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
ENST00000273153	[[39183345, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188213], [39194928, 39195066]]	[[39184545, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188173]]
ENST00000514182	[[39183828, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188213], [39195987, 39196053]]	[[39184545, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188173]]
NM_033027	[[39183341, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188213], [39194928, 39195102]]	[[39184545, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188173]]
NM_001320560	[[39183341, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188213], [39195987, 39196093]]	[[39184545, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188173]]
NM_001320559	[[39183341, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188213], [39188616, 39188921]]	[[39184545, 39185535], [39185627, 39185942], [39186487, 39186747], [39187968, 39188213], [39188616, 39188636]]

Promoter

Chrom	Start	End	Description
chr3	39195037	39195069	CAGE_peak_2_at_CSRNP1_5end
chr3	39195075	39195088	CAGE_peak_1_at_CSRNP1_5end
chr3	39195139	39195150	CAGE_peak_3_at_CSRNP1_5end
chr3	39196049	39196062	CAGE_peak_5_at_CSRNP1_5end
chr3	39196096	39196107	CAGE_peak_6_at_CSRNP1_5end
chr3	39196117	39196139	CAGE_peak_4_at_CSRNP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I039266	39266578	39270003	1.36	[{'connected_gene': 'GORASP1', 'score': 16.48}, {'connected_gene': 'CSRNP1', 'score': 15.3}, {'connected_gene': 'XIRP1', 'score': 11.68}, {'connected_gene': 'CCR8', 'score': 10.81}, {'connected_gene': 'HNRNPA1P21', 'score': 10.8}, {'connected_gene': 'TTC21A', 'score': 10.7}, {'connected_gene': 'RPSA', 'score': 8.73}, {'connected_gene': 'WDR48', 'score': 2.46}, {'connected_gene': 'SLC25A38', 'score': 1.96}, {'connected_gene': 'CX3CR1', 'score': 1.54}, {'connected_gene': 'LOC102724104', 'score': 0.28}]
chr3	GH03I039174	39174735	39175444	0.54	[{'connected_gene': 'GORASP1', 'score': 15.97}, {'connected_gene': 'CSRNP1', 'score': 12.52}, {'connected_gene': 'CX3CR1', 'score': 11.72}, {'connected_gene': 'TTC21A', 'score': 11.54}, {'connected_gene': 'LOC105377035', 'score': 0.77}, {'connected_gene': 'ENSG00000214305', 'score': 0.39}]
chr3	GH03I039157	39157985	39158740	0.4	[{'connected_gene': 'GORASP1', 'score': 16.13}, {'connected_gene': 'TTC21A', 'score': 11.67}, {'connected_gene': 'XIRP1', 'score': 11.5}, {'connected_gene': 'CX3CR1', 'score': 10.59}, {'connected_gene': 'CSRNP1', 'score': 0.77}, {'connected_gene': 'ENSG00000214305', 'score': 0.77}, {'connected_gene': 'LOC101928263', 'score': 0.44}, {'connected_gene': 'ENSG00000284669', 'score': 0.39}]
chr3	GH03I039260	39260078	39264985	1.28	[{'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'XIRP1', 'score': 11.6}, {'connected_gene': 'TTC21A', 'score': 10.36}, {'connected_gene': 'GORASP1', 'score': 10.36}, {'connected_gene': 'RNU6-1227P', 'score': 9.17}, {'connected_gene': 'RPSA', 'score': 7.9}, {'connected_gene': 'CX3CR1', 'score': 5.39}, {'connected_gene': 'EXOG', 'score': 4.2}, {'connected_gene': 'LOC102724104', 'score': 0.29}]
