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
ENST00000388913	[[144806102, 144810893], [144811136, 144811261], [144811328, 144811493], [144812305, 144812767], [144815860, 144815971]]	[[144808090, 144810893], [144811136, 144811261], [144811328, 144811493], [144812305, 144812752]]
ENST00000395103	[[144806103, 144806524], [144807620, 144810810]]	[[144808090, 144810810]]
NM_198488	[[144806102, 144810893], [144811136, 144811261], [144811328, 144811493], [144812305, 144812767], [144815860, 144815914]]	[[144808090, 144810893], [144811136, 144811261], [144811328, 144811493], [144812305, 144812752]]

Promoter

Chrom	Start	End	Description
chr8	144815895	144815912	CAGE_peak_4_at_FAM83H_5end
chr8	144815914	144815961	CAGE_peak_1_at_FAM83H_5end
chr8	144815966	144815986	CAGE_peak_2_at_FAM83H_5end
chr8	144816195	144816210	CAGE_peak_6_at_FAM83H_5end
chr8	144816246	144816276	CAGE_peak_3_at_FAM83H_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I143873	143873170	143879430	2.67	[{'connected_gene': 'EPPK1', 'score': 562.81}, {'connected_gene': 'PIR32055', 'score': 550.77}, {'connected_gene': 'PLEC', 'score': 5.88}, {'connected_gene': 'FAM83H', 'score': 3.2}, {'connected_gene': 'CYC1', 'score': 2.26}, {'connected_gene': 'PUF60', 'score': 1.77}, {'connected_gene': 'EXOSC4', 'score': 1.58}, {'connected_gene': 'SCRIB', 'score': 1.52}, {'connected_gene': 'MROH6', 'score': 1.47}, {'connected_gene': 'NAPRT', 'score': 1.43}]
chr8	GH08I143886	143886285	143886505	0.45	[{'connected_gene': 'EPPK1', 'score': 11.26}, {'connected_gene': 'FAM83H', 'score': 3.82}, {'connected_gene': 'PLEC', 'score': 2.49}, {'connected_gene': 'MROH6', 'score': 1.65}, {'connected_gene': 'TIGD5', 'score': 1.34}, {'connected_gene': 'PIR31533', 'score': 0.29}]
chr8	GH08I143914	143914531	143959729	2.91	[{'connected_gene': 'PLEC', 'score': 593.47}, {'connected_gene': 'ZNF251', 'score': 28.19}, {'connected_gene': 'ZNF517', 'score': 24.0}, {'connected_gene': 'ZNF250', 'score': 23.66}, {'connected_gene': 'ZNF7', 'score': 23.43}, {'connected_gene': 'LOC105375803', 'score': 22.19}, {'connected_gene': 'ZNF623', 'score': 20.89}, {'connected_gene': 'CPSF1', 'score': 20.24}, {'connected_gene': 'VPS28', 'score': 19.54}, {'connected_gene': 'LRRC14', 'score': 15.8}, {'connected_gene': 'RPL8', 'score': 13.14}, {'connected_gene': 'EEF1D', 'score': 12.75}, {'connected_gene': 'GPAA1', 'score': 12.72}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'ZNF34', 'score': 11.09}, {'connected_gene': 'ENSG00000255050', 'score': 10.64}, {'connected_gene': 'ENSG00000254533', 'score': 10.19}, {'connected_gene': 'CYHR1', 'score': 10.1}, {'connected_gene': 'WDR97', 'score': 6.9}, {'connected_gene': 'C8orf82', 'score': 6.65}, {'connected_gene': 'HSF1', 'score': 5.42}, {'connected_gene': 'ZC3H3', 'score': 5.21}, {'connected_gene': 'SLC39A4', 'score': 4.95}, {'connected_gene': 'ENSG00000253931', 'score': 4.86}, {'connected_gene': 'ENSG00000254973', 'score': 4.84}, {'connected_gene': 'MAFA', 'score': 4.76}, {'connected_gene': 'SPATC1', 'score': 4.66}, {'connected_gene': 'TOP1MT', 'score': 4.46}, {'connected_gene': 'TONSL', 'score': 4.22}, {'connected_gene': 'GRINA', 'score': 4.08}, {'connected_gene': 'EPPK1', 'score': 2.6}, {'connected_gene': 'PARP10', 'score': 1.88}, {'connected_gene': 'FAM83H', 'score': 1.77}, {'connected_gene': 'GSDMD', 'score': 1.45}, {'connected_gene': 'NAPRT', 'score': 1.25}, {'connected_gene': 'MIR661', 'score': 0.44}, {'connected_gene': 'GC08P143945', 'score': 0.44}, {'connected_gene': 'GC08M143946', 'score': 0.44}, {'connected_gene': 'GC08M143943', 'score': 0.44}, {'connected_gene': 'GC08P143922', 'score': 0.39}, {'connected_gene': 'PIR31533', 'score': 0.37}, {'connected_gene': 'PIR52203', 'score': 0.37}, {'connected_gene': 'PIR42402', 'score': 0.37}, {'connected_gene': 'GC08M143922', 'score': 0.37}]
