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
ENST00000301141	[[41349442, 41349882], [41350535, 41350677], [41351198, 41351386], [41351860, 41352002], [41352779, 41352956], [41354123, 41354284], [41354518, 41354668], [41355722, 41355885], [41356151, 41356352]]	[[41349700, 41349882], [41350535, 41350677], [41351198, 41351386], [41351860, 41352002], [41352779, 41352956], [41354123, 41354284], [41354518, 41354668], [41355722, 41355885], [41356151, 41356331]]
ENST00000599960	[[41349445, 41349882], [41350535, 41350757]]	None
ENST00000596719	[[41350826, 41351386], [41351860, 41352002], [41352779, 41352956], [41354123, 41354284], [41354518, 41354668], [41356151, 41356345]]	None
ENST00000600495	[[41351933, 41352002], [41352779, 41352956], [41354123, 41354284], [41354518, 41354668], [41355722, 41355885], [41356141, 41356352]]	[[41355877, 41355885], [41356141, 41356331]]
NM_000762	[[41349442, 41349882], [41350535, 41350677], [41351198, 41351386], [41351860, 41352002], [41352779, 41352956], [41354123, 41354284], [41354518, 41354668], [41355722, 41355885], [41356151, 41356352]]	[[41349700, 41349882], [41350535, 41350677], [41351198, 41351386], [41351860, 41352002], [41352779, 41352956], [41354123, 41354284], [41354518, 41354668], [41355722, 41355885], [41356151, 41356331]]

Promoter

Chrom	Start	End	Description
chr19	41356347	41356353	CAGE_peak_1_at_CYP2A6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I040843	40843201	40845062	1.08	[{'connected_gene': 'ITPKC', 'score': 6.77}, {'connected_gene': 'EGLN2', 'score': 5.19}, {'connected_gene': 'CYP2G1P', 'score': 4.63}, {'connected_gene': 'CYP2B7P', 'score': 4.59}, {'connected_gene': 'ENSG00000279108', 'score': 0.77}, {'connected_gene': 'PIR37611', 'score': 0.77}, {'connected_gene': 'CYP2A6', 'score': 0.44}, {'connected_gene': 'ENSG00000268797', 'score': 0.26}]
chr19	GH19I040747	40747874	40757648	2.62	[{'connected_gene': 'SNRPA', 'score': 660.01}, {'connected_gene': 'C19orf54', 'score': 564.09}, {'connected_gene': 'HNRNPUL1', 'score': 123.18}, {'connected_gene': 'ENSG00000269843', 'score': 88.05}, {'connected_gene': 'CCDC97', 'score': 75.31}, {'connected_gene': 'COQ8B', 'score': 67.85}, {'connected_gene': 'ZNF780A', 'score': 67.24}, {'connected_gene': 'FBL', 'score': 62.28}, {'connected_gene': 'AKT2', 'score': 62.26}, {'connected_gene': 'ZNF780B', 'score': 53.67}, {'connected_gene': 'ITPKC', 'score': 43.09}, {'connected_gene': 'PSMC4', 'score': 37.48}, {'connected_gene': 'CYP2G1P', 'score': 25.53}, {'connected_gene': 'SERTAD3', 'score': 22.59}, {'connected_gene': 'ZNF546', 'score': 20.56}, {'connected_gene': 'CYP2F2P', 'score': 19.56}, {'connected_gene': 'NUMBL', 'score': 18.72}, {'connected_gene': 'AXL', 'score': 13.02}, {'connected_gene': 'SPTBN4', 'score': 12.87}, {'connected_gene': 'ENSG00000268366', 'score': 12.63}, {'connected_gene': 'RAB4B-EGLN2', 'score': 12.17}, {'connected_gene': 'RAB4B', 