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
ENST00000264027	[[121163161, 121163525], [121174074, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121179403]]	[[121174084, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121178221]]
ENST00000534455	[[121163389, 121163525], [121174074, 121174294], [121175069, 121175634]]	None
ENST00000531140	[[121163467, 121163525], [121174074, 121174294], [121175069, 121175202], [121177094, 121177450]]	None
ENST00000524683	[[121163479, 121163525], [121174074, 121176419]]	None
ENST00000527762	[[121163479, 121163525], [121174074, 121174294], [121175048, 121175202], [121177094, 121177195], [121177765, 121177833]]	[[121174084, 121174294], [121175048, 121175202], [121177094, 121177195], [121177765, 121177833]]
ENST00000534230	[[121163479, 121163525], [121174074, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121177952], [121178165, 121179339]]	[[121174084, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121177952], [121178165, 121178221]]
ENST00000392789	[[121163560, 121163787], [121174074, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121179342]]	[[121174084, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121178221]]
ENST00000528991	[[121175093, 121175202], [121177167, 121177195], [121177765, 121177974]]	None
ENST00000527183	[[121176458, 121177195], [121177765, 121178552]]	None
NM_006918	[[121163387, 121163525], [121174074, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121184119]]	[[121174084, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121178221]]
NM_001024956	[[121163576, 121163787], [121174074, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121184119]]	[[121174084, 121174294], [121175069, 121175202], [121177094, 121177195], [121177765, 121178221]]

Promoter

Chrom	Start	End	Description
chr11	121163390	121163405	CAGE_peak_3_at_SC5DL_5end
chr11	121163421	121163432	CAGE_peak_4_at_SC5DL_5end
chr11	121163434	121163458	CAGE_peak_2_at_SC5DL_5end
chr11	121163466	121163497	CAGE_peak_1_at_SC5DL_5end
chr11	121174071	121174093	CAGE_peak_5_at_SC5DL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I121435	121435542	121436784	1.09	[{'connected_gene': 'SORL1', 'score': 11.69}, {'connected_gene': 'SC5D', 'score': 10.36}, {'connected_gene': 'ENSG00000271022', 'score': 0.44}]
chr11	GH11I121493	121493794	121495510	1.22	[{'connected_gene': 'SORL1', 'score': 17.98}, {'connected_gene': 'LOC105369536', 'score': 11.52}, {'connected_gene': 'SC5D', 'score': 10.38}, {'connected_gene': 'TECTA', 'score': 1.31}, {'connected_gene': 'GC11M121490', 'score': 0.77}, {'connected_gene': 'GC11M121501', 'score': 0.39}]
chr11	GH11I121446	121446853	121458135	2.45	[{'connected_gene': 'SORL1', 'score': 577.62}, {'connected_gene': 'LOC105369536', 'score': 550.77}, {'connected_gene': 'TBCEL', 'score': 11.66}, {'connected_gene': 'SC5D', 'score': 10.06}]
chr11	GH11I121458	121458675	121469604	1.75	[{'connected_gene': 'SC5D', 'score': 10.44}, {'connected_gene': 'TECTA', 'score': 6.62}, {'connected_gene': 'SORL1', 'score': 4.39}, {'connected_gene': 'GC11M121459', 'score': 0.77}, {'connected_gene': 'GC11M121471', 'score': 0.39}]
chr11	GH11I121597	121597612	121598573	0.2	[{'connected_gene': 'SC5D', 'score': 11.35}, {'connected_gene': 'LOC105369536', 'score': 11.34}, {'connected_gene': 'SORL1', 'score': 11.34}, {'connected_gene': 'GC11P121607', 'score': 0.44}, {'connected_gene': 'GC11P121528', 'score': 0.2}]
chr11	GH11I121594	121594714	121597593	0.89	[{'connected_gene': 'SC5D', 'score': 11.35}, {'connected_gene': 'LOC105369536', 'score': 11.34}, {'connected_gene': 'SORL1', 'score': 11.34}, {'connected_gene': 'GC11P121607', 'score': 0.39}, {'connected_gene': 'GC11P121528', 'score': 0.2}]
chr11	GH11I121297	121297405	121299659	1.09	[{'connected_gene': 'SC5D', 'score': 558.09}, {'connected_gene': 'GC11M121292', 'score': 550.77}, {'connected_gene': 'LOC105369536', 'score': 10.15}, {'connected_gene': 'SORL1', 'score': 10.15}]
