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
ENST00000291386	[[1477052, 1477547], [1479248, 1479367], [1480242, 1480382], [1500152, 1500296], [1509857, 1510249]]	[[1477445, 1477547], [1479248, 1479367], [1480242, 1480382], [1500152, 1500296], [1509857, 1509937]]
ENST00000378726	[[1477053, 1477547], [1479248, 1479367], [1480242, 1481867]]	None
ENST00000378725	[[1480017, 1480382], [1500152, 1500296], [1509857, 1509967]]	None
ENST00000359060	[[1497724, 1500296], [1509857, 1509964]]	[[1499914, 1500296], [1509857, 1509937]]
NM_014188	[[1477052, 1477547], [1479248, 1479367], [1480242, 1480382], [1500152, 1500296], [1509857, 1510262]]	[[1477445, 1477547], [1479248, 1479367], [1480242, 1480382], [1500152, 1500296], [1509857, 1509937]]

Promoter

Chrom	Start	End	Description
chr1	1482233	1482242	CAGE_peak_4_at_SSU72_5end
chr1	1509931	1509994	CAGE_peak_3_at_SSU72_5end
chr1	1509995	1510032	CAGE_peak_2_at_SSU72_5end
chr1	1510204	1510267	CAGE_peak_1_at_SSU72_5end
chr1	1510749	1510760	CAGE_peak_5_at_SSU72_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I001470	1470214	1473201	2.03	[{'connected_gene': 'ATAD3B', 'score': 563.55}, {'connected_gene': 'GC01M001453', 'score': 550.77}, {'connected_gene': 'CDK11A', 'score': 20.18}, {'connected_gene': 'ENSG00000230092', 'score': 15.77}, {'connected_gene': 'LOC100288379', 'score': 14.96}, {'connected_gene': 'ATAD3C', 'score': 14.17}, {'connected_gene': 'ENSG00000237094', 'score': 14.0}, {'connected_gene': 'RER1', 'score': 14.0}, {'connected_gene': 'SDF4', 'score': 13.93}, {'connected_gene': 'CCNL2', 'score': 12.74}, {'connected_gene': 'INTS11', 'score': 11.82}, {'connected_gene': 'ANKRD65', 'score': 11.23}, {'connected_gene': 'CDK11B', 'score': 11.13}, {'connected_gene': 'LOC100288069', 'score': 10.89}, {'connected_gene': 'UBE2J2', 'score': 10.65}, {'connected_gene': 'FAAP20', 'score': 10.02}, {'connected_gene': 'ENSG00000272455', 'score': 6.5}, {'connected_gene': 'SSU72', 'score': 5.12}, {'connected_gene': 'GC01P001458', 'score': 0.39}]
chr1	GH01I001550	1550350	1552297	0.63	[{'connected_gene': 'ATAD3B', 'score': 14.66}, {'connected_gene': 'SSU72', 'score': 10.2}, {'connected_gene': 'ATAD3C', 'score': 9.73}, {'connected_gene': 'GC01M001538', 'score': 0.77}, {'connected_gene': 'TMEM240', 'score': 0.39}]
chr1	GH01I001397	1397376	1402851	2.12	[{'connected_gene': 'CCNL2', 'score': 609.67}, {'connected_gene': 'LOC148413', 'score': 550.77}, {'connected_gene': 'INTS11', 'score': 57.65}, {'connected_gene': 'ATAD3B', 'score': 51.65}, {'connected_gene': 'ENSG00000240731', 'score': 49.74}, {'connected_gene': 'LOC100288379', 'score': 49.23}, {'connected_gene': 'ENSG00000230092', 'score': 47.66}, {'connected_gene': 'CDK11A', 'score': 37.58}, {'connected_gene': 'SLC35E2', 'score': 30.94}, {'connected_gene': 'LOC100129381', 'score': 29.01}, {'connected_gene': 'SLC35E2B', 'score': 27.31}, {'connected_gene': 'NOC2L', 'score': 26.71}, {'connected_gene': 'CDK11B', 'score': 24.42}, {'connected_gene': 'LINC00115', 'score': 23.49}, {'connected_gene': 'ANKRD65', 'score': 22.88}, {'connected_gene': 'ENSG00000237094', 'score': 21.8}, {'connected_gene': 'LOC100288069', 'score': 20.33}, {'connected_gene': 'UBE2J2', 'score': 19.38}, {'connected_gene': 'FAAP20', 'score': 18.85}, {'connected_gene': 'RER1', 'score': 13.76}, {'connected_gene': 'CICP3', 'score': 12.47}, {'connected_gene': 'ATAD3C', 'score': 12.28}, {'connected_gene': 'SDF4', 'score': 12.18}, {'connected_gene': 'MXRA8', 'score': 10.68}, {'connected_gene': 'ENSG00000272455', 'score': 10.66}, {'connected_gene': 'PUSL1', 'score': 10.37}, {'connected_gene': 'FAM87B', 'score': 10.19}, {'connected_gene': 'MRPL20', 'score': 10.16}, {'connected_gene': 'SSU72', 'score': 5.67}, {'connected_gene': 'AURKAIP1', 'score': 4.89}, {'connected_gene': 'RN7SL657P', 'score': 0.44}, {'connected_gene': 'GC01M001386', 'score': 0.39}]
chr1	GH01I001566	1566763	1568896	0.46	[{'connected_gene': 'VWA1', 'score': 10.96}, {'connected_gene': 'LINC01770', 'score': 10.96}, {'connected_gene': 'SSU72', 'score': 10.06}, {'connected_gene': 'MTND1P23', 'score': 6.67}, {'connected_gene': 'PIR50490', 'score': 0.77}, {'connected_gene': 'GC01P001570', 'score': 0.77}]
chr1	GH01I001539	1539210	1541473	1.54	[{'connected_gene': 'TMEM240', 'score': 550.77}, {'connected_gene': 'ATAD3B', 'score': 11.31}, {'connected_gene': 'SSU72', 'score': 9.22}, {'connected_gene': 'ENSG00000272512', 'score': 4.32}, {'connected_gene': 'GC01M001538', 'score': 0.39}, {'connected_gene': 'ATAD3A', 'score': 0.31}]
chr1	GH01I001542	1542870	1544182	0.59	[{'connected_gene': 'SSU72', 'score': 10.1}, {'connected_gene': 'ANKRD65', 'score': 4.77}, {'connected_gene': 'TMEM240', 'score': 0.77}, {'connected_gene': 'GC01M001538', 'score': 0.39}]
chr1	GH01I001573	1573069	1576192	2.08	[{'connected_gene': 'SSU72', 'score': 560.39}, {'connected_gene': 'ENSG00000215014', 'score': 555.29}, {'connected_gene': 'GC01P001575', 'score': 550.77}, {'connected_gene': 'NOC2L', 'score': 27.0}, {'connected_gene': 'INTS11', 'score': 13.12}, {'connected_gene': 'ENSG00000240731', 'score': 12.5}, {'connected_gene': 'ENSG00000230092', 'score': 12.03}, {'connected_gene': 'ATAD3B', 'score': 10.54}, {'connected_gene': 'MXRA8', 'score': 10.48}, {'connected_gene': 'FAM87B', 'score': 10.19}, {'connected_gene': 'CCNL2', 'score': 9.74}, {'connected_gene': 'GC01P001570', 'score': 0.77}, {'connected_gene': 'GC01M001580', 'score': 0.77}, {'connected_gene': 'GC01M001578', 'score': 0.44}]
chr1	GH01I001554	1554329	1555967	0.79	[{'connected_gene': 'GC01M001538', 'score': 550.77}, {'connected_gene': 'SLC35E2', 'score': 11.71}, {'connected_gene': 'VWA1', 'score': 11.7}, {'connected_gene': 'LINC01770', 'score': 11.7}, {'connected_gene': 'LOC100129381', 'score': 10.49}, {'connected_gene': 'SSU72', 'score': 9.95}, {'connected_gene': 'ENSG00000272455', 'score': 9.87}, {'connected_gene': 'PIR34017', 'score': 0.44}]
chr1	GH01I001576	1576221	1576370	0.57	[{'connected_gene': 'ENSG00000215014', 'score': 550.77}, {'connected_gene': 'SSU72', 'score': 550.77}, {'connected_gene': 'GC01P001575', 'score': 550.77}, {'connected_gene': 'GC01P001576', 'score': 550.77}, {'connected_gene': 'GC01M001580', 'score': 0.77}, {'connected_gene': 'GC01M001578', 'score': 0.44}]