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
ENST00000172229	[[47572654, 47572845], [47579424, 47579566], [47583660, 47584020], [47587773, 47588026], [47589253, 47589414], [47590069, 47592379]]	[[47572779, 47572845], [47579424, 47579566], [47583660, 47584020], [47587773, 47588026], [47589253, 47589414], [47590069, 47590371]]
ENST00000509200	[[47573985, 47574459], [47579424, 47579566], [47583660, 47583747]]	[[47583734, 47583747]]
ENST00000504201	[[47574752, 47575011], [47579424, 47579566], [47583660, 47584020], [47587773, 47588026], [47589253, 47589414], [47590069, 47590734]]	[[47583734, 47584020], [47587773, 47588026], [47589253, 47589414], [47590069, 47590371]]
NM_002507	[[47572654, 47572845], [47579424, 47579566], [47583660, 47584020], [47587773, 47588026], [47589253, 47589414], [47590069, 47592382]]	[[47572779, 47572845], [47579424, 47579566], [47583660, 47584020], [47587773, 47588026], [47589253, 47589414], [47590069, 47590371]]

Promoter

Chrom	Start	End	Description
chr17	47572647	47572662	CAGE_peak_1_at_NGFR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I049435	49435179	49435328	0.68	[{'connected_gene': 'PHB', 'score': 12.05}, {'connected_gene': 'ENSG00000250186', 'score': 12.0}, {'connected_gene': 'RPL21P124', 'score': 12.0}, {'connected_gene': 'NGFR', 'score': 11.55}, {'connected_gene': 'LOC100288866', 'score': 10.49}, {'connected_gene': 'NXPH3', 'score': 10.48}, {'connected_gene': 'EIF4EP2', 'score': 0.39}, {'connected_gene': 'LINC02075', 'score': 0.31}, {'connected_gene': 'ENSG00000262039', 'score': 0.21}]
chr17	GH17I049505	49505939	49506088	0.31	[{'connected_gene': 'PHB', 'score': 10.84}, {'connected_gene': 'ENSG00000250186', 'score': 10.83}, {'connected_gene': 'RPL21P124', 'score': 10.83}, {'connected_gene': 'MIR6165', 'score': 0.77}, {'connected_gene': 'ENSG00000279036', 'score': 0.44}, {'connected_gene': 'NGFR', 'score': 0.39}, {'connected_gene': 'LOC100288866', 'score': 0.2}]
chr17	GH17I049469	49469757	49472067	0.74	[{'connected_gene': 'NGFR', 'score': 12.8}, {'connected_gene': 'PHB', 'score': 11.07}, {'connected_gene': 'ENSG00000250186', 'score': 11.06}, {'connected_gene': 'RPL21P124', 'score': 11.05}, {'connected_gene': 'DLX3', 'score': 9.64}, {'connected_gene': 'ENSG00000248172', 'score': 9.64}, {'connected_gene': 'LINC02075', 'score': 0.44}, {'connected_gene': 'ENSG00000262039', 'score': 0.15}]
chr17	GH17I049519	49519431	49523090	0.52	[{'connected_gene': 'NGFR', 'score': 17.53}, {'connected_gene': 'PHB', 'score': 12.01}, {'connected_gene': 'ENSG00000250186', 'score': 10.8}, {'connected_gene': 'RPL21P124', 'score': 10.8}, {'connected_gene': 'NXPH3', 'score': 10.74}, {'connected_gene': 'LOC100288866', 'score': 10.74}, {'connected_gene': 'ENSG00000248172', 'score': 9.52}, {'connected_gene': 'DLX3', 'score': 9.52}, {'connected_gene': 'MIR6165', 'score': 0.39}]
chr17	GH17I049494	49494979	49495601	1.76	[{'connected_gene': 'NGFR', 'score': 550.77}, {'connected_gene': 'ENSG00000279036', 'score': 0.77}, {'connected_gene': 'LINC02075', 'score': 0.29}]
chr17	GH17I049495	49494319	49494468	0.38	[{'connected_gene': 'NGFR', 'score': 550.77}, {'connected_gene': 'ENSG00000279036', 'score': 0.77}, {'connected_gene': 'LINC02075', 'score': 0.29}]
chr17	GH17I049496	49496479	49496668	0.76	[{'connected_gene': 'NGFR', 'score': 550.77}, {'connected_gene': 'ENSG00000279036', 'score': 550.77}]
