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
ENST00000487500	[[74202505, 74202940], [74203277, 74203372]]	None
ENST00000396467	[[74202518, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74205030], [74205833, 74205868]]	[[74203278, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74204926]]
ENST00000352983	[[74202873, 74202940], [74203277, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74205032], [74205833, 74206133]]	[[74203278, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74205032], [74205833, 74205847]]
ENST00000396466	[[74203274, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74205032], [74207999, 74208024]]	[[74203278, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74204926]]
ENST00000396465	[[74203276, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74205032], [74206100, 74206673]]	[[74203278, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74204926]]
ENST00000466821	[[74203348, 74203896], [74204007, 74204138]]	None
ENST00000435330	[[74204017, 74204145], [74204473, 74204640], [74204923, 74205032], [74205116, 74205157]]	[[74204017, 74204145], [74204473, 74204640], [74204923, 74204926]]
ENST00000431653	[[74204050, 74204145], [74204473, 74204640], [74204923, 74205032], [74205385, 74205577]]	[[74204050, 74204145], [74204473, 74204640], [74204923, 74204926]]
NM_000971	[[74202873, 74202940], [74203277, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74205032], [74205833, 74205869]]	[[74203278, 74203487], [74203786, 74203896], [74204007, 74204145], [74204473, 74204640], [74204923, 74205032], [74205833, 74205847]]

Promoter

Chrom	Start	End	Description
chr8	74205825	74205843	CAGE_peak_4_at_RPL7_5end
chr8	74205851	74205874	CAGE_peak_1_at_RPL7_5end
chr8	74205888	74205923	CAGE_peak_2_at_RPL7_5end
chr8	74206191	74206203	CAGE_peak_15_at_RPL7_5end
chr8	74206559	74206574	CAGE_peak_7_at_RPL7_5end
chr8	74206685	74206724	CAGE_peak_3_at_RPL7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I073291	73291981	73297545	2.27	[{'connected_gene': 'RPL7', 'score': 565.54}, {'connected_gene': 'RDH10', 'score': 550.77}, {'connected_gene': 'RDH10-AS1', 'score': 10.29}]
chr8	GH08I073970	73970118	73973723	2.08	[{'connected_gene': 'TMEM70', 'score': 563.15}, {'connected_gene': 'GC08M073941', 'score': 550.77}, {'connected_gene': 'ELOC', 'score': 550.77}, {'connected_gene': 'ENSG00000253341', 'score': 11.53}, {'connected_gene': 'RPL7', 'score': 10.78}, {'connected_gene': 'GC08P073966', 'score': 0.44}]
chr8	GH08I073975	73975404	73977801	1.98	[{'connected_gene': 'TMEM70', 'score': 575.7}, {'connected_gene': 'RPL7', 'score': 21.44}, {'connected_gene': 'ENSG00000253341', 'score': 13.13}, {'connected_gene': 'ENSG00000272254', 'score': 11.03}, {'connected_gene': 'UBE2W', 'score': 10.35}, {'connected_gene': 'GC08M073979', 'score': 0.77}]
chr8	GH08I073630	73630154	73633832	0.69	[{'connected_gene': 'RDH10', 'score': 19.47}, {'connected_gene': 'RPL7', 'score': 9.76}, {'connected_gene': 'VENTXP6', 'score': 0.37}, {'connected_gene': 'ENSG00000253383', 'score': 0.26}, {'connected_gene': 'STAU2', 'score': 0.13}, {'connected_gene': 'GC08M073613', 'score': 0.12}]
chr8	GH08I073504	73504401	73504800	1.04	[{'connected_gene': 'RDH10', 'score': 10.37}, {'connected_gene': 'RPL7', 'score': 10.37}, {'connected_gene': 'ENSG00000254273', 'score': 0.44}, {'connected_gene': 'GC08M073453', 'score': 0.26}, {'connected_gene': 'STAU2', 'score': 0.07}]
chr8	GH08I073340	73340635	73341835	0.98	[{'connected_gene': 'RDH10', 'score': 10.69}, {'connected_gene': 'RPL7', 'score': 10.69}, {'connected_gene': 'RDH10-AS1', 'score': 0.37}, {'connected_gene': 'GC08P073298', 'score': 0.26}]
chr8	GH08I074048	74048186	74049199	0.96	[{'connected_gene': 'RNU6-1300P', 'score': 550.77}, {'connected_gene': 'RPL7', 'score': 11.37}, {'connected_gene': 'ENSG00000253341', 'score': 9.88}, {'connected_gene': 'TMEM70', 'score': 5.36}, {'connected_gene': 'ENSG00000254288', 'score': 0.77}]
chr8	GH08I072994	72994066	72994295	0.38	[{'connected_gene': 'RNU6-285P', 'score': 12.06}, {'connected_gene': 'RDH10', 'score': 9.51}, {'connected_gene': 'RPL7', 'score': 9.51}, {'connected_gene': 'TERF1', 'score': 0.39}, {'connected_gene': 'ENSG00000260838', 'score': 0.25}]
chr8	GH08I073316	73316256	73319552	0.73	[{'connected_gene': 'RDH10-AS1', 'score': 19.57}, {'connected_gene': 'RDH10', 'score': 11.72}, {'connected_gene': 'RPL7', 'score': 11.72}, {'connected_gene': 'ENSG00000253339', 'score': 11.22}, {'connected_gene': 'GC08P073298', 'score': 0.37}]
chr8	GH08I073326	73326981	73327970	0.86	[{'connected_gene': 'RDH10-AS1', 'score': 12.57}, {'connected_gene': 'ENSG00000253339', 'score': 12.56}, {'connected_gene': 'RDH10', 'score': 11.48}, {'connected_gene': 'RPL7', 'score': 11.48}, {'connected_gene': 'GC08P073298', 'score': 0.31}]
chr8	GH08I073320	73320653	73322541	0.38	[{'connected_gene': 'RDH10-AS1', 'score': 23.77}, {'connected_gene': 'ENSG00000253339', 'score': 12.54}, {'connected_gene': 'RDH10', 'score': 11.5}, {'connected_gene': 'RPL7', 'score': 11.5}, {'connected_gene': 'GC08P073298', 'score': 0.34}]
chr8	GH08I073285	73285826	73286200	0.58	[{'connected_gene': 'C8orf89', 'score': 550.77}, {'connected_gene': 'RPL7', 'score': 10.71}, {'connected_gene': 'RDH10-AS1', 'score': 9.82}, {'connected_gene': 'RDH10', 'score': 0.44}]
chr8	GH08I073330	73330746	73330895	0.74	[{'connected_gene': 'ENSG00000253339', 'score': 12.57}, {'connected_gene': 'RDH10-AS1', 'score': 12.57}, {'connected_gene': 'RDH10', 'score': 11.47}, {'connected_gene': 'RPL7', 'score': 11.47}, {'connected_gene': 'GC08P073298', 'score': 0.29}]