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
ENST00000484202	[[249104647, 249106569], [249107187, 249108372]]	None
ENST00000366472	[[249104649, 249106569], [249107187, 249107361], [249108647, 249108809], [249110732, 249110861], [249111020, 249111083], [249118951, 249119565], [249120033, 249120832]]	[[249106098, 249106569], [249107187, 249107361], [249108647, 249108809], [249110732, 249110861], [249111020, 249111083], [249118951, 249119134]]
ENST00000475978	[[249104650, 249106569], [249107187, 249107361], [249108647, 249108809], [249108909, 249109076], [249110732, 249110861], [249111020, 249111083], [249114601, 249115111], [249115345, 249115460], [249118951, 249119834]]	None
ENST00000411742	[[249105898, 249106569], [249107187, 249107361], [249108647, 249108809], [249110732, 249110861], [249111020, 249111083], [249111183, 249111272]]	[[249106098, 249106569], [249107187, 249107361], [249108647, 249108809], [249110732, 249110861], [249111020, 249111083], [249111183, 249111270]]
ENST00000494837	[[249110228, 249110861], [249111020, 249111045]]	None
NM_001322462	[[249104644, 249106569], [249107187, 249107361], [249108647, 249108809], [249108909, 249109076], [249110732, 249110861], [249111020, 249111083], [249114601, 249115111], [249115345, 249115460], [249118951, 249119565]]	[[249106098, 249106569], [249107187, 249107361], [249108647, 249108809], [249108909, 249108927]]
NM_001322463	[[249104644, 249106569], [249107187, 249107361], [249108647, 249108809], [249108909, 249109076], [249110732, 249110861], [249111020, 249111083], [249118951, 249119565]]	[[249106098, 249106569], [249107187, 249107361], [249108647, 249108809], [249108909, 249108927]]
NM_001322464	[[249104644, 249106569], [249107187, 249107444], [249108647, 249108809], [249110732, 249110861], [249111020, 249111083], [249118951, 249119565], [249120033, 249120484]]	[[249106098, 249106569], [249107187, 249107397]]
NM_030645	[[249104650, 249106569], [249107187, 249107361], [249108647, 249108809], [249110732, 249110861], [249111020, 249111083], [249118951, 249119565], [249120033, 249120154]]	[[249106098, 249106569], [249107187, 249107361], [249108647, 249108809], [249110732, 249110861], [249111020, 249111083], [249118951, 249119134]]

Promoter

Chrom	Start	End	Description
chr1	249120030	249120041	CAGE_peak_8_at_SH3BP5L_5end
chr1	249120060	249120088	CAGE_peak_1_at_SH3BP5L_5end
chr1	249120105	249120159	CAGE_peak_2_at_SH3BP5L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I248840	248840401	248844064	1.14	[{'connected_gene': 'SH3BP5L', 'score': 7.1}, {'connected_gene': 'ZNF692', 'score': 6.85}, {'connected_gene': 'ZNF672', 'score': 0.77}, {'connected_gene': 'PIR53527', 'score': 0.44}]
chr1	GH01I248862	248862601	248864000	1.54	[{'connected_gene': 'SH3BP5L', 'score': 6.46}, {'connected_gene': 'ZNF692', 'score': 2.58}, {'connected_gene': 'OR14I1', 'score': 1.7}, {'connected_gene': 'ZNF672', 'score': 1.57}, {'connected_gene': 'ENSG00000227237', 'score': 0.77}, {'connected_gene': 'PGBD2', 'score': 0.44}]
chr1	GH01I248851	248851917	248854379	0.72	[{'connected_gene': 'SH3BP5L', 'score': 5.32}, {'connected_gene': 'PIR53527', 'score': 0.77}, {'connected_gene': 'ENSG00000227237', 'score': 0.44}, {'connected_gene': 'ZNF692', 'score': 0.44}]
chr1	GH01I248888	248888914	248891039	1.17	[{'connected_gene': 'SH3BP5L', 'score': 5.07}, {'connected_gene': 'PIR34959', 'score': 0.77}, {'connected_gene': 'PGBD2', 'score': 0.37}, {'connected_gene': 'TRE-CTC2-1', 'score': 0.37}]
chr1	GH01I248710	248710601	248711600	0.2	[{'connected_gene': 'SH3BP5L', 'score': 10.75}, {'connected_gene': 'ENSG00000229255', 'score': 7.51}, {'connected_gene': 'ENSG00000276520', 'score': 0.77}, {'connected_gene': 'AHCYP8', 'score': 0.39}, {'connected_gene': 'LOC101928226', 'score': 0.37}]
chr1	GH01I248803	248803570	248807458	1.04	[{'connected_gene': 'SH3BP5L', 'score': 20.47}, {'connected_gene': 'RNU6-1205P', 'score': 10.35}, {'connected_gene': 'OR2T1', 'score': 10.24}, {'connected_gene': 'GC01P248810', 'score': 0.77}, {'connected_gene': 'LOC100131533', 'score': 0.29}]
