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
ENST00000215368	[[1286152, 1286307], [1295543, 1295857], [1298549, 1298615], [1299822, 1301430]]	[[1286167, 1286307], [1295543, 1295857], [1298549, 1298615], [1299822, 1299944]]
NM_001405	[[1286152, 1286307], [1295543, 1295857], [1298549, 1298615], [1299822, 1301430]]	[[1286167, 1286307], [1295543, 1295857], [1298549, 1298615], [1299822, 1299944]]

Promoter

Chrom	Start	End	Description
chr19	1285977	1285989	CAGE_peak_3_at_EFNA2_5end
chr19	1286097	1286145	CAGE_peak_1_at_EFNA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001353	1353849	1356787	1.97	[{'connected_gene': 'MUM1', 'score': 558.26}, {'connected_gene': 'RPS15P9', 'score': 13.2}, {'connected_gene': 'EFNA2', 'score': 13.15}, {'connected_gene': 'C19orf24', 'score': 5.36}, {'connected_gene': 'GC19P001362', 'score': 0.44}]
chr19	GH19I001279	1279577	1280155	0.96	[{'connected_gene': 'SF3A2', 'score': 13.08}, {'connected_gene': 'DAZAP1', 'score': 12.27}, {'connected_gene': 'MIER2', 'score': 9.96}, {'connected_gene': 'C19orf24', 'score': 0.77}, {'connected_gene': 'EFNA2', 'score': 0.44}]
chr19	GH19I001442	1442711	1446201	1.99	[{'connected_gene': 'APC2', 'score': 574.24}, {'connected_gene': 'SF3A2', 'score': 13.08}, {'connected_gene': 'C19orf24', 'score': 12.96}, {'connected_gene': 'DAZAP1', 'score': 12.42}, {'connected_gene': 'C19orf25', 'score': 12.23}, {'connected_gene': 'REEP6', 'score': 12.2}, {'connected_gene': 'PCSK4', 'score': 12.2}, {'connected_gene': 'SCAMP4', 'score': 11.27}, {'connected_gene': 'MUM1', 'score': 7.09}, {'connected_gene': 'CBARP', 'score': 4.48}, {'connected_gene': 'EFNA2', 'score': 3.18}, {'connected_gene': 'ENSG00000268798', 'score': 0.77}]
chr19	GH19I000942	942421	964263	1.8	[{'connected_gene': 'WDR18', 'score': 12.2}, {'connected_gene': 'DAZAP1', 'score': 12.18}, {'connected_gene': 'ARHGAP45', 'score': 11.96}, {'connected_gene': 'MIER2', 'score': 9.96}, {'connected_gene': 'ARID3A', 'score': 9.7}, {'connected_gene': 'KISS1R', 'score': 7.75}, {'connected_gene': 'SBNO2', 'score': 6.85}, {'connected_gene': 'ENSG00000267159', 'score': 6.41}, {'connected_gene': 'PALM', 'score': 5.77}, {'connected_gene': 'RPS15', 'score': 4.88}, {'connected_gene': 'MIDN', 'score': 4.11}, {'connected_gene': 'EFNA2', 'score': 3.61}, {'connected_gene': 'TMEM259', 'score': 1.65}, {'connected_gene': 'MADCAM1', 'score': 1.41}, {'connected_gene': 'ENSG00000275162', 'score': 0.77}, {'connected_gene': 'GC19P000962', 'score': 0.44}, {'connected_gene': 'GC19M000929', 'score': 0.37}]
chr19	GH19I001357	1357642	1358471	0.52	[{'connected_gene': 'RPS15P9', 'score': 13.18}, {'connected_gene': 'EFNA2', 'score': 13.14}, {'connected_gene': 'C19orf24', 'score': 5.9}, {'connected_gene': 'MUM1', 'score': 0.77}, {'connected_gene': 'GC19P001362', 'score': 0.77}]
chr19	GH19I001658	1658050	1658082	0.68	[{'connected_gene': 'ONECUT3', 'score': 4.11}, {'connected_gene': 'EFNA2', 'score': 1.98}, {'connected_gene': 'GC19M001661', 'score': 0.77}, {'connected_gene': 'TCF3', 'score': 0.44}]
chr19	GH19I001402	1402510	1403511	0.79	[{'connected_gene': 'GAMT', 'score': 555.97}, {'connected_gene': 'EFNA2', 'score': 5.86}, {'connected_gene': 'DAZAP1', 'score': 0.77}]
chr19	GH19I001283	1283286	1285782	1.15	[{'connected_gene': 'EFNA2', 'score': 562.92}, {'connected_gene': 'C19orf24', 'score': 12.62}, {'connected_gene': 'REEP6', 'score': 5.0}, {'connected_gene': 'GAMT', 'score': 1.28}, {'connected_gene': 'ONECUT3', 'score': 1.17}]
chr19	GH19I001285	1285902	1286601	1.52	[{'connected_gene': 'EFNA2', 'score': 550.77}, {'connected_gene': 'GC19M001296', 'score': 0.39}]
chr19	GH19I001290	1290164	1293005	0.93	[{'connected_gene': 'EFNA2', 'score': 0.44}, {'connected_gene': 'GC19M001296', 'score': 0.44}]