chr3	GH03I039145	39145744	39156449	2.84	[{'connected_gene': 'CSRNP1', 'score': 562.05}, {'connected_gene': 'ENSG00000283849', 'score': 550.77}, {'connected_gene': 'LOC101928263', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 52.31}, {'connected_gene': 'TTC21A', 'score': 23.41}, {'connected_gene': 'SNORA62', 'score': 22.39}, {'connected_gene': 'CX3CR1', 'score': 22.21}, {'connected_gene': 'XIRP1', 'score': 11.47}, {'connected_gene': 'MOBP', 'score': 11.35}, {'connected_gene': 'ACVR2B-AS1', 'score': 9.87}, {'connected_gene': 'OXSR1', 'score': 9.69}, {'connected_gene': 'EXOG', 'score': 4.75}, {'connected_gene': 'WDR48', 'score': 1.88}, {'connected_gene': 'ENSG00000284669', 'score': 0.77}]
chr3	GH03I039638	39638304	39640776	1.38	[{'connected_gene': 'ZNF619', 'score': 10.89}, {'connected_gene': 'RPL14', 'score': 10.38}, {'connected_gene': 'CSRNP1', 'score': 6.02}, {'connected_gene': 'NFU1P1', 'score': 0.77}, {'connected_gene': 'MOBP', 'score': 0.09}]
chr3	GH03I039106	39106225	39108964	2	[{'connected_gene': 'TTC21A', 'score': 568.64}, {'connected_gene': 'GORASP1', 'score': 563.62}, {'connected_gene': 'CX3CR1', 'score': 21.66}, {'connected_gene': 'CSRNP1', 'score': 11.68}, {'connected_gene': 'MOBP', 'score': 11.34}, {'connected_gene': 'SCN11A', 'score': 4.29}, {'connected_gene': 'PIR55888', 'score': 0.44}, {'connected_gene': 'GC03M039097', 'score': 0.44}]
chr3	GH03I039144	39144677	39145521	0.2	[{'connected_gene': 'TTC21A', 'score': 5.7}, {'connected_gene': 'GORASP1', 'score': 5.35}, {'connected_gene': 'ENSG00000284669', 'score': 0.77}, {'connected_gene': 'MIR6822', 'score': 0.44}, {'connected_gene': 'CSRNP1', 'score': 0.44}]
chr3	GH03I039124	39124850	39128079	1.26	[{'connected_gene': 'TTC21A', 'score': 13.24}, {'connected_gene': 'CSRNP1', 'score': 12.97}, {'connected_gene': 'GORASP1', 'score': 12.7}, {'connected_gene': 'OXSR1', 'score': 12.63}, {'connected_gene': 'SNORA62', 'score': 11.32}, {'connected_gene': 'XIRP1', 'score': 10.18}, {'connected_gene': 'CX3CR1', 'score': 9.93}, {'connected_gene': 'MIR6822', 'score': 0.39}]
chr3	GH03I039129	39129525	39131198	0.38	[{'connected_gene': 'TTC21A', 'score': 24.97}, {'connected_gene': 'CSRNP1', 'score': 13.0}, {'connected_gene': 'GORASP1', 'score': 12.09}, {'connected_gene': 'CX3CR1', 'score': 11.17}, {'connected_gene': 'XIRP1', 'score': 10.99}, {'connected_gene': 'MIR6822', 'score': 0.44}]
chr3	GH03I039140	39140275	39143687	1.16	[{'connected_gene': 'TTC21A', 'score': 11.84}, {'connected_gene': 'MIR6822', 'score': 0.77}, {'connected_gene': 'ENSG00000284669', 'score': 0.44}, {'connected_gene': 'CSRNP1', 'score': 0.39}]
