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
ENST00000324071	[[41497203, 41497381], [41509905, 41510068], [41510201, 41510351], [41512809, 41512970], [41515123, 41515300], [41515898, 41516040], [41518202, 41518390], [41518578, 41518720], [41522550, 41524303]]	[[41497210, 41497381], [41509905, 41510068], [41510201, 41510351], [41512809, 41512970], [41515123, 41515300], [41515898, 41516040], [41518202, 41518390], [41518578, 41518720], [41522550, 41522732]]
ENST00000598834	[[41497308, 41497381], [41509905, 41510068], [41510201, 41510351], [41512809, 41512970], [41513383, 41513436]]	None
ENST00000330446	[[41509850, 41510068], [41510201, 41510351], [41518202, 41518390], [41518578, 41518720], [41522550, 41523278]]	[[41509854, 41510068], [41510201, 41510351], [41518202, 41518390], [41518578, 41518720], [41522550, 41522732]]
ENST00000593831	[[41509850, 41510068], [41510201, 41510351], [41518202, 41518390], [41518578, 41518720], [41522550, 41523278]]	[[41509962, 41510068], [41510201, 41510351], [41518202, 41518390], [41518578, 41518720], [41522550, 41522732]]
ENST00000594187	[[41510283, 41510351], [41512809, 41513080]]	None
ENST00000597612	[[41515581, 41516040], [41518202, 41518390], [41522550, 41523752]]	None
NM_000767	[[41497203, 41497381], [41509905, 41510068], [41510201, 41510351], [41512809, 41512970], [41515123, 41515300], [41515898, 41516040], [41518202, 41518390], [41518578, 41518720], [41522550, 41524301]]	[[41497210, 41497381], [41509905, 41510068], [41510201, 41510351], [41512809, 41512970], [41515123, 41515300], [41515898, 41516040], [41518202, 41518390], [41518578, 41518720], [41522550, 41522732]]

Promoter

Chrom	Start	End	Description
chr19	41497155	41497162	CAGE_peak_2_at_CYP2B6_5end
chr19	41497178	41497200	CAGE_peak_1_at_CYP2B6_5end
chr19	41509967	41509988	CAGE_peak_3_at_CYP2B6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I040713	40713745	40722950	2.86	[{'connected_gene': 'ITPKC', 'score': 602.28}, {'connected_gene': 'COQ8B', 'score': 575.26}, {'connected_gene': 'SNRPA', 'score': 105.59}, {'connected_gene': 'HNRNPUL1', 'score': 98.06}, {'connected_gene': 'ENSG00000269843', 'score': 86.68}, {'connected_gene': 'ZNF780B', 'score': 82.21}, {'connected_gene': 'CCDC97', 'score': 75.21}, {'connected_gene': 'FBL', 'score': 55.15}, {'connected_gene': 'AKT2', 'score': 46.21}, {'connected_gene': 'ZNF780A', 'score': 37.09}, {'connected_gene': 'PSMC4', 'score': 36.36}, {'connected_gene': 'NUMBL', 'score': 30.24}, {'connected_gene': 'CYP2G1P', 'score': 25.15}, {'connected_gene': 'ZNF546', 'score': 22.5}, {'connected_gene': 'CYP2F2P', 'score': 11.41}, {'connected_gene': 'ENSG00000268366', 'score': 10.82}, {'connected_gene': 'SERTAD3', 'score': 10.28}, {'connected_gene': 'C19orf54', 'score': 7.01}, {'connected_gene': 'MIA', 'score': 6.4}, {'connected_gene': 'PLD3', 'score': 4.21}, {'connected_gene': 'RAB4B', 'score': 1.94}, {'connected_gene': 'EGLN2', 'score': 1.46}, {'connected_gene': 'LTBP4', 'score': 1.32}, {'connected_gene': 'SPTBN4', 'score': 1.29}, {'connected_gene': 'CYP2B6', 'score': 1.14}, {'connected_gene': 'GC19P040724', 'score': 0.44}]
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	GH19I040979	40979004	40983292	0.77	[{'connected_gene': 'SNRPA', 'score': 11.59}, {'connected_gene': 'HNRNPUL1', 'score': 11.52}, {'connected_gene': 'ENSG00000269843', 'score': 10.28}, {'connected_gene': 'CCDC97', 'score': 9.78}, {'connected_gene': 'COQ8B', 'score': 9.76}, {'connected_gene': 'ZNF780A', 'score': 6.99}, {'connected_gene': 'CYP2B7P', 'score': 6.28}, {'connected_gene': 'CYP2B6', 'score': 5.22}, {'connected_gene': 'ENSG00000269353', 'score': 0.29}]
chr19	GH19I040999	40999826	41001525	0.8	[{'connected_gene': 'CYP2G1P', 'score': 13.47}, {'connected_gene': 'CYP2A7P1', 'score': 11.48}, {'connected_gene': 'CYP2F1', 'score': 11.11}, {'connected_gene': 'PLEKHA3P1', 'score': 4.95}, {'connected_gene': 'CYP2B6', 'score': 0.44}]
chr19	GH19I040962	40962696	40962845	0.78	[{'connected_gene': 'CYP2F1', 'score': 11.57}, {'connected_gene': 'ENSG00000269353', 'score': 0.37}, {'connected_gene': 'CYP2B6', 'score': 0.31}]
chr19	GH19I040960	40960856	40961005	0.38	[{'connected_gene': 'CYP2F1', 'score': 10.83}, {'connected_gene': 'ENSG00000269353', 'score': 0.39}, {'connected_gene': 'CYP2B6', 'score': 0.29}]
chr19	GH19I040970	40970436	40970705	0.2	[{'connected_gene': 'CYP2F1', 'score': 11.06}, {'connected_gene': 'CYP2A7P1', 'score': 10.93}, {'connected_gene': 'ENSG00000269353', 'score': 0.34}, {'connected_gene': 'CYP2B6', 'score': 0.34}]
chr19	GH19I040991	40991235	40991294	0.93	[{'connected_gene': 'CYP2B6', 'score': 550.77}, {'connected_gene': 'CYP2A7P1', 'score': 0.28}]
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	GH19I040974	40974656	40974825	0.74	[{'connected_gene': 'CYP2B6', 'score': 0.37}, {'connected_gene': 'ENSG00000269353', 'score': 0.31}]
chr19	GH19I041003	41003082	41004515	0.31	[{'connected_gene': 'CYP2A7P1', 'score': 11.51}, {'connected_gene': 'CYP2F1', 'score': 11.42}, {'connected_gene': 'CYP2B7P', 'score': 5.77}, {'connected_gene': 'CYP2B6', 'score': 5.57}]