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
ENST00000307221	[[41255552, 41258130]]	[[41257068, 41257998]]
NM_145174	[[41255552, 41258130]]	[[41257068, 41257998]]

Promoter

Chrom	Start	End	Description
chr22	41258074	41258123	CAGE_peak_1_at_DNAJB7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I040950	40950009	40953124	2.33	[{'connected_gene': 'RBX1', 'score': 550.77}, {'connected_gene': 'EP300', 'score': 27.79}, {'connected_gene': 'XRCC6', 'score': 15.99}, {'connected_gene': 'EP300-AS1', 'score': 14.08}, {'connected_gene': 'ADSL', 'score': 13.05}, {'connected_gene': 'DNAJB7', 'score': 12.52}, {'connected_gene': 'XPNPEP3', 'score': 10.37}, {'connected_gene': 'ST13', 'score': 10.37}, {'connected_gene': 'GC22P040976', 'score': 0.31}]
chr22	GH22I040709	40709010	40715335	1.78	[{'connected_gene': 'L3MBTL2', 'score': 33.64}, {'connected_gene': 'EP300', 'score': 31.9}, {'connected_gene': 'PHF5A', 'score': 25.29}, {'connected_gene': 'XRCC6', 'score': 22.89}, {'connected_gene': 'SLC25A17', 'score': 22.0}, {'connected_gene': 'ZC3H7B', 'score': 21.7}, {'connected_gene': 'LOC100506544', 'score': 21.01}, {'connected_gene': 'SNU13', 'score': 19.37}, {'connected_gene': 'POLR3H', 'score': 18.91}, {'connected_gene': 'C22orf46', 'score': 10.2}, {'connected_gene': 'DNAJB7', 'score': 10.2}, {'connected_gene': 'TNRC6B', 'score': 10.13}, {'connected_gene': 'TEF', 'score': 9.99}, {'connected_gene': 'XPNPEP3', 'score': 8.33}, {'connected_gene': 'GC22M042190', 'score': 0.29}, {'connected_gene': 'LOC100313968', 'score': 0.18}]
chr22	GH22I040859	40859768	40860406	0.2	[{'connected_gene': 'XPNPEP3', 'score': 5.49}, {'connected_gene': 'DNAJB7', 'score': 0.77}]
chr22	GH22I040634	40634126	40638527	2.25	[{'connected_gene': 'MKL1', 'score': 565.22}, {'connected_gene': 'EP300', 'score': 57.65}, {'connected_gene': 'XRCC6', 'score': 55.84}, {'connected_gene': 'PHF5A', 'score': 35.83}, {'connected_gene': 'EP300-AS1', 'score': 35.36}, {'connected_gene': 'ENSG00000272834', 'score': 14.56}, {'connected_gene': 'RPL4P6', 'score': 13.28}, {'connected_gene': 'ENSG00000232754', 'score': 12.89}, {'connected_gene': 'DNAJB7', 'score': 12.43}, {'connected_gene': 'TNRC6B', 'score': 12.24}, {'connected_gene': 'ADSL', 'score': 11.62}, {'connected_gene': 'ENSG00000227413', 'score': 10.33}, {'connected_gene': 'L3MBTL2', 'score': 10.31}, {'connected_gene': 'LOC100313968', 'score': 10.3}, {'connected_gene': 'XPNPEP3', 'score': 6.34}, {'connected_gene': 'CSDC2', 'score': 5.08}]
chr22	GH22I041474	41474663	41477128	0.99	[{'connected_gene': 'EP300', 'score': 67.79}, {'connected_gene': 'PHF5A', 'score': 44.26}, {'connected_gene': 'ENSG00000232754', 'score': 34.64}, {'connected_gene': 'XRCC6', 'score': 28.74}, {'connected_gene': 'L3MBTL2', 'score': 22.69}, {'connected_gene': 'EP300-AS1', 'score': 22.16}, {'connected_gene': 'POLR3H', 'score': 22.04}, {'connected_gene': 'LOC100506544', 'score': 21.05}, {'connected_gene': 'ZC3H7B', 'score': 20.75}, {'connected_gene': 'SNU13', 'score': 19.42}, {'connected_gene': 'SLC25A17', 'score': 14.23}, {'connected_gene': 'TEF', 'score': 13.27}, {'connected_gene': 'NAGA', 'score': 11.61}, {'connected_gene': 'DNAJB7', 'score': 10.76}, {'connected_gene': 'XPNPEP3', 'score': 10.57}, {'connected_gene': 'RPL4P6', 'score': 10.54}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.45}, {'connected_gene': 'C22orf46', 'score': 10.25}, {'connected_gene': 'MKL1', 'score': 10.23}, {'connected_gene': 'LOC100313968', 'score': 9.87}, {'connected_gene': 'CSDC2', 'score': 4.59}, {'connected_gene': 'ACO2', 'score': 0.44}, {'connected_gene': 'GC22M042674', 'score': 0.37}]
