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
ENST00000252660	[[160327973, 160329108]]	[[160327987, 160328965]]
NM_002377	[[160327973, 160329108]]	[[160327987, 160328965]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I160088	160088145	160091829	0.56	[{'connected_gene': 'SLC22A1', 'score': 21.6}, {'connected_gene': 'LOC729603', 'score': 13.73}, {'connected_gene': 'MAS1', 'score': 10.72}, {'connected_gene': 'ENSG00000236823', 'score': 10.71}, {'connected_gene': 'GC06P160076', 'score': 0.39}, {'connected_gene': 'PIR43380', 'score': 0.39}, {'connected_gene': 'GC06P160073', 'score': 0.37}, {'connected_gene': 'IGF2R', 'score': 0.13}]
chr6	GH06I159961	159961581	159961838	0.71	[{'connected_gene': 'MAS1', 'score': 10.17}, {'connected_gene': 'ENSG00000236823', 'score': 10.16}, {'connected_gene': 'WTAP', 'score': 8.79}, {'connected_gene': 'SOD2', 'score': 7.85}, {'connected_gene': 'IGF2R', 'score': 2.64}, {'connected_gene': 'LOC105378087', 'score': 0.26}]
chr6	GH06I159958	159958946	159960852	1.39	[{'connected_gene': 'MAS1', 'score': 10.61}, {'connected_gene': 'ENSG00000236823', 'score': 10.59}, {'connected_gene': 'LOC729603', 'score': 5.86}, {'connected_gene': 'SOD2', 'score': 5.49}, {'connected_gene': 'WTAP', 'score': 4.94}, {'connected_gene': 'IGF2R', 'score': 1.75}, {'connected_gene': 'LOC105378087', 'score': 0.26}]
chr6	GH06I160022	160022480	160023141	0.38	[{'connected_gene': 'MAS1', 'score': 10.64}, {'connected_gene': 'ENSG00000236823', 'score': 10.64}, {'connected_gene': 'LOC729603', 'score': 6.1}, {'connected_gene': 'AIRN', 'score': 0.37}, {'connected_gene': 'GC06P160073', 'score': 0.23}, {'connected_gene': 'IGF2R', 'score': 0.23}]
chr6	GH06I159950	159950680	159950690	0.22	[{'connected_gene': 'MAS1', 'score': 3.57}, {'connected_gene': 'SOD2', 'score': 2.52}, {'connected_gene': 'WTAP', 'score': 1.82}, {'connected_gene': 'IGF2R', 'score': 0.37}, {'connected_gene': 'LOC105378087', 'score': 0.29}]
chr6	GH06I160003	160003566	160005298	0.38	[{'connected_gene': 'MAS1', 'score': 11.0}, {'connected_gene': 'ENSG00000236823', 'score': 10.99}, {'connected_gene': 'IGF2R', 'score': 8.72}, {'connected_gene': 'SLC22A1', 'score': 6.61}, {'connected_gene': 'AIRN', 'score': 0.77}]
chr6	GH06I159987	159987401	159988000	0.6	[{'connected_gene': 'MAS1', 'score': 9.97}, {'connected_gene': 'ENSG00000236823', 'score': 9.96}, {'connected_gene': 'IGF2R', 'score': 0.37}, {'connected_gene': 'AIRN', 'score': 0.37}]
chr6	GH06I159931	159931110	159932177	0.78	[{'connected_gene': 'MAS1', 'score': 12.3}, {'connected_gene': 'ENSG00000236823', 'score': 12.26}, {'connected_gene': 'LOC105378087', 'score': 0.39}, {'connected_gene': 'IGF2R', 'score': 0.28}, {'connected_gene': 'GC06P159843', 'score': 0.17}]
chr6	GH06I159929	159929464	159930626	0.82	[{'connected_gene': 'MAS1', 'score': 12.3}, {'connected_gene': 'ENSG00000236823', 'score': 12.26}, {'connected_gene': 'LOC105378087', 'score': 0.39}, {'connected_gene': 'IGF2R', 'score': 0.28}, {'connected_gene': 'GC06P159843', 'score': 0.17}]
chr6	GH06I159630	159630895	159631267	0.22	[{'connected_gene': 'MAS1', 'score': 4.59}, {'connected_gene': 'GC06M159668', 'score': 0.28}, {'connected_gene': 'PIR54448', 'score': 0.28}, {'connected_gene': 'LOC105378085', 'score': 0.28}]
