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
ENST00000588687	[[42750436, 42750893], [42761239, 42761327], [42766917, 42767093]]	[[42750825, 42750893], [42761239, 42761327], [42766917, 42767093]]
ENST00000457422	[[42754807, 42756411], [42759370, 42759506], [42761239, 42761327], [42766917, 42767147]]	[[42756374, 42756411], [42759370, 42759506], [42761239, 42761327], [42766917, 42767121]]
ENST00000315286	[[42754825, 42756411], [42757952, 42758011], [42759370, 42759506], [42761239, 42761327], [42766917, 42767130]]	[[42756223, 42756411], [42757952, 42758011], [42759370, 42759506], [42761239, 42761327], [42766917, 42767121]]
ENST00000588210	[[42754850, 42756411], [42757952, 42758020], [42759370, 42759506], [42761239, 42761327], [42766917, 42767131]]	[[42756223, 42756411], [42757952, 42758020], [42759370, 42759506], [42761239, 42761327], [42766917, 42767121]]
ENST00000592333	[[42759098, 42759506], [42761239, 42761327], [42766917, 42767113]]	None
NM_144609	[[42754804, 42756411], [42757952, 42758011], [42759370, 42759506], [42761239, 42761327], [42766917, 42767165]]	[[42756223, 42756411], [42757952, 42758011], [42759370, 42759506], [42761239, 42761327], [42766917, 42767121]]
NM_001099225	[[42754804, 42756411], [42759370, 42759506], [42761239, 42761327], [42766917, 42767165]]	[[42756374, 42756411], [42759370, 42759506], [42761239, 42761327], [42766917, 42767121]]

Promoter

Chrom	Start	End	Description
chr17	42767092	42767103	CAGE_peak_3_at_CCDC43_5end
chr17	42767115	42767166	CAGE_peak_1_at_CCDC43_5end
chr17	42767234	42767244	CAGE_peak_4_at_CCDC43_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I044818	44818698	44822091	1.36	[{'connected_gene': 'UBTF', 'score': 107.23}, {'connected_gene': 'ASB16-AS1', 'score': 91.05}, {'connected_gene': 'TMUB2', 'score': 44.64}, {'connected_gene': 'GPATCH8', 'score': 28.76}, {'connected_gene': 'GJC1', 'score': 28.39}, {'connected_gene': 'MPP2', 'score': 22.42}, {'connected_gene': 'ENSG00000266918', 'score': 19.2}, {'connected_gene': 'LINC02210', 'score': 18.56}, {'connected_gene': 'ENSG00000260793', 'score': 14.42}, {'connected_gene': 'EFTUD2', 'score': 14.08}, {'connected_gene': 'HIGD1B', 'score': 12.71}, {'connected_gene': 'ENSG00000224505', 'score': 12.42}, {'connected_gene': 'GFAP', 'score': 10.66}, {'connected_gene': 'DCAKD', 'score': 10.26}, {'connected_gene': 'C1QL1', 'score': 10.19}, {'connected_gene': 'MEIOC', 'score': 9.79}, {'connected_gene': 'CCDC43', 'score': 9.72}, {'connected_gene': 'ENSG00000267505', 'score': 9.29}, {'connected_gene': 'FAM187A', 'score': 7.7}, {'connected_gene': 'GC17M044778', 'score': 0.44}, {'connected_gene': 'PIR52410', 'score': 0.37}]
chr17	GH17I044511	44511201	44512528	1.37	[{'connected_gene': 'SLC25A39', 'score': 5.64}, {'connected_gene': 'C17orf53', 'score': 1.57}, {'connected_gene': 'GJC1', 'score': 1.45}, {'connected_gene': 'MEIOC', 'score': 1.42}, {'connected_gene': 'CCDC43', 'score': 1.38}, {'connected_gene': 'DBF4B', 'score': 1.38}, {'connected_gene': 'GPATCH8', 'score': 0.44}, {'connected_gene': 'PIR44449', 'score': 0.37}]
