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
ENST00000342016	[[175212749, 175213900], [175215387, 175215473], [175216346, 175216453], [175243650, 175243768], [175244929, 175244978], [175245378, 175245443], [175245531, 175245542], [175246431, 175246505], [175252412, 175252507], [175260278, 175260443]]	[[175213224, 175213900], [175215387, 175215473], [175216346, 175216453], [175243650, 175243768], [175244929, 175244978], [175245378, 175245443], [175245531, 175245542], [175246431, 175246505], [175252412, 175252507], [175260278, 175260350]]
ENST00000362053	[[175212879, 175213900], [175215387, 175215473], [175216346, 175216453], [175234714, 175234742], [175243650, 175243768], [175244929, 175244978], [175245378, 175245443], [175245531, 175245542], [175246431, 175246505], [175252412, 175252507], [175260278, 175260443]]	[[175216356, 175216453], [175234714, 175234742], [175243650, 175243768], [175244929, 175244978], [175245378, 175245443], [175245531, 175245542], [175246431, 175246505], [175252412, 175252507], [175260278, 175260350]]
ENST00000377973	[[175222900, 175223264], [175243650, 175243768], [175244929, 175244978], [175245378, 175245408]]	[[175223172, 175223264], [175243650, 175243768], [175244929, 175244978], [175245378, 175245408]]
ENST00000464393	[[175213862, 175213900], [175215387, 175215473], [175216346, 175216691]]	None
ENST00000461454	[[175243414, 175243768], [175244929, 175244978], [175245378, 175245443], [175245531, 175245542], [175246431, 175246505], [175252412, 175252507], [175260278, 175260434]]	None
ENST00000472169	[[175251990, 175252507], [175260278, 175260437]]	None
NM_004882	[[175212877, 175213900], [175215387, 175215473], [175216346, 175216453], [175243650, 175243768], [175244929, 175244978], [175245378, 175245443], [175245531, 175245542], [175246431, 175246505], [175252412, 175252507], [175260278, 175260443]]	[[175213224, 175213900], [175215387, 175215473], [175216346, 175216453], [175243650, 175243768], [175244929, 175244978], [175245378, 175245443], [175245531, 175245542], [175246431, 175246505], [175252412, 175252507], [175260278, 175260350]]

Promoter

Chrom	Start	End	Description
chr2	175260368	175260450	CAGE_peak_1_at_CIR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I175233	175233233	175233362	0.69	[{'connected_gene': 'CIR1', 'score': 11.33}, {'connected_gene': 'ATP5MC3', 'score': 9.57}, {'connected_gene': 'GC02P175236', 'score': 0.77}, {'connected_gene': 'GC02P175227', 'score': 0.44}]
chr2	GH02I175234	175233493	175233642	0.85	[{'connected_gene': 'CIR1', 'score': 11.33}, {'connected_gene': 'ATF2', 'score': 10.49}, {'connected_gene': 'HOXD3', 'score': 9.73}, {'connected_gene': 'GC02P175236', 'score': 0.77}, {'connected_gene': 'GC02P175227', 'score': 0.44}]
chr2	GH02I174394	174394440	174397097	2.04	[{'connected_gene': 'SCRN3', 'score': 561.57}, {'connected_gene': 'CIR1', 'score': 550.77}, {'connected_gene': 'GPR155', 'score': 8.43}]
