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
ENST00000439430	[[236511561, 236511584], [236512024, 236512266], [236514003, 236514139], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236645619]]	[[236572520, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236645619]]
ENST00000334232	[[236557577, 236557805], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236645992]]	[[236557744, 236557805], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236645949]]
ENST00000359362	[[236558715, 236558960], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236648214]]	[[236558929, 236558960], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236645949]]
NM_145861	[[236557679, 236557805], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236648008]]	[[236557744, 236557805], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236645949]]
NM_080738	[[236558715, 236558960], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236648008]]	[[236558929, 236558960], [236572515, 236572574], [236577559, 236577599], [236590691, 236590750], [236631530, 236631576], [236645566, 236645949]]

Promoter

Chrom	Start	End	Description
chr1	236557569	236557578	CAGE_peak_11_at_EDARADD_5end
chr1	236557580	236557591	CAGE_peak_4_at_EDARADD_5end
chr1	236557600	236557605	CAGE_peak_18_at_EDARADD_5end
chr1	236557613	236557620	CAGE_peak_10_at_EDARADD_5end
chr1	236557623	236557670	CAGE_peak_1_at_EDARADD_5end
chr1	236557671	236557676	CAGE_peak_16_at_EDARADD_5end
chr1	236557680	236557688	CAGE_peak_12_at_EDARADD_5end
chr1	236558370	236558376	CAGE_peak_8_at_EDARADD_5end
chr1	236558483	236558500	CAGE_peak_6_at_EDARADD_5end
chr1	236558694	236558749	CAGE_peak_2_at_EDARADD_5end
chr1	236558771	236558814	CAGE_peak_3_at_EDARADD_5end
chr1	236558836	236558851	CAGE_peak_13_at_EDARADD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I236450	236450881	236451030	0.31	[{'connected_gene': 'ERO1B', 'score': 10.72}, {'connected_gene': 'LGALS8', 'score': 9.98}, {'connected_gene': 'LGALS8-AS1', 'score': 9.79}, {'connected_gene': 'GC01P236477', 'score': 0.31}, {'connected_gene': 'EDARADD', 'score': 0.15}]
chr1	GH01I236333	236333321	236333470	0.64	[{'connected_gene': 'ERO1B', 'score': 8.82}, {'connected_gene': 'EDARADD', 'score': 0.39}, {'connected_gene': 'LOC100130485', 'score': 0.25}]
chr1	GH01I236302	236302001	236302150	0.59	[{'connected_gene': 'ERO1B', 'score': 7.23}, {'connected_gene': 'LOC100130485', 'score': 0.37}, {'connected_gene': 'EDARADD', 'score': 0.25}]
chr1	GH01I236470	236470811	236472535	0.9	[{'connected_gene': 'LGALS8', 'score': 11.38}, {'connected_gene': 'LGALS8-AS1', 'score': 11.0}, {'connected_gene': 'ENSG00000273058', 'score': 10.89}, {'connected_gene': 'ENSG00000230325', 'score': 10.37}, {'connected_gene': 'GPR137B', 'score': 10.25}, {'connected_gene': 'ERO1B', 'score': 10.24}, {'connected_gene': 'GC01P236477', 'score': 0.44}, {'connected_gene': 'EDARADD', 'score': 0.13}]
chr1	GH01I236479	236479825	236481615	0.69	[{'connected_gene': 'LGALS8', 'score': 11.09}, {'connected_gene': 'LGALS8-AS1', 'score': 11.08}, {'connected_gene': 'GC01P236477', 'score': 0.77}, {'connected_gene': 'ENO1P1', 'score': 0.77}, {'connected_gene': 'EDARADD', 'score': 0.12}]
chr1	GH01I236465	236465569	236466807	0.89	[{'connected_gene': 'LGALS8', 'score': 10.64}, {'connected_gene': 'LGALS8-AS1', 'score': 10.63}, {'connected_gene': 'GC01P236477', 'score': 0.39}, {'connected_gene': 'EDARADD', 'score': 0.13}]
