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
ENST00000279101	[[60963687, 60966167], [60966304, 60966509], [60967444, 60967551], [60967975, 60968079], [60968495, 60968661], [60969212, 60969321], [60969992, 60970070], [60971370, 60971463], [60971576, 60971648], [60981970, 60982341]]	[[60966026, 60966167], [60966304, 60966509], [60967444, 60967551], [60967975, 60968079], [60968495, 60968661], [60969212, 60969321], [60969992, 60970070], [60971370, 60971463], [60971576, 60971648], [60981970, 60982332]]
ENST00000453274	[[60966069, 60966167], [60966304, 60966509], [60967444, 60967551], [60967975, 60968079], [60968495, 60968661], [60969992, 60970070], [60971370, 60971387]]	[[60966069, 60966167], [60966304, 60966509], [60967444, 60967551], [60967975, 60968079], [60968495, 60968661], [60969992, 60970070], [60971370, 60971387]]
NM_031215	[[60963685, 60966167], [60966304, 60966509], [60967444, 60967551], [60967975, 60968079], [60968495, 60968661], [60969212, 60969321], [60969992, 60970070], [60971370, 60971463], [60971576, 60971648], [60981970, 60982339]]	[[60966026, 60966167], [60966304, 60966509], [60967444, 60967551], [60967975, 60968079], [60968495, 60968661], [60969212, 60969321], [60969992, 60970070], [60971370, 60971463], [60971576, 60971648], [60981970, 60982332]]

Promoter

Chrom	Start	End	Description
chr20	60982330	60982375	CAGE_peak_1_at_CABLES2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I062236	62236314	62240328	2.45	[{'connected_gene': 'OSBPL2', 'score': 562.65}, {'connected_gene': 'TAF4', 'score': 27.26}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'DIDO1', 'score': 19.47}, {'connected_gene': 'MTG2', 'score': 10.52}, {'connected_gene': 'ADRM1', 'score': 10.23}, {'connected_gene': 'LAMA5-AS1', 'score': 7.86}, {'connected_gene': 'CABLES2', 'score': 2.46}, {'connected_gene': 'GATA5', 'score': 1.64}, {'connected_gene': 'GC20M062290', 'score': 0.23}]
chr20	GH20I062980	62980168	62981077	0.56	[{'connected_gene': 'CABLES2', 'score': 4.52}, {'connected_gene': 'GC20P062974', 'score': 0.44}, {'connected_gene': 'BHLHE23', 'score': 0.31}]
chr20	GH20I062409	62409251	62414841	1.38	[{'connected_gene': 'CABLES2', 'score': 18.43}, {'connected_gene': 'LOC105372710', 'score': 9.44}, {'connected_gene': 'RBBP8NL', 'score': 0.37}]
chr20	GH20I062401	62401305	62401454	0.43	[{'connected_gene': 'CABLES2', 'score': 9.95}, {'connected_gene': 'LOC105372709', 'score': 0.77}, {'connected_gene': 'GC20M062395', 'score': 0.39}, {'connected_gene': 'PIR58957', 'score': 0.39}]
chr20	GH20I062405	62405385	62408525	2.3	[{'connected_gene': 'CABLES2', 'score': 572.34}, {'connected_gene': 'LOC105372709', 'score': 550.77}]
chr20	GH20I062385	62385353	62389298	2.26	[{'connected_gene': 'RPS21', 'score': 582.48}, {'connected_gene': 'ENSG00000273619', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 74.25}, {'connected_gene': 'TAF4', 'score': 23.37}, {'connected_gene': 'CABLES2', 'score': 21.29}, {'connected_gene': 'ENSG00000226332', 'score': 18.84}, {'connected_gene': 'LAMA5', 'score': 12.13}, {'connected_gene': 'LSM14B', 'score': 11.74}, {'connected_gene': 'GID8', 'score': 9.79}, {'connected_gene': 'OSBPL2', 'score': 4.83}, {'connected_gene': 'GC20M062395', 'score': 0.77}, {'connected_gene': 'PIR58957', 'score': 0.77}]
