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
ENST00000369160	[[228645807, 228646259]]	[[228645830, 228646211]]
NM_175055	[[228645807, 228646259]]	[[228645830, 228646211]]

Promoter

Chrom	Start	End	Description
chr1	228645796	228645822	CAGE_peak_1_at_HIST3H2BB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I228455	228455800	228460001	2.32	[{'connected_gene': 'HIST3H2A', 'score': 550.77}, {'connected_gene': 'HIST3H2BB', 'score': 550.77}, {'connected_gene': 'GC01M228457', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 103.44}, {'connected_gene': 'C1orf35', 'score': 50.68}, {'connected_gene': 'ENSG00000269890', 'score': 39.66}, {'connected_gene': 'ZNF678', 'score': 27.06}, {'connected_gene': 'HIST3H3', 'score': 21.27}, {'connected_gene': 'LOC105373159', 'score': 11.88}, {'connected_gene': 'JMJD4', 'score': 10.55}, {'connected_gene': 'BTNL10', 'score': 10.46}, {'connected_gene': 'MRPL55', 'score': 10.42}, {'connected_gene': 'ENSG00000269934', 'score': 10.4}, {'connected_gene': 'IBA57-AS1', 'score': 10.19}, {'connected_gene': 'OBSCN', 'score': 10.11}, {'connected_gene': 'ARF1', 'score': 9.76}]
chr1	GH01I228511	228511900	228512042	0.2	[{'connected_gene': 'HIST3H2A', 'score': 11.58}, {'connected_gene': 'HIST3H2BB', 'score': 11.58}, {'connected_gene': 'RPL23AP15', 'score': 11.56}, {'connected_gene': 'ENSG00000231563', 'score': 10.88}, {'connected_gene': 'TRIM11', 'score': 10.87}, {'connected_gene': 'BTNL10', 'score': 0.77}, {'connected_gene': 'LOC105373124', 'score': 0.77}]
chr1	GH01I228510	228510433	228510556	0.31	[{'connected_gene': 'HIST3H2A', 'score': 11.58}, {'connected_gene': 'HIST3H2BB', 'score': 11.58}, {'connected_gene': 'RPL23AP15', 'score': 11.56}, {'connected_gene': 'ENSG00000231563', 'score': 10.88}, {'connected_gene': 'TRIM11', 'score': 10.88}, {'connected_gene': 'BTNL10', 'score': 0.77}, {'connected_gene': 'LOC105373124', 'score': 0.77}]
chr1	GH01I228130	228130601	228132621	1.22	[{'connected_gene': 'OBSCN', 'score': 12.21}, {'connected_gene': 'C1orf35', 'score': 12.01}, {'connected_gene': 'OBSCN-AS1', 'score': 11.31}, {'connected_gene': 'RPL23AP15', 'score': 10.91}, {'connected_gene': 'HIST3H2A', 'score': 10.9}, {'connected_gene': 'HIST3H2BB', 'score': 10.9}, {'connected_gene': 'GC01M228135', 'score': 0.77}, {'connected_gene': 'ENSG00000280157', 'score': 0.39}]
chr1	GH01I228268	228268065	228270896	0.66	[{'connected_gene': 'OBSCN', 'score': 50.37}, {'connected_gene': 'ENSG00000269934', 'score': 11.34}, {'connected_gene': 'OBSCN-AS1', 'score': 11.19}, {'connected_gene': 'RPL23AP15', 'score': 10.45}, {'connected_gene': 'HIST3H2A', 'score': 10.45}, {'connected_gene': 'HIST3H2BB', 'score': 10.45}, {'connected_gene': 'ENSG00000269890', 'score': 0.77}, {'connected_gene': 'GC01P228217', 'score': 0.23}]
chr1	GH01I228240	228240020	228241346	0.51	[{'connected_gene': 'OBSCN', 'score': 12.83}, {'connected_gene': 'ENSG00000269934', 'score': 11.3}, {'connected_gene': 'RPL23AP15', 'score': 10.19}, {'connected_gene': 'HIST3H2A', 'score': 10.19}, {'connected_gene': 'HIST3H2BB', 'score': 10.19}, {'connected_gene': 'GC01P228217', 'score': 0.34}, {'connected_gene': 'ENSG00000269890', 'score': 0.29}]
chr1	GH01I228222	228222195	228223462	0.38	[{'connected_gene': 'OBSCN', 'score': 45.27}, {'connected_gene': 'RPL23AP15', 'score': 10.78}, {'connected_gene': 'HIST3H2A', 'score': 10.77}, {'connected_gene': 'HIST3H2BB', 'score': 10.77}, {'connected_gene': 'GC01P228217', 'score': 0.44}, {'connected_gene': 'ENSG00000269890', 'score': 0.23}]
