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
ENST00000306534	[[124753586, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124767157], [124767621, 124768177]]	[[124754786, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124767157], [124767621, 124767691]]
ENST00000534407	[[124754113, 124754809], [124754936, 124755143], [124756359, 124757736], [124761194, 124761458], [124761561, 124762921]]	None
ENST00000533054	[[124754606, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124766951], [124767621, 124767764]]	[[124754786, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766531]]
ENST00000532216	[[124756275, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763848]]	None
ENST00000525182	[[124761383, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764341]]	None
ENST00000532300	[[124765686, 124765808], [124766093, 124766214], [124766408, 124766742]]	None
ENST00000526899	[[124765695, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124767157], [124768293, 124768390]]	None
ENST00000527279	[[124765756, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124766951], [124768293, 124768396]]	None
ENST00000529941	[[124766511, 124766566], [124766827, 124767157], [124767483, 124767528], [124767621, 124767742]]	None
ENST00000533337	[[124766667, 124767157], [124767621, 124767764]]	None
NM_019055	[[124754113, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124767157], [124767621, 124767831]]	[[124754786, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124767157], [124767621, 124767691]]
NM_001301088	[[124754113, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766566], [124766827, 124766951], [124767621, 124767831]]	[[124754786, 124754809], [124754936, 124755143], [124756359, 124756718], [124756872, 124757109], [124757253, 124757395], [124757628, 124757736], [124761194, 124761458], [124761561, 124761698], [124763583, 124763626], [124763755, 124763941], [124764096, 124764265], [124764976, 124765089], [124765352, 124765581], [124765680, 124765808], [124766093, 124766214], [124766408, 124766531]]

Promoter

Chrom	Start	End	Description
chr11	124764093	124764097	CAGE_peak_4_at_ROBO4_5end
chr11	124767043	124767111	CAGE_peak_2_at_ROBO4_5end
chr11	124767693	124767774	CAGE_peak_1_at_ROBO4_5end
chr11	124767798	124767809	CAGE_peak_3_at_ROBO4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I124757	124757925	124764348	2.38	[{'connected_gene': 'ESAM', 'score': 563.31}, {'connected_gene': 'ROBO4', 'score': 17.27}, {'connected_gene': 'VSIG2', 'score': 5.77}, {'connected_gene': 'SPA17', 'score': 5.7}, {'connected_gene': 'NRGN', 'score': 5.69}, {'connected_gene': 'LOC101929340', 'score': 0.77}, {'connected_gene': 'GC11P124760', 'score': 0.77}]
chr11	GH11I125146	125146365	125146494	0.38	[{'connected_gene': 'CCDC15', 'score': 10.48}, {'connected_gene': 'ROBO4', 'score': 9.7}, {'connected_gene': 'ENSG00000255475', 'score': 0.44}, {'connected_gene': 'PKNOX2-AS1', 'score': 0.37}]
chr11	GH11I124953	124953070	124955167	2.25	[{'connected_gene': 'CCDC15', 'score': 610.99}, {'connected_gene': 'LOC105369547', 'score': 550.77}, {'connected_gene': 'ROBO4', 'score': 9.81}, {'connected_gene': 'ROBO3', 'score': 5.21}]