chr17	GH17I049513	49513749	49516631	1.24	[{'connected_gene': 'KAT7', 'score': 14.69}, {'connected_gene': 'ENSG00000262837', 'score': 11.78}, {'connected_gene': 'PHB', 'score': 10.83}, {'connected_gene': 'ENSG00000250186', 'score': 10.81}, {'connected_gene': 'RPL21P124', 'score': 10.81}, {'connected_gene': 'ENSG00000248172', 'score': 9.44}, {'connected_gene': 'DLX3', 'score': 9.44}, {'connected_gene': 'XYLT2', 'score': 4.94}, {'connected_gene': 'MIR6165', 'score': 0.77}, {'connected_gene': 'NGFR', 'score': 0.37}, {'connected_gene': 'LOC100288866', 'score': 0.22}]
chr17	GH17I049487	49487299	49487448	0.54	[{'connected_gene': 'LOC100288866', 'score': 10.45}, {'connected_gene': 'NXPH3', 'score': 10.45}, {'connected_gene': 'NGFR', 'score': 0.44}, {'connected_gene': 'LINC02075', 'score': 0.31}]
chr17	GH17I049486	49486001	49487249	0.69	[{'connected_gene': 'LOC100288866', 'score': 10.45}, {'connected_gene': 'NXPH3', 'score': 10.45}, {'connected_gene': 'NGFR', 'score': 0.44}, {'connected_gene': 'LINC02075', 'score': 0.34}]
chr17	GH17I049453	49453879	49454829	0.7	[{'connected_gene': 'ENSG00000207127', 'score': 12.32}, {'connected_gene': 'PHB', 'score': 12.32}, {'connected_gene': 'NGFR', 'score': 11.82}, {'connected_gene': 'ENSG00000250186', 'score': 11.52}, {'connected_gene': 'RPL21P124', 'score': 11.52}, {'connected_gene': 'SPOP', 'score': 10.11}, {'connected_gene': 'ENSG00000248172', 'score': 9.62}, {'connected_gene': 'DLX3', 'score': 9.62}, {'connected_gene': 'LINC02075', 'score': 0.44}, {'connected_gene': 'EIF4EP2', 'score': 0.31}, {'connected_gene': 'ENSG00000262039', 'score': 0.18}]
chr17	GH17I049438	49438096	49440800	0.74	[{'connected_gene': 'ENSG00000207127', 'score': 11.9}, {'connected_gene': 'PHB', 'score': 11.9}, {'connected_gene': 'NGFR', 'score': 11.85}, {'connected_gene': 'ENSG00000250186', 'score': 11.59}, {'connected_gene': 'RPL21P124', 'score': 11.59}, {'connected_gene': 'NXPH3', 'score': 10.87}, {'connected_gene': 'LOC100288866', 'score': 10.87}, {'connected_gene': 'PHOSPHO1', 'score': 10.35}, {'connected_gene': 'ENSG00000248172', 'score': 9.7}, {'connected_gene': 'DLX3', 'score': 9.7}, {'connected_gene': 'FLJ45513', 'score': 7.34}, {'connected_gene': 'EIF4EP2', 'score': 0.39}, {'connected_gene': 'LINC02075', 'score': 0.34}, {'connected_gene': 'ENSG00000262039', 'score': 0.2}]
chr17	GH17I049455	49455687	49456901	0.66	[{'connected_gene': 'ENSG00000207127', 'score': 11.37}, {'connected_gene': 'PHB', 'score': 11.35}, {'connected_gene': 'NGFR', 'score': 11.11}, {'connected_gene': 'ENSG00000250186', 'score': 11.08}, {'connected_gene': 'RPL21P124', 'score': 11.07}, {'connected_gene': 'LINC02075', 'score': 0.44}, {'connected_gene': 'EIF4EP2', 'score': 0.29}, {'connected_gene': 'ENSG00000262039', 'score': 0.17}]
chr17	GH17I049507	49507644	49509681	1.36	[{'connected_gene': 'ENSG00000207127', 'score': 11.19}, {'connected_gene': 'PHB', 'score': 11.19}, {'connected_gene': 'ENSG00000250186', 'score': 10.99}, {'connected_gene': 'RPL21P124', 'score': 10.99}, {'connected_gene': 'ATP5MC1', 'score': 4.95}, {'connected_gene': 'HOXB3', 'score': 4.34}, {'connected_gene': 'MIR6165', 'score': 0.77}, {'connected_gene': 'NGFR', 'score': 0.39}, {'connected_gene': 'ENSG00000279036', 'score': 0.39}, {'connected_gene': 'LOC100288866', 'score': 0.2}]
chr17	GH17I049498	49498139	49498288	0.56	[{'connected_gene': 'ENSG00000279036', 'score': 550.77}, {'connected_gene': 'NGFR', 'score': 0.77}, {'connected_gene': 'MIR6165', 'score': 0.39}]
chr17	GH17I049497	49497559	49497968	0.84	[{'connected_gene': 'ENSG00000279036', 'score': 550.77}, {'connected_gene': 'NGFR', 'score': 0.77}]