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
ENST00000415210	[[224363457, 224363649], [224377278, 224378021], [224380033, 224380055]]	[[224363630, 224363649], [224377278, 224378021], [224380033, 224380055]]
ENST00000323699	[[224370872, 224371120], [224377278, 224378021], [224380033, 224381143]]	[[224371038, 224371120], [224377278, 224378021], [224380033, 224380180]]
ENST00000391877	[[224370967, 224371120], [224377278, 224378021], [224380033, 224380220], [224380597, 224380859]]	[[224371038, 224371120], [224377278, 224378021], [224380033, 224380180]]
ENST00000465848	[[224371376, 224371533], [224377278, 224377754]]	None
ENST00000498813	[[224377837, 224378021], [224378793, 224378858], [224380033, 224380142]]	None
NM_003676	[[224370909, 224371120], [224377278, 224378021], [224380033, 224381143]]	[[224371038, 224371120], [224377278, 224378021], [224380033, 224380180]]
NM_001321541	[[224370909, 224371120], [224377278, 224378021], [224378793, 224378858], [224380033, 224381143]]	[[224371038, 224371120], [224377278, 224378021], [224378793, 224378835]]
NM_001321542	[[224371212, 224371533], [224377278, 224378021], [224380033, 224381143]]	[[224377304, 224378021], [224380033, 224380180]]

Promoter

Chrom	Start	End	Description
chr1	224370589	224370611	CAGE_peak_3_at_DEGS1_5end
chr1	224370681	224370692	CAGE_peak_10_at_DEGS1_5end
chr1	224370900	224370951	CAGE_peak_1_at_DEGS1_5end
chr1	224371372	224371396	CAGE_peak_2_at_DEGS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I224181	224181467	224185508	2.27	[{'connected_gene': 'DEGS1', 'score': 550.44}, {'connected_gene': 'LOC101927143', 'score': 24.46}, {'connected_gene': 'WDR26', 'score': 13.97}, {'connected_gene': 'CICP5', 'score': 13.68}, {'connected_gene': 'ENSG00000201898', 'score': 0.77}, {'connected_gene': 'PIR33615', 'score': 0.44}, {'connected_gene': 'GC01P224191', 'score': 0.44}]
chr1	GH01I224389	224389542	224389833	0.4	[{'connected_gene': 'DEGS1', 'score': 4.89}, {'connected_gene': 'MIR4742', 'score': 0.44}, {'connected_gene': 'GC01M224388', 'score': 0.44}, {'connected_gene': 'GC01P224379', 'score': 0.39}, {'connected_gene': 'WDR26', 'score': 0.25}]
chr1	GH01I224186	224186279	224186428	0.91	[{'connected_gene': 'CICP5', 'score': 18.26}, {'connected_gene': 'NVL', 'score': 17.38}, {'connected_gene': 'LOC100287497', 'score': 10.08}, {'connected_gene': 'PIR33615', 'score': 0.77}, {'connected_gene': 'GC01P224191', 'score': 0.77}, {'connected_gene': 'ENSG00000201898', 'score': 0.44}, {'connected_gene': 'DEGS1', 'score': 0.39}]
chr1	GH01I224175	224175600	224176001	0.99	[{'connected_gene': 'LOC724084', 'score': 550.77}, {'connected_gene': 'GC01M224176', 'score': 550.77}, {'connected_gene': 'DEGS1', 'score': 550.77}, {'connected_gene': 'LOC101927143', 'score': 21.08}]
chr1	GH01I224263	224263888	224270135	0.91	[{'connected_gene': 'NVL', 'score': 30.98}, {'connected_gene': 'CICP5', 'score': 22.09}, {'connected_gene': 'CNIH4', 'score': 18.56}, {'connected_gene': 'LOC101927164', 'score': 11.29}, {'connected_gene': 'LOC101927143', 'score': 11.27}, {'connected_gene': 'DEGS1', 'score': 5.27}, {'connected_gene': 'MIR320B2', 'score': 0.44}, {'connected_gene': 'ENSG00000229742', 'score': 0.29}, {'connected_gene': 'GC01M224258', 'score': 0.23}]
