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
ENST00000315489	[[463345, 464364], [467648, 467762], [472393, 472501], [474620, 474983]]	[[463843, 464364], [467648, 467762], [472393, 472501], [474620, 474747]]
ENST00000382696	[[463466, 464364], [467648, 467762], [474620, 474880]]	[[463843, 464364], [467648, 467762], [474620, 474747]]
ENST00000591681	[[464145, 464364], [467648, 467762], [472393, 472631]]	None
NM_182577	[[463345, 464364], [467648, 467762], [472393, 472501], [474620, 474983]]	[[463843, 464364], [467648, 467762], [472393, 472501], [474620, 474747]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I000487	487477	490210	2.02	[{'connected_gene': 'MADCAM1', 'score': 562.85}, {'connected_gene': 'DAZAP1', 'score': 16.4}, {'connected_gene': 'TMEM259', 'score': 15.98}, {'connected_gene': 'SHC2', 'score': 14.27}, {'connected_gene': 'LOC105372232', 'score': 13.84}, {'connected_gene': 'MIER2', 'score': 12.52}, {'connected_gene': 'PTBP1', 'score': 11.95}, {'connected_gene': 'MED16', 'score': 11.43}, {'connected_gene': 'ENSG00000267317', 'score': 11.29}, {'connected_gene': 'RNF126', 'score': 10.6}, {'connected_gene': 'GRIN3B', 'score': 10.52}, {'connected_gene': 'ODF3L2', 'score': 0.39}]
chr19	GH19I000474	474973	475032	0.61	[{'connected_gene': 'ODF3L2', 'score': 550.77}, {'connected_gene': 'SHC2', 'score': 8.56}, {'connected_gene': 'MADCAM1', 'score': 0.39}]
chr19	GH19I000479	479872	480698	1.38	[{'connected_gene': 'DAZAP1', 'score': 108.17}, {'connected_gene': 'TMEM259', 'score': 95.64}, {'connected_gene': 'PTBP1', 'score': 86.84}, {'connected_gene': 'ENSG00000267317', 'score': 77.11}, {'connected_gene': 'MIER2', 'score': 50.16}, {'connected_gene': 'GRIN3B', 'score': 31.46}, {'connected_gene': 'MED16', 'score': 28.78}, {'connected_gene': 'CNN2', 'score': 28.26}, {'connected_gene': 'RPS15', 'score': 19.96}, {'connected_gene': 'RNF126', 'score': 19.41}, {'connected_gene': 'CIRBP', 'score': 18.84}, {'connected_gene': 'CFD', 'score': 14.79}, {'connected_gene': 'SBNO2', 'score': 12.97}, {'connected_gene': 'STK11', 'score': 10.57}, {'connected_gene': 'MIDN', 'score': 10.38}, {'connected_gene': 'FSTL3', 'score': 9.82}, {'connected_gene': 'APC2', 'score': 9.76}, {'connected_gene': 'PLPPR3', 'score': 9.72}, {'connected_gene': 'ODF3L2', 'score': 0.44}, {'connected_gene': 'MADCAM1', 'score': 0.44}]
chr19	GH19I000459	459441	462745	1.98	[{'connected_gene': 'SHC2', 'score': 579.9}, {'connected_gene': 'C19orf24', 'score': 12.89}, {'connected_gene': 'ODF3L2', 'score': 0.39}]
chr19	GH19I000485	485223	486496	1.25	[{'connected_gene': 'SHC2', 'score': 15.26}, {'connected_gene': 'FGF22', 'score': 9.49}, {'connected_gene': 'HCN2', 'score': 7.88}, {'connected_gene': 'MADCAM1', 'score': 6.78}, {'connected_gene': 'PALM', 'score': 3.71}, {'connected_gene': 'C2CD4C', 'score': 1.3}, {'connected_gene': 'ODF3L2', 'score': 0.39}]
chr19	GH19I000481	481673	481793	0.38	[{'connected_gene': 'SHC2', 'score': 11.51}, {'connected_gene': 'FGF22', 'score': 4.65}, {'connected_gene': 'HCN2', 'score': 4.24}, {'connected_gene': 'PALM', 'score': 1.44}, {'connected_gene': 'MADCAM1', 'score': 0.44}, {'connected_gene': 'ODF3L2', 'score': 0.44}]
chr19	GH19I000441	441805	442098	0.51	[{'connected_gene': 'SHC2', 'score': 5.19}, {'connected_gene': 'FGF22', 'score': 4.79}, {'connected_gene': 'HCN2', 'score': 4.14}, {'connected_gene': 'PALM', 'score': 2.66}, {'connected_gene': 'C2CD4C', 'score': 1.89}, {'connected_gene': 'ODF3L2', 'score': 1.61}, {'connected_gene': 'PIR58364', 'score': 0.44}, {'connected_gene': 'PIR54633', 'score': 0.39}]
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	GH19I000569	569647	577000	2.77	[{'connected_gene': 'LOC105372233', 'score': 579.92}, {'connected_gene': 'BSG', 'score': 560.69}, {'connected_gene': 'GC19P000572', 'score': 550.77}, {'connected_gene': 'GC19P000573', 'score': 550.77}, {'connected_gene': 'TMEM259', 'score': 20.94}, {'connected_gene': 'DAZAP1', 'score': 15.58}, {'connected_gene': 'PTBP1', 'score': 15.38}, {'connected_gene': 'ENSG00000267317', 'score': 14.63}, {'connected_gene': 'SBNO2', 'score': 11.99}, {'connected_gene': 'MED16', 'score': 11.83}, {'connected_gene': 'MIDN', 'score': 11.16}, {'connected_gene': 'GRIN3B', 'score': 10.95}, {'connected_gene': 'ARID3A', 'score': 10.93}, {'connected_gene': 'CDC34', 'score': 2.83}, {'connected_gene': 'R3HDM4', 'score': 2.07}, {'connected_gene': 'ODF3L2', 'score': 1.75}, {'connected_gene': 'GC19P000583', 'score': 0.44}]