chr11	GH11I123972	123972957	123975207	0.38	[{'connected_gene': 'ZNF202', 'score': 5.67}, {'connected_gene': 'NRGN', 'score': 4.74}, {'connected_gene': 'ROBO4', 'score': 4.51}, {'connected_gene': 'GC11M123977', 'score': 0.77}, {'connected_gene': 'GC11P123969', 'score': 0.77}, {'connected_gene': 'OR6T1', 'score': 0.37}]
chr11	GH11I124836	124836087	124838070	0.94	[{'connected_gene': 'ROBO3', 'score': 11.97}, {'connected_gene': 'MSANTD2', 'score': 11.93}, {'connected_gene': 'LOC100507283', 'score': 11.93}, {'connected_gene': 'SIAE', 'score': 11.35}, {'connected_gene': 'SPA17', 'score': 11.33}, {'connected_gene': 'ESAM', 'score': 11.0}, {'connected_gene': 'LOC101929340', 'score': 10.99}, {'connected_gene': 'VSIG2', 'score': 10.98}, {'connected_gene': 'ENSG00000255045', 'score': 10.97}, {'connected_gene': 'NRGN', 'score': 10.86}, {'connected_gene': 'ROBO4', 'score': 9.57}, {'connected_gene': 'CCDC15', 'score': 9.3}, {'connected_gene': 'GC11M124844', 'score': 0.44}, {'connected_gene': 'GC11M124812', 'score': 0.34}]
chr11	GH11I124922	124922212	124924241	0.2	[{'connected_gene': 'ROBO3', 'score': 16.88}, {'connected_gene': 'ROBO4', 'score': 11.38}, {'connected_gene': 'ENSG00000254943', 'score': 10.97}, {'connected_gene': 'CCDC15', 'score': 10.82}, {'connected_gene': 'HEPACAM', 'score': 5.85}, {'connected_gene': 'LOC105369549', 'score': 5.67}, {'connected_gene': 'HEPN1', 'score': 0.77}, {'connected_gene': 'PIR60526', 'score': 0.39}]
chr11	GH11I124886	124886369	124887119	0.2	[{'connected_gene': 'ROBO3', 'score': 13.62}, {'connected_gene': 'ENSG00000254568', 'score': 0.77}, {'connected_gene': 'GC11P124889', 'score': 0.77}, {'connected_gene': 'ROBO4', 'score': 0.39}]
chr11	GH11I124894	124893625	124901850	2.14	[{'connected_gene': 'ROBO4', 'score': 561.21}, {'connected_gene': 'ROBO3', 'score': 24.15}, {'connected_gene': 'HEPACAM', 'score': 10.38}, {'connected_gene': 'CCDC15', 'score': 9.91}, {'connected_gene': 'ENSG00000254943', 'score': 0.44}]
chr11	GH11I124916	124915645	124915794	0.51	[{'connected_gene': 'ROBO4', 'score': 5.69}, {'connected_gene': 'GC11M124917', 'score': 0.77}]
chr11	GH11I124717	124717269	124718600	1.29	[{'connected_gene': 'SPA17', 'score': 21.24}, {'connected_gene': 'ESAM', 'score': 15.22}, {'connected_gene': 'NRGN', 'score': 14.11}, {'connected_gene': 'ENSG00000255045', 'score': 12.22}, {'connected_gene': 'VSIG2', 'score': 12.19}, {'connected_gene': 'SIAE', 'score': 12.18}, {'connected_gene': 'LOC101929340', 'score': 12.17}, {'connected_gene': 'ROBO3', 'score': 9.39}, {'connected_gene': 'ROBO4', 'score': 1.67}, {'connected_gene': 'GC11P124740', 'score': 0.34}]
chr11	GH11I125068	125068300	125076483	1.72	[{'connected_gene': 'SLC37A2', 'score': 22.25}, {'connected_gene': 'CCDC15', 'score': 21.88}, {'connected_gene': 'TMEM218', 'score': 11.12}, {'connected_gene': 'KRT18P59', 'score': 11.11}, {'connected_gene': 'ENSG00000255475', 'score': 10.27}, {'connected_gene': 'ROBO4', 'score': 9.9}, {'connected_gene': 'HEPACAM', 'score': 9.27}, {'connected_gene': 'LOC105369549', 'score': 6.04}, {'connected_gene': 'TBRG1', 'score': 3.07}, {'connected_gene': 'GC11M125054', 'score': 0.44}, {'connected_gene': 'PIR45309', 'score': 0.44}]