chr1	GH01I224272	224272951	224279073	0.89	[{'connected_gene': 'NVL', 'score': 17.5}, {'connected_gene': 'LOC101927164', 'score': 10.84}, {'connected_gene': 'LOC101927143', 'score': 10.82}, {'connected_gene': 'CNIH4', 'score': 10.57}, {'connected_gene': 'DEGS1', 'score': 6.11}, {'connected_gene': 'MIR320B2', 'score': 0.37}, {'connected_gene': 'ENSG00000229742', 'score': 0.34}, {'connected_gene': 'GC01M224258', 'score': 0.26}]
chr1	GH01I224456	224456191	224460259	1.24	[{'connected_gene': 'CNIH4', 'score': 46.56}, {'connected_gene': 'NVL', 'score': 27.71}, {'connected_gene': 'CICP5', 'score': 18.97}, {'connected_gene': 'CNIH3', 'score': 12.91}, {'connected_gene': 'WDR26', 'score': 12.91}, {'connected_gene': 'LOC100287497', 'score': 11.5}, {'connected_gene': 'DEGS1', 'score': 4.87}, {'connected_gene': 'GC01M224438', 'score': 0.37}, {'connected_gene': 'GC01P224480', 'score': 0.34}]
chr1	GH01I224356	224356219	224358596	2.34	[{'connected_gene': 'CNIH4', 'score': 587.17}, {'connected_gene': 'NVL', 'score': 16.51}, {'connected_gene': 'CNIH3', 'score': 10.94}, {'connected_gene': 'WDR26', 'score': 10.94}, {'connected_gene': 'LOC101927164', 'score': 10.21}, {'connected_gene': 'LOC101927143', 'score': 10.2}, {'connected_gene': 'CAPN2', 'score': 9.22}, {'connected_gene': 'DEGS1', 'score': 4.41}, {'connected_gene': 'FBXO28', 'score': 1.25}, {'connected_gene': 'GC01P224379', 'score': 0.37}]
chr1	GH01I224217	224217801	224218800	0.57	[{'connected_gene': 'LOC101927164', 'score': 550.77}, {'connected_gene': 'DEGS1', 'score': 5.21}, {'connected_gene': 'LOC101927143', 'score': 0.44}]
chr1	GH01I224240	224240479	224240628	0.2	[{'connected_gene': 'LOC101927164', 'score': 11.91}, {'connected_gene': 'LOC101927143', 'score': 11.88}, {'connected_gene': 'NVL', 'score': 10.56}, {'connected_gene': 'DEGS1', 'score': 4.99}, {'connected_gene': 'MIR320B2', 'score': 0.37}]
chr1	GH01I224244	224244360	224246625	0.88	[{'connected_gene': 'LOC101927164', 'score': 12.12}, {'connected_gene': 'LOC101927143', 'score': 12.1}, {'connected_gene': 'NVL', 'score': 10.56}, {'connected_gene': 'DEGS1', 'score': 5.62}, {'connected_gene': 'MIR320B2', 'score': 0.39}]
chr1	GH01I224218	224218812	224220347	0.69	[{'connected_gene': 'LOC101927164', 'score': 550.77}, {'connected_gene': 'LOC101927143', 'score': 21.28}, {'connected_gene': 'MIR320B2', 'score': 12.07}, {'connected_gene': 'NVL', 'score': 10.56}, {'connected_gene': 'CNIH4', 'score': 10.0}, {'connected_gene': 'CNIH3', 'score': 9.66}, {'connected_gene': 'WDR26', 'score': 9.66}, {'connected_gene': 'DEGS1', 'score': 5.29}]
chr1	GH01I224052	224052419	224054213	0.71	[{'connected_gene': 'LOC101927143', 'score': 5.56}, {'connected_gene': 'DEGS1', 'score': 5.25}, {'connected_gene': 'TP53BP2', 'score': 4.28}, {'connected_gene': 'LOC105373061', 'score': 0.44}, {'connected_gene': 'ENSG00000229930', 'score': 0.37}]
chr1	GH01I224195	224195763	224197654	1	[{'connected_gene': 'LOC101927143', 'score': 26.16}, {'connected_gene': 'DEGS1', 'score': 11.45}, {'connected_gene': 'NVL', 'score': 10.8}, {'connected_gene': 'CNIH4', 'score': 10.14}, {'connected_gene': 'PIR34911', 'score': 0.44}]
chr1	GH01I224064	224064828	224066076	0.65	[{'connected_gene': 'LOC101927143', 'score': 19.3}, {'connected_gene': 'DEGS1', 'score': 6.88}, {'connected_gene': 'LOC105373061', 'score': 0.44}, {'connected_gene': 'GC01M224096', 'score': 0.28}]
