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
ENST00000595565	[[7991605, 7992191], [7992541, 7992652], [7996022, 7996073], [7997511, 7997631]]	[[7992071, 7992191], [7992541, 7992652], [7996022, 7996073], [7997511, 7997631]]
ENST00000595831	[[7991620, 7992191], [7992541, 7992652], [7992961, 7993051], [7996022, 7996073], [7997511, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999126], [7999949, 8000030], [8002911, 8003082], [8005986, 8006082], [8008491, 8008520]]	[[7999123, 7999126], [7999949, 8000030], [8002911, 8003082], [8005986, 8006082], [8008491, 8008520]]
ENST00000270538	[[7991624, 7992191], [7992541, 7992652], [7992961, 7993051], [7996022, 7996073], [7997511, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999123], [7999949, 8000030], [8002911, 8003082], [8005986, 8006082], [8008491, 8008805]]	[[7992071, 7992191], [7992541, 7992652], [7992961, 7993051], [7996022, 7996073], [7997511, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999123], [7999949, 8000030], [8002911, 8003082], [8005986, 8006082], [8008491, 8008536]]
ENST00000598968	[[7991798, 7992191], [7992541, 7992652], [7992961, 7993051], [7996022, 7996073], [7996563, 7996715]]	None
ENST00000599650	[[7991933, 7992191], [7992541, 7992652], [7992961, 7993051], [7996022, 7996484]]	None
ENST00000598481	[[7992708, 7993051], [7996022, 7996266]]	None
ENST00000595876	[[7993007, 7993051], [7996022, 7996073], [7997511, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999123], [7999949, 8000138], [8002911, 8003082], [8005986, 8006082], [8008491, 8008552]]	[[8000030, 8000138], [8002911, 8003082], [8005986, 8006082], [8008491, 8008536]]
ENST00000599939	[[7991602, 7993829]]	None
ENST00000598675	[[7997160, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998837]]	None
ENST00000597926	[[7997583, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999123], [7999949, 8000030], [8002911, 8003082], [8008491, 8008536]]	[[7997583, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999123], [7999949, 8000030], [8002911, 8003082], [8008491, 8008536]]
ENST00000600748	[[7998648, 7998888], [7998973, 7999123], [7999949, 8000030], [8002911, 8003082], [8005986, 8006082], [8008491, 8008521]]	None
ENST00000600000	[[8002682, 8003082], [8005986, 8006082], [8008491, 8008551]]	None
NM_006351	[[7991602, 7992191], [7992541, 7992652], [7992961, 7993051], [7996022, 7996073], [7997511, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999123], [7999949, 8000030], [8002911, 8003082], [8005986, 8006082], [8008491, 8008708]]	[[7992071, 7992191], [7992541, 7992652], [7992961, 7993051], [7996022, 7996073], [7997511, 7997636], [7997724, 7997817], [7998369, 7998455], [7998748, 7998888], [7998973, 7999123], [7999949, 8000030], [8002911, 8003082], [8005986, 8006082], [8008491, 8008536]]

Promoter

Chrom	Start	End	Description
chr19	7993786	7993809	CAGE_peak_3_at_TIMM44_5end
chr19	8008533	8008563	CAGE_peak_1_at_TIMM44_5end
chr19	8008607	8008620	CAGE_peak_2_at_TIMM44_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I007521	7521845	7523869	2.57	[{'connected_gene': 'MCOLN1', 'score': 553.45}, {'connected_gene': 'GC19M007510', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 80.55}, {'connected_gene': 'ELAVL1', 'score': 73.1}, {'connected_gene': 'XAB2', 'score': 51.63}, {'connected_gene': 'ZNF557', 'score': 34.69}, {'connected_gene': 'MAP2K7', 'score': 28.57}, {'connected_gene': 'ZNF414', 'score': 19.85}, {'connected_gene': 'TIMM44', 'score': 11.63}, {'connected_gene': 'SNAPC2', 'score': 11.12}, {'connected_gene': 'GPR108', 'score': 10.31}, {'connected_gene': 'CD209', 'score': 10.17}, {'connected_gene': 'EVI5L', 'score': 10.08}, {'connected_gene': 'PEX11G', 'score': 7.01}, {'connected_gene': 'LOC105372261', 'score': 0.77}]