chr3	GH03I039271	39271026	39274400	1.06	[{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.75}, {'connected_gene': 'CCR8', 'score': 10.15}, {'connected_gene': 'HNRNPA1P21', 'score': 10.14}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'RPSA', 'score': 6.47}, {'connected_gene': 'CSRNP1', 'score': 5.41}, {'connected_gene': 'SCN10A', 'score': 1.51}, {'connected_gene': 'WDR48', 'score': 1.37}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3	GH03I039224	39224705	39225725	0.2	[{'connected_gene': 'XIRP1', 'score': 12.1}, {'connected_gene': 'CX3CR1', 'score': 11.86}, {'connected_gene': 'CSRNP1', 'score': 10.82}, {'connected_gene': 'CCR8', 'score': 10.5}, {'connected_gene': 'HNRNPA1P21', 'score': 10.49}, {'connected_gene': 'RPSA', 'score': 3.98}, {'connected_gene': 'LOC102724104', 'score': 0.44}, {'connected_gene': 'DSTNP4', 'score': 0.39}]
chr3	GH03I039222	39222550	39222699	0.4	[{'connected_gene': 'XIRP1', 'score': 12.1}, {'connected_gene': 'CX3CR1', 'score': 11.86}, {'connected_gene': 'CSRNP1', 'score': 10.83}, {'connected_gene': 'CCR8', 'score': 10.49}, {'connected_gene': 'HNRNPA1P21', 'score': 10.48}, {'connected_gene': 'LOC102724104', 'score': 0.44}, {'connected_gene': 'DSTNP4', 'score': 0.44}]
chr3	GH03I039258	39258514	39259589	0.2	[{'connected_gene': 'CX3CR1', 'score': 12.65}, {'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'RPSA', 'score': 5.02}, {'connected_gene': 'EXOG', 'score': 4.2}, {'connected_gene': 'LOC102724104', 'score': 0.31}]
chr3	GH03I039220	39220841	39221049	0.69	[{'connected_gene': 'CX3CR1', 'score': 16.22}, {'connected_gene': 'XIRP1', 'score': 12.11}, {'connected_gene': 'CSRNP1', 'score': 10.83}, {'connected_gene': 'CCR8', 'score': 10.49}, {'connected_gene': 'HNRNPA1P21', 'score': 10.48}, {'connected_gene': 'MOBP', 'score': 3.74}, {'connected_gene': 'DSTNP4', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.39}]
chr3	GH03I039240	39240536	39244577	0.38	[{'connected_gene': 'CX3CR1', 'score': 12.18}, {'connected_gene': 'XIRP1', 'score': 11.92}, {'connected_gene': 'CSRNP1', 'score': 11.03}, {'connected_gene': 'CCR8', 'score': 10.58}, {'connected_gene': 'HNRNPA1P21', 'score': 10.57}, {'connected_gene': 'RPSA', 'score': 7.24}, {'connected_gene': 'GORASP1', 'score': 5.41}, {'connected_gene': 'LOC102724104', 'score': 0.39}]
chr3	GH03I039255	39255111	39257506	1.14	[{'connected_gene': 'CX3CR1', 'score': 12.62}, {'connected_gene': 'XIRP1', 'score': 12.23}, {'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'LOC102724104', 'score': 0.34}]
chr3	GH03I039326	39326909	39328548	0.92	[{'connected_gene': 'CCR8', 'score': 556.81}, {'connected_gene': 'RPSA', 'score': 10.42}, {'connected_gene': 'HNRNPA1P21', 'score': 5.66}, {'connected_gene': 'CSRNP1', 'score': 4.49}, {'connected_gene': 'SLC25A38', 'score': 3.57}, {'connected_gene': 'WDR48', 'score': 1.96}, {'connected_gene': 'ADAD1P1', 'score': 0.26}]
chr3	GH03I039175	39175721	39184371	1.43	[{'connected_gene': 'PIR56273', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 16.23}, {'connected_gene': 'CSRNP1', 'score': 12.49}, {'connected_gene': 'CX3CR1', 'score': 11.72}, {'connected_gene': 'TTC21A', 'score': 11.53}, {'connected_gene': 'RPSA', 'score': 8.04}, {'connected_gene': 'LOC105377035', 'score': 0.77}, {'connected_gene': 'XIRP1', 'score': 0.39}]