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
ENST00000252674	[[6212965, 6213181], [6213347, 6213419], [6213736, 6213808], [6213949, 6214049], [6216415, 6216524], [6217964, 6218052], [6222131, 6222695], [6226987, 6227113], [6230580, 6230724], [6262238, 6262321], [6270589, 6270770], [6279783, 6279959]]	[[6213052, 6213181], [6213347, 6213419], [6213736, 6213808], [6213949, 6214049], [6216415, 6216524], [6217964, 6218052], [6222131, 6222695], [6226987, 6227113], [6230580, 6230724], [6262238, 6262321], [6270589, 6270770], [6279783, 6279795]]
ENST00000585588	[[6213130, 6213181], [6213347, 6213419], [6213736, 6213808], [6213949, 6214049], [6216415, 6216524], [6216746, 6216979]]	None
NM_005934	[[6210391, 6213181], [6213347, 6213419], [6213736, 6213808], [6213949, 6214049], [6216415, 6216524], [6217964, 6218052], [6222131, 6222695], [6226987, 6227113], [6230580, 6230724], [6262238, 6262321], [6270589, 6270770], [6279783, 6279959]]	[[6213052, 6213181], [6213347, 6213419], [6213736, 6213808], [6213949, 6214049], [6216415, 6216524], [6217964, 6218052], [6222131, 6222695], [6226987, 6227113], [6230580, 6230724], [6262238, 6262321], [6270589, 6270770], [6279783, 6279795]]

Promoter

Chrom	Start	End	Description
chr19	6279932	6280000	CAGE_peak_1_at_MLLT1_5end
chr19	6280007	6280019	CAGE_peak_3_at_MLLT1_5end
chr19	6280025	6280040	CAGE_peak_2_at_MLLT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I006215	6215897	6224722	1.28	[{'connected_gene': 'ACSBG2', 'score': 11.62}, {'connected_gene': 'RFX2', 'score': 11.3}, {'connected_gene': 'NDUFA11', 'score': 10.09}, {'connected_gene': 'VMAC', 'score': 10.09}, {'connected_gene': 'FUT5', 'score': 10.08}, {'connected_gene': 'SLC25A23', 'score': 4.67}, {'connected_gene': 'GC19M006213', 'score': 0.44}, {'connected_gene': 'GC19M006237', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.22}]
chr19	GH19I006228	6228771	6229110	0.79	[{'connected_gene': 'ACSBG2', 'score': 11.61}, {'connected_gene': 'RFX2', 'score': 11.28}, {'connected_gene': 'NDUFA11', 'score': 10.08}, {'connected_gene': 'VMAC', 'score': 10.08}, {'connected_gene': 'FUT5', 'score': 10.08}, {'connected_gene': 'GC19M006237', 'score': 0.44}, {'connected_gene': 'GC19M006213', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.23}]
chr19	GH19I006267	6267417	6269285	0.52	[{'connected_gene': 'ACSBG2', 'score': 11.2}, {'connected_gene': 'MLLT1', 'score': 5.61}, {'connected_gene': 'ENSG00000280394', 'score': 0.77}]
chr19	GH19I006480	6480772	6482990	1.83	[{'connected_gene': 'DENND1C', 'score': 550.77}, {'connected_gene': 'SLC25A23', 'score': 6.82}, {'connected_gene': 'SLC25A41', 'score': 5.44}, {'connected_gene': 'MLLT1', 'score': 5.24}, {'connected_gene': 'ENSG00000275234', 'score': 0.39}]
chr19	GH19I006232	6232164	6235127	0.92	[{'connected_gene': 'NRTN', 'score': 5.98}, {'connected_gene': 'GC19M006237', 'score': 0.77}, {'connected_gene': 'GC19M006213', 'score': 0.34}, {'connected_gene': 'MLLT1', 'score': 0.25}]
chr19	GH19I006270	6270025	6280679	2.77	[{'connected_gene': 'MLLT1', 'score': 558.49}, {'connected_gene': 'DUS3L', 'score': 72.52}, {'connected_gene': 'ZNF557', 'score': 62.77}, {'connected_gene': 'KHSRP', 'score': 62.0}, {'connected_gene': 'SNRPEP4', 'score': 46.16}, {'connected_gene': 'SAFB', 'score': 31.58}, {'connected_gene': 'ENSG00000267571', 'score': 25.37}, {'connected_gene': 'VMAC', 'score': 17.23}, {'connected_gene': 'GPR108', 'score': 15.25}, {'connected_gene': 'RANBP3', 'score': 11.97}, {'connected_gene': 'ACSBG2', 'score': 11.56}, {'connected_gene': 'PTPRS', 'score': 11.37}, {'connected_gene': 'SAFB2', 'score': 11.12}, {'connected_gene': 'ALKBH7', 'score': 10.14}, {'connected_gene': 'GTF2F1', 'score': 10.07}, {'connected_gene': 'VAV1', 'score': 6.52}, {'connected_gene': 'SLC25A23', 'score': 5.36}, {'connected_gene': 'PSPN', 'score': 4.99}, {'connected_gene': 'RFX2', 'score': 2.58}, {'connected_gene': 'DENND1C', 'score': 1.52}, {'connected_gene': 'NDUFA11', 'score': 1.26}, {'connected_gene': 'ENSG00000280394', 'score': 0.39}]