chr19	GH19I008032	8032207	8037883	1.19	[{'connected_gene': 'HNRNPM', 'score': 28.68}, {'connected_gene': 'ZNF558', 'score': 24.69}, {'connected_gene': 'XAB2', 'score': 23.43}, {'connected_gene': 'ZNF557', 'score': 22.55}, {'connected_gene': 'ELAVL1', 'score': 21.03}, {'connected_gene': 'MAP2K7', 'score': 11.61}, {'connected_gene': 'TIMM44', 'score': 11.09}, {'connected_gene': 'ZNF414', 'score': 10.74}, {'connected_gene': 'ENSG00000269139', 'score': 9.09}, {'connected_gene': 'CCL25', 'score': 8.56}, {'connected_gene': 'LOC105372266', 'score': 6.42}, {'connected_gene': 'SNAPC2', 'score': 5.31}]
chr19	GH19I007952	7952801	7953400	0.54	[{'connected_gene': 'ELAVL1', 'score': 27.56}, {'connected_gene': 'ZNF414', 'score': 17.85}, {'connected_gene': 'ZNF558', 'score': 15.56}, {'connected_gene': 'ZNF557', 'score': 14.79}, {'connected_gene': 'TIMM44', 'score': 14.04}, {'connected_gene': 'XAB2', 'score': 13.81}, {'connected_gene': 'HNRNPM', 'score': 13.76}, {'connected_gene': 'ENSG00000269813', 'score': 0.44}]
chr19	GH19I008028	8028086	8030467	0.74	[{'connected_gene': 'ELAVL1', 'score': 12.36}, {'connected_gene': 'TIMM44', 'score': 11.44}, {'connected_gene': 'CCL25', 'score': 8.5}, {'connected_gene': 'LOC105372266', 'score': 0.34}]
chr19	GH19I007995	7995781	7996156	0.4	[{'connected_gene': 'TIMM44', 'score': 13.05}, {'connected_gene': 'FBN3', 'score': 1.53}, {'connected_gene': 'GC19P007992', 'score': 0.77}, {'connected_gene': 'ELAVL1', 'score': 0.44}]
chr19	GH19I007941	7941905	7944919	2.08	[{'connected_gene': 'TIMM44', 'score': 567.27}, {'connected_gene': 'ZNF557', 'score': 14.79}, {'connected_gene': 'ELAVL1', 'score': 14.56}, {'connected_gene': 'HNRNPM', 'score': 13.34}, {'connected_gene': 'XAB2', 'score': 13.04}, {'connected_gene': 'ZNF558', 'score': 11.77}, {'connected_gene': 'ZNF414', 'score': 10.91}, {'connected_gene': 'CTXN1', 'score': 0.37}]
chr19	GH19I008024	8024949	8026245	0.43	[{'connected_gene': 'TIMM44', 'score': 11.81}, {'connected_gene': 'CCL25', 'score': 8.47}, {'connected_gene': 'LOC105372266', 'score': 6.41}]
chr19	GH19I007987	7987952	7990920	0.69	[{'connected_gene': 'TIMM44', 'score': 13.07}, {'connected_gene': 'GC19P007992', 'score': 0.77}, {'connected_gene': 'PIR52412', 'score': 0.44}, {'connected_gene': 'ELAVL1', 'score': 0.37}]
chr19	GH19I007868	7868315	7872724	1.71	[{'connected_gene': 'ENSG00000268120', 'score': 550.77}, {'connected_gene': 'PRR36', 'score': 10.98}, {'connected_gene': 'HNRNPM', 'score': 10.28}, {'connected_gene': 'EVI5L', 'score': 9.73}, {'connected_gene': 'TIMM44', 'score': 4.95}]
chr19	GH19I007924	7924776	7931080	2.22	[{'connected_gene': 'ENSG00000269139', 'score': 563.6}, {'connected_gene': 'CTXN1', 'score': 550.77}, {'connected_gene': 'TIMM44', 'score': 17.88}, {'connected_gene': 'LOC105372266', 'score': 7.0}]
chr19	GH19I007977	7977281	7981321	0.66	[{'connected_gene': 'PIR52412', 'score': 550.77}, {'connected_gene': 'TIMM44', 'score': 15.47}, {'connected_gene': 'ZNF414', 'score': 10.02}, {'connected_gene': 'LOC105372266', 'score': 8.15}, {'connected_gene': 'CCL25', 'score': 7.79}, {'connected_gene': 'ENSG00000269139', 'score': 5.94}, {'connected_gene': 'ENSG00000269813', 'score': 0.34}, {'connected_gene': 'ELAVL1', 'score': 0.31}]
chr19	GH19I007982	7982117	7984046	0.72	[{'connected_gene': 'PIR52412', 'score': 550.77}, {'connected_gene': 'TIMM44', 'score': 13.09}, {'connected_gene': 'ENSG00000269139', 'score': 11.42}, {'connected_gene': 'GC19P007992', 'score': 0.44}, {'connected_gene': 'ELAVL1', 'score': 0.34}]