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
ENST00000418163	[[9834765, 9834808], [9839342, 9839461], [9845526, 9845697], [9852304, 9852393], [9854626, 9854755]]	[[9834805, 9834808], [9839342, 9839461], [9845526, 9845548]]
ENST00000424442	[[9834765, 9834808], [9839342, 9839461], [9841868, 9841980], [9843344, 9843440], [9845526, 9845697], [9852304, 9852393], [9854626, 9854795], [9854931, 9855035]]	[[9834805, 9834808], [9839342, 9839461], [9841868, 9841980], [9843344, 9843440], [9845526, 9845697], [9852304, 9852349]]
ENST00000397256	[[9834797, 9834808], [9839342, 9839461], [9841868, 9841980], [9843344, 9843440], [9854626, 9854795], [9854931, 9855029], [9859328, 9859443], [9862229, 9862425], [9867483, 9867632], [9868680, 9868924], [9870643, 9871079], [9876364, 9877085]]	[[9834805, 9834808], [9839342, 9839461], [9841868, 9841980], [9843344, 9843440], [9854626, 9854795], [9854931, 9855029], [9859328, 9859443], [9862229, 9862425], [9867483, 9867632], [9868680, 9868924], [9870643, 9871079], [9876364, 9876505]]
ENST00000453882	[[9839341, 9839461], [9841868, 9841980], [9845526, 9845697], [9854626, 9854722]]	[[9839341, 9839461], [9841868, 9841980], [9845526, 9845697], [9854626, 9854722]]
NM_001198793	[[9834231, 9834808], [9839342, 9839461], [9841868, 9841980], [9843344, 9843440], [9854626, 9854795], [9854931, 9855029], [9859328, 9859443], [9862229, 9862425], [9867483, 9867632], [9868680, 9868924], [9870643, 9871079], [9876364, 9878040]]	[[9834805, 9834808], [9839342, 9839461], [9841868, 9841980], [9843344, 9843440], [9854626, 9854795], [9854931, 9855029], [9859328, 9859443], [9862229, 9862425], [9867483, 9867632], [9868680, 9868924], [9870643, 9871079], [9876364, 9876505]]

Promoter

Chrom	Start	End	Description
chr3	9834229	9834260	CAGE_peak_1_at_ARPC4-TTLL3_5end,CAGE_peak_2_at_ARPC4_5end
chr3	9839335	9839364	CAGE_peak_2_at_ARPC4-TTLL3_5end,CAGE_peak_4_at_TTLL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I010247	10247728	10250724	2.26	[{'connected_gene': 'TATDN2', 'score': 550.77}, {'connected_gene': 'PIR57492', 'score': 550.77}, {'connected_gene': 'PIR45247', 'score': 550.77}, {'connected_gene': 'PIR49172', 'score': 550.77}, {'connected_gene': 'PIR36484', 'score': 550.77}, {'connected_gene': 'ENSG00000272410', 'score': 550.77}, {'connected_gene': 'PIR32642', 'score': 550.77}, {'connected_gene': 'GHRLOS', 'score': 21.04}, {'connected_gene': 'GHRL', 'score': 11.88}, {'connected_gene': 'IRAK2', 'score': 11.83}, {'connected_gene': 'FANCD2OS', 'score': 11.58}, {'connected_gene': 'VHL', 'score': 11.5}, {'connected_gene': 'SEC13', 'score': 10.7}, {'connected_gene': 'IL17RE', 'score': 10.17}, {'connected_gene': 'JAGN1', 'score': 10.15}, {'connected_gene': 'TADA3', 'score': 9.97}, {'connected_gene': 'ARPC4', 'score': 9.97}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.97}, {'connected_gene': 'PRRT3', 'score': 9.84}, {'connected_gene': 'RPUSD3', 'score': 9.72}]
