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
ENST00000445755	[[18043824, 18043857], [18047218, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054746]]	[[18047229, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054524]]
ENST00000602080	[[18043831, 18043857], [18047218, 18047801]]	None
ENST00000597436	[[18045904, 18046000], [18047218, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054800]]	[[18047229, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054524]]
ENST00000596123	[[18047059, 18047388], [18053464, 18053654], [18054069, 18054130]]	[[18047229, 18047388], [18053464, 18053654], [18054069, 18054130]]
NM_001136203	[[18043823, 18043857], [18047218, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054794]]	[[18047229, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054524]]
NM_138442	[[18045904, 18046000], [18047218, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054794]]	[[18047229, 18047388], [18053464, 18053654], [18054069, 18054184], [18054316, 18054524]]

Promoter

Chrom	Start	End	Description
chr19	18043810	18043835	CAGE_peak_1_at_CCDC124_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017871	17871896	17871955	0.89	[{'connected_gene': 'SLC5A5', 'score': 550.77}, {'connected_gene': 'ENSG00000279617', 'score': 550.77}, {'connected_gene': 'CCDC124', 'score': 0.21}]
chr19	GH19I017872	17872401	17872800	0.38	[{'connected_gene': 'SLC5A5', 'score': 550.77}, {'connected_gene': 'ENSG00000279617', 'score': 550.77}, {'connected_gene': 'CCDC124', 'score': 0.21}]
chr19	GH19I017873	17873601	17874800	0.98	[{'connected_gene': 'RPL18A', 'score': 11.71}, {'connected_gene': 'SLC5A5', 'score': 0.77}, {'connected_gene': 'ENSG00000279617', 'score': 0.77}, {'connected_gene': 'CCDC124', 'score': 0.22}]
chr19	GH19I017949	17949681	17953637	1.61	[{'connected_gene': 'KCNN1', 'score': 550.77}, {'connected_gene': 'CCDC124', 'score': 12.62}, {'connected_gene': 'RNA5SP468', 'score': 0.34}]
chr19	GH19I017947	17946392	17946581	0.81	[{'connected_gene': 'KCNN1', 'score': 0.77}, {'connected_gene': 'CCDC124', 'score': 0.39}]
chr19	GH19I017915	17915684	17916931	0.78	[{'connected_gene': 'SNORA68', 'score': 12.56}, {'connected_gene': 'RPL18A', 'score': 12.55}, {'connected_gene': 'CCDC124', 'score': 0.37}, {'connected_gene': 'ENSG00000279617', 'score': 0.26}]
chr19	GH19I018315	18315296	18324706	2.57	[{'connected_gene': 'LSM4', 'score': 566.92}, {'connected_gene': 'UPF1', 'score': 27.0}, {'connected_gene': 'ELL', 'score': 22.2}, {'connected_gene': 'IQCN', 'score': 21.62}, {'connected_gene': 'ENSG00000268030', 'score': 18.27}, {'connected_gene': 'ENSG00000268938', 'score': 14.74}, {'connected_gene': 'COLGALT1', 'score': 14.6}, {'connected_gene': 'ENSG00000269191', 'score': 12.22}, {'connected_gene': 'PGPEP1', 'score': 10.28}, {'connected_gene': 'NR2C2AP', 'score': 10.08}, {'connected_gene': 'SUGP2', 'score': 9.94}, {'connected_gene': 'SSBP4', 'score': 7.55}, {'connected_gene': 'LRRC25', 'score': 6.96}, {'connected_gene': 'IFI30', 'score': 5.08}, {'connected_gene': 'JUND', 'score': 4.65}, {'connected_gene': 'ARRDC2', 'score': 2.3}, {'connected_gene': 'JAK3', 'score': 1.74}, {'connected_gene': 'IL12RB1', 'score': 1.67}, {'connected_gene': 'CCDC124', 'score': 1.55}, {'connected_gene': 'LOC105372300', 'score': 0.77}]
chr19	GH19I018414	18414110	18423279	2.85	[{'connected_gene': 'SSBP4', 'score': 571.64}, {'connected_gene': 'NR2C2AP', 'score': 49.04}, {'connected_gene': 'ENSG00000268030', 'score': 42.71}, {'connected_gene': 'UPF1', 'score': 38.14}, {'connected_gene': 'COLGALT1', 'score': 31.13}, {'connected_gene': 'MAU2', 'score': 30.39}, {'connected_gene': 'ENSG00000268938', 'score': 26.71}, {'connected_gene': 'IQCN', 'score': 23.81}, {'connected_gene': 'ENSG00000269191', 'score': 22.31}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'LRRC25', 'score': 10.72}, {'connected_gene': 'ELL', 'score': 10.71}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'MEF2B', 'score': 10.28}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'IFI30', 'score': 8.54}, {'connected_gene': 'IL12RB1', 'score': 6.17}, {'connected_gene': 'PGPEP1', 'score': 4.69}, {'connected_gene': 'JUND', 'score': 3.58}, {'connected_gene': 'ARRDC2', 'score': 2.77}, {'connected_gene': 'ISYNA1', 'score': 2.33}, {'connected_gene': 'KLHL26', 'score': 2.26}, {'connected_gene': 'REX1BD', 'score': 2.08}, {'connected_gene': 'CRLF1', 'score': 1.82}, {'connected_gene': 'KXD1', 'score': 1.79}, {'connected_gene': 'KCNN1', 'score': 1.78}, {'connected_gene': 'LSM4', 'score': 1.58}, {'connected_gene': 'UBA52', 'score': 1.37}, {'connected_gene': 'CCDC124', 'score': 1.21}, {'connected_gene': 'PIR41821', 'score': 0.77}, {'connected_gene': 'PIR44614', 'score': 0.37}, {'connected_gene': 'GC19M018436', 'score': 0.37}]
chr19	GH19I017946	17946960	17949641	1.32	[{'connected_gene': 'CCDC124', 'score': 8.81}, {'connected_gene': 'KCNN1', 'score': 5.08}, {'connected_gene': 'UNC13A', 'score': 1.27}]
chr19	GH19I017942	17942170	17944751	1.06	[{'connected_gene': 'CCDC124', 'score': 11.95}, {'connected_gene': 'KCNN1', 'score': 0.44}]
chr19	GH19I017936	17936355	17936414	0.5	[{'connected_gene': 'CCDC124', 'score': 550.77}, {'connected_gene': 'KCNN1', 'score': 0.39}]
chr19	GH19I017935	17935044	17935103	0.61	[{'connected_gene': 'CCDC124', 'score': 550.77}, {'connected_gene': 'KCNN1', 'score': 0.37}]
chr19	GH19I017938	17938272	17938521	0.83	[{'connected_gene': 'CCDC124', 'score': 0.44}, {'connected_gene': 'KCNN1', 'score': 0.39}]
chr19	GH19I017931	17931515	17934395	2.1	[{'connected_gene': 'CCDC124', 'score': 558.52}, {'connected_gene': 'ENSG00000279617', 'score': 0.21}]
chr19	GH19I017909	17909020	17909961	0.31	[{'connected_gene': 'B3GNT3', 'score': 10.58}, {'connected_gene': 'JUND', 'score': 5.09}, {'connected_gene': 'CCDC124', 'score': 0.34}, {'connected_gene': 'ENSG00000279617', 'score': 0.28}]