chr22	GH22I041815	41815622	41819505	1.02	[{'connected_gene': 'EP300', 'score': 78.97}, {'connected_gene': 'RN7SKP80', 'score': 67.63}, {'connected_gene': 'PHF5A', 'score': 62.5}, {'connected_gene': 'POLDIP3', 'score': 57.74}, {'connected_gene': 'ENSG00000232754', 'score': 34.6}, {'connected_gene': 'RPL5P34', 'score': 32.78}, {'connected_gene': 'RRP7BP', 'score': 32.44}, {'connected_gene': 'L3MBTL2', 'score': 30.67}, {'connected_gene': 'XRCC6', 'score': 28.71}, {'connected_gene': 'DNAJB7', 'score': 28.65}, {'connected_gene': 'SLC25A17', 'score': 23.58}, {'connected_gene': 'MEI1', 'score': 23.52}, {'connected_gene': 'EP300-AS1', 'score': 22.13}, {'connected_gene': 'LOC100506544', 'score': 21.01}, {'connected_gene': 'ZC3H7B', 'score': 20.69}, {'connected_gene': 'SNU13', 'score': 19.47}, {'connected_gene': 'POLR3H', 'score': 18.94}, {'connected_gene': 'TOB2', 'score': 13.65}, {'connected_gene': 'NAGA', 'score': 11.65}, {'connected_gene': 'XPNPEP3', 'score': 10.57}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.48}, {'connected_gene': 'C22orf46', 'score': 10.3}, {'connected_gene': 'TEF', 'score': 10.01}, {'connected_gene': 'WBP2NL', 'score': 9.81}, {'connected_gene': 'ENSG00000227370', 'score': 4.53}, {'connected_gene': 'CCDC134', 'score': 4.36}, {'connected_gene': 'PIR36580', 'score': 0.77}, {'connected_gene': 'PIR35601', 'score': 0.44}]
chr22	GH22I041666	41666202	41668685	1.26	[{'connected_gene': 'RN7SKP80', 'score': 77.42}, {'connected_gene': 'EP300', 'score': 58.47}, {'connected_gene': 'PHF5A', 'score': 50.27}, {'connected_gene': 'RRP7BP', 'score': 38.44}, {'connected_gene': 'POLDIP3', 'score': 36.69}, {'connected_gene': 'ENSG00000232754', 'score': 23.65}, {'connected_gene': 'SLC25A17', 'score': 23.65}, {'connected_gene': 'MEI1', 'score': 22.87}, {'connected_gene': 'NAGA', 'score': 22.51}, {'connected_gene': 'EP300-AS1', 'score': 21.81}, {'connected_gene': 'XRCC6', 'score': 20.32}, {'connected_gene': 'L3MBTL2', 'score': 18.98}, {'connected_gene': 'SNU13', 'score': 11.47}, {'connected_gene': 'LOC100506544', 'score': 10.89}, {'connected_gene': 'TCF20', 'score': 10.82}, {'connected_gene': 'DNAJB7', 'score': 10.76}, {'connected_gene': 'POLR3H', 'score': 10.76}, {'connected_gene': 'XPNPEP3', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.51}, {'connected_gene': 'DESI1', 'score': 10.45}, {'connected_gene': 'RPS9P2', 'score': 10.24}, {'connected_gene': 'ZC3H7B', 'score': 9.9}, {'connected_gene': 'LOC100313968', 'score': 9.87}, {'connected_gene': 'PIR47284', 'score': 0.44}, {'connected_gene': 'PIR49915', 'score': 0.37}]
chr22	GH22I040042	40042279	40046201	2.25	[{'connected_gene': 'ENSG00000261202', 'score': 559.58}, {'connected_gene': 'TNRC6B', 'score': 550.77}, {'connected_gene': 'DNAJB7', 'score': 12.38}, {'connected_gene': 'ADSL', 'score': 11.61}, {'connected_gene': 'MIEF1', 'score': 10.8}, {'connected_gene': 'LOC100313968', 'score': 10.22}, {'connected_gene': 'PIR40250', 'score': 0.44}, {'connected_gene': 'GC22P040039', 'score': 0.44}, {'connected_gene': 'FAM83F', 'score': 0.25}]
chr22	GH22I040862	40862067	40862126	0.5	[{'connected_gene': 'PIR48000', 'score': 550.77}, {'connected_gene': 'DNAJB7', 'score': 550.77}, {'connected_gene': 'XPNPEP3', 'score': 0.44}]
chr22	GH22I040863	40863801	40864286	0.95	[{'connected_gene': 'PIR48000', 'score': 550.77}, {'connected_gene': 'DNAJB7', 'score': 550.77}, {'connected_gene': 'SLC25A17', 'score': 11.27}, {'connected_gene': 'XPNPEP3', 'score': 4.9}, {'connected_gene': 'GC22P040894', 'score': 0.31}]