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
ENST00000607062	[[190526110, 190526336], [190528626, 190528680], [190530101, 190530177], [190530766, 190530879], [190532489, 190532671], [190535166, 190535483]]	[[190530858, 190530879], [190532489, 190532671], [190535166, 190535452]]
ENST00000260952	[[190526145, 190526336], [190528626, 190528680], [190530101, 190530177], [190530766, 190532322], [190532489, 190532671], [190535166, 190535557]]	[[190530858, 190532322], [190532489, 190532671], [190535166, 190535452]]
ENST00000425590	[[190526164, 190526336], [190528626, 190528680], [190530147, 190530177], [190530766, 190531077]]	[[190530858, 190531077]]
ENST00000605941	[[190526177, 190526336], [190528626, 190528680], [190530082, 190530177], [190530766, 190531031]]	[[190526246, 190526336], [190528626, 190528680], [190530082, 190530112]]
ENST00000607535	[[190526184, 190526336], [190530147, 190530177], [190530766, 190531163]]	[[190526246, 190526336], [190530147, 190530177], [190530766, 190530784]]
ENST00000420250	[[190526188, 190526336], [190530101, 190530177], [190530766, 190532322], [190532489, 190532671], [190535166, 190535376]]	[[190530858, 190532322], [190532489, 190532671], [190535166, 190535376]]
ENST00000606910	[[190526244, 190526336], [190528626, 190528680], [190530101, 190530177], [190531921, 190532322], [190532489, 190532607]]	[[190526246, 190526336], [190528626, 190528680], [190530101, 190530177], [190531921, 190532322], [190532489, 190532607]]
ENST00000607690	[[190526246, 190526336], [190528626, 190528680], [190530147, 190530177], [190530766, 190531127]]	[[190526246, 190526336], [190528626, 190528680], [190530147, 190530177], [190530766, 190530784]]
ENST00000607829	[[190526246, 190526336], [190528626, 190528680], [190530101, 190530177], [190530766, 190531127]]	[[190526246, 190526336], [190528626, 190528680], [190530101, 190530177], [190530766, 190530837]]
NM_019048	[[190526124, 190526336], [190528626, 190528680], [190530101, 190530177], [190530766, 190532322], [190532489, 190532671], [190535166, 190535557]]	[[190530858, 190532322], [190532489, 190532671], [190535166, 190535452]]

Promoter

Chrom	Start	End	Description
chr2	190526148	190526248	CAGE_peak_1_at_ASNSD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I189641	189641115	189641264	0.57	[{'connected_gene': 'ORMDL1', 'score': 33.52}, {'connected_gene': 'ASNSD1', 'score': 11.06}, {'connected_gene': 'MSTN', 'score': 10.44}, {'connected_gene': 'ENSG00000276828', 'score': 0.39}]
chr2	GH02I189638	189638561	189640397	0.6	[{'connected_gene': 'ORMDL1', 'score': 21.44}, {'connected_gene': 'ASNSD1', 'score': 15.38}, {'connected_gene': 'ENSG00000276828', 'score': 0.39}]
chr2	GH02I189782	189782213	189785839	2.07	[{'connected_gene': 'ORMDL1', 'score': 606.31}, {'connected_gene': 'PMS1', 'score': 572.4}, {'connected_gene': 'ANKAR', 'score': 15.66}, {'connected_gene': 'HNRNPCP2', 'score': 13.53}, {'connected_gene': 'OSGEPL1-AS1', 'score': 12.33}, {'connected_gene': 'OSGEPL1', 'score': 11.29}, {'connected_gene': 'WDR75', 'score': 10.82}, {'connected_gene': 'NEMP2', 'score': 10.42}, {'connected_gene': 'ASNSD1', 'score': 5.76}, {'connected_gene': 'ENSG00000273240', 'score': 0.37}]
