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

Promoter

Chrom	Start	End	Description
chr19	18548930	18548958	CAGE_peak_1_at_ISYNA1_5end
chr19	18548962	18548977	CAGE_peak_2_at_ISYNA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018436	18436230	18442774	2.47	[{'connected_gene': 'ISYNA1', 'score': 550.77}, {'connected_gene': 'ENSG00000268199', 'score': 550.77}, {'connected_gene': 'ENSG00000268030', 'score': 28.59}, {'connected_gene': 'NR2C2AP', 'score': 25.8}, {'connected_gene': 'IQCN', 'score': 23.28}, {'connected_gene': 'ENSG00000268938', 'score': 22.29}, {'connected_gene': 'UPF1', 'score': 21.9}, {'connected_gene': 'MEF2B', 'score': 19.3}, {'connected_gene': 'SSBP4', 'score': 18.93}, {'connected_gene': 'KXD1', 'score': 14.89}, {'connected_gene': 'GATAD2A', 'score': 11.49}, {'connected_gene': 'ENSG00000269191', 'score': 11.44}, {'connected_gene': 'COLGALT1', 'score': 11.29}, {'connected_gene': 'DDX49', 'score': 10.7}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'ELL', 'score': 0.18}]
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	GH19I018431	18431969	18434881	1.71	[{'connected_gene': 'PIR44614', 'score': 550.77}, {'connected_gene': 'GC19M018436', 'score': 550.77}, {'connected_gene': 'NR2C2AP', 'score': 33.92}, {'connected_gene': 'ENSG00000268030', 'score': 26.8}, {'connected_gene': 'UPF1', 'score': 21.87}, {'connected_gene': 'SSBP4', 'score': 19.4}, {'connected_gene': 'COLGALT1', 'score': 15.92}, {'connected_gene': 'ENSG00000268938', 'score': 13.8}, {'connected_gene': 'ENSG00000269191', 'score': 13.35}, {'connected_gene': 'MAU2', 'score': 13.19}, {'connected_gene': 'IQCN', 'score': 12.65}, {'connected_gene': 'ELL', 'score': 11.5}, {'connected_gene': 'RPL18A', 'score': 11.1}, {'connected_gene': 'UBA52', 'score': 10.69}, {'connected_gene': 'KXD1', 'score': 10.63}, {'connected_gene': 'MEF2B', 'score': 10.32}, {'connected_gene': 'ISYNA1', 'score': 0.77}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000545187	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18548669, 18548921]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547652]]
ENST00000582811	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18548669, 18548921]]	[[18547666, 18547687], [18548669, 18548789]]
ENST00000338128	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548408, 18548570], [18548669, 18548798], [18548902, 18549111]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548408, 18548570], [18548669, 18548789]]
ENST00000457269	[[18545618, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548669, 18548798], [18548902, 18548977]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548669, 18548789]]
ENST00000582287	[[18545624, 18545927], [18546075, 18546293], [18546372, 18546547]]	None
ENST00000581672	[[18545630, 18545927], [18546057, 18546293], [18546372, 18546486], [18546566, 18546712]]	[[18545722, 18545927], [18546057, 18546293], [18546372, 18546486], [18546566, 18546712]]
ENST00000578963	[[18545630, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18548119]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547813]]
ENST00000582770	[[18545630, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547782, 18547915], [18548408, 18548570], [18548669, 18548798], [18548902, 18548972]]	[[18547248, 18547289], [18547782, 18547915], [18548408, 18548570], [18548669, 18548789]]
ENST00000317018	[[18545631, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547782, 18547915], [18548408, 18548570], [18548669, 18548798], [18548902, 18548966]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547782, 18547785]]
ENST00000577916	[[18545631, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547915], [18548408, 18548570], [18548669, 18548798], [18548902, 18548974]]	None
ENST00000577820	[[18545670, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18548669, 18548798], [18548902, 18548925]]	[[18547666, 18547687], [18548669, 18548789]]
ENST00000583816	[[18546203, 18546293], [18546372, 18546474], [18546566, 18546731], [18546841, 18547057], [18547139, 18547426]]	None
ENST00000583309	[[18546225, 18546486], [18546566, 18546676]]	None
ENST00000578352	[[18546957, 18547057], [18547139, 18547289], [18548408, 18548570], [18548669, 18548798], [18548902, 18548953]]	[[18546957, 18547057], [18547139, 18547289], [18548408, 18548570], [18548669, 18548789]]
ENST00000581800	[[18547653, 18547687], [18547782, 18547915], [18548408, 18548798], [18548902, 18548972]]	[[18547653, 18547687], [18547782, 18547915], [18548408, 18548789]]
ENST00000583534	[[18547656, 18547687], [18547782, 18547915], [18548408, 18548570], [18548669, 18548972]]	[[18547656, 18547687], [18547782, 18547915], [18548408, 18548570], [18548669, 18548789]]
NM_001253389	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18548119]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547813]]
NR_045574	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18548669, 18548972]]	None
NM_016368	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548408, 18548570], [18548669, 18548798], [18548902, 18549111]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548408, 18548570], [18548669, 18548789]]
NR_045573	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547782, 18547915], [18548408, 18548570], [18548669, 18548798], [18548902, 18549111]]	None
NM_001170938	[[18545197, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548669, 18548798], [18548902, 18549111]]	[[18545722, 18545927], [18546075, 18546293], [18546372, 18546486], [18546566, 18546731], [18546841, 18547057], [18547139, 18547289], [18547493, 18547687], [18547782, 18547915], [18548669, 18548789]]