chr1	GH01I224050	224050801	224051200	0.89	[{'connected_gene': 'LOC101927143', 'score': 5.53}, {'connected_gene': 'DEGS1', 'score': 5.1}, {'connected_gene': 'LOC105373061', 'score': 0.44}, {'connected_gene': 'ENSG00000229930', 'score': 0.37}]
chr1	GH01I224212	224212225	224214706	1.2	[{'connected_gene': 'LOC101927143', 'score': 596.88}, {'connected_gene': 'DEGS1', 'score': 7.39}, {'connected_gene': 'LOC101927164', 'score': 0.44}]
chr1	GH01I224198	224198143	224199081	0.2	[{'connected_gene': 'LOC101927143', 'score': 25.54}, {'connected_gene': 'DEGS1', 'score': 11.76}, {'connected_gene': 'PIR34911', 'score': 0.44}]
chr1	GH01I224201	224201009	224202467	0.54	[{'connected_gene': 'LOC101927143', 'score': 26.15}, {'connected_gene': 'DEGS1', 'score': 8.43}, {'connected_gene': 'PIR34911', 'score': 0.39}]
chr1	GH01I224210	224210840	224212000	0.96	[{'connected_gene': 'LOC101927143', 'score': 599.37}, {'connected_gene': 'NVL', 'score': 21.4}, {'connected_gene': 'CICP5', 'score': 21.33}, {'connected_gene': 'DEGS1', 'score': 4.6}, {'connected_gene': 'PIR34911', 'score': 0.34}]
chr1	GH01I224251	224251103	224253383	0.74	[{'connected_gene': 'LOC101927143', 'score': 25.71}, {'connected_gene': 'NVL', 'score': 15.11}, {'connected_gene': 'LOC101927164', 'score': 11.48}, {'connected_gene': 'CNIH4', 'score': 8.94}, {'connected_gene': 'CNIH3', 'score': 4.97}, {'connected_gene': 'DEGS1', 'score': 4.4}, {'connected_gene': 'MIR320B2', 'score': 0.77}]
chr1	GH01I224202	224202884	224206739	1.39	[{'connected_gene': 'LOC101927143', 'score': 36.51}, {'connected_gene': 'FBXO28', 'score': 11.84}, {'connected_gene': 'LOC100287497', 'score': 10.52}, {'connected_gene': 'CICP5', 'score': 10.27}, {'connected_gene': 'CNIH4', 'score': 9.96}, {'connected_gene': 'CAPN2', 'score': 9.71}, {'connected_gene': 'DEGS1', 'score': 6.97}, {'connected_gene': 'PIR34911', 'score': 0.39}]
chr1	GH01I224168	224168402	224171316	1.31	[{'connected_gene': 'LOC101927143', 'score': 38.7}, {'connected_gene': 'LOC101927164', 'score': 12.0}, {'connected_gene': 'NVL', 'score': 10.8}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'TP53BP2', 'score': 8.67}, {'connected_gene': 'DEGS1', 'score': 6.07}, {'connected_gene': 'FBXO28', 'score': 1.43}, {'connected_gene': 'WDR26', 'score': 1.38}, {'connected_gene': 'GC01M224176', 'score': 0.44}]
chr1	GH01I224163	224163524	224165519	0.79	[{'connected_gene': 'LOC101927143', 'score': 47.01}, {'connected_gene': 'LOC101927164', 'score': 11.97}, {'connected_gene': 'MIR320B2', 'score': 11.33}, {'connected_gene': 'NVL', 'score': 11.01}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'DEGS1', 'score': 5.81}, {'connected_gene': 'GC01M224176', 'score': 0.39}, {'connected_gene': 'FBXO28', 'score': 0.23}]
chr1	GH01I224237	224236139	224236348	0.49	[{'connected_gene': 'LOC101927143', 'score': 12.46}, {'connected_gene': 'MIR320B2', 'score': 11.71}, {'connected_gene': 'DEGS1', 'score': 5.7}, {'connected_gene': 'LOC101927164', 'score': 0.37}, {'connected_gene': 'NVL', 'score': 0.16}]
chr1	GH01I224223	224223319	224224653	0.89	[{'connected_gene': 'LOC101927143', 'score': 27.66}, {'connected_gene': 'MIR320B2', 'score': 12.08}, {'connected_gene': 'NVL', 'score': 10.57}, {'connected_gene': 'CNIH4', 'score': 10.0}, {'connected_gene': 'CNIH3', 'score': 9.66}, {'connected_gene': 'WDR26', 'score': 9.66}, {'connected_gene': 'DEGS1', 'score': 5.38}, {'connected_gene': 'LOC101927164', 'score': 0.77}]