chr2	GH02I189657	189657386	189659563	0.98	[{'connected_gene': 'C2orf88', 'score': 2.05}, {'connected_gene': 'ASNSD1', 'score': 0.77}, {'connected_gene': 'ENSG00000276828', 'score': 0.29}]
chr2	GH02I189923	189923001	189923400	0.5	[{'connected_gene': 'HNRNPCP2', 'score': 550.77}, {'connected_gene': 'C2orf88', 'score': 10.42}, {'connected_gene': 'ASNSD1', 'score': 7.85}, {'connected_gene': 'RNF11P1', 'score': 0.44}]
chr2	GH02I189660	189660715	189663054	2.03	[{'connected_gene': 'ASNSD1', 'score': 558.82}, {'connected_gene': 'ORMDL1', 'score': 41.58}, {'connected_gene': 'ANKAR', 'score': 0.39}]
chr2	GH02I189865	189865083	189865380	0.24	[{'connected_gene': 'ASNSD1', 'score': 13.55}, {'connected_gene': 'PMS1', 'score': 1.87}, {'connected_gene': 'OSGEPL1', 'score': 1.71}, {'connected_gene': 'LOC105373796', 'score': 0.39}, {'connected_gene': 'LOC100421409', 'score': 0.26}]
chr2	GH02I189698	189698375	189698564	0.62	[{'connected_gene': 'ASNSD1', 'score': 12.48}, {'connected_gene': 'ANKAR', 'score': 12.46}, {'connected_gene': 'ORMDL1', 'score': 9.79}, {'connected_gene': 'LOC105373793', 'score': 0.34}, {'connected_gene': 'OSGEPL1-AS1', 'score': 0.21}]
chr2	GH02I189699	189698601	189698800	0.56	[{'connected_gene': 'ASNSD1', 'score': 12.48}, {'connected_gene': 'ANKAR', 'score': 12.46}, {'connected_gene': 'ORMDL1', 'score': 9.79}, {'connected_gene': 'LOC105373793', 'score': 0.34}, {'connected_gene': 'OSGEPL1-AS1', 'score': 0.21}]
chr2	GH02I189685	189685800	189686001	0.6	[{'connected_gene': 'ASNSD1', 'score': 11.85}, {'connected_gene': 'ANKAR', 'score': 0.39}, {'connected_gene': 'LOC105373793', 'score': 0.39}, {'connected_gene': 'OSGEPL1-AS1', 'score': 0.18}]
chr2	GH02I189530	189530616	189532007	0.2	[{'connected_gene': 'ASNSD1', 'score': 5.34}, {'connected_gene': 'ANKAR', 'score': 4.84}, {'connected_gene': 'LOC100420666', 'score': 0.26}, {'connected_gene': 'SLC40A1', 'score': 0.23}]
chr2	GH02I189544	189544553	189546673	0.66	[{'connected_gene': 'ASNSD1', 'score': 4.34}, {'connected_gene': 'COL5A2', 'score': 4.13}, {'connected_gene': 'SLC40A1', 'score': 0.28}, {'connected_gene': 'LOC100420666', 'score': 0.22}]
chr2	GH02I189870	189870801	189871200	0.2	[{'connected_gene': 'ASNSD1', 'score': 9.09}, {'connected_gene': 'LOC105373796', 'score': 0.44}, {'connected_gene': 'LOC100421409', 'score': 0.25}, {'connected_gene': 'PMS1', 'score': 0.17}]
chr2	GH02I189573	189573975	189585473	2.43	[{'connected_gene': 'SLC40A1', 'score': 559.58}, {'connected_gene': 'HNRNPCP2', 'score': 13.46}, {'connected_gene': 'ORMDL1', 'score': 12.89}, {'connected_gene': 'NEMP2', 'score': 10.42}, {'connected_gene': 'ASNSD1', 'score': 5.78}, {'connected_gene': 'LOC100420666', 'score': 0.16}]
chr2	GH02I189761	189761676	189764161	2.04	[{'connected_gene': 'OSGEPL1-AS1', 'score': 550.77}, {'connected_gene': 'OSGEPL1', 'score': 550.77}, {'connected_gene': 'ENSG00000273240', 'score': 550.77}, {'connected_gene': 'ORMDL1', 'score': 45.97}, {'connected_gene': 'MSTN', 'score': 16.53}, {'connected_gene': 'ASNSD1', 'score': 7.19}, {'connected_gene': 'ANKAR', 'score': 0.17}]