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
ENST00000393262	[[76738253, 76741567], [76741941, 76742222]]	[[76739592, 76741567], [76741941, 76742138]]
NM_024685	[[76738265, 76741567], [76741941, 76742222]]	[[76739592, 76741567], [76741941, 76742138]]

Promoter

Chrom	Start	End	Description
chr12	76742127	76742147	CAGE_peak_2_at_BBS10_5end
chr12	76742183	76742227	CAGE_peak_1_at_BBS10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I076101	76101415	76102116	0.31	[{'connected_gene': 'BBS10', 'score': 10.24}, {'connected_gene': 'ENSG00000258304', 'score': 0.39}, {'connected_gene': 'NAP1L1', 'score': 0.37}]
chr12	GH12I076103	76103541	76103690	0.64	[{'connected_gene': 'BBS10', 'score': 10.24}, {'connected_gene': 'ENSG00000258304', 'score': 0.39}, {'connected_gene': 'NAP1L1', 'score': 0.37}]
chr12	GH12I076587	76587698	76589999	0.95	[{'connected_gene': 'BBS10', 'score': 11.17}, {'connected_gene': 'OSBPL8', 'score': 10.34}, {'connected_gene': 'GC12P076586', 'score': 0.77}, {'connected_gene': 'RPL7AP9', 'score': 0.39}, {'connected_gene': 'LOC105369850', 'score': 0.31}, {'connected_gene': 'ENSG00000257526', 'score': 0.31}]
chr12	GH12I076469	76469410	76471698	1.02	[{'connected_gene': 'BBS10', 'score': 10.45}, {'connected_gene': 'GC12M076501', 'score': 0.29}, {'connected_gene': 'OSBPL8', 'score': 0.17}]
chr12	GH12I076421	76421681	76423755	1	[{'connected_gene': 'BBS10', 'score': 0.19}, {'connected_gene': 'GC12M076501', 'score': 0.18}, {'connected_gene': 'OSBPL8', 'score': 0.12}]
chr12	GH12I076346	76346519	76349300	2.05	[{'connected_gene': 'BBS10', 'score': 556.6}, {'connected_gene': 'KRR1', 'score': 16.32}, {'connected_gene': 'RN7SKP172', 'score': 0.29}]
chr12	GH12I076336	76336907	76338473	0.43	[{'connected_gene': 'BBS10', 'score': 0.39}, {'connected_gene': 'RN7SKP172', 'score': 0.34}]
chr12	GH12I076328	76328516	76330308	1	[{'connected_gene': 'BBS10', 'score': 6.22}, {'connected_gene': 'RN7SKP172', 'score': 0.39}]
chr12	GH12I076341	76341481	76341630	0.38	[{'connected_gene': 'BBS10', 'score': 0.44}, {'connected_gene': 'RN7SKP172', 'score': 0.31}]
chr12	GH12I076340	76340690	76341366	0.38	[{'connected_gene': 'BBS10', 'score': 0.44}, {'connected_gene': 'RN7SKP172', 'score': 0.31}]
chr12	GH12I076357	76357847	76358159	0.23	[{'connected_gene': 'NAP1L1', 'score': 10.75}, {'connected_gene': 'BBS10', 'score': 0.44}, {'connected_gene': 'GC12M076501', 'score': 0.11}, {'connected_gene': 'OSBPL8', 'score': 0.08}]
chr12	GH12I076151	76151801	76152799	0.57	[{'connected_gene': 'NAP1L1', 'score': 11.27}, {'connected_gene': 'BBS10', 'score': 10.34}, {'connected_gene': 'ENSG00000251893', 'score': 9.33}, {'connected_gene': 'GC12P076140', 'score': 0.39}, {'connected_gene': 'LINC02407', 'score': 0.14}]
chr12	GH12I075919	75919373	75919761	0.42	[{'connected_gene': 'PHLDA1', 'score': 10.94}, {'connected_gene': 'ENSG00000251893', 'score': 9.88}, {'connected_gene': 'BBS10', 'score': 4.54}, {'connected_gene': 'ENSG00000258091', 'score': 0.44}, {'connected_gene': 'ENSG00000258077', 'score': 0.21}, {'connected_gene': 'LOC105369846', 'score': 0.12}]
