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
ENST00000354287	[[11708423, 11708885], [11709143, 11709282], [11709835, 11709931], [11710001, 11710131], [11710522, 11710891], [11714375, 11714739]]	[[11708750, 11708885], [11709143, 11709282], [11709835, 11709931], [11710001, 11710131], [11710522, 11710891], [11714375, 11714397]]
ENST00000471501	[[11709584, 11709931], [11710001, 11710131], [11710522, 11710770]]	None
ENST00000466919	[[11709930, 11710131], [11710522, 11710891], [11713447, 11713484], [11714087, 11714254]]	None
ENST00000465901	[[11710603, 11710891], [11715696, 11715842]]	[[11710603, 11710891], [11715696, 11715769]]
ENST00000475961	[[11710793, 11710891], [11713447, 11713586]]	None
NM_012168	[[11708417, 11708885], [11709143, 11709282], [11709835, 11709931], [11710001, 11710131], [11710522, 11710891], [11714375, 11714888]]	[[11708750, 11708885], [11709143, 11709282], [11709835, 11709931], [11710001, 11710131], [11710522, 11710891], [11714375, 11714397]]

Promoter

Chrom	Start	End	Description
chr1	11714406	11714429	CAGE_peak_2_at_FBXO2_5end
chr1	11714446	11714457	CAGE_peak_4_at_FBXO2_5end
chr1	11714462	11714471	CAGE_peak_7_at_FBXO2_5end
chr1	11714479	11714493	CAGE_peak_1_at_FBXO2_5end
chr1	11714700	11714783	CAGE_peak_3_at_FBXO2_5end
chr1	11714852	11714899	CAGE_peak_5_at_FBXO2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I011704	11704364	11704493	0.66	[{'connected_gene': 'AGTRAP', 'score': 12.19}, {'connected_gene': 'FBXO2', 'score': 11.42}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.25}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1	GH01I011705	11705966	11707082	0.74	[{'connected_gene': 'AGTRAP', 'score': 16.82}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'EXOSC10', 'score': 9.67}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1	GH01I011707	11707311	11707962	1.06	[{'connected_gene': 'EXOSC10', 'score': 18.13}, {'connected_gene': 'TARDBP', 'score': 15.01}, {'connected_gene': 'AGTRAP', 'score': 12.21}, {'connected_gene': 'ENSG00000226849', 'score': 11.96}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.29}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'MTHFR', 'score': 11.11}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'DRAXIN', 'score': 5.08}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}]
chr1	GH01I011652	11652495	11655556	1.88	[{'connected_gene': 'FBXO2', 'score': 566.86}, {'connected_gene': 'FBXO44', 'score': 550.77}, {'connected_gene': 'FBXO6', 'score': 6.01}, {'connected_gene': 'GC01M011650', 'score': 0.77}]
chr1	GH01I011689	11689322	11694020	2.09	[{'connected_gene': 'MAD2L2', 'score': 557.78}, {'connected_gene': 'DRAXIN', 'score': 550.44}, {'connected_gene': 'FBXO2', 'score': 5.73}, {'connected_gene': 'MTHFR', 'score': 3.1}, {'connected_gene': 'CLCN6', 'score': 2.96}, {'connected_gene': 'TNFRSF1B', 'score': 2.67}]
chr1	GH01I011650	11648601	11649506	0.87	[{'connected_gene': 'GC01M011650', 'score': 550.77}, {'connected_gene': 'FBXO2', 'score': 5.04}, {'connected_gene': 'ENSG00000284708', 'score': 0.31}]
chr1	GH01I011642	11642544	11642693	0.74	[{'connected_gene': 'GC01M011650', 'score': 0.44}, {'connected_gene': 'FBXO2', 'score': 0.39}, {'connected_gene': 'ENSG00000284708', 'score': 0.37}]
chr1	GH01I011648	11648164	11648313	0.38	[{'connected_gene': 'GC01M011650', 'score': 0.77}, {'connected_gene': 'FBXO2', 'score': 0.44}, {'connected_gene': 'ENSG00000284708', 'score': 0.34}]
chr1	GH01I011649	11649601	11651133	1.19	[{'connected_gene': 'GC01M011650', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 25.33}, {'connected_gene': 'UBIAD1', 'score': 11.64}, {'connected_gene': 'VPS13D', 'score': 11.39}, {'connected_gene': 'ENSG00000226849', 'score': 11.07}, {'connected_gene': 'EXOSC10', 'score': 10.48}, {'connected_gene': 'FBXO2', 'score': 6.14}, {'connected_gene': 'ENSG00000284708', 'score': 0.31}]