chr3	GH03I009861	9861190	9866062	1.62	[{'connected_gene': 'IL17RC', 'score': 37.28}, {'connected_gene': 'JAGN1', 'score': 33.62}, {'connected_gene': 'CIDEC', 'score': 25.99}, {'connected_gene': 'TADA3', 'score': 14.1}, {'connected_gene': 'IL17RE', 'score': 13.67}, {'connected_gene': 'FANCD2', 'score': 13.55}, {'connected_gene': 'ARPC4', 'score': 12.18}, {'connected_gene': 'RNU6-882P', 'score': 11.98}, {'connected_gene': 'THUMPD3', 'score': 11.85}, {'connected_gene': 'TTLL3', 'score': 11.12}, {'connected_gene': 'BRPF1', 'score': 11.06}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.72}, {'connected_gene': 'CAMK1', 'score': 10.51}, {'connected_gene': 'CPNE9', 'score': 10.32}, {'connected_gene': 'FANCD2OS', 'score': 10.28}, {'connected_gene': 'CRELD1', 'score': 6.65}, {'connected_gene': 'RPUSD3', 'score': 1.77}, {'connected_gene': 'OGG1', 'score': 1.31}, {'connected_gene': 'MARK2P1', 'score': 0.44}, {'connected_gene': 'GC03M009835', 'score': 0.23}]
chr3	GH03I009870	9870602	9871728	0.87	[{'connected_gene': 'JAGN1', 'score': 16.51}, {'connected_gene': 'IL17RE', 'score': 12.79}, {'connected_gene': 'RPUSD3', 'score': 12.16}, {'connected_gene': 'IL17RC', 'score': 12.07}, {'connected_gene': 'RNU6-882P', 'score': 12.07}, {'connected_gene': 'TTLL3', 'score': 10.92}, {'connected_gene': 'FANCD2', 'score': 10.91}, {'connected_gene': 'ARPC4', 'score': 10.44}, {'connected_gene': 'TADA3', 'score': 10.44}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.44}, {'connected_gene': 'BRPF1', 'score': 10.14}, {'connected_gene': 'PRRT3', 'score': 10.04}, {'connected_gene': 'CRELD1', 'score': 6.41}, {'connected_gene': 'CIDEC', 'score': 0.44}, {'connected_gene': 'MARK2P1', 'score': 0.37}, {'connected_gene': 'GC03M009835', 'score': 0.25}]
chr3	GH03I009670	9670237	9670366	0.57	[{'connected_gene': 'MTMR14', 'score': 12.03}, {'connected_gene': 'ARPC4', 'score': 10.09}, {'connected_gene': 'TADA3', 'score': 10.09}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.09}, {'connected_gene': 'CPNE9', 'score': 0.29}, {'connected_gene': 'GC03M009670', 'score': 0.26}]
chr3	GH03I009969	9969155	9971726	0.69	[{'connected_gene': 'BRK1', 'score': 15.74}, {'connected_gene': 'FANCD2OS', 'score': 15.04}, {'connected_gene': 'IL17RC', 'score': 11.15}, {'connected_gene': 'RNU6-882P', 'score': 11.15}, {'connected_gene': 'IL17RE', 'score': 11.12}, {'connected_gene': 'CIDECP', 'score': 10.75}, {'connected_gene': 'FANCD2', 'score': 10.75}, {'connected_gene': 'VHL', 'score': 10.58}, {'connected_gene': 'RPUSD3', 'score': 10.54}, {'connected_gene': 'JAGN1', 'score': 10.42}, {'connected_gene': 'RNU6-670P', 'score': 10.4}, {'connected_gene': 'TTLL3', 'score': 10.03}, {'connected_gene': 'IRAK2', 'score': 9.97}, {'connected_gene': 'TADA3', 'score': 9.68}, {'connected_gene': 'ARPC4', 'score': 9.68}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.68}, {'connected_gene': 'PIR52243', 'score': 0.44}, {'connected_gene': 'PIR57234', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.26}]
chr3	GH03I009807	9807688	9811285	1.83	[{'connected_gene': 'TTLL3', 'score': 572.4}, {'connected_gene': 'EMC3-AS1', 'score': 11.02}, {'connected_gene': 'BRPF1', 'score': 10.61}, {'connected_gene': 'TADA3', 'score': 10.55}, {'connected_gene': 'SETD5', 'score': 10.08}, {'connected_gene': 'ENSG00000269886', 'score': 0.77}, {'connected_gene': 'ARPC4', 'score': 0.37}, {'connected_gene': 'ARPC4-TTLL3', 'score': 0.37}]