chr6	GH06I159991	159991012	159992044	0.2	[{'connected_gene': 'MAS1', 'score': 9.97}, {'connected_gene': 'ENSG00000236823', 'score': 9.95}, {'connected_gene': 'AIRN', 'score': 0.37}, {'connected_gene': 'IGF2R', 'score': 0.34}]
chr6	GH06I159972	159972191	159975599	1.65	[{'connected_gene': 'IGF2R', 'score': 40.61}, {'connected_gene': 'WTAP', 'score': 18.75}, {'connected_gene': 'SOD2', 'score': 16.07}, {'connected_gene': 'SLC22A1', 'score': 5.68}, {'connected_gene': 'LOC729603', 'score': 5.0}, {'connected_gene': 'MAS1', 'score': 2.64}, {'connected_gene': 'AIRN', 'score': 0.29}]
chr6	GH06I159952	159952201	159954000	1.26	[{'connected_gene': 'IGF2R', 'score': 7.84}, {'connected_gene': 'WTAP', 'score': 7.49}, {'connected_gene': 'SOD2', 'score': 6.95}, {'connected_gene': 'MAS1', 'score': 1.32}, {'connected_gene': 'LOC105378087', 'score': 0.28}]
chr6	GH06I159975	159975965	159986200	1.76	[{'connected_gene': 'IGF2R', 'score': 32.83}, {'connected_gene': 'WTAP', 'score': 25.16}, {'connected_gene': 'MAS1', 'score': 12.26}, {'connected_gene': 'SOD2', 'score': 12.13}, {'connected_gene': 'ENSG00000236823', 'score': 10.3}, {'connected_gene': 'SLC22A1', 'score': 7.07}, {'connected_gene': 'AIRN', 'score': 0.31}]
chr6	GH06I159988	159988552	159990814	1.6	[{'connected_gene': 'IGF2R', 'score': 39.9}, {'connected_gene': 'MAS1', 'score': 13.9}, {'connected_gene': 'WTAP', 'score': 10.08}, {'connected_gene': 'ENSG00000236823', 'score': 9.95}, {'connected_gene': 'SOD2', 'score': 7.71}, {'connected_gene': 'SLC22A1', 'score': 5.82}, {'connected_gene': 'AIRN', 'score': 0.37}]
chr6	GH06I159966	159966001	159971454	2.45	[{'connected_gene': 'IGF2R', 'score': 587.14}, {'connected_gene': 'MAS1', 'score': 10.73}, {'connected_gene': 'ENSG00000236823', 'score': 10.72}, {'connected_gene': 'SLC22A1', 'score': 5.2}, {'connected_gene': 'LOC729603', 'score': 4.89}, {'connected_gene': 'LOC105378087', 'score': 0.23}]
chr6	GH06I159888	159888676	159888770	0.41	[{'connected_gene': 'PNLDC1', 'score': 10.14}, {'connected_gene': 'MAS1', 'score': 2.48}, {'connected_gene': 'ENSG00000236823', 'score': 0.39}, {'connected_gene': 'GC06P159843', 'score': 0.25}]
chr6	GH06I159720	159720540	159720877	0.84	[{'connected_gene': 'RNU4ATAC18P', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 25.73}, {'connected_gene': 'SOD2', 'score': 14.18}, {'connected_gene': 'WTAP', 'score': 12.41}, {'connected_gene': 'IGF2R', 'score': 2.25}, {'connected_gene': 'MAS1', 'score': 1.73}, {'connected_gene': 'SOD2-OT1', 'score': 0.26}]
chr6	GH06I160006	160006001	160006434	0.75	[{'connected_gene': 'AIRN', 'score': 550.77}, {'connected_gene': 'MAP3K4', 'score': 18.46}, {'connected_gene': 'MAS1', 'score': 10.36}, {'connected_gene': 'ENSG00000236823', 'score': 10.35}, {'connected_gene': 'WTAP', 'score': 10.09}, {'connected_gene': 'SLC22A1', 'score': 6.03}, {'connected_gene': 'IGF2R', 'score': 0.28}]
chr6	GH06I159899	159899310	159901563	0.63	[{'connected_gene': 'ENSG00000236823', 'score': 550.77}, {'connected_gene': 'MAS1', 'score': 0.44}, {'connected_gene': 'GC06P159843', 'score': 0.22}]