chr11	GH11I121441	121441126	121442287	0.2	[{'connected_gene': 'SC5D', 'score': 10.36}, {'connected_gene': 'LOC105369536', 'score': 0.39}, {'connected_gene': 'ENSG00000271022', 'score': 0.39}, {'connected_gene': 'SORL1', 'score': 0.39}]
chr11	GH11I120805	120805645	120809554	0.93	[{'connected_gene': 'SC5D', 'score': 4.74}, {'connected_gene': 'LOC105369532', 'score': 0.39}, {'connected_gene': 'GC11P120649', 'score': 0.1}, {'connected_gene': 'GRIK4', 'score': 0.06}]
chr11	GH11I121291	121291567	121294251	2.02	[{'connected_gene': 'SC5D', 'score': 557.13}, {'connected_gene': 'GC11M121292', 'score': 0.44}]
chr11	GH11I120511	120511172	120512201	1.84	[{'connected_gene': 'GRIK4', 'score': 550.77}, {'connected_gene': 'SC5D', 'score': 4.62}, {'connected_gene': 'GC11P120421', 'score': 0.16}]
chr11	GH11I121283	121283093	121283193	0.39	[{'connected_gene': 'LOC105369536', 'score': 10.12}, {'connected_gene': 'SORL1', 'score': 10.12}, {'connected_gene': 'TECTA', 'score': 2.04}, {'connected_gene': 'SC5D', 'score': 0.44}, {'connected_gene': 'RPS4XP12', 'score': 0.29}]
chr11	GH11I121560	121560972	121562058	0.69	[{'connected_gene': 'LOC105369536', 'score': 11.74}, {'connected_gene': 'SORL1', 'score': 11.74}, {'connected_gene': 'SC5D', 'score': 10.21}, {'connected_gene': 'GC11P121528', 'score': 0.29}, {'connected_gene': 'GC11P121607', 'score': 0.25}]
chr11	GH11I121557	121557492	121557641	0.71	[{'connected_gene': 'LOC105369536', 'score': 11.73}, {'connected_gene': 'SORL1', 'score': 11.72}, {'connected_gene': 'SC5D', 'score': 10.21}, {'connected_gene': 'GC11P121528', 'score': 0.31}, {'connected_gene': 'GC11P121607', 'score': 0.23}]
chr11	GH11I121559	121559817	121560941	0.31	[{'connected_gene': 'LOC105369536', 'score': 11.72}, {'connected_gene': 'SORL1', 'score': 11.72}, {'connected_gene': 'SC5D', 'score': 10.21}, {'connected_gene': 'GC11P121528', 'score': 0.29}, {'connected_gene': 'GC11P121607', 'score': 0.25}]
chr11	GH11I121553	121553482	121554917	0.86	[{'connected_gene': 'LOC105369536', 'score': 11.17}, {'connected_gene': 'SORL1', 'score': 11.17}, {'connected_gene': 'SC5D', 'score': 10.47}, {'connected_gene': 'GC11P121528', 'score': 0.31}, {'connected_gene': 'GC11P121607', 'score': 0.23}]
chr11	GH11I121319	121319201	121319601	0.86	[{'connected_gene': 'LOC105369536', 'score': 11.85}, {'connected_gene': 'SORL1', 'score': 11.85}, {'connected_gene': 'SC5D', 'score': 11.59}, {'connected_gene': 'GC11M121292', 'score': 0.37}, {'connected_gene': 'GC11M121336', 'score': 0.34}]
chr11	GH11I121495	121495516	121498714	0.31	[{'connected_gene': 'LOC105369536', 'score': 11.52}, {'connected_gene': 'SORL1', 'score': 11.52}, {'connected_gene': 'SC5D', 'score': 11.06}, {'connected_gene': 'GC11M121490', 'score': 0.44}, {'connected_gene': 'GC11M121501', 'score': 0.39}]
chr11	GH11I121486	121486607	121490589	0.31	[{'connected_gene': 'LOC105369536', 'score': 11.68}, {'connected_gene': 'SORL1', 'score': 11.68}, {'connected_gene': 'SC5D', 'score': 10.24}, {'connected_gene': 'PIR43409', 'score': 0.77}, {'connected_gene': 'GC11M121490', 'score': 0.77}]
chr11	GH11I121235	121235079	121242902	1.61	[{'connected_gene': 'LOC105369533', 'score': 550.77}, {'connected_gene': 'SC5D', 'score': 9.21}, {'connected_gene': 'LOC105369534', 'score': 0.44}]
chr11	GH11I121248	121248637	121249467	0.76	[{'connected_gene': 'RPS4XP12', 'score': 550.77}, {'connected_gene': 'SC5D', 'score': 17.9}, {'connected_gene': 'LOC105369534', 'score': 0.77}]
chr11	GH11I121514	121514148	121515377	0.66	[{'connected_gene': 'GC11P121513', 'score': 550.77}, {'connected_gene': 'SC5D', 'score': 10.43}, {'connected_gene': 'GC11P121528', 'score': 0.39}, {'connected_gene': 'SORL1', 'score': 0.21}]
chr11	GH11I121508	121508050	121509181	0.51	[{'connected_gene': 'GC11P121509', 'score': 550.77}, {'connected_gene': 'GC11M121501', 'score': 550.77}, {'connected_gene': 'LOC105369536', 'score': 11.64}, {'connected_gene': 'SORL1', 'score': 11.64}, {'connected_gene': 'SC5D', 'score': 11.06}]