chr1	GH01I228500	228500001	228501800	1.52	[{'connected_gene': 'HIST3H3', 'score': 19.19}, {'connected_gene': 'ZNF678', 'score': 14.69}, {'connected_gene': 'HIST3H2A', 'score': 13.23}, {'connected_gene': 'HIST3H2BB', 'score': 11.96}, {'connected_gene': 'RPL23AP15', 'score': 11.93}, {'connected_gene': 'CICP26', 'score': 11.1}, {'connected_gene': 'OBSCN-AS1', 'score': 10.66}, {'connected_gene': 'OBSCN', 'score': 10.66}, {'connected_gene': 'C1orf35', 'score': 9.78}, {'connected_gene': 'RNF187', 'score': 9.25}, {'connected_gene': 'LOC105373124', 'score': 0.44}, {'connected_gene': 'ENSG00000279306', 'score': 0.39}]
chr1	GH01I228373	228373992	228376074	1.06	[{'connected_gene': 'TRIM11', 'score': 16.26}, {'connected_gene': 'OBSCN', 'score': 15.17}, {'connected_gene': 'ENSG00000231563', 'score': 11.98}, {'connected_gene': 'RPL23AP15', 'score': 11.24}, {'connected_gene': 'HIST3H2A', 'score': 11.22}, {'connected_gene': 'HIST3H2BB', 'score': 11.22}, {'connected_gene': 'OBSCN-AS1', 'score': 10.73}, {'connected_gene': 'LOC101927401', 'score': 0.44}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}]
chr1	GH01I228092	228092275	228093134	0.46	[{'connected_gene': 'IBA57-AS1', 'score': 13.32}, {'connected_gene': 'RPL23AP15', 'score': 9.5}, {'connected_gene': 'HIST3H2A', 'score': 9.49}, {'connected_gene': 'HIST3H2BB', 'score': 9.49}, {'connected_gene': 'MIR3620', 'score': 0.77}, {'connected_gene': 'ARF1', 'score': 0.39}]
chr1	GH01I228212	228212580	228217385	1.67	[{'connected_gene': 'OBSCN-AS1', 'score': 557.18}, {'connected_gene': 'PIR37830', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 38.86}, {'connected_gene': 'ZNF678', 'score': 21.22}, {'connected_gene': 'C1orf35', 'score': 19.79}, {'connected_gene': 'CICP26', 'score': 18.11}, {'connected_gene': 'RPL23AP15', 'score': 10.77}, {'connected_gene': 'HIST3H2A', 'score': 10.77}, {'connected_gene': 'HIST3H2BB', 'score': 10.77}, {'connected_gene': 'HIST3H3', 'score': 10.58}, {'connected_gene': 'ENSG00000269890', 'score': 10.53}]
chr1	GH01I228137	228137689	228146440	2.3	[{'connected_gene': 'GUK1', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 49.82}, {'connected_gene': 'CICP26', 'score': 31.83}, {'connected_gene': 'CDC42BPA', 'score': 23.49}, {'connected_gene': 'ENSG00000269890', 'score': 22.8}, {'connected_gene': 'OBSCN-AS1', 'score': 16.65}, {'connected_gene': 'FAM96AP2', 'score': 12.63}, {'connected_gene': 'MRPL55', 'score': 12.61}, {'connected_gene': 'JMJD4', 'score': 10.57}, {'connected_gene': 'HIST3H3', 'score': 10.07}, {'connected_gene': 'RPL23AP15', 'score': 9.97}, {'connected_gene': 'HIST3H2A', 'score': 9.97}, {'connected_gene': 'HIST3H2BB', 'score': 9.97}, {'connected_gene': 'ENSG00000269934', 'score': 9.73}, {'connected_gene': 'ZNF678', 'score': 9.66}, {'connected_gene': 'GC01P228138', 'score': 0.77}, {'connected_gene': 'GJC2', 'score': 0.44}]
chr1	GH01I228512	228512064	228512273	0.2	[{'connected_gene': 'BTNL10', 'score': 550.77}, {'connected_gene': 'HIST3H2A', 'score': 11.58}, {'connected_gene': 'HIST3H2BB', 'score': 11.58}, {'connected_gene': 'RPL23AP15', 'score': 11.56}, {'connected_gene': 'ENSG00000231563', 'score': 10.88}, {'connected_gene': 'TRIM11', 'score': 10.87}, {'connected_gene': 'LOC105373124', 'score': 0.77}]
