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
ENST00000395633	[[1241748, 1241990], [1242454, 1242608], [1244095, 1244184], [1244313, 1244439], [1244735, 1244823]]	[[1241849, 1241990], [1242454, 1242608], [1244095, 1244184], [1244313, 1244436]]
ENST00000215375	[[1241748, 1241990], [1242454, 1242608], [1244095, 1244184], [1244313, 1244824]]	[[1241849, 1241990], [1242454, 1242608], [1244095, 1244184], [1244313, 1244436]]
ENST00000592624	[[1241766, 1243353]]	None
ENST00000590265	[[1241768, 1242608], [1244095, 1244184], [1244313, 1244439], [1244735, 1244824]]	None
ENST00000588538	[[1241815, 1242608], [1244095, 1244184], [1244313, 1244824]]	None
ENST00000591660	[[1241818, 1241990], [1242454, 1242608], [1244095, 1244184], [1244313, 1244439], [1244689, 1244785]]	[[1241849, 1241990], [1242454, 1242608], [1244095, 1244184], [1244313, 1244436]]
ENST00000591249	[[1242326, 1242608], [1244095, 1244184], [1244313, 1244540]]	None
ENST00000589478	[[1244055, 1244184], [1244313, 1244824]]	None

Promoter

Chrom	Start	End	Description
chr19	1241732	1241837	CAGE_peak_1_at_ATP5D_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001230	1230440	1231077	0.57	[{'connected_gene': 'STK11', 'score': 14.36}, {'connected_gene': 'SBNO2', 'score': 14.35}, {'connected_gene': 'ATP5F1D', 'score': 8.36}, {'connected_gene': 'GC19M001234', 'score': 0.44}, {'connected_gene': 'CBARP', 'score': 0.39}, {'connected_gene': 'PIR41652', 'score': 0.37}]
chr19	GH19I001202	1202774	1210739	2.53	[{'connected_gene': 'STK11', 'score': 569.41}, {'connected_gene': 'CIRBP', 'score': 114.04}, {'connected_gene': 'TMEM259', 'score': 95.3}, {'connected_gene': 'DAZAP1', 'score': 83.22}, {'connected_gene': 'LOC100288123', 'score': 78.9}, {'connected_gene': 'TCF3', 'score': 56.34}, {'connected_gene': 'PTBP1', 'score': 55.98}, {'connected_gene': 'GRIN3B', 'score': 49.97}, {'connected_gene': 'DOT1L', 'score': 39.09}, {'connected_gene': 'ENSG00000267317', 'score': 35.07}, {'connected_gene': 'POLRMT', 'score': 30.81}, {'connected_gene': 'MIER2', 'score': 30.29}, {'connected_gene': 'MEX3D', 'score': 29.05}, {'connected_gene': 'ENSG00000267283', 'score': 27.36}, {'connected_gene': 'MUM1', 'score': 21.62}, {'connected_gene': 'MED16', 'score': 19.67}, {'connected_gene': 'RPS15', 'score': 19.64}, {'connected_gene': 'AP3D1', 'score': 19.35}, {'connected_gene': 'SCAMP4', 'score': 14.86}, {'connected_gene': 'ENSG00000261526', 'score': 11.74}, {'connected_gene': 'ATP8B3', 'score': 11.26}, {'connected_gene': 'LOC105372232', 'score': 10.26}, {'connected_gene': 'PALM', 'score': 9.78}, {'connected_gene': 'ATP5F1D', 'score': 4.73}, {'connected_gene': 'HMGB2P1', 'score': 0.77}, {'connected_gene': 'PIR41652', 'score': 0.44}]
chr19	GH19I001220	1220859	1222521	0.86	[{'connected_gene': 'ATP5F1D', 'score': 8.0}, {'connected_gene': 'STK11', 'score': 5.34}, {'connected_gene': 'PIR41652', 'score': 0.44}, {'connected_gene': 'GC19M001234', 'score': 0.39}]