chr8	GH08I143731	143731693	143742802	2.52	[{'connected_gene': 'FAM83H', 'score': 565.33}, {'connected_gene': 'ENSG00000254548', 'score': 20.41}, {'connected_gene': 'FAM83H-AS1', 'score': 17.08}, {'connected_gene': 'LRRC14', 'score': 15.8}, {'connected_gene': 'LOC105375803', 'score': 12.88}, {'connected_gene': 'ZNF696', 'score': 11.43}, {'connected_gene': 'ZNF623', 'score': 10.83}, {'connected_gene': 'CYHR1', 'score': 10.1}, {'connected_gene': 'CPSF1', 'score': 9.92}, {'connected_gene': 'VPS28', 'score': 9.67}, {'connected_gene': 'ENSG00000254973', 'score': 6.81}, {'connected_gene': 'PLEC', 'score': 5.61}, {'connected_gene': 'MAPK15', 'score': 5.26}, {'connected_gene': 'MROH6', 'score': 2.72}, {'connected_gene': 'RHPN1', 'score': 1.73}, {'connected_gene': 'IQANK1', 'score': 0.77}, {'connected_gene': 'GC08P143741', 'score': 0.77}, {'connected_gene': 'MIR4664', 'score': 0.77}, {'connected_gene': 'PIR46516', 'score': 0.77}]
chr8	GH08I143792	143792601	143794551	0.96	[{'connected_gene': 'PUF60', 'score': 10.81}, {'connected_gene': 'FAM83H', 'score': 10.69}, {'connected_gene': 'GRINA', 'score': 4.56}, {'connected_gene': 'MIR937', 'score': 0.37}, {'connected_gene': 'SCRIB', 'score': 0.34}, {'connected_gene': 'ENSG00000254973', 'score': 0.34}]
chr8	GH08I143730	143730187	143730915	0.38	[{'connected_gene': 'FAM83H-AS1', 'score': 17.08}, {'connected_gene': 'PIR43942', 'score': 0.77}, {'connected_gene': 'GC08M143727', 'score': 0.77}, {'connected_gene': 'MIR4664', 'score': 0.77}, {'connected_gene': 'FAM83H', 'score': 0.44}]
chr8	GH08I143770	143770395	143772913	1.1	[{'connected_gene': 'ENSG00000254973', 'score': 550.77}, {'connected_gene': 'CPSF1', 'score': 28.47}, {'connected_gene': 'VPS28', 'score': 24.73}, {'connected_gene': 'LRRC14', 'score': 24.08}, {'connected_gene': 'ZNF623', 'score': 22.96}, {'connected_gene': 'ZNF707', 'score': 17.55}, {'connected_gene': 'ZNF251', 'score': 17.08}, {'connected_gene': 'FAM83H', 'score': 16.61}, {'connected_gene': 'ENSG00000254548', 'score': 16.11}, {'connected_gene': 'LOC105375803', 'score': 12.88}, {'connected_gene': 'ADCK5', 'score': 12.75}, {'connected_gene': 'SLC52A2', 'score': 11.99}, {'connected_gene': 'ZNF696', 'score': 11.43}, {'connected_gene': 'PARP10', 'score': 10.89}, {'connected_gene': 'GPAA1', 'score': 10.68}, {'connected_gene': 'ZC3H3', 'score': 10.47}, {'connected_gene': 'SHARPIN', 'score': 10.38}, {'connected_gene': 'CYHR1', 'score': 10.1}, {'connected_gene': 'ENSG00000255050', 'score': 9.84}, {'connected_gene': 'FAM83H-AS1', 'score': 6.6}, {'connected_gene': 'LOC105375800', 'score': 0.39}, {'connected_gene': 'IQANK1', 'score': 0.28}]
chr8	GH08I143724	143724398	143725126	0.46	[{'connected_gene': 'PIR52954', 'score': 550.77}, {'connected_gene': 'ENSG00000254548', 'score': 19.43}, {'connected_gene': 'FAM83H', 'score': 5.72}, {'connected_gene': 'THEM6', 'score': 5.09}, {'connected_gene': 'PIR43942', 'score': 0.77}, {'connected_gene': 'GC08M143727', 'score': 0.77}]
chr8	GH08I143717	143717018	143717267	0.8	[{'connected_gene': 'ENSG00000254548', 'score': 559.37}, {'connected_gene': 'MAPK15', 'score': 552.6}, {'connected_gene': 'FAM83H', 'score': 5.51}]
chr8	GH08I143836	143836137	143837158	0.69	[{'connected_gene': 'GC08P143837', 'score': 550.77}, {'connected_gene': 'MIR6845', 'score': 550.77}, {'connected_gene': 'SCRIB', 'score': 12.34}, {'connected_gene': 'EPPK1', 'score': 12.1}, {'connected_gene': 'MIR661', 'score': 11.33}, {'connected_gene': 'PLEC', 'score': 11.3}, {'connected_gene': 'PARP10', 'score': 10.85}, {'connected_gene': 'SPATC1', 'score': 10.84}, {'connected_gene': 'FAM83H', 'score': 6.36}, {'connected_gene': 'PUF60', 'score': 5.37}, {'connected_gene': 'NRBP2', 'score': 0.77}, {'connected_gene': 'ENSG00000255343', 'score': 0.77}, {'connected_gene': 'GC08M143801', 'score': 0.28}]
chr8	GH08I143722	143722551	143723684	0.85	[{'connected_gene': 'PIR52954', 'score': 550.77}, {'connected_gene': 'FAM83H-AS1', 'score': 7.22}, {'connected_gene': 'FAM83H', 'score': 5.87}, {'connected_gene': 'ENSG00000254548', 'score': 0.77}]