chr3	GH03I009805	9805899	9806206	0.2	[{'connected_gene': 'TTLL3', 'score': 9.62}, {'connected_gene': 'ARPC4', 'score': 0.39}, {'connected_gene': 'TADA3', 'score': 0.39}, {'connected_gene': 'ARPC4-TTLL3', 'score': 0.39}]
chr3	GH03I009808	9807220	9807582	0.43	[{'connected_gene': 'TTLL3', 'score': 550.77}, {'connected_gene': 'ARPC4', 'score': 0.39}, {'connected_gene': 'TADA3', 'score': 0.39}, {'connected_gene': 'ARPC4-TTLL3', 'score': 0.39}]
chr3	GH03I009339	9339658	9341422	0.85	[{'connected_gene': 'SRGAP3', 'score': 23.15}, {'connected_gene': 'THUMPD3', 'score': 12.48}, {'connected_gene': 'ENSG00000254485', 'score': 12.48}, {'connected_gene': 'RAD18', 'score': 10.09}, {'connected_gene': 'MTMR14', 'score': 9.73}, {'connected_gene': 'ENSG00000199815', 'score': 9.6}, {'connected_gene': 'ARPC4', 'score': 8.91}, {'connected_gene': 'TADA3', 'score': 8.91}, {'connected_gene': 'ARPC4-TTLL3', 'score': 8.91}, {'connected_gene': 'THUMPD3-AS1', 'score': 5.84}, {'connected_gene': 'PGAM1P4', 'score': 0.44}, {'connected_gene': 'GC03M009298', 'score': 0.28}]
chr3	GH03I009680	9680987	9682619	0.49	[{'connected_gene': 'CPNE9', 'score': 12.14}, {'connected_gene': 'MTMR14', 'score': 11.47}, {'connected_gene': 'BRPF1', 'score': 10.96}, {'connected_gene': 'ARPC4', 'score': 10.07}, {'connected_gene': 'TADA3', 'score': 10.07}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.07}, {'connected_gene': 'GC03M009670', 'score': 0.29}]
chr3	GH03I009896	9896101	9904314	1.96	[{'connected_gene': 'IL17RE', 'score': 557.0}, {'connected_gene': 'GC03P009922', 'score': 550.77}, {'connected_gene': 'GC03P009923', 'score': 550.77}, {'connected_gene': 'IL17RC', 'score': 26.19}, {'connected_gene': 'JAGN1', 'score': 19.2}, {'connected_gene': 'FANCD2', 'score': 13.58}, {'connected_gene': 'CRELD1', 'score': 12.07}, {'connected_gene': 'PRRT3-AS1', 'score': 12.03}, {'connected_gene': 'RPUSD3', 'score': 11.25}, {'connected_gene': 'PRRT3', 'score': 11.1}, {'connected_gene': 'BRPF1', 'score': 11.05}, {'connected_gene': 'TTLL3', 'score': 10.45}, {'connected_gene': 'TADA3', 'score': 10.32}, {'connected_gene': 'ARPC4', 'score': 10.32}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.32}, {'connected_gene': 'GC03M009835', 'score': 0.37}]
chr3	GH03I010085	10085877	10086026	0.52	[{'connected_gene': 'FANCD2OS', 'score': 12.74}, {'connected_gene': 'VHL', 'score': 11.09}, {'connected_gene': 'RNU6-670P', 'score': 10.96}, {'connected_gene': 'FANCD2', 'score': 10.93}, {'connected_gene': 'IRAK2', 'score': 10.85}, {'connected_gene': 'PRRT3', 'score': 10.05}, {'connected_gene': 'IL17RE', 'score': 9.84}, {'connected_gene': 'JAGN1', 'score': 9.84}, {'connected_gene': 'ARPC4', 'score': 9.47}, {'connected_gene': 'TADA3', 'score': 9.47}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.47}, {'connected_gene': 'GC03M010064', 'score': 0.44}]
chr3	GH03I009804	9804508	9805820	0.38	[{'connected_gene': 'TADA3', 'score': 10.53}, {'connected_gene': 'TTLL3', 'score': 0.77}, {'connected_gene': 'ARPC4', 'score': 0.39}, {'connected_gene': 'ARPC4-TTLL3', 'score': 0.39}]
