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
ENST00000392539	[[176957618, 176958399], [176959207, 176960666]]	[[176957618, 176958399], [176959207, 176959458]]
NM_000523	[[176957531, 176958399], [176959207, 176960666]]	[[176957618, 176958399], [176959207, 176959458]]

Promoter

Chrom	Start	End	Description
chr2	176957417	176957431	CAGE_peak_2_at_HOXD13_5end
chr2	176957443	176957457	CAGE_peak_1_at_HOXD13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I175605	175605782	175606774	0.94	[{'connected_gene': 'HOXD13', 'score': 5.53}, {'connected_gene': 'ATP5MC3', 'score': 5.26}, {'connected_gene': 'GC02P175563', 'score': 0.26}, {'connected_gene': 'PIR35160', 'score': 0.18}, {'connected_gene': 'GC02P175686', 'score': 0.18}]
chr2	GH02I176092	176092752	176092811	0.99	[{'connected_gene': 'HOXD13', 'score': 550.44}, {'connected_gene': 'HOXD12', 'score': 0.44}]
chr2	GH02I175440	175440728	175440928	0.51	[{'connected_gene': 'HOXD13', 'score': 7.03}, {'connected_gene': 'PIR53550', 'score': 0.21}, {'connected_gene': 'GC02M175297', 'score': 0.11}, {'connected_gene': 'LOC105373752', 'score': 0.09}]
chr2	GH02I176116	176116613	176116762	0.62	[{'connected_gene': 'HOXD13', 'score': 17.52}, {'connected_gene': 'HOXD-AS2', 'score': 11.42}, {'connected_gene': 'HOXD9', 'score': 0.44}, {'connected_gene': 'HOXD10', 'score': 0.44}]
chr2	GH02I175575	175575753	175575902	0.49	[{'connected_gene': 'HOXD13', 'score': 5.08}, {'connected_gene': 'GC02P175563', 'score': 0.39}, {'connected_gene': 'PIR35160', 'score': 0.14}, {'connected_gene': 'GC02P175686', 'score': 0.14}]
chr2	GH02I175531	175531364	175533048	0.31	[{'connected_gene': 'HOXD13', 'score': 8.1}, {'connected_gene': 'GC02P175553', 'score': 0.34}, {'connected_gene': 'PIR53550', 'score': 0.31}]
chr2	GH02I176096	176096463	176098282	0.94	[{'connected_gene': 'HOXD12', 'score': 550.77}, {'connected_gene': 'HAGLROS', 'score': 6.73}, {'connected_gene': 'LNPK', 'score': 5.12}, {'connected_gene': 'HOXD13', 'score': 0.44}]
chr2	GH02I176105	176105133	176105568	0.97	[{'connected_gene': 'HOXD11', 'score': 569.68}, {'connected_gene': 'HOXD13', 'score': 7.94}, {'connected_gene': 'HOXD10', 'score': 5.88}, {'connected_gene': 'HOXD9', 'score': 3.19}, {'connected_gene': 'HOXD8', 'score': 2.9}, {'connected_gene': 'HOXD3', 'score': 1.79}]
chr2	GH02I176552	176552179	176555202	1.32	[{'connected_gene': 'HNRNPA3', 'score': 14.81}, {'connected_gene': 'HOXD4', 'score': 11.42}, {'connected_gene': 'HOXD3', 'score': 11.42}, {'connected_gene': 'HOXD-AS2', 'score': 11.25}, {'connected_gene': 'MIR10B', 'score': 10.48}, {'connected_gene': 'HAGLR', 'score': 10.2}, {'connected_gene': 'HOXD1', 'score': 10.2}, {'connected_gene': 'HOXD13', 'score': 9.54}, {'connected_gene': 'ENSG00000236231', 'score': 0.34}, {'connected_gene': 'GC02P176590', 'score': 0.28}]
chr2	GH02I176177	176177335	176179500	0.9	[{'connected_gene': 'HAGLROS', 'score': 582.37}, {'connected_gene': 'HAGLR', 'score': 15.04}, {'connected_gene': 'HOXD1', 'score': 12.62}, {'connected_gene': 'HOXD4', 'score': 11.51}, {'connected_gene': 'HOXD3', 'score': 11.46}, {'connected_gene': 'HOXD-AS2', 'score': 10.96}, {'connected_gene': 'MIR10B', 'score': 10.41}, {'connected_gene': 'HOXD11', 'score': 9.9}, {'connected_gene': 'HOXD12', 'score': 9.89}, {'connected_gene': 'HOXD10', 'score': 9.7}, {'connected_gene': 'HOXD13', 'score': 9.4}]
chr2	GH02I176159	176159703	176162723	0.54	[{'connected_gene': 'HAGLROS', 'score': 29.24}, {'connected_gene': 'HAGLR', 'score': 27.29}, {'connected_gene': 'HOXD1', 'score': 24.54}, {'connected_gene': 'HOXD-AS2', 'score': 11.78}, {'connected_gene': 'HOXD9', 'score': 11.72}, {'connected_gene': 'HOXD3', 'score': 11.63}, {'connected_gene': 'HOXD8', 'score': 11.59}, {'connected_gene': 'HOXD10', 'score': 11.41}, {'connected_gene': 'HOXD11', 'score': 11.4}, {'connected_gene': 'HOXD13', 'score': 11.27}, {'connected_gene': 'HOXD12', 'score': 10.98}, {'connected_gene': 'ENSG00000272729', 'score': 0.77}, {'connected_gene': 'ENSG00000278500', 'score': 0.39}]
chr2	GH02I176171	176171373	176171522	0.49	[{'connected_gene': 'HAGLROS', 'score': 33.37}, {'connected_gene': 'HOXD-AS2', 'score': 11.27}, {'connected_gene': 'HOXD3', 'score': 11.27}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.56}, {'connected_gene': 'HOXD13', 'score': 10.49}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2	GH02I176173	176172853	176173002	0.75	[{'connected_gene': 'HOXD-AS2', 'score': 11.25}, {'connected_gene': 'HOXD3', 'score': 11.25}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.55}, {'connected_gene': 'HOXD13', 'score': 10.48}, {'connected_gene': 'HAGLROS', 'score': 0.77}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2	GH02I176172	176171813	176171962	0.49	[{'connected_gene': 'HOXD-AS2', 'score': 11.27}, {'connected_gene': 'HOXD3', 'score': 11.25}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.56}, {'connected_gene': 'HOXD13', 'score': 10.49}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'HAGLROS', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2	GH02I175688	175688277	175688503	0.51	[{'connected_gene': 'PIR60891', 'score': 550.77}, {'connected_gene': 'HOXD13', 'score': 5.33}, {'connected_gene': 'GC02P175767', 'score': 0.18}]