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
ENST00000449465	[[45928084, 45928241], [45928419, 45928493], [45928695, 45928833]]	[[45928119, 45928241], [45928419, 45928493], [45928695, 45928796]]
NM_001080446	[[45928084, 45928241], [45928419, 45928493], [45928695, 45928833]]	[[45928119, 45928241], [45928419, 45928493], [45928695, 45928796]]

Promoter

Chrom	Start	End	Description
chr11	45928796	45928807	CAGE_peak_2_at_C11orf94_5end
chr11	45928809	45928813	CAGE_peak_4_at_C11orf94_5end
chr11	45928816	45928827	CAGE_peak_1_at_C11orf94_5end
chr11	45928830	45928840	CAGE_peak_3_at_C11orf94_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I045861	45861618	45862451	0.38	[{'connected_gene': 'MAPK8IP1', 'score': 17.45}, {'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.4}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'SLC35C1', 'score': 7.57}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11	GH11I045854	45854992	45861211	1.14	[{'connected_gene': 'MAPK8IP1', 'score': 29.27}, {'connected_gene': 'ENSG00000255498', 'score': 11.57}, {'connected_gene': 'C11orf94', 'score': 11.57}, {'connected_gene': 'LARGE2', 'score': 11.54}, {'connected_gene': 'PEX16', 'score': 11.54}, {'connected_gene': 'DKFZp779M0652', 'score': 11.47}, {'connected_gene': 'SLC35C1', 'score': 7.83}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11	GH11I045944	45944528	45946769	0.43	[{'connected_gene': 'LARGE2', 'score': 12.55}, {'connected_gene': 'PEX16', 'score': 12.52}, {'connected_gene': 'ENSG00000255498', 'score': 12.49}, {'connected_gene': 'C11orf94', 'score': 12.49}, {'connected_gene': 'SLC35C1', 'score': 6.1}, {'connected_gene': 'PHF21A', 'score': 0.1}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11	GH11I045941	45941031	45943358	0.43	[{'connected_gene': 'LARGE2', 'score': 13.0}, {'connected_gene': 'PEX16', 'score': 13.0}, {'connected_gene': 'C11orf94', 'score': 12.95}, {'connected_gene': 'ENSG00000255498', 'score': 12.94}, {'connected_gene': 'PHF21A', 'score': 0.1}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11	GH11I045905	45905710	45908581	1.19	[{'connected_gene': 'ENSG00000255498', 'score': 550.77}, {'connected_gene': 'C11orf94', 'score': 550.77}, {'connected_gene': 'SLC35C1', 'score': 4.3}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]
chr11	GH11I045879	45879600	45882667	1.11	[{'connected_gene': 'ENSG00000255498', 'score': 12.99}, {'connected_gene': 'C11orf94', 'score': 12.99}, {'connected_gene': 'LARGE2', 'score': 12.95}, {'connected_gene': 'PEX16', 'score': 12.95}, {'connected_gene': 'MAPK8IP1', 'score': 10.52}, {'connected_gene': 'DKFZp779M0652', 'score': 6.39}, {'connected_gene': 'CRY2', 'score': 0.29}]
chr11	GH11I045865	45865616	45866813	0.2	[{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.39}, {'connected_gene': 'PEX16', 'score': 11.39}, {'connected_gene': 'DKFZp779M0652', 'score': 7.49}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.37}]
chr11	GH11I045862	45862904	45863978	0.43	[{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]