chr20	GH20I062449	62449606	62451424	0.59	[{'connected_gene': 'MIR133A2', 'score': 11.44}, {'connected_gene': 'MIR1-1HG', 'score': 11.21}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 11.2}, {'connected_gene': 'MIR1-1', 'score': 11.2}, {'connected_gene': 'LOC105372710', 'score': 6.73}, {'connected_gene': 'CABLES2', 'score': 5.81}, {'connected_gene': 'GATA5', 'score': 0.31}]
chr20	GH20I062335	62335429	62337565	0.7	[{'connected_gene': 'LAMA5', 'score': 12.59}, {'connected_gene': 'CABLES2', 'score': 11.52}, {'connected_gene': 'ADRM1', 'score': 6.49}, {'connected_gene': 'LAMA5-AS1', 'score': 6.47}, {'connected_gene': 'MIR4758', 'score': 0.77}]
chr20	GH20I062382	62382403	62383454	1.38	[{'connected_gene': 'LAMA5', 'score': 15.38}, {'connected_gene': 'CABLES2', 'score': 5.91}, {'connected_gene': 'ENSG00000273619', 'score': 0.77}, {'connected_gene': 'LOC105372708', 'score': 0.77}]
chr20	GH20I062345	62345622	62346820	0.31	[{'connected_gene': 'LAMA5', 'score': 13.26}, {'connected_gene': 'CABLES2', 'score': 11.76}, {'connected_gene': 'LAMA5-AS1', 'score': 0.44}, {'connected_gene': 'MIR4758', 'score': 0.39}]
chr20	GH20I062275	62275998	62277874	0.38	[{'connected_gene': 'LAMA5', 'score': 12.05}, {'connected_gene': 'HRH3', 'score': 11.41}, {'connected_gene': 'MTG2', 'score': 11.0}, {'connected_gene': 'LAMA5-AS1', 'score': 8.13}, {'connected_gene': 'CABLES2', 'score': 4.69}, {'connected_gene': 'GC20M062290', 'score': 0.39}, {'connected_gene': 'OSBPL2', 'score': 0.25}]
chr20	GH20I062352	62352563	62371667	2.81	[{'connected_gene': 'LAMA5', 'score': 580.43}, {'connected_gene': 'LAMA5-AS1', 'score': 24.46}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'MTG2', 'score': 8.95}, {'connected_gene': 'CABLES2', 'score': 8.74}, {'connected_gene': 'OSBPL2', 'score': 8.56}, {'connected_gene': 'BHLHE23', 'score': 5.94}, {'connected_gene': 'MRGBP', 'score': 3.35}, {'connected_gene': 'ADRM1', 'score': 3.31}, {'connected_gene': 'RPS21', 'score': 2.12}, {'connected_gene': 'RBBP8NL', 'score': 1.96}, {'connected_gene': 'PSMA7', 'score': 1.85}, {'connected_gene': 'SLCO4A1', 'score': 1.82}, {'connected_gene': 'NTSR1', 'score': 1.47}, {'connected_gene': 'SS18L1', 'score': 1.19}, {'connected_gene': 'TAF4', 'score': 1.12}]
chr20	GH20I062282	62282527	62283850	0.66	[{'connected_gene': 'LAMA5', 'score': 11.74}, {'connected_gene': 'LAMA5-AS1', 'score': 7.9}, {'connected_gene': 'MTG2', 'score': 7.11}, {'connected_gene': 'CABLES2', 'score': 6.69}, {'connected_gene': 'GC20M062290', 'score': 0.44}, {'connected_gene': 'OSBPL2', 'score': 0.23}]
chr20	GH20I062181	62181759	62184792	2.3	[{'connected_gene': 'MTG2', 'score': 555.66}, {'connected_gene': 'DIDO1', 'score': 16.47}, {'connected_gene': 'RPS21', 'score': 13.32}, {'connected_gene': 'LAMA5', 'score': 11.87}, {'connected_gene': 'SS18L1', 'score': 5.72}, {'connected_gene': 'CABLES2', 'score': 1.49}, {'connected_gene': 'GATA5', 'score': 1.2}, {'connected_gene': 'PIR52239', 'score': 0.37}]
