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
ENST00000440082	[[30536236, 30536851], [30538418, 30538554], [30544184, 30544445]]	[[30538539, 30538554], [30544184, 30544325]]
ENST00000275428	[[30536236, 30536851], [30538418, 30538554], [30540151, 30540297], [30544184, 30544460]]	[[30536707, 30536851], [30538418, 30538554], [30540151, 30540297], [30544184, 30544325]]
ENST00000005374	[[30536238, 30536851], [30540151, 30540297], [30544184, 30544418]]	[[30536793, 30536851], [30540151, 30540297], [30544184, 30544325]]
ENST00000409144	[[30536248, 30536851], [30544184, 30544417]]	[[30536707, 30536851], [30544184, 30544325]]
ENST00000426081	[[30536399, 30536851], [30537356, 30537512], [30538418, 30538554], [30540151, 30540296]]	[[30537434, 30537512], [30538418, 30538554], [30540151, 30540296]]
ENST00000447901	[[30536592, 30536851], [30537356, 30537512], [30538418, 30538554], [30544184, 30544417]]	[[30538539, 30538554], [30544184, 30544325]]
ENST00000409390	[[30536617, 30536851], [30537356, 30537512], [30540151, 30540297], [30544184, 30544415]]	[[30536793, 30536851], [30537356, 30537512], [30540151, 30540297], [30544184, 30544325]]
ENST00000598361	[[30536692, 30536851], [30538418, 30538554], [30540151, 30540297], [30590251, 30590397], [30590933, 30591095]]	[[30536707, 30536851], [30538418, 30538554], [30540151, 30540183]]
ENST00000409436	[[30537088, 30537512], [30538418, 30538554], [30540151, 30540297], [30544184, 30544432]]	[[30537434, 30537512], [30538418, 30538554], [30540151, 30540297], [30544184, 30544325]]
NM_024051	[[30536236, 30536851], [30538418, 30538554], [30540151, 30540297], [30544184, 30544457]]	[[30536707, 30536851], [30538418, 30538554], [30540151, 30540297], [30544184, 30544325]]
NM_001199815	[[30536236, 30536851], [30537356, 30537512], [30540151, 30540297], [30544184, 30544457]]	[[30536793, 30536851], [30537356, 30537512], [30540151, 30540297], [30544184, 30544325]]
NM_001199816	[[30536236, 30536851], [30540151, 30540297], [30544184, 30544457]]	[[30536793, 30536851], [30540151, 30540297], [30544184, 30544325]]
NR_037669	[[30536236, 30536851], [30538418, 30538554], [30544184, 30544457]]	None
NM_001199817	[[30536236, 30536851], [30544184, 30544457]]	[[30536707, 30536851], [30544184, 30544325]]

Promoter

Chrom	Start	End	Description
chr7	30544385	30544396	CAGE_peak_3_at_GGCT_5end
chr7	30544405	30544459	CAGE_peak_1_at_GGCT_5end
chr7	30544468	30544482	CAGE_peak_2_at_GGCT_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I030501	30501869	30505822	2.03	[{'connected_gene': 'GGCT', 'score': 556.21}, {'connected_gene': 'ENSG00000196295', 'score': 52.37}, {'connected_gene': 'ENSG00000226874', 'score': 37.68}, {'connected_gene': 'ENSG00000263683', 'score': 31.05}, {'connected_gene': 'DKFZP586I1420', 'score': 20.12}, {'connected_gene': 'NOD1', 'score': 0.31}, {'connected_gene': 'ENSG00000281039', 'score': 0.25}]
chr7	GH07I030493	30493285	30493434	0.56	[{'connected_gene': 'GGCT', 'score': 0.39}, {'connected_gene': 'NOD1', 'score': 0.39}]
chr7	GH07I030509	30509305	30509454	0.59	[{'connected_gene': 'NOD1', 'score': 11.71}, {'connected_gene': 'GARS', 'score': 10.69}, {'connected_gene': 'GGCT', 'score': 0.77}, {'connected_gene': 'ENSG00000244480', 'score': 0.37}, {'connected_gene': 'ENSG00000281039', 'score': 0.26}]
chr7	GH07I030520	30520069	30528011	1.06	[{'connected_gene': 'ENSG00000264520', 'score': 565.28}, {'connected_gene': 'ENSG00000244480', 'score': 555.45}, {'connected_gene': 'ENSG00000196295', 'score': 50.58}, {'connected_gene': 'NOD1', 'score': 11.15}, {'connected_gene': 'FKBP14', 'score': 10.9}, {'connected_gene': 'PLEKHA8', 'score': 10.34}, {'connected_gene': 'LOC100287825', 'score': 0.44}, {'connected_gene': 'GGCT', 'score': 0.37}, {'connected_gene': 'ENSG00000281039', 'score': 0.31}]