chr17	GH17I044533	44533133	44534830	1.37	[{'connected_gene': 'GPATCH8', 'score': 12.04}, {'connected_gene': 'MEIOC', 'score': 11.45}, {'connected_gene': 'CCDC43', 'score': 10.47}, {'connected_gene': 'LOC105371791', 'score': 0.77}, {'connected_gene': 'PIR44449', 'score': 0.44}]
chr17	GH17I044687	44687595	44691282	2.1	[{'connected_gene': 'CCDC43', 'score': 550.77}, {'connected_gene': 'ENSG00000279879', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 36.42}, {'connected_gene': 'TMUB2', 'score': 25.96}, {'connected_gene': 'UBTF', 'score': 25.4}, {'connected_gene': 'ASB16-AS1', 'score': 22.23}, {'connected_gene': 'GPATCH8', 'score': 20.94}, {'connected_gene': 'ENSG00000224505', 'score': 12.41}, {'connected_gene': 'ENSG00000260793', 'score': 11.48}, {'connected_gene': 'MEIOC', 'score': 11.26}, {'connected_gene': 'LINC02210', 'score': 10.76}, {'connected_gene': 'LOC105371792', 'score': 0.39}, {'connected_gene': 'GC17M044689', 'score': 0.34}]
chr17	GH17I044535	44535580	44537206	1	[{'connected_gene': 'LOC105371791', 'score': 550.77}, {'connected_gene': 'GPATCH8', 'score': 11.67}, {'connected_gene': 'MEIOC', 'score': 10.75}, {'connected_gene': 'CCDC43', 'score': 9.86}, {'connected_gene': 'FZD2', 'score': 0.34}]
chr17	GH17I044822	44822223	44823739	0.79	[{'connected_gene': 'FAM187A', 'score': 13.61}, {'connected_gene': 'HIGD1B', 'score': 12.71}, {'connected_gene': 'GFAP', 'score': 10.67}, {'connected_gene': 'C1QL1', 'score': 10.19}, {'connected_gene': 'MEIOC', 'score': 9.8}, {'connected_gene': 'CCDC43', 'score': 9.72}, {'connected_gene': 'GC17M044778', 'score': 0.44}, {'connected_gene': 'GJC1', 'score': 0.44}, {'connected_gene': 'PIR52410', 'score': 0.37}]
chr17	GH17I044720	44720613	44720880	0.3	[{'connected_gene': 'RPL6P26', 'score': 550.77}, {'connected_gene': 'RN7SL819P', 'score': 550.77}, {'connected_gene': 'GC17M044720', 'score': 550.77}, {'connected_gene': 'CCDC43', 'score': 12.09}, {'connected_gene': 'MEIOC', 'score': 11.03}, {'connected_gene': 'HIGD1B', 'score': 10.82}, {'connected_gene': 'DBF4B', 'score': 0.39}, {'connected_gene': 'PIR61260', 'score': 0.31}]
chr17	GH17I044749	44749409	44750357	0.38	[{'connected_gene': 'PIR61260', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 27.92}, {'connected_gene': 'HIGD1B', 'score': 11.35}, {'connected_gene': 'GJC1', 'score': 11.02}, {'connected_gene': 'GFAP', 'score': 10.57}, {'connected_gene': 'CCDC43', 'score': 10.34}, {'connected_gene': 'MEIOC', 'score': 10.21}, {'connected_gene': 'FZD2', 'score': 5.88}, {'connected_gene': 'ADAM11', 'score': 0.44}]
chr17	GH17I044677	44677273	44677422	0.31	[{'connected_gene': 'ENSG00000267160', 'score': 550.77}, {'connected_gene': 'LOC105371792', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 11.96}, {'connected_gene': 'MEIOC', 'score': 11.78}, {'connected_gene': 'GFAP', 'score': 9.78}, {'connected_gene': 'CCDC43', 'score': 0.39}]