chr3	GH03I009791	9791198	9796007	2.08	[{'connected_gene': 'TADA3', 'score': 563.05}, {'connected_gene': 'ARPC4', 'score': 550.77}, {'connected_gene': 'ARPC4-TTLL3', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 46.31}, {'connected_gene': 'RAD18', 'score': 38.0}, {'connected_gene': 'SETD5', 'score': 37.02}, {'connected_gene': 'TTLL3', 'score': 19.95}, {'connected_gene': 'JAGN1', 'score': 13.82}, {'connected_gene': 'BRK1', 'score': 11.05}, {'connected_gene': 'SEC13', 'score': 10.46}, {'connected_gene': 'GHRLOS', 'score': 10.19}, {'connected_gene': 'RPUSD3', 'score': 5.32}, {'connected_gene': 'CRELD1', 'score': 4.49}]
chr3	GH03I010251	10251057	10251206	0.66	[{'connected_gene': 'PIR57492', 'score': 550.77}, {'connected_gene': 'PIR45247', 'score': 550.77}, {'connected_gene': 'PIR49172', 'score': 550.77}, {'connected_gene': 'PIR36484', 'score': 550.77}, {'connected_gene': 'ENSG00000272410', 'score': 550.77}, {'connected_gene': 'GHRL', 'score': 11.73}, {'connected_gene': 'VHL', 'score': 11.5}, {'connected_gene': 'IRAK2', 'score': 11.02}, {'connected_gene': 'SEC13', 'score': 10.7}, {'connected_gene': 'FANCD2OS', 'score': 10.49}, {'connected_gene': 'IL17RE', 'score': 10.17}, {'connected_gene': 'PRRT3', 'score': 9.84}, {'connected_gene': 'TADA3', 'score': 9.56}, {'connected_gene': 'ARPC4', 'score': 9.56}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.56}, {'connected_gene': 'RPUSD3', 'score': 9.5}, {'connected_gene': 'TATDN2', 'score': 0.77}, {'connected_gene': 'PIR34834', 'score': 0.44}, {'connected_gene': 'GC03P010609', 'score': 0.44}]
chr3	GH03I010201	10201193	10207849	1.63	[{'connected_gene': 'GC03M010202', 'score': 550.77}, {'connected_gene': 'IRAK2', 'score': 24.19}, {'connected_gene': 'TATDN2', 'score': 15.85}, {'connected_gene': 'VHL', 'score': 15.48}, {'connected_gene': 'GHRLOS', 'score': 15.31}, {'connected_gene': 'ARPC4', 'score': 14.0}, {'connected_gene': 'FANCD2OS', 'score': 11.28}, {'connected_gene': 'GHRL', 'score': 10.65}, {'connected_gene': 'SEC13', 'score': 9.83}, {'connected_gene': 'CAMK1', 'score': 9.61}, {'connected_gene': 'TADA3', 'score': 9.28}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.28}, {'connected_gene': 'LINC00852', 'score': 4.91}]
chr3	GH03I009975	9975795	9980631	1.47	[{'connected_gene': 'PIR57234', 'score': 550.77}, {'connected_gene': 'FANCD2', 'score': 22.17}, {'connected_gene': 'TTLL3', 'score': 21.73}, {'connected_gene': 'BRPF1', 'score': 19.79}, {'connected_gene': 'THUMPD3-AS1', 'score': 19.48}, {'connected_gene': 'BRK1', 'score': 16.36}, {'connected_gene': 'SETD5', 'score': 15.45}, {'connected_gene': 'PRRT3', 'score': 11.75}, {'connected_gene': 'CIDECP', 'score': 11.48}, {'connected_gene': 'ENSG00000269894', 'score': 11.31}, {'connected_gene': 'IL17RE', 'score': 11.1}, {'connected_gene': 'RPUSD3', 'score': 10.94}, {'connected_gene': 'VHL', 'score': 10.83}, {'connected_gene': 'JAGN1', 'score': 10.55}, {'connected_gene': 'LINC00852', 'score': 10.24}, {'connected_gene': 'TADA3', 'score': 10.12}, {'connected_gene': 'ARPC4', 'score': 10.12}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.12}, {'connected_gene': 'GHRL', 'score': 10.11}, {'connected_gene': 'IRAK2', 'score': 9.9}, {'connected_gene': 'EMC3-AS1', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.29}]