chr1	GH01I248820	248820065	248829814	2.74	[{'connected_gene': 'SH3BP5L', 'score': 565.28}, {'connected_gene': 'MIR3124', 'score': 550.77}, {'connected_gene': 'PGBD2', 'score': 33.92}, {'connected_gene': 'ENSG00000227237', 'score': 11.57}, {'connected_gene': 'ZNF692', 'score': 11.55}, {'connected_gene': 'RNU6-1205P', 'score': 10.07}, {'connected_gene': 'RPL23AP25', 'score': 5.08}, {'connected_gene': 'GC01P248810', 'score': 0.39}]
chr1	GH01I248786	248786200	248786401	0.56	[{'connected_gene': 'SH3BP5L', 'score': 10.69}, {'connected_gene': 'LOC100131533', 'score': 0.39}, {'connected_gene': 'GC01P248810', 'score': 0.34}]
chr1	GH01I248816	248816401	248817600	0.69	[{'connected_gene': 'ZNF672', 'score': 11.87}, {'connected_gene': 'ENSG00000227237', 'score': 10.96}, {'connected_gene': 'ZNF692', 'score': 10.96}, {'connected_gene': 'PGBD2', 'score': 10.26}, {'connected_gene': 'SH3BP5L', 'score': 9.54}, {'connected_gene': 'MIR3124', 'score': 0.44}, {'connected_gene': 'GC01P248810', 'score': 0.44}]
chr1	GH01I248924	248924689	248927201	1.07	[{'connected_gene': 'ZNF672', 'score': 11.48}, {'connected_gene': 'ENSG00000227237', 'score': 11.35}, {'connected_gene': 'ZNF692', 'score': 11.35}, {'connected_gene': 'PGBD2', 'score': 11.03}, {'connected_gene': 'SH3BP5L', 'score': 10.72}, {'connected_gene': 'PIR45582', 'score': 0.77}, {'connected_gene': 'PIR40629', 'score': 0.44}, {'connected_gene': 'GC01P248921', 'score': 0.44}]
chr1	GH01I248871	248871678	248874909	1.49	[{'connected_gene': 'PGBD2', 'score': 564.61}, {'connected_gene': 'TRL-CAA4-1', 'score': 550.77}, {'connected_gene': 'PIR45492', 'score': 550.77}, {'connected_gene': 'TRE-CTC2-1', 'score': 550.77}, {'connected_gene': 'SH3BP5L', 'score': 18.46}, {'connected_gene': 'ZNF692', 'score': 15.09}, {'connected_gene': 'RNU6-1205P', 'score': 11.37}]
chr1	GH01I248443	248443582	248453931	0.65	[{'connected_gene': 'OR2T1', 'score': 11.6}, {'connected_gene': 'ENSG00000229255', 'score': 6.6}, {'connected_gene': 'SH3BP5L', 'score': 4.61}, {'connected_gene': 'OR2T2', 'score': 0.77}, {'connected_gene': 'OR2T7', 'score': 0.39}, {'connected_gene': 'OR2T3', 'score': 0.34}]
chr1	GH01I248438	248438484	248439979	0.46	[{'connected_gene': 'OR2T1', 'score': 11.63}, {'connected_gene': 'ENSG00000229255', 'score': 6.59}, {'connected_gene': 'OR2T34', 'score': 5.1}, {'connected_gene': 'SH3BP5L', 'score': 4.47}, {'connected_gene': 'OR2T7', 'score': 0.77}, {'connected_gene': 'OR2T2', 'score': 0.44}]
chr1	GH01I248886	248886600	248886801	0.66	[{'connected_gene': 'RNU6-1205P', 'score': 12.02}, {'connected_gene': 'ZNF672', 'score': 11.64}, {'connected_gene': 'ENSG00000227237', 'score': 11.54}, {'connected_gene': 'ZNF692', 'score': 11.54}, {'connected_gene': 'SH3BP5L', 'score': 10.9}, {'connected_gene': 'PIR34959', 'score': 0.44}, {'connected_gene': 'PGBD2', 'score': 0.39}, {'connected_gene': 'TRE-CTC2-1', 'score': 0.39}]
chr1	GH01I248883	248883530	248883654	0.2	[{'connected_gene': 'RNU6-1205P', 'score': 12.02}, {'connected_gene': 'ZNF672', 'score': 11.64}, {'connected_gene': 'ENSG00000227237', 'score': 11.57}, {'connected_gene': 'ZNF692', 'score': 11.57}, {'connected_gene': 'SH3BP5L', 'score': 10.91}, {'connected_gene': 'PIR34959', 'score': 0.44}, {'connected_gene': 'TRE-CTC2-1', 'score': 0.44}, {'connected_gene': 'PGBD2', 'score': 0.39}]
chr1	GH01I248774	248774591	248776900	0.2	[{'connected_gene': 'LOC100131533', 'score': 550.77}, {'connected_gene': 'SH3BP5L', 'score': 5.96}, {'connected_gene': 'GC01P248810', 'score': 0.29}]
chr1	GH01I248658	248658921	248660392	0.2	[{'connected_gene': 'ENSG00000229255', 'score': 8.09}, {'connected_gene': 'LOC101928226', 'score': 7.03}, {'connected_gene': 'SH3BP5L', 'score': 5.49}, {'connected_gene': 'OR2T27', 'score': 0.77}, {'connected_gene': 'OR14I1', 'score': 0.28}]