'score': 12.17}, {'connected_gene': 'RNU6-195P', 'score': 12.16}, {'connected_gene': 'EGLN2', 'score': 12.11}, {'connected_gene': 'CYP2T1P', 'score': 10.71}, {'connected_gene': 'LTBP4', 'score': 9.74}, {'connected_gene': 'MIA', 'score': 9.48}, {'connected_gene': 'CYP2B6', 'score': 3.64}, {'connected_gene': 'CYP2A13', 'score': 1.98}, {'connected_gene': 'CYP2A6', 'score': 1.77}, {'connected_gene': 'SERTAD1', 'score': 1.62}, {'connected_gene': 'SHKBP1', 'score': 1.46}, {'connected_gene': 'GC19P040765', 'score': 0.39}, {'connected_gene': 'GC19P040724', 'score': 0.31}]
chr19	GH19I040862	40862624	40863647	1.04	[{'connected_gene': 'SNRPA', 'score': 36.69}, {'connected_gene': 'HNRNPUL1', 'score': 36.64}, {'connected_gene': 'ENSG00000269843', 'score': 30.81}, {'connected_gene': 'CCDC97', 'score': 23.54}, {'connected_gene': 'ZNF780B', 'score': 22.65}, {'connected_gene': 'PSMC4', 'score': 19.07}, {'connected_gene': 'ITPKC', 'score': 14.96}, {'connected_gene': 'AKT2', 'score': 14.59}, {'connected_gene': 'ZNF546', 'score': 11.99}, {'connected_gene': 'CYP2G1P', 'score': 11.69}, {'connected_gene': 'ENSG00000268366', 'score': 10.8}, {'connected_gene': 'SERTAD3', 'score': 10.27}, {'connected_gene': 'COQ8B', 'score': 9.98}, {'connected_gene': 'RPS19', 'score': 9.7}, {'connected_gene': 'CYP2A6', 'score': 0.39}, {'connected_gene': 'CYP2A7', 'score': 0.37}, {'connected_gene': 'ENSG00000268797', 'score': 0.21}]
chr19	GH19I040875	40875001	40876400	1.12	[{'connected_gene': 'CYP2G1P', 'score': 16.14}, {'connected_gene': 'CYP2B7P', 'score': 12.49}, {'connected_gene': 'CYP2A7', 'score': 5.83}, {'connected_gene': 'CYP2A6', 'score': 0.31}, {'connected_gene': 'ENSG00000268797', 'score': 0.19}]
chr19	GH19I040863	40863829	40865457	1.36	[{'connected_gene': 'ZNF780B', 'score': 14.62}, {'connected_gene': 'SPTBN4', 'score': 12.86}, {'connected_gene': 'ZNF546', 'score': 11.93}, {'connected_gene': 'CYP2F2P', 'score': 5.25}, {'connected_gene': 'EGLN2', 'score': 4.9}, {'connected_gene': 'CYP2A6', 'score': 0.39}, {'connected_gene': 'CYP2A7', 'score': 0.37}, {'connected_gene': 'ENSG00000268797', 'score': 0.21}]
chr19	GH19I041146	41146962	41146979	0.23	[{'connected_gene': 'CYP2B6', 'score': 2.48}, {'connected_gene': 'CYP2A6', 'score': 1.22}, {'connected_gene': 'PIR51429', 'score': 0.39}, {'connected_gene': 'RPL36P16', 'score': 0.34}]
chr19	GH19I040882	40882221	40882280	0.68	[{'connected_gene': 'CYP2A7', 'score': 550.77}, {'connected_gene': 'CYP2A6', 'score': 0.29}, {'connected_gene': 'ENSG00000268797', 'score': 0.18}]
chr19	GH19I040850	40850437	40850496	0.76	[{'connected_gene': 'CYP2A6', 'score': 550.77}, {'connected_gene': 'CYP2A7', 'score': 0.29}, {'connected_gene': 'ENSG00000268797', 'score': 0.25}]
chr19	GH19I040848	40848696	40848845	0.52	[{'connected_gene': 'CYP2A6', 'score': 556.24}, {'connected_gene': 'PIR37611', 'score': 550.77}, {'connected_gene': 'ENSG00000268797', 'score': 0.25}]