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
ENST00000304698	[[187558697, 187559138], [187604954, 187605188], [187608209, 187608302], [187611818, 187611977], [187615860, 187616031], [187618659, 187618776], [187625839, 187625963], [187626205, 187630685]]	[[187558900, 187559138], [187604954, 187605188], [187608209, 187608302], [187611818, 187611977], [187615860, 187616031], [187618659, 187618776], [187625839, 187625963], [187626205, 187627550]]
NM_177454	[[187558788, 187559138], [187604954, 187605188], [187608209, 187608302], [187611818, 187611977], [187615860, 187616031], [187618659, 187618776], [187625839, 187625963], [187626205, 187628514]]	[[187558900, 187559138], [187604954, 187605188], [187608209, 187608302], [187611818, 187611977], [187615860, 187616031], [187618659, 187618776], [187625839, 187625963], [187626205, 187627550]]

Promoter

Chrom	Start	End	Description
chr2	187558488	187558521	CAGE_peak_8_at_FAM171B_5end
chr2	187558736	187558795	CAGE_peak_1_at_FAM171B_5end
chr2	187558804	187558813	CAGE_peak_2_at_FAM171B_5end
chr2	187626205	187626220	CAGE_peak_3_at_FAM171B_5end
chr2	187626531	187626547	CAGE_peak_9_at_FAM171B_5end
chr2	187626625	187626644	CAGE_peak_4_at_FAM171B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I187526	187526169	187531371	1.33	[{'connected_gene': 'TFPI', 'score': 15.94}, {'connected_gene': 'CALCRL', 'score': 11.5}, {'connected_gene': 'FAM171B', 'score': 3.67}, {'connected_gene': 'GC02M187465', 'score': 0.21}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I186574	186574500	186577037	1.37	[{'connected_gene': 'ITGAV', 'score': 11.1}, {'connected_gene': 'ENSG00000227227', 'score': 10.33}, {'connected_gene': 'FAM171B', 'score': 10.33}, {'connected_gene': 'ENSG00000259915', 'score': 8.09}, {'connected_gene': 'DPRXP1', 'score': 0.17}]
chr2	GH02I186757	186757194	186757343	0.43	[{'connected_gene': 'ITGAV', 'score': 4.9}, {'connected_gene': 'ENSG00000227227', 'score': 0.21}, {'connected_gene': 'FAM171B', 'score': 0.21}, {'connected_gene': 'ZSWIM2', 'score': 0.16}]
chr2	GH02I186595	186595274	186595423	0.84	[{'connected_gene': 'ITGAV', 'score': 0.44}, {'connected_gene': 'FAM171B', 'score': 0.15}]
chr2	GH02I186613	186613174	186613323	0.2	[{'connected_gene': 'ITGAV', 'score': 12.15}, {'connected_gene': 'FAM171B', 'score': 0.18}]
chr2	GH02I186592	186592973	186593313	0.38	[{'connected_gene': 'ITGAV', 'score': 0.77}, {'connected_gene': 'FAM171B', 'score': 0.15}]
chr2	GH02I186542	186542632	186547717	1.29	[{'connected_gene': 'ITGAV', 'score': 13.13}, {'connected_gene': 'RPL21P32', 'score': 10.07}, {'connected_gene': 'ENSG00000259915', 'score': 8.6}, {'connected_gene': 'FAM171B', 'score': 6.79}, {'connected_gene': 'LOC101927196', 'score': 4.06}, {'connected_gene': 'DPRXP1', 'score': 0.22}]
chr2	GH02I186588	186588677	186592630	2.08	[{'connected_gene': 'ITGAV', 'score': 562.93}, {'connected_gene': 'RPL21P32', 'score': 12.82}, {'connected_gene': 'ENSG00000259915', 'score': 7.55}, {'connected_gene': 'LOC101927196', 'score': 6.0}, {'connected_gene': 'FAM171B', 'score': 0.15}]
