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
ENST00000474471	[[5094122, 5094837], [5097878, 5097965], [5105246, 5105351], [5105687, 5105783], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5115972]]	[[5094583, 5094837], [5097878, 5097965], [5105246, 5105351], [5105687, 5105783], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5115909]]
ENST00000472572	[[5094122, 5094479], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116041]]	[[5094348, 5094479], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5115909]]
ENST00000315997	[[5094122, 5094837], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116111]]	[[5094583, 5094837], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5115909]]
ENST00000350219	[[5094123, 5094837], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116111]]	[[5094583, 5094837], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116023]]
ENST00000422873	[[5094123, 5094479], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116111]]	[[5094348, 5094479], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116023]]
ENST00000591875	[[5110224, 5110437], [5112425, 5112575], [5115701, 5115920]]	None
ENST00000586629	[[5094122, 5094479], [5097878, 5097965], [5105246, 5105378]]	None
ENST00000592343	[[5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108621]]	None
NM_152459	[[5094122, 5094837], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116146]]	[[5094583, 5094837], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5115909]]
NM_001098514	[[5094122, 5094479], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5116146]]	[[5094348, 5094479], [5097878, 5097965], [5105246, 5105351], [5106053, 5106189], [5108493, 5108611], [5110286, 5110437], [5112425, 5112575], [5115701, 5115909]]

Promoter

Chrom	Start	End	Description
chr16	5115838	5115849	CAGE_peak_7_at_C16orf89_5end
chr16	5115913	5115977	CAGE_peak_1_at_C16orf89_5end
chr16	5116025	5116038	CAGE_peak_2_at_C16orf89_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I005017	5017696	5018296	0.43	[{'connected_gene': 'SEC14L5', 'score': 13.74}, {'connected_gene': 'C16orf89', 'score': 11.53}, {'connected_gene': 'UBALD1', 'score': 6.14}, {'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.39}]
chr16	GH16I004930	4930050	4930986	0.2	[{'connected_gene': 'GLYR1', 'score': 11.03}, {'connected_gene': 'UBN1', 'score': 11.03}, {'connected_gene': 'C16orf89', 'score': 10.99}, {'connected_gene': 'ZNF500', 'score': 10.65}, {'connected_gene': 'ENSG00000267077', 'score': 5.55}, {'connected_gene': 'GC16M004952', 'score': 0.34}, {'connected_gene': 'PPL', 'score': 0.29}, {'connected_gene': 'GC16P004899', 'score': 0.29}]
chr16	GH16I005042	5042600	5042629	0.66	[{'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'C16orf89', 'score': 0.34}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005032	5032547	5037549	2.49	[{'connected_gene': 'NAGPA', 'score': 560.03}, {'connected_gene': 'ALG1', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 17.89}, {'connected_gene': 'C16orf89', 'score': 12.75}, {'connected_gene': 'CDIP1', 'score': 11.22}, {'connected_gene': 'PPL', 'score': 10.19}, {'connected_gene': 'NAGPA-AS1', 'score': 0.34}]
chr16	GH16I005027	5026584	5029551	0.43	[{'connected_gene': 'NAGPA', 'score': 12.69}, {'connected_gene': 'C16orf89', 'score': 11.83}, {'connected_gene': 'GLYR1', 'score': 10.39}, {'connected_gene': 'UBN1', 'score': 10.39}, {'connected_gene': 'SEC14L5', 'score': 8.17}, {'connected_gene': 'GC16M005030', 'score': 0.77}, {'connected_gene': 'NAGPA-AS1', 'score': 0.37}]
chr16	GH16I004931	4931045	4932585	0.2	[{'connected_gene': 'ZNF500', 'score': 15.76}, {'connected_gene': 'GLYR1', 'score': 11.03}, {'connected_gene': 'UBN1', 'score': 11.02}, {'connected_gene': 'C16orf89', 'score': 10.99}, {'connected_gene': 'GC16M004952', 'score': 0.34}, {'connected_gene': 'PPL', 'score': 0.31}, {'connected_gene': 'GC16P004899', 'score': 0.29}]
chr16	GH16I005070	5070870	5073210	2.05	[{'connected_gene': 'ZNF500', 'score': 17.89}, {'connected_gene': 'ANKS3', 'score': 10.95}, {'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ENSG00000260882', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.28}]
chr16	GH16I005022	5022389	5023165	0.2	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'SEC14L5', 'score': 5.01}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005021	5021287	5021822	0.2	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'SEC14L5', 'score': 7.13}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005025	5025440	5025589	0.76	[{'connected_gene': 'C16orf89', 'score': 11.82}, {'connected_gene': 'GLYR1', 'score': 10.4}, {'connected_gene': 'UBN1', 'score': 10.4}, {'connected_gene': 'SEC14L5', 'score': 8.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005043	5041980	5042129	0.76	[{'connected_gene': 'C16orf89', 'score': 14.13}, {'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005041	5041760	5041909	0.76	[{'connected_gene': 'C16orf89', 'score': 14.13}, {'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005060	5060960	5060971	0.22	[{'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.31}, {'connected_gene': 'NAGPA', 'score': 0.31}]
chr16	GH16I005058	5058335	5059078	0.49	[{'connected_gene': 'C16orf89', 'score': 4.96}, {'connected_gene': 'ALG1', 'score': 0.34}, {'connected_gene': 'NAGPA', 'score': 0.34}]
chr16	GH16I005056	5056500	5056589	0.64	[{'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.34}, {'connected_gene': 'NAGPA', 'score': 0.34}]
chr16	GH16I005059	5059471	5060386	0.38	[{'connected_gene': 'C16orf89', 'score': 5.21}, {'connected_gene': 'ALG1', 'score': 0.31}, {'connected_gene': 'NAGPA', 'score': 0.31}]
chr16	GH16I005066	5066133	5066192	0.68	[{'connected_gene': 'C16orf89', 'score': 555.82}, {'connected_gene': 'ENSG00000260882', 'score': 0.39}, {'connected_gene': 'ALG1', 'score': 0.29}]
chr16	GH16I005026	5025001	5025201	0.72	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005024	5024700	5024909	0.72	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005020	5020006	5020704	0.54	[{'connected_gene': 'C16orf89', 'score': 11.43}, {'connected_gene': 'NAGPA', 'score': 6.51}, {'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.39}]
chr16	GH16I005064	5064694	5066041	1.35	[{'connected_gene': 'C16orf89', 'score': 574.66}, {'connected_gene': 'ZNF500', 'score': 13.43}, {'connected_gene': 'ALG1', 'score': 0.29}, {'connected_gene': 'NAGPA', 'score': 0.29}]
chr16	GH16I005018	5018940	5019089	0.4	[{'connected_gene': 'C16orf89', 'score': 11.43}, {'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.39}, {'connected_gene': 'SEC14L5', 'score': 0.21}]
chr16	GH16I005029	5029705	5030969	0.38	[{'connected_gene': 'GC16M005030', 'score': 550.77}, {'connected_gene': 'C16orf89', 'score': 11.83}, {'connected_gene': 'GLYR1', 'score': 10.39}, {'connected_gene': 'UBN1', 'score': 10.39}, {'connected_gene': 'NAGPA', 'score': 8.24}, {'connected_gene': 'NAGPA-AS1', 'score': 0.37}]