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
ENST00000304786	[[225965530, 225965714], [225971001, 225971070], [225976941, 225978168]]	[[225965642, 225965714], [225971001, 225971070], [225976941, 225977061]]
ENST00000366839	[[225965538, 225965714], [225971001, 225971070], [225974563, 225974687], [225976941, 225978168]]	[[225965642, 225965714], [225971001, 225971070], [225974563, 225974671]]
ENST00000366838	[[225965636, 225965714], [225971001, 225971070], [225976735, 225976843], [225976941, 225977226]]	[[225965642, 225965714], [225971001, 225971070], [225976735, 225976795]]
NM_003133	[[225965514, 225965714], [225971001, 225971070], [225976941, 225978168]]	[[225965642, 225965714], [225971001, 225971070], [225976941, 225977061]]
NM_001130440	[[225965514, 225965714], [225971001, 225971070], [225974563, 225974687], [225976941, 225978168]]	[[225965642, 225965714], [225971001, 225971070], [225974563, 225974671]]

Promoter

Chrom	Start	End	Description
chr1	225965518	225965553	CAGE_peak_1_at_SRP9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I225776	225776129	225780367	2.12	[{'connected_gene': 'SRP9', 'score': 550.77}, {'connected_gene': 'ACBD3', 'score': 51.82}, {'connected_gene': 'ACBD3-AS1', 'score': 48.48}, {'connected_gene': 'LINC01703', 'score': 11.56}, {'connected_gene': 'LOC105373110', 'score': 10.74}, {'connected_gene': 'H3F3A', 'score': 10.69}, {'connected_gene': 'LEFTY1', 'score': 10.62}, {'connected_gene': 'LEFTY3', 'score': 7.44}, {'connected_gene': 'EPHX1', 'score': 5.68}]
chr1	GH01I225770	225770519	225775191	1.41	[{'connected_gene': 'ACBD3', 'score': 20.77}, {'connected_gene': 'LEFTY1', 'score': 10.94}, {'connected_gene': 'ACBD3-AS1', 'score': 10.37}, {'connected_gene': 'ENAH', 'score': 6.7}, {'connected_gene': 'SRP9', 'score': 0.77}, {'connected_gene': 'RNU6-1304P', 'score': 0.29}]
chr1	GH01I225745	225745967	225747745	1.5	[{'connected_gene': 'ENAH', 'score': 7.67}, {'connected_gene': 'RNU6-1304P', 'score': 0.44}, {'connected_gene': 'SRP9', 'score': 0.29}, {'connected_gene': 'LOC102723834', 'score': 0.25}]
chr1	GH01I225754	225754499	225756594	1.29	[{'connected_gene': 'ENAH', 'score': 5.13}, {'connected_gene': 'RNU6-1304P', 'score': 0.39}, {'connected_gene': 'SRP9', 'score': 0.34}]
chr1	GH01I226247	226247429	226247631	0.3	[{'connected_gene': 'LIN9', 'score': 6.47}, {'connected_gene': 'PARP1', 'score': 5.6}, {'connected_gene': 'PYCR2', 'score': 3.57}, {'connected_gene': 'SRP9', 'score': 2.88}, {'connected_gene': 'H3F3A', 'score': 1.33}, {'connected_gene': 'GC01P226243', 'score': 0.77}, {'connected_gene': 'GC01P226285', 'score': 0.28}]
chr1	GH01I225822	225822719	225828026	2.11	[{'connected_gene': 'EPHX1', 'score': 590.62}, {'connected_gene': 'TMEM63A', 'score': 11.74}, {'connected_gene': 'LEFTY1', 'score': 11.43}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.15}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY3', 'score': 6.53}, {'connected_gene': 'SRP9', 'score': 5.67}, {'connected_gene': 'GC01P225813', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1	GH01I225809	225809499	225815179	2.46	[{'connected_gene': 'EPHX1', 'score': 555.68}, {'connected_gene': 'GC01P225813', 'score': 550.77}, {'connected_gene': 'ENSG00000255835', 'score': 11.67}, {'connected_gene': 'PYCR2', 'score': 11.67}, {'connected_gene': 'ENSG00000248322', 'score': 11.66}, {'connected_gene': 'LEFTY2', 'score': 11.66}, {'connected_gene': 'LEFTY3', 'score': 7.27}, {'connected_gene': 'SRP9', 'score': 5.45}, {'connected_gene': 'ITPKB', 'score': 4.1}, {'connected_gene': 'GC01P225812', 'score': 0.77}, {'connected_gene': 'GC01P225811', 'score': 0.77}, {'connected_gene': 'ENSG00000242861', 'score': 0.29}]
chr1	GH01I225761	225761737	225764748	1.21	[{'connected_gene': 'RNU6-1304P', 'score': 13.79}, {'connected_gene': 'ENSG00000255835', 'score': 10.53}, {'connected_gene': 'PYCR2', 'score': 10.53}, {'connected_gene': 'LEFTY2', 'score': 10.53}, {'connected_gene': 'ENSG00000248322', 'score': 10.53}, {'connected_gene': 'ENAH', 'score': 5.68}, {'connected_gene': 'SRP9', 'score': 0.39}]
chr1	GH01I225766	225766369	225770027	1.78	[{'connected_gene': 'ENSG00000255835', 'score': 10.54}, {'connected_gene': 'PYCR2', 'score': 10.54}, {'connected_gene': 'ENSG00000248322', 'score': 10.54}, {'connected_gene': 'LEFTY2', 'score': 10.53}, {'connected_gene': 'LEFTY1', 'score': 10.45}, {'connected_gene': 'LBR', 'score': 10.19}, {'connected_gene': 'ENAH', 'score': 7.85}, {'connected_gene': 'SRP9', 'score': 0.44}, {'connected_gene': 'RNU6-1304P', 'score': 0.31}]