chr2	GH02I186693	186693474	186695830	1.87	[{'connected_gene': 'FAM171B', 'score': 564.56}, {'connected_gene': 'ENSG00000227227', 'score': 550.77}, {'connected_gene': 'ITGAV', 'score': 6.61}, {'connected_gene': 'TFPI', 'score': 4.94}]
chr2	GH02I186736	186736650	186736678	0.27	[{'connected_gene': 'FAM171B', 'score': 12.65}, {'connected_gene': 'ZSWIM2', 'score': 11.36}, {'connected_gene': 'ENSG00000227227', 'score': 0.26}]
chr2	GH02I186721	186721663	186722533	0.31	[{'connected_gene': 'FAM171B', 'score': 20.24}, {'connected_gene': 'ENSG00000227227', 'score': 12.05}, {'connected_gene': 'ZSWIM2', 'score': 0.13}]
chr2	GH02I185990	185990874	185991840	0.43	[{'connected_gene': 'FAM171B', 'score': 4.87}, {'connected_gene': 'RPL21P32', 'score': 0.29}, {'connected_gene': 'GC02P186061', 'score': 0.2}]
chr2	GH02I185969	185969425	185971243	0.66	[{'connected_gene': 'FAM171B', 'score': 6.19}, {'connected_gene': 'ENSG00000259915', 'score': 4.12}, {'connected_gene': 'RPL21P32', 'score': 0.39}, {'connected_gene': 'GC02P186061', 'score': 0.16}]
chr2	GH02I186848	186848557	186849993	1.81	[{'connected_gene': 'ZSWIM2', 'score': 555.09}, {'connected_gene': 'FAM171B', 'score': 12.79}, {'connected_gene': 'LINC01473', 'score': 11.86}, {'connected_gene': 'ENSG00000259915', 'score': 9.85}, {'connected_gene': 'ITGAV', 'score': 4.08}, {'connected_gene': 'PIR60867', 'score': 0.1}, {'connected_gene': 'GC02M187006', 'score': 0.1}]
chr2	GH02I186883	186883544	186886612	0.77	[{'connected_gene': 'ZSWIM2', 'score': 11.37}, {'connected_gene': 'FAM171B', 'score': 4.13}, {'connected_gene': 'PIR60867', 'score': 0.13}, {'connected_gene': 'GC02M187006', 'score': 0.13}]
chr2	GH02I186748	186748454	186748623	0.57	[{'connected_gene': 'ZSWIM2', 'score': 10.31}, {'connected_gene': 'ENSG00000227227', 'score': 0.23}, {'connected_gene': 'FAM171B', 'score': 0.23}]
chr2	GH02I185978	185978484	185980742	0.57	[{'connected_gene': 'LOC101927196', 'score': 17.35}, {'connected_gene': 'FAM171B', 'score': 4.86}, {'connected_gene': 'ENSG00000259915', 'score': 4.12}, {'connected_gene': 'RPL21P32', 'score': 0.34}, {'connected_gene': 'GC02P186061', 'score': 0.18}]
chr2	GH02I186605	186605000	186605201	0.46	[{'connected_gene': 'RPL21P32', 'score': 13.0}, {'connected_gene': 'ITGAV', 'score': 0.37}, {'connected_gene': 'FAM171B', 'score': 0.17}]
chr2	GH02I186735	186735018	186735719	0.2	[{'connected_gene': 'ENSG00000227227', 'score': 11.19}, {'connected_gene': 'FAM171B', 'score': 11.19}, {'connected_gene': 'TFPI', 'score': 3.94}, {'connected_gene': 'ZSWIM2', 'score': 0.14}]
chr2	GH02I186572	186572599	186574324	0.54	[{'connected_gene': 'ENSG00000227227', 'score': 10.33}, {'connected_gene': 'FAM171B', 'score': 10.33}, {'connected_gene': 'ENSG00000259915', 'score': 8.42}, {'connected_gene': 'ITGAV', 'score': 0.37}, {'connected_gene': 'DPRXP1', 'score': 0.18}]
chr2	GH02I186724	186724327	186725177	0.2	[{'connected_gene': 'ENSG00000227227', 'score': 12.05}, {'connected_gene': 'FAM171B', 'score': 12.03}, {'connected_gene': 'ITGAV', 'score': 5.94}, {'connected_gene': 'ZSWIM2', 'score': 0.13}]
chr2	GH02I186641	186641834	186642003	0.77	[{'connected_gene': 'ENSG00000227227', 'score': 11.51}, {'connected_gene': 'FAM171B', 'score': 11.51}, {'connected_gene': 'ITGAV', 'score': 11.13}]