chr20	GH20I062423	62423749	62423808	0.73	[{'connected_gene': 'RBBP8NL', 'score': 550.77}, {'connected_gene': 'CABLES2', 'score': 0.37}]
chr20	GH20I062300	62300941	62306639	2.6	[{'connected_gene': 'ADRM1', 'score': 565.37}, {'connected_gene': 'DIDO1', 'score': 69.78}, {'connected_gene': 'TAF4', 'score': 59.93}, {'connected_gene': 'MRGBP', 'score': 29.86}, {'connected_gene': 'ENSG00000226332', 'score': 22.28}, {'connected_gene': 'RPS21', 'score': 12.37}, {'connected_gene': 'LAMA5', 'score': 10.96}, {'connected_gene': 'GID8', 'score': 10.43}, {'connected_gene': 'LAMA5-AS1', 'score': 10.4}, {'connected_gene': 'CABLES2', 'score': 7.15}, {'connected_gene': 'OSBPL2', 'score': 6.0}, {'connected_gene': 'GATA5', 'score': 1.53}, {'connected_gene': 'LOC105372707', 'score': 0.77}]
chr20	GH20I062425	62425828	62432193	1.8	[{'connected_gene': 'LOC105372710', 'score': 566.47}, {'connected_gene': 'RBBP8NL', 'score': 555.87}, {'connected_gene': 'CABLES2', 'score': 22.39}, {'connected_gene': 'DIDO1', 'score': 19.73}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'RPS21', 'score': 12.46}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'TAF4', 'score': 11.77}, {'connected_gene': 'LAMA5', 'score': 11.23}, {'connected_gene': 'MIR1-1', 'score': 11.0}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 11.0}, {'connected_gene': 'MIR1-1HG', 'score': 11.0}, {'connected_gene': 'ENSG00000226332', 'score': 9.98}, {'connected_gene': 'GATA5', 'score': 0.25}]
chr20	GH20I062349	62349493	62349771	0.54	[{'connected_gene': 'LAMA5-AS1', 'score': 9.19}, {'connected_gene': 'CABLES2', 'score': 8.53}, {'connected_gene': 'BHLHE23', 'score': 5.58}, {'connected_gene': 'LAMA5', 'score': 2.83}, {'connected_gene': 'RBBP8NL', 'score': 1.49}, {'connected_gene': 'SLCO4A1', 'score': 1.49}, {'connected_gene': 'SS18L1', 'score': 1.4}, {'connected_gene': 'TAF4', 'score': 1.28}, {'connected_gene': 'MIR4758', 'score': 0.37}]
chr20	GH20I061986	61986565	61986708	0.44	[{'connected_gene': 'CDH4', 'score': 6.66}, {'connected_gene': 'CABLES2', 'score': 3.27}, {'connected_gene': 'GATA5', 'score': 2.08}, {'connected_gene': 'GC20M061929', 'score': 0.77}, {'connected_gene': 'GC20P061972', 'score': 0.39}, {'connected_gene': 'TAF4', 'score': 0.18}]
chr20	GH20I061958	61958987	61959780	0.81	[{'connected_gene': 'CDH4', 'score': 6.95}, {'connected_gene': 'CABLES2', 'score': 1.93}, {'connected_gene': 'MIR1257', 'score': 0.44}, {'connected_gene': 'GC20P061972', 'score': 0.39}, {'connected_gene': 'GC20M061929', 'score': 0.31}, {'connected_gene': 'TAF4', 'score': 0.14}]
chr20	GH20I062322	62322605	62323243	0.38	[{'connected_gene': 'ENSG00000226332', 'score': 12.57}, {'connected_gene': 'CABLES2', 'score': 11.12}, {'connected_gene': 'LAMA5-AS1', 'score': 6.07}, {'connected_gene': 'ADRM1', 'score': 5.3}, {'connected_gene': 'MIR4758', 'score': 0.44}, {'connected_gene': 'LOC105372707', 'score': 0.39}, {'connected_gene': 'LAMA5', 'score': 0.26}]
chr20	GH20I062323	62323825	62324446	0.2	[{'connected_gene': 'ENSG00000226332', 'score': 12.54}, {'connected_gene': 'CABLES2', 'score': 5.3}, {'connected_gene': 'MIR4758', 'score': 0.44}, {'connected_gene': 'LOC105372707', 'score': 0.37}, {'connected_gene': 'LAMA5', 'score': 0.26}]