chr11	GH11I124887	124887703	124889978	0.2	[{'connected_gene': 'GC11P124889', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 14.76}, {'connected_gene': 'ROBO4', 'score': 10.91}, {'connected_gene': 'ENSG00000254568', 'score': 0.44}]
chr11	GH11I124883	124883680	124886042	0.38	[{'connected_gene': 'ENSG00000254568', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 14.69}, {'connected_gene': 'GC11P124889', 'score': 0.44}, {'connected_gene': 'ROBO4', 'score': 0.39}]
chr11	GH11I124915	124915870	124917898	0.79	[{'connected_gene': 'GC11M124917', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 8.47}, {'connected_gene': 'ROBO4', 'score': 5.88}]
chr11	GH11I124844	124843185	124843334	0.46	[{'connected_gene': 'GC11M124844', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 12.05}, {'connected_gene': 'SIAE', 'score': 10.58}, {'connected_gene': 'SPA17', 'score': 10.57}, {'connected_gene': 'ENSG00000254943', 'score': 10.23}, {'connected_gene': 'NRGN', 'score': 10.21}, {'connected_gene': 'ROBO4', 'score': 10.04}, {'connected_gene': 'GC11M124812', 'score': 0.31}]
chr11	GH11I124843	124843508	124843627	0.43	[{'connected_gene': 'GC11M124844', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 12.05}, {'connected_gene': 'SIAE', 'score': 10.58}, {'connected_gene': 'SPA17', 'score': 10.57}, {'connected_gene': 'ENSG00000254943', 'score': 10.23}, {'connected_gene': 'NRGN', 'score': 10.21}, {'connected_gene': 'ROBO4', 'score': 10.05}, {'connected_gene': 'GC11M124812', 'score': 0.31}]
chr11	GH11I124891	124891665	124891714	0.51	[{'connected_gene': 'ENSG00000254943', 'score': 550.77}, {'connected_gene': 'GC11P124889', 'score': 550.77}, {'connected_gene': 'ROBO4', 'score': 0.44}]
chr11	GH11I124893	124893105	124893254	0.63	[{'connected_gene': 'ENSG00000254943', 'score': 550.77}, {'connected_gene': 'ROBO4', 'score': 0.44}]
chr11	GH11I125373	125372795	125377573	0.87	[{'connected_gene': 'GC11M125376', 'score': 550.77}, {'connected_gene': 'GC11M125373', 'score': 550.77}, {'connected_gene': 'LOC105369549', 'score': 10.46}, {'connected_gene': 'RNU6-321P', 'score': 10.32}, {'connected_gene': 'ROBO4', 'score': 9.22}, {'connected_gene': 'GC11M125369', 'score': 0.77}, {'connected_gene': 'PKNOX2', 'score': 0.08}]
chr11	GH11I125372	125372614	125372700	0.4	[{'connected_gene': 'GC11M125373', 'score': 550.77}, {'connected_gene': 'GC11M125370', 'score': 550.77}, {'connected_gene': 'GC11M125369', 'score': 550.77}, {'connected_gene': 'LOC105369549', 'score': 10.35}, {'connected_gene': 'RNU6-321P', 'score': 10.32}, {'connected_gene': 'ROBO4', 'score': 9.22}, {'connected_gene': 'PKNOX2', 'score': 0.08}]
chr11	GH11I125370	125370481	125372394	0.97	[{'connected_gene': 'GC11P125369', 'score': 550.77}, {'connected_gene': 'GC11M125369', 'score': 550.77}, {'connected_gene': 'GC11M125370', 'score': 550.77}, {'connected_gene': 'LOC105369549', 'score': 10.36}, {'connected_gene': 'RNU6-321P', 'score': 10.33}, {'connected_gene': 'PKNOX2-AS1', 'score': 10.14}, {'connected_gene': 'PKNOX2', 'score': 10.14}, {'connected_gene': 'ROBO4', 'score': 9.22}, {'connected_gene': 'DDX25', 'score': 4.44}]