chr2	GH02I174585	174585108	174602121	2.45	[{'connected_gene': 'WIPF1', 'score': 579.7}, {'connected_gene': 'CIR1', 'score': 8.52}, {'connected_gene': 'GPR155', 'score': 6.46}, {'connected_gene': 'ENSG00000237798', 'score': 0.37}, {'connected_gene': 'ENSG00000236449', 'score': 0.25}, {'connected_gene': 'GC02P174645', 'score': 0.23}]
chr2	GH02I174675	174675433	174676224	0.42	[{'connected_gene': 'WIPF1', 'score': 5.47}, {'connected_gene': 'CIR1', 'score': 2.31}, {'connected_gene': 'GPR155', 'score': 1.24}, {'connected_gene': 'GC02P174645', 'score': 0.29}, {'connected_gene': 'ENSG00000236449', 'score': 0.13}]
chr2	GH02I174605	174605839	174612353	1.44	[{'connected_gene': 'WIPF1', 'score': 24.7}, {'connected_gene': 'ENSG00000237798', 'score': 12.56}, {'connected_gene': 'CIR1', 'score': 2.65}, {'connected_gene': 'GC02P174645', 'score': 0.28}, {'connected_gene': 'ENSG00000236449', 'score': 0.21}]
chr2	GH02I174492	174492018	174495399	1.15	[{'connected_gene': 'WIPF1', 'score': 11.65}, {'connected_gene': 'GPR155', 'score': 8.01}, {'connected_gene': 'CIR1', 'score': 1.68}, {'connected_gene': 'GC02M174489', 'score': 0.77}, {'connected_gene': 'LOC442058', 'score': 0.44}]
chr2	GH02I174383	174383781	174384059	0.65	[{'connected_gene': 'SP3', 'score': 2.35}, {'connected_gene': 'CIR1', 'score': 0.39}, {'connected_gene': 'GC02P174342', 'score': 0.26}]
chr2	GH02I173988	173988629	173992778	1.26	[{'connected_gene': 'SP3', 'score': 15.82}, {'connected_gene': 'ENSG00000273258', 'score': 9.25}, {'connected_gene': 'CIR1', 'score': 4.38}, {'connected_gene': 'ENSG00000271151', 'score': 0.34}]
chr2	GH02I175180	175180126	175182367	2.11	[{'connected_gene': 'ATP5MC3', 'score': 578.85}, {'connected_gene': 'GC02P175182', 'score': 550.77}, {'connected_gene': 'HOXD9', 'score': 10.18}, {'connected_gene': 'CIR1', 'score': 10.0}, {'connected_gene': 'HOXD4', 'score': 9.8}, {'connected_gene': 'GC02M175181', 'score': 0.77}]
chr2	GH02I174246	174246804	174249441	2.05	[{'connected_gene': 'OLA1', 'score': 555.28}, {'connected_gene': 'SP3', 'score': 27.6}, {'connected_gene': 'ENSG00000271151', 'score': 12.11}, {'connected_gene': 'CIR1', 'score': 10.42}, {'connected_gene': 'SP9', 'score': 4.7}, {'connected_gene': 'RN7SL65P', 'score': 0.44}]
chr2	GH02I174775	174775492	174780944	1.47	[{'connected_gene': 'CHN1', 'score': 16.24}, {'connected_gene': 'ATP5MC3', 'score': 4.31}, {'connected_gene': 'CIR1', 'score': 1.1}, {'connected_gene': 'LOC105373750', 'score': 0.77}, {'connected_gene': 'CHRNA1', 'score': 0.44}, {'connected_gene': 'H3F3AP4', 'score': 0.22}, {'connected_gene': 'GC02P174645', 'score': 0.12}]
chr2	GH02I174365	174365515	174365824	0.27	[{'connected_gene': 'SP9', 'score': 11.39}, {'connected_gene': 'CIR1', 'score': 1.92}, {'connected_gene': 'WIPF1', 'score': 1.71}, {'connected_gene': 'SP3', 'score': 1.7}, {'connected_gene': 'GC02P174342', 'score': 0.34}]
chr2	GH02I174351	174351514	174351945	0.4	[{'connected_gene': 'GC02P174342', 'score': 0.44}, {'connected_gene': 'CIR1', 'score': 0.26}]
chr2	GH02I174345	174345133	174345282	0.49	[{'connected_gene': 'GC02P174342', 'score': 0.77}, {'connected_gene': 'SP9', 'score': 0.39}, {'connected_gene': 'CIR1', 'score': 0.23}]