chr19	GH19I006227	6227147	6228692	0.31	[{'connected_gene': 'FUT5', 'score': 15.63}, {'connected_gene': 'ACSBG2', 'score': 11.61}, {'connected_gene': 'RFX2', 'score': 11.28}, {'connected_gene': 'NDUFA11', 'score': 10.08}, {'connected_gene': 'VMAC', 'score': 10.08}, {'connected_gene': 'GC19M006237', 'score': 0.39}, {'connected_gene': 'GC19M006213', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.23}]
chr19	GH19I006236	6236739	6237459	0.94	[{'connected_gene': 'GC19P006239', 'score': 550.77}, {'connected_gene': 'GC19M006237', 'score': 550.77}, {'connected_gene': 'PIR51891', 'score': 550.77}, {'connected_gene': 'TRIP10', 'score': 9.98}, {'connected_gene': 'GC19M006213', 'score': 0.34}, {'connected_gene': 'MLLT1', 'score': 0.26}]
chr19	GH19I006237	6237850	6240544	1.51	[{'connected_gene': 'GC19P006239', 'score': 550.77}, {'connected_gene': 'GC19M006237', 'score': 550.77}, {'connected_gene': 'PIR51891', 'score': 550.77}, {'connected_gene': 'RFX2', 'score': 2.11}, {'connected_gene': 'GC19M006242', 'score': 0.77}, {'connected_gene': 'MLLT1', 'score': 0.26}]
chr19	GH19I006263	6263628	6264818	0.72	[{'connected_gene': 'ENSG00000280394', 'score': 550.77}, {'connected_gene': 'MLLT1', 'score': 0.37}]
chr19	GH19I006230	6230649	6231488	0.49	[{'connected_gene': 'GC19M006237', 'score': 0.44}, {'connected_gene': 'GC19M006213', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.25}]
chr19	GH19I006258	6258900	6259100	0.63	[{'connected_gene': 'ENSG00000267563', 'score': 550.77}, {'connected_gene': 'GC19M006242', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.34}]
chr19	GH19I006248	6248652	6250046	0.71	[{'connected_gene': 'ENSG00000267563', 'score': 0.44}, {'connected_gene': 'GC19M006242', 'score': 0.44}, {'connected_gene': 'MLLT1', 'score': 0.29}]
chr19	GH19I006260	6260990	6261139	0.72	[{'connected_gene': 'ENSG00000267563', 'score': 550.77}, {'connected_gene': 'GC19P006261', 'score': 550.77}, {'connected_gene': 'MLLT1', 'score': 0.37}]
chr19	GH19I006262	6258070	6258219	0.57	[{'connected_gene': 'ENSG00000267563', 'score': 550.77}, {'connected_gene': 'GC19M006242', 'score': 0.39}, {'connected_gene': 'MLLT1', 'score': 0.34}]
chr19	GH19I006250	6250168	6250894	0.58	[{'connected_gene': 'ENSG00000267563', 'score': 0.44}, {'connected_gene': 'GC19M006242', 'score': 0.44}, {'connected_gene': 'MLLT1', 'score': 0.31}]
chr19	GH19I006241	6241350	6244800	1.12	[{'connected_gene': 'GC19M006242', 'score': 550.77}, {'connected_gene': 'GC19P006239', 'score': 0.77}, {'connected_gene': 'PIR51891', 'score': 0.77}, {'connected_gene': 'MLLT1', 'score': 0.28}]
chr19	GH19I006257	6257870	6258019	0.56	[{'connected_gene': 'ENSG00000267563', 'score': 550.77}, {'connected_gene': 'GC19M006242', 'score': 0.39}, {'connected_gene': 'MLLT1', 'score': 0.34}]
chr19	GH19I006251	6251001	6251400	0.63	[{'connected_gene': 'ENSG00000267563', 'score': 0.44}, {'connected_gene': 'GC19M006242', 'score': 0.44}, {'connected_gene': 'MLLT1', 'score': 0.31}]
chr19	GH19I006240	6240576	6241013	0.4	[{'connected_gene': 'GC19P006239', 'score': 0.77}, {'connected_gene': 'PIR51891', 'score': 0.77}, {'connected_gene': 'GC19M006242', 'score': 0.77}, {'connected_gene': 'MLLT1', 'score': 0.28}]
chr19	GH19I006261	6261819	6262859	0.2	[{'connected_gene': 'GC19P006261', 'score': 550.77}, {'connected_gene': 'ENSG00000280394', 'score': 550.77}, {'connected_gene': 'MLLT1', 'score': 6.4}]
chr19	GH19I006259	6259219	6260250	0.83	[{'connected_gene': 'ENSG00000267563', 'score': 550.77}, {'connected_gene': 'GC19P006261', 'score': 550.77}, {'connected_gene': 'FUT5', 'score': 5.44}, {'connected_gene': 'MLLT1', 'score': 0.34}]
chr19	GH19I006210	6210622	6211309	0.4	[{'connected_gene': 'GC19M006213', 'score': 550.77}, {'connected_gene': 'LOC105372255', 'score': 0.39}, {'connected_gene': 'RFX2', 'score': 0.39}, {'connected_gene': 'MLLT1', 'score': 0.2}]