chr12	GH12I075456	75456761	75458338	0.94	[{'connected_gene': 'GLIPR1L2', 'score': 62.94}, {'connected_gene': 'CAPS2', 'score': 14.23}, {'connected_gene': 'BBS10', 'score': 13.6}, {'connected_gene': 'GLIPR1', 'score': 12.17}, {'connected_gene': 'KRR1', 'score': 10.65}]
chr12	GH12I075553	75553000	75554767	0.66	[{'connected_gene': 'GLIPR1L2', 'score': 29.5}, {'connected_gene': 'ENSG00000257497', 'score': 13.4}, {'connected_gene': 'PHLDA1', 'score': 10.32}, {'connected_gene': 'BBS10', 'score': 9.89}, {'connected_gene': 'GC12P075544', 'score': 0.44}, {'connected_gene': 'PGDP2', 'score': 0.25}]
chr12	GH12I076455	76455151	76458286	1.25	[{'connected_gene': 'OSBPL8', 'score': 5.51}, {'connected_gene': 'GC12M076501', 'score': 0.25}, {'connected_gene': 'BBS10', 'score': 0.14}]
chr12	GH12I076449	76449882	76451613	0.93	[{'connected_gene': 'OSBPL8', 'score': 5.57}, {'connected_gene': 'GC12M076501', 'score': 0.23}, {'connected_gene': 'BBS10', 'score': 0.15}]
chr12	GH12I076557	76557600	76560806	2.07	[{'connected_gene': 'OSBPL8', 'score': 556.14}, {'connected_gene': 'LOC105369850', 'score': 550.77}, {'connected_gene': 'GC12P076557', 'score': 550.77}, {'connected_gene': 'BBS10', 'score': 10.17}]
chr12	GH12I076266	76265802	76268981	0.74	[{'connected_gene': 'LINC02407', 'score': 6.12}, {'connected_gene': 'BBS10', 'score': 5.55}, {'connected_gene': 'NAP1L1', 'score': 4.33}, {'connected_gene': 'GC12M076305', 'score': 0.28}]
chr12	GH12I076258	76258489	76261041	0.92	[{'connected_gene': 'LINC02407', 'score': 556.23}, {'connected_gene': 'BBS10', 'score': 4.41}, {'connected_gene': 'OSBPL8', 'score': 4.39}, {'connected_gene': 'NAP1L1', 'score': 4.34}, {'connected_gene': 'GC12P076140', 'score': 0.13}]
chr12	GH12I076450	76449641	76449830	0.52	[{'connected_gene': 'LINC02407', 'score': 5.05}, {'connected_gene': 'GC12M076501', 'score': 0.23}, {'connected_gene': 'BBS10', 'score': 0.15}, {'connected_gene': 'OSBPL8', 'score': 0.14}]
chr12	GH12I076144	76144201	76144400	0.78	[{'connected_gene': 'LOC100652897', 'score': 26.02}, {'connected_gene': 'KRR1', 'score': 16.53}, {'connected_gene': 'GLIPR1L1', 'score': 14.16}, {'connected_gene': 'CAPS2', 'score': 12.37}, {'connected_gene': 'ZDHHC17', 'score': 11.88}, {'connected_gene': 'BBS10', 'score': 11.21}, {'connected_gene': 'RPL21P98', 'score': 10.26}, {'connected_gene': 'GC12P076140', 'score': 0.77}, {'connected_gene': 'LINC02407', 'score': 0.13}]
chr12	GH12I076586	76586901	76587050	0.57	[{'connected_gene': 'GC12P076586', 'score': 550.77}, {'connected_gene': 'BBS10', 'score': 11.17}, {'connected_gene': 'RPL7AP9', 'score': 0.39}, {'connected_gene': 'ENSG00000257526', 'score': 0.34}, {'connected_gene': 'LOC105369850', 'score': 0.31}]
chr12	GH12I076562	76562401	76562600	0.43	[{'connected_gene': 'ENSG00000257526', 'score': 550.77}, {'connected_gene': 'BBS10', 'score': 10.17}, {'connected_gene': 'LOC105369850', 'score': 0.77}, {'connected_gene': 'GC12P076571', 'score': 0.44}]
chr12	GH12I076472	76472801	76473000	0.52	[{'connected_gene': 'GC12M076501', 'score': 0.29}, {'connected_gene': 'OSBPL8', 'score': 0.17}, {'connected_gene': 'BBS10', 'score': 0.13}]
chr12	GH12I076454	76454801	76454950	0.2	[{'connected_gene': 'GC12M076501', 'score': 0.25}, {'connected_gene': 'OSBPL8', 'score': 0.15}, {'connected_gene': 'BBS10', 'score': 0.14}]