chr1	GH01I236482	236482418	236483953	0.31	[{'connected_gene': 'ENO1P1', 'score': 550.77}, {'connected_gene': 'LGALS8', 'score': 11.11}, {'connected_gene': 'LGALS8-AS1', 'score': 11.08}, {'connected_gene': 'GC01P236501', 'score': 0.37}, {'connected_gene': 'EDARADD', 'score': 0.12}]
chr1	GH01I236393	236393540	236396710	2.24	[{'connected_gene': 'EDARADD', 'score': 564.77}, {'connected_gene': 'ENSG00000273058', 'score': 22.3}, {'connected_gene': 'ENSG00000230325', 'score': 16.65}, {'connected_gene': 'HEATR1', 'score': 15.8}, {'connected_gene': 'RPS21P1', 'score': 14.92}, {'connected_gene': 'MTR', 'score': 13.34}, {'connected_gene': 'LGALS8', 'score': 2.52}, {'connected_gene': 'GC01P236477', 'score': 0.18}]
chr1	GH01I236349	236349641	236349790	0.98	[{'connected_gene': 'EDARADD', 'score': 555.49}, {'connected_gene': 'HEATR1', 'score': 14.27}, {'connected_gene': 'ENSG00000273058', 'score': 14.06}, {'connected_gene': 'ENSG00000230325', 'score': 14.04}, {'connected_gene': 'RPS21P1', 'score': 12.38}, {'connected_gene': 'GC01P236477', 'score': 0.13}]
chr1	GH01I236415	236415142	236417862	0.88	[{'connected_gene': 'EDARADD', 'score': 27.07}, {'connected_gene': 'LGALS8', 'score': 12.99}, {'connected_gene': 'LGALS8-AS1', 'score': 10.28}, {'connected_gene': 'GPR137B', 'score': 9.81}, {'connected_gene': 'MTR', 'score': 6.31}, {'connected_gene': 'GC01P236477', 'score': 0.21}]
chr1	GH01I236425	236425421	236425550	0.67	[{'connected_gene': 'EDARADD', 'score': 20.01}, {'connected_gene': 'GC01P236477', 'score': 0.23}]
chr1	GH01I236398	236398605	236400435	0.92	[{'connected_gene': 'EDARADD', 'score': 16.33}, {'connected_gene': 'GC01P236477', 'score': 0.18}]
chr1	GH01I236421	236421101	236421250	0.86	[{'connected_gene': 'EDARADD', 'score': 16.36}, {'connected_gene': 'GC01P236477', 'score': 0.22}]
chr1	GH01I235916	235916151	235924799	1.75	[{'connected_gene': 'LYST', 'score': 25.51}, {'connected_gene': 'ARID4B', 'score': 13.99}, {'connected_gene': 'RNU5E-2P', 'score': 11.36}, {'connected_gene': 'TBCE', 'score': 9.8}, {'connected_gene': 'ENSG00000229291', 'score': 5.07}, {'connected_gene': 'TOMM20', 'score': 5.01}, {'connected_gene': 'GPR137B', 'score': 2.88}, {'connected_gene': 'EDARADD', 'score': 2.65}, {'connected_gene': 'RNU6-968P', 'score': 0.44}, {'connected_gene': 'ENSG00000237845', 'score': 0.34}, {'connected_gene': 'LOC105373215', 'score': 0.31}, {'connected_gene': 'LOC105373212', 'score': 0.23}]
chr1	GH01I236290	236290162	236290177	0.23	[{'connected_gene': 'LOC100130485', 'score': 0.77}, {'connected_gene': 'EDARADD', 'score': 0.22}]
chr1	GH01I236291	236289881	236290010	0.2	[{'connected_gene': 'LOC100130485', 'score': 0.77}, {'connected_gene': 'EDARADD', 'score': 0.22}]
chr1	GH01I236289	236289601	236289750	0.54	[{'connected_gene': 'LOC100130485', 'score': 0.77}, {'connected_gene': 'EDARADD', 'score': 0.22}]
chr1	GH01I236288	236288068	236289071	0.78	[{'connected_gene': 'LOC100130485', 'score': 550.77}, {'connected_gene': 'LDHAP2', 'score': 10.94}, {'connected_gene': 'GPR137B', 'score': 10.42}, {'connected_gene': 'HEATR1', 'score': 10.39}, {'connected_gene': 'ARID4B', 'score': 10.24}, {'connected_gene': 'LYST', 'score': 10.01}, {'connected_gene': 'ENSG00000230325', 'score': 9.79}, {'connected_gene': 'ERO1B', 'score': 6.97}, {'connected_gene': 'EDARADD', 'score': 0.22}]
chr1	GH01I236535	236535606	236535867	0.78	[{'connected_gene': 'PIR37549', 'score': 550.77}, {'connected_gene': 'ENSG00000273058', 'score': 550.77}, {'connected_gene': 'ENSG00000230325', 'score': 21.91}, {'connected_gene': 'EDARADD', 'score': 2.87}, {'connected_gene': 'MTR', 'score': 1.43}, {'connected_gene': 'LGALS8-AS1', 'score': 0.39}, {'connected_gene': 'LGALS8', 'score': 0.37}]