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
ENST00000334530	[[21995532, 21996065], [21996151, 21996306], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999366]]	[[21996201, 21996306], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21998995]]
ENST00000306306	[[21995532, 21996065], [21996151, 21996306], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999464]]	[[21995999, 21996065], [21996151, 21996306], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21998995]]
ENST00000523293	[[21995763, 21996065], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999053]]	[[21995862, 21996065], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21998995]]
ENST00000518664	[[21996415, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999415]]	[[21996415, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21998995]]
ENST00000519074	[[21996419, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999281]]	None
ENST00000519875	[[21997314, 21997577], [21997684, 21997761], [21998137, 21998210], [21998963, 21999282]]	None
ENST00000521744	[[21997718, 21997761], [21998119, 21998210], [21998963, 21999464]]	[[21997718, 21997761], [21998119, 21998210], [21998963, 21998995]]
NM_025232	[[21995526, 21996065], [21996151, 21996306], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999464]]	[[21995999, 21996065], [21996151, 21996306], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21998995]]
NM_001316964	[[21995526, 21996065], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999464]]	[[21995862, 21996065], [21996438, 21996574], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21998995]]
NM_001316965	[[21995526, 21996065], [21996151, 21996306], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21999464]]	[[21996201, 21996306], [21996928, 21997042], [21997475, 21997596], [21997684, 21997761], [21998137, 21998210], [21998963, 21998995]]

Promoter

Chrom	Start	End	Description
chr8	21999362	21999444	CAGE_peak_1_at_REEP4_5end
chr8	21999447	21999469	CAGE_peak_2_at_REEP4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I022143	22143748	22143897	0.63	[{'connected_gene': 'REEP4', 'score': 550.77}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8	GH08I022136	22136968	22137998	1.14	[{'connected_gene': 'REEP4', 'score': 11.13}, {'connected_gene': 'HR', 'score': 0.77}]
chr8	GH08I022138	22138506	22143093	2.27	[{'connected_gene': 'REEP4', 'score': 558.62}, {'connected_gene': 'ENSG00000253200', 'score': 17.51}, {'connected_gene': 'C8orf58', 'score': 15.78}, {'connected_gene': 'CCAR2', 'score': 12.64}, {'connected_gene': 'FAM160B2', 'score': 11.3}, {'connected_gene': 'POLR3D', 'score': 10.43}, {'connected_gene': 'BIN3', 'score': 10.19}, {'connected_gene': 'SORBS3', 'score': 5.2}, {'connected_gene': 'HR', 'score': 0.44}]
chr8	GH08I022146	22146242	22147501	0.69	[{'connected_gene': 'REEP4', 'score': 9.35}, {'connected_gene': 'SORBS3', 'score': 5.35}, {'connected_gene': 'LGI3', 'score': 0.39}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8	GH08I022172	22172168	22172397	0.72	[{'connected_gene': 'BMP1', 'score': 16.36}, {'connected_gene': 'REEP4', 'score': 11.12}, {'connected_gene': 'NPM2', 'score': 10.44}, {'connected_gene': 'LOC101929237', 'score': 8.98}, {'connected_gene': 'ENSG00000177725', 'score': 0.77}, {'connected_gene': 'LOC105379319', 'score': 0.37}]
chr8	GH08I022164	22164364	22171141	2.39	[{'connected_gene': 'BMP1', 'score': 578.33}, {'connected_gene': 'ENSG00000177725', 'score': 550.77}, {'connected_gene': 'C8orf58', 'score': 15.25}, {'connected_gene': 'FAM160B2', 'score': 15.12}, {'connected_gene': 'ENSG00000253200', 'score': 14.99}, {'connected_gene': 'LOC107986927', 'score': 12.83}, {'connected_gene': 'SORBS3', 'score': 12.66}, {'connected_gene': 'REEP4', 'score': 11.42}, {'connected_gene': 'NPM2', 'score': 10.59}, {'connected_gene': 'POLR3D', 'score': 10.34}, {'connected_gene': 'LOC101929237', 'score': 8.98}, {'connected_gene': 'XPO7', 'score': 5.82}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8	GH08I022155	22155643	22157200	1.59	[{'connected_gene': 'LGI3', 'score': 550.77}, {'connected_gene': 'SFTPC', 'score': 550.77}, {'connected_gene': 'REEP4', 'score': 0.39}]