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
ENST00000587541	[[489175, 490039], [501668, 501929], [504744, 505342]]	[[490029, 490039], [501668, 501929], [504744, 504965]]
ENST00000215637	[[496453, 496551], [497832, 498117], [498495, 498825], [501668, 501929], [504744, 505347]]	[[496499, 496551], [497832, 498117], [498495, 498825], [501668, 501929], [504744, 504965]]
ENST00000346144	[[496453, 496551], [497832, 498117], [498495, 498825], [504744, 505347]]	[[496499, 496551], [497832, 498117], [498495, 498825], [504744, 504965]]
ENST00000382683	[[496499, 496551], [498495, 498825], [504744, 504965]]	[[496499, 496551], [498495, 498825], [504744, 504965]]
NM_130762	[[496489, 496551], [497832, 498117], [498495, 498825], [504744, 505343]]	[[496499, 496551], [497832, 498117], [498495, 498825], [504744, 504965]]
NM_130760	[[496489