chr19	GH19I001236	1236312	1277405	2.7	[{'connected_gene': 'CIRBP', 'score': 618.98}, {'connected_gene': 'C19orf24', 'score': 595.94}, {'connected_gene': 'MIDN', 'score': 576.38}, {'connected_gene': 'CBARP', 'score': 562.42}, {'connected_gene': 'ATP5F1D', 'score': 558.99}, {'connected_gene': 'SF3A2', 'score': 104.86}, {'connected_gene': 'TCF3', 'score': 89.13}, {'connected_gene': 'TMEM259', 'score': 83.59}, {'connected_gene': 'LOC100288123', 'score': 82.94}, {'connected_gene': 'PTBP1', 'score': 62.13}, {'connected_gene': 'MIER2', 'score': 61.11}, {'connected_gene': 'DAZAP1', 'score': 59.9}, {'connected_gene': 'MED16', 'score': 48.92}, {'connected_gene': 'MUM1', 'score': 41.99}, {'connected_gene': 'GRIN3B', 'score': 37.96}, {'connected_gene': 'ENSG00000267317', 'score': 36.38}, {'connected_gene': 'ATP8B3', 'score': 32.93}, {'connected_gene': 'DOT1L', 'score': 32.12}, {'connected_gene': 'RPS15', 'score': 30.05}, {'connected_gene': 'SBNO2', 'score': 24.17}, {'connected_gene': 'ENSG00000261526', 'score': 22.02}, {'connected_gene': 'RNF126', 'score': 18.72}, {'connected_gene': 'STK11', 'score': 18.59}, {'connected_gene': 'MEX3D', 'score': 14.22}, {'connected_gene': 'POLRMT', 'score': 13.18}, {'connected_gene': 'ARHGAP45', 'score': 12.86}, {'connected_gene': 'EFNA2', 'score': 12.69}, {'connected_gene': 'RPS15P9', 'score': 12.61}, {'connected_gene': 'ENSG00000267283', 'score': 11.86}, {'connected_gene': 'SCAMP4', 'score': 11.25}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'R3HDM4', 'score': 10.81}, {'connected_gene': 'CNN2', 'score': 9.75}, {'connected_gene': 'C19orf25', 'score': 5.97}, {'connected_gene': 'APC2', 'score': 5.57}, {'connected_gene': 'ABCA7', 'score': 5.07}, {'connected_gene': 'ARID3A', 'score': 2.5}, {'connected_gene': 'LOC105372236', 'score': 0.44}, {'connected_gene': 'LOC102723811', 'score': 0.44}, {'connected_gene': 'PIR41709', 'score': 0.39}, {'connected_gene': 'CIRBP-AS1', 'score': 0.39}, {'connected_gene': 'PIR41216', 'score': 0.39}, {'connected_gene': 'PIR38372', 'score': 0.37}, {'connected_gene': 'PIR56340', 'score': 0.37}, {'connected_gene': 'PIR42370', 'score': 0.37}, {'connected_gene': 'ENSG00000267778', 'score': 0.37}, {'connected_gene': 'PIR35829', 'score': 0.37}, {'connected_gene': 'PIR59007', 'score': 0.37}, {'connected_gene': 'GC19M001293', 'score': 0.37}, {'connected_gene': 'PIR43300', 'score': 0.37}, {'connected_gene': 'PIR46381', 'score': 0.37}, {'connected_gene': 'PIR54056', 'score': 0.37}, {'connected_gene': 'PIR31042', 'score': 0.37}, {'connected_gene': 'PIR56180', 'score': 0.37}, {'connected_gene': 'PIR52535', 'score': 0.37}, {'connected_gene': 'GC19M001283', 'score': 0.37}, {'connected_gene': 'GC19M001295', 'score': 0.37}, {'connected_gene': 'GC19M001294', 'score': 0.37}, {'connected_gene': 'PIR41701', 'score': 0.37}]
chr19	GH19I001667	1667177	1669682	1.51	[{'connected_gene': 'GC19P001669', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 36.44}, {'connected_gene': 'TMEM259', 'score': 34.75}, {'connected_gene': 'CIRBP', 'score': 30.62}, {'connected_gene': 'LOC100288123', 'score': 23.64}, {'connected_gene': 'DAZAP1', 'score': 23.11}, {'connected_gene': 'PTBP1', 'score': 20.0}, {'connected_gene': 'TCF3', 'score': 14.38}, {'connected_gene': 'RNU6-1223P', 'score': 12.31}, {'connected_gene': 'ATP8B3', 'score': 11.82}, {'connected_gene': 'REXO1', 'score': 11.8}, {'connected_gene': 'SPPL2B', 'score': 11.62}, {'connected_gene': 'RPS15', 'score': 11.2}, {'connected_gene': 'GRIN3B', 'score': 10.87}, {'connected_gene': 'DOT1L', 'score': 10.53}, {'connected_gene': 'MED16', 'score': 10.47}, {'connected_gene': 'LMNB2', 'score': 9.84}, {'connected_gene': 'AP3D1', 'score': 9.71}, {'connected_gene': 'APC2', 'score': 3.5}, {'connected_gene': 'CBARP', 'score': 1.77}, {'connected_gene': 'EFNA2', 'score': 1.42}, {'connected_gene': 'GC19M001661', 'score': 0.44}]
chr19	GH19I001324	1324340	1325942	1.17	[{'connected_gene': 'GC19P001326', 'score': 550.77}, {'connected_gene': 'ENSG00000267372', 'score': 21.52}, {'connected_gene': 'SF3A2', 'score': 13.08}, {'connected_gene': 'MUM1', 'score': 12.87}, {'connected_gene': 'EFNA2', 'score': 12.83}, {'connected_gene': 'DAZAP1', 'score': 12.32}, {'connected_gene': 'MIER2', 'score': 9.96}]
chr19	GH19I001372	1372903	1374952	0.91	[{'connected_gene': 'ENSG00000279488', 'score': 550.77}, {'connected_gene': 'RPS15P9', 'score': 13.33}, {'connected_gene': 'EFNA2', 'score': 13.3}, {'connected_gene': 'MUM1', 'score': 9.26}, {'connected_gene': 'GC19P001362', 'score': 0.39}]