chr19	GH19I001231	1231639	1233551	1.03	[{'connected_gene': 'SBNO2', 'score': 24.12}, {'connected_gene': 'TCF3', 'score': 17.11}, {'connected_gene': 'PTBP1', 'score': 16.45}, {'connected_gene': 'TMEM259', 'score': 15.44}, {'connected_gene': 'ENSG00000267317', 'score': 14.61}, {'connected_gene': 'STK11', 'score': 14.35}, {'connected_gene': 'LOC100288123', 'score': 13.44}, {'connected_gene': 'DAZAP1', 'score': 12.8}, {'connected_gene': 'GRIN3B', 'score': 10.58}, {'connected_gene': 'MED16', 'score': 9.97}, {'connected_gene': 'CNN2', 'score': 9.88}, {'connected_gene': 'MIER2', 'score': 9.81}, {'connected_gene': 'CBARP', 'score': 8.84}, {'connected_gene': 'ATP5F1D', 'score': 8.64}, {'connected_gene': 'GC19M001234', 'score': 0.77}, {'connected_gene': 'PIR41652', 'score': 0.34}]
chr19	GH19I001164	1164400	1174911	2.76	[{'connected_gene': 'SBNO2', 'score': 556.38}, {'connected_gene': 'LOC102725180', 'score': 550.77}, {'connected_gene': 'DAZAP1', 'score': 32.71}, {'connected_gene': 'LOC100288123', 'score': 31.96}, {'connected_gene': 'TMEM259', 'score': 26.44}, {'connected_gene': 'PTBP1', 'score': 24.56}, {'connected_gene': 'TCF3', 'score': 22.67}, {'connected_gene': 'MIER2', 'score': 22.32}, {'connected_gene': 'CIRBP', 'score': 21.82}, {'connected_gene': 'MED16', 'score': 18.76}, {'connected_gene': 'MEX3D', 'score': 14.21}, {'connected_gene': 'ENSG00000267317', 'score': 13.88}, {'connected_gene': 'RPS15', 'score': 11.56}, {'connected_gene': 'GRIN3B', 'score': 10.95}, {'connected_gene': 'DOT1L', 'score': 10.51}, {'connected_gene': 'POLRMT', 'score': 9.87}, {'connected_gene': 'AP3D1', 'score': 9.69}, {'connected_gene': 'GPX4', 'score': 6.44}, {'connected_gene': 'WDR18', 'score': 6.32}, {'connected_gene': 'ABCA7', 'score': 6.18}, {'connected_gene': 'CFD', 'score': 1.83}, {'connected_gene': 'ATP5F1D', 'score': 1.49}, {'connected_gene': 'LOC102723798', 'score': 0.44}]
chr19	GH19I000867	867005	867400	0.69	[{'connected_gene': 'CFD', 'score': 22.93}, {'connected_gene': 'MED16', 'score': 8.78}, {'connected_gene': 'ODF3L2', 'score': 4.95}, {'connected_gene': 'ATP5F1D', 'score': 4.34}, {'connected_gene': 'GPX4', 'score': 4.21}, {'connected_gene': 'TPGS1', 'score': 3.69}, {'connected_gene': 'CNN2', 'score': 2.75}, {'connected_gene': 'POLRMT', 'score': 2.16}, {'connected_gene': 'BSG', 'score': 1.73}, {'connected_gene': 'C19orf24', 'score': 1.17}, {'connected_gene': 'PIR33777', '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	GH19I001212	1212513	1219386	1.22	[{'connected_gene': 'CIRBP', 'score': 14.79}, {'connected_gene': 'ATP5F1D', 'score': 8.2}, {'connected_gene': 'WDR18', 'score': 6.18}, {'connected_gene': 'STK11', 'score': 5.76}, {'connected_gene': 'PIR41652', 'score': 0.77}, {'connected_gene': 'GC19M001234', 'score': 0.34}]
chr19	GH19I001211	1211168	1212371	0.89	[{'connected_gene': 'PIR41652', 'score': 550.77}, {'connected_gene': 'ATP5F1D', 'score': 6.08}, {'connected_gene': 'WDR18', 'score': 5.48}, {'connected_gene': 'HMGB2P1', 'score': 0.44}, {'connected_gene': 'STK11', 'score': 0.29}]