chr1	GH01I228275	228275040	228277082	1.36	[{'connected_gene': 'ENSG00000269934', 'score': 561.3}, {'connected_gene': 'ENSG00000269890', 'score': 560.79}, {'connected_gene': 'OBSCN', 'score': 23.95}, {'connected_gene': 'CICP26', 'score': 12.91}, {'connected_gene': 'OBSCN-AS1', 'score': 11.71}, {'connected_gene': 'ENSG00000231563', 'score': 11.23}, {'connected_gene': 'TRIM11', 'score': 11.23}, {'connected_gene': 'RPL23AP15', 'score': 10.39}, {'connected_gene': 'HIST3H2A', 'score': 10.39}, {'connected_gene': 'HIST3H2BB', 'score': 10.39}, {'connected_gene': 'ENSG00000270110', 'score': 4.97}]
chr1	GH01I228218	228218245	228219214	0.31	[{'connected_gene': 'GC01P228217', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 42.75}, {'connected_gene': 'ENSG00000269890', 'score': 11.03}, {'connected_gene': 'RPL23AP15', 'score': 10.77}, {'connected_gene': 'HIST3H2A', 'score': 10.77}, {'connected_gene': 'HIST3H2BB', 'score': 10.77}]
chr1	GH01I228377	228377791	228379612	1.35	[{'connected_gene': 'ENSG00000231563', 'score': 12.0}, {'connected_gene': 'TRIM11', 'score': 12.0}, {'connected_gene': 'RPL23AP15', 'score': 11.24}, {'connected_gene': 'HIST3H2A', 'score': 11.23}, {'connected_gene': 'HIST3H2BB', 'score': 11.23}, {'connected_gene': 'OBSCN-AS1', 'score': 10.73}, {'connected_gene': 'OBSCN', 'score': 10.72}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}, {'connected_gene': 'LOC101927401', 'score': 0.39}]
chr1	GH01I228136	228136860	228137573	0.58	[{'connected_gene': 'GC01P228138', 'score': 550.77}, {'connected_gene': 'RPS28P3', 'score': 550.77}, {'connected_gene': 'FAM96AP2', 'score': 12.66}, {'connected_gene': 'MRPL55', 'score': 12.63}, {'connected_gene': 'OBSCN', 'score': 11.54}, {'connected_gene': 'OBSCN-AS1', 'score': 11.53}, {'connected_gene': 'RPL23AP15', 'score': 9.97}, {'connected_gene': 'HIST3H2A', 'score': 9.96}, {'connected_gene': 'HIST3H2BB', 'score': 9.96}]
chr1	GH01I228393	228392900	228394772	0.63	[{'connected_gene': 'ENSG00000270094', 'score': 550.77}, {'connected_gene': 'RPL23AP15', 'score': 11.58}, {'connected_gene': 'HIST3H2A', 'score': 11.57}, {'connected_gene': 'HIST3H2BB', 'score': 11.57}, {'connected_gene': 'HIST3H3', 'score': 11.34}, {'connected_gene': 'OBSCN-AS1', 'score': 10.61}, {'connected_gene': 'OBSCN', 'score': 10.6}, {'connected_gene': 'TRIM17', 'score': 5.71}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}, {'connected_gene': 'TRIM11', 'score': 0.39}]
chr1	GH01I228392	228392311	228392792	0.82	[{'connected_gene': 'ENSG00000270094', 'score': 550.77}, {'connected_gene': 'RPL23AP15', 'score': 11.58}, {'connected_gene': 'HIST3H2A', 'score': 11.56}, {'connected_gene': 'HIST3H2BB', 'score': 11.56}, {'connected_gene': 'OBSCN-AS1', 'score': 10.61}, {'connected_gene': 'OBSCN', 'score': 10.61}, {'connected_gene': 'TRIM17', 'score': 5.72}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}]
chr1	GH01I228463	228463476	228465899	1.92	[{'connected_gene': 'GC01P228464', 'score': 550.77}, {'connected_gene': 'HIST3H2BA', 'score': 550.77}, {'connected_gene': 'ENSG00000231563', 'score': 10.46}, {'connected_gene': 'TRIM11', 'score': 10.46}, {'connected_gene': 'OBSCN', 'score': 10.08}, {'connected_gene': 'HIST3H2BB', 'score': 3.99}, {'connected_gene': 'HIST3H2A', 'score': 3.64}, {'connected_gene': 'RNF187', 'score': 0.34}]
chr1	GH01I229418	229418562	229420062	0.2	[{'connected_gene': 'GC01M229362', 'score': 550.77}, {'connected_gene': 'HIST3H2BB', 'score': 5.69}, {'connected_gene': 'ENSG00000230331', 'score': 0.44}]