775425], [25780749, 25780873], [25784881, 25785274]]	None

Promoter

Chrom	Start	End	Description
chr1	25757347	25757350	CAGE_peak_5_at_TMEM57_5end
chr1	25757376	25757409	CAGE_peak_1_at_TMEM57_5end
chr1	25757432	25757481	CAGE_peak_2_at_TMEM57_5end
chr1	25757489	25757504	CAGE_peak_3_at_TMEM57_5end
chr1	25757512	25757533	CAGE_peak_4_at_TMEM57_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I025497	25497435	25497639	0.22	[{'connected_gene': 'RHCE', 'score': 10.91}, {'connected_gene': 'MACO1', 'score': 10.91}, {'connected_gene': 'SELENON', 'score': 10.49}, {'connected_gene': 'ENSG00000233478', 'score': 10.21}, {'connected_gene': 'LDLRAP1', 'score': 0.25}, {'connected_gene': 'GC01M025438', 'score': 0.22}]
chr1	GH01I025475	25475548	25475656	0.36	[{'connected_gene': 'RHCE', 'score': 50.65}, {'connected_gene': 'MACO1', 'score': 12.07}, {'connected_gene': 'RSRP1', 'score': 1.38}, {'connected_gene': 'GC01M025438', 'score': 0.28}, {'connected_gene': 'LDLRAP1', 'score': 0.2}]
chr1	GH01I025478	25478001	25478200	0.38	[{'connected_gene': 'RHCE', 'score': 12.06}, {'connected_gene': 'MACO1', 'score': 12.06}, {'connected_gene': 'GC01M025438', 'score': 0.28}, {'connected_gene': 'LDLRAP1', 'score': 0.2}]
chr1	GH01I025467	25467650	25470070	0.79	[{'connected_gene': 'RHCE', 'score': 62.14}, {'connected_gene': 'MACO1', 'score': 12.09}, {'connected_gene': 'GC01M025438', 'score': 0.31}, {'connected_gene': 'LDLRAP1', 'score': 0.19}]
chr1	GH01I025477	25477510	25477659	0.72	[{'connected_gene': 'RHCE', 'score': 12.06}, {'connected_gene': 'MACO1', 'score': 12.06}, {'connected_gene': 'GC01M025438', 'score': 0.28}, {'connected_gene': 'LDLRAP1', 'score': 0.2}]
chr1	GH01I025461	25461890	25462039	0.49	[{'connected_gene': 'RHCE', 'score': 42.07}, {'connected_gene': 'GC01M025438', 'score': 0.34}, {'connected_gene': 'MACO1', 'score': 0.29}, {'connected_gene': 'LDLRAP1', 'score': 0.18}]
chr1	GH01I025428	25428826	25432401	2.27	[{'connected_gene': 'RHCE', 'score': 599.48}, {'connected_gene': 'MACO1', 'score': 550.77}, {'connected_gene': 'SYF2', 'score': 20.03}, {'connected_gene': 'SRRM1', 'score': 11.51}, {'connected_gene': 'RHD', 'score': 4.87}]
chr1	GH01I025352	25352417	25353926	0.43	[{'connected_gene': 'RHCE', 'score': 11.39}, {'connected_gene': 'MACO1', 'score': 11.39}, {'connected_gene': 'ENSG00000233478', 'score': 10.06}, {'connected_gene': 'PIR39713', 'score': 0.39}, {'connected_gene': 'GC01P025345', 'score': 0.39}, {'connected_gene': 'TMEM50A', 'score': 0.37}, {'connected_gene': 'SDHDP7', 'score': 0.25}]
chr1	GH01I025434	25434233	25436627	1.12	[{'connected_gene': 'RHCE', 'score': 49.7}, {'connected_gene': 'ENSG00000261349', 'score': 10.16}, {'connected_gene': 'MACO1', 'score': 0.77}, {'connected_gene': 'GC01M025438', 'score': 0.77}]
chr1	GH01I025640	25640691	25644084	1.04	[{'connected_gene': 'ENSG00000225643', 'score': 6.7}, {'connected_gene': 'MTFR1L', 'score': 4.74}, {'connected_gene': 'RSRP1', 'score': 4.52}, {'connected_gene': 'LDLRAP1', 'score': 4.33}, {'connected_gene': 'MAN1C1', 'score': 3.76}, {'connected_gene': 'PDIK1L', 'score': 2.19}, {'connected_gene': 'SYF2', 'score': 1.56}, {'connected_gene': 'MACO1', 'score': 1.51}, {'connected_gene': 'ENSG00000233478', 'score': 0.37}]
chr1	GH01I025238	25238705	25241527	1.76	[{'connected_gene': 'ENSG00000284657', 'score': 550.77}, {'connected_gene': 'SRRM1', 'score': 14.53}, {'connected_gene': 'SYF2', 'score': 11.8}, {'connected_gene': 'RHD', 'score': 4.88}, {'connected_gene': 'ENSG00000261349', 'score': 4.8}, {'connected_gene': 'EXTL1', 'score': 4.51}, {'connected_gene': 'MACO1', 'score': 1.92}, {'connected_gene': 'ENSG00000272432', 'score': 0.44}]