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
ENST00000378756	[[1447530, 1447853], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1470065]]	[[1447648, 1447853], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1469452]]
ENST00000378755	[[1447554, 1447853], [1451391, 1451468], [1452546, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1470065]]	[[1447648, 1447853], [1451391, 1451468], [1452546, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1469452]]
ENST00000339113	[[1447909, 1448070], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1470065]]	[[1447909, 1448070], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1469452]]
ENST00000536055	[[1447909, 1448070], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1470067]]	[[1451423, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1469452]]
ENST00000439513	[[1452449, 1452792], [1453095, 1453155]]	None
ENST00000429957	[[1453000, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458160]]	None
ENST00000400830	[[1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1462540, 1462618], [1463074, 1463242], [1464602, 1464711]]	[[1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1462540, 1462618], [1463074, 1463242], [1464602, 1464711]]
NM_001170535	[[1447522, 1447853], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1470067]]	[[1447648, 1447853], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1469452]]
NM_018188	[[1447522, 1447853], [1451391, 1451468], [1452546, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1470067]]	[[1447648, 1447853], [1451391, 1451468], [1452546, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1469452]]
NM_001170536	[[1447909, 1448070], [1451391, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1470067]]	[[1451423, 1451468], [1452690, 1452792], [1453095, 1453155], [1454300, 1454370], [1455520, 1455686], [1455927, 1455997], [1458123, 1458279], [1458890, 1458947], [1459218, 1459344], [1459652, 1459777], [1460619, 1460671], [1461840, 1461911], [1463074, 1463242], [1464602, 1464711], [1469305, 1469452]]

Promoter

Chrom	Start	End	Description
chr1	1447517	1447556	CAGE_peak_1_at_ATAD3A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I001504	1504481	1506388	1.21	[{'connected_gene': 'ATAD3B', 'score': 5.5}, {'connected_gene': 'MTCO1P12', 'score': 4.26}, {'connected_gene': 'ENSG00000284740', 'score': 0.77}, {'connected_gene': 'ATAD3A', 'score': 0.44}, {'connected_gene': 'GC01P001494', 'score': 0.39}]
chr1	GH01I001510	1510601	1513211	2.1	[{'connected_gene': 'ATAD3A', 'score': 550.77}, {'connected_gene': 'ATAD3B', 'score': 39.44}, {'connected_gene': 'ENSG00000230092', 'score': 25.95}, {'connected_gene': 'INTS11', 'score': 23.08}, {'connected_gene': 'CCNL2', 'score': 20.62}, {'connected_gene': 'CDK11A', 'score': 20.19}, {'connected_gene': 'NOC2L', 'score': 17.79}, {'connected_gene': 'LOC100288379', 'score': 14.97}, {'connected_gene': 'ENSG00000237094', 'score': 14.01}, {'connected_gene': 'RER1', 'score': 14.0}, {'connected_gene': 'SDF4', 'score': 13.92}, {'connected_gene': 'ENSG00000240731', 'score': 12.52}, {'connected_gene': 'LINC01770', 'score': 11.8}, {'connected_gene': 'VWA1', 'score': 11.8}, {'connected_gene': 'CDK11B', 'score': 11.16}, {'connected_gene': 'LOC100288069', 'score': 10.89}, {'connected_gene': 'UBE2J2', 'score': 10.63}, {'connected_gene': 'MXRA8', 'score': 10.51}, {'connected_gene': 'FAM87B', 'score': 10.19}, {'connected_gene': 'FAAP20', 'score': 10.02}, {'connected_gene': 'ANKRD65', 'score': 8.16}, {'connected_gene': 'ATAD3C', 'score': 5.95}, {'connected_gene': 'ENSG00000284740', 'score': 0.44}, {'connected_gene': 'GC01P001494', 'score': 0.37}]
chr1	GH01I001521	1521296	1521319	0.22	[{'connected_gene': 'ATAD3A', 'score': 0.44}, {'connected_gene': 'TMEM240', 'score': 0.37}, {'connected_gene': 'GC01P001494', 'score': 0.31}]
chr1	GH01I001297	1297401	1300920	0.74	[{'connected_gene': 'ANKRD65', 'score': 15.85}, {'connected_gene': 'SCNN1D', 'score': 11.62}, {'connected_gene': 'ATAD3A', 'score': 4.99}, {'connected_gene': 'MIR6726', 'score': 0.77}, {'connected_gene': 'PUSL1', 'score': 0.44}, {'connected_gene': 'ACAP3', 'score': 0.39}]
chr1	GH01I001019	1019001	1022441	2.49	[{'connected_gene': 'AGRN', 'score': 565.92}, {'connected_gene': 'ENSG00000272512', 'score': 20.53}, {'connected_gene': 'PLEKHN1', 'score': 5.59}, {'connected_gene': 'C1orf159', 'score': 2.37}, {'connected_gene': 'UBE2J2', 'score': 2.01}, {'connected_gene': 'DVL1', 'score': 1.99}, {'connected_gene': 'CPTP', 'score': 1.95}, {'connected_gene': 'ISG15', 'score': 1.8}, {'connected_gene': 'PUSL1', 'score': 1.69}, {'connected_gene': 'NOC2L', 'score': 1.67}, {'connected_gene': 'AURKAIP1', 'score': 1.58}, {'connected_gene': 'INTS11', 'score': 1.5}, {'connected_gene': 'ATAD3A', 'score': 1.34}, {'connected_gene': 'PIR57007', 'score': 0.34}]
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	GH01I001196	1196868	1204856	1.67	[{'connected_gene': 'GC01P001200', 'score': 550.77}, {'connected_gene': 'ATAD3B', 'score': 25.57}, {'connected_gene': 'INTS11', 'score': 18.0}, {'connected_gene': 'SDF4', 'score': 17.08}, {'connected_gene': 'CCNL2', 'score': 15.75}, {'connected_gene': 'NOC2L', 'score': 15.32}, {'connected_gene': 'ENSG00000230092', 'score': 14.99}, {'connected_gene': 'ENSG00000240731', 'score': 14.37}, {'connected_gene': 'CDK11A', 'score': 13.63}, {'connected_gene': 'LOC100288379', 'score': 13.21}, {'connected_gene': 'UBE2J2', 'score': 11.61}, {'connected_gene': 'SLC35E2', 'score': 11.58}, {'connected_gene': 'CICP3', 'score': 11.48}, {'connected_gene': 'ATAD3A', 'score': 11.28}, {'connected_gene': 'LOC100129381', 'score': 11.19}, {'connected_gene': 'LINC00115', 'score': 10.75}, {'connected_gene': 'PUSL1', 'score': 10.63}, {'connected_gene': 'CDK11B', 'score': 10.17}, {'connected_gene': 'LOC105378580', 'score': 9.77}, {'connected_gene': 'ENSG00000237094', 'score': 9.69}, {'connected_gene': 'ANKRD65', 'score': 9.32}, {'connected_gene': 'TNFRSF18', 'score': 8.81}, {'connected_gene': 'SCNN1D', 'score': 7.4}, {'connected_gene': 'B3GALT6', 'score': 7.19}, {'connected_gene': 'AURKAIP1', 'score': 4.96}, {'connected_gene': 'HES4', 'score': 2.44}, {'connected_gene': 'ISG15', 'score': 2.33}, {'connected_gene': 'MIB2', 'score': 1.13}, {'connected_gene': 'GC01M001197', 'score': 0.77}, {'connected_gene': 'GC01M001193', 'score': 0.77}, {'connected_gene': 'TTLL10', 'score': 0.31}, {'connected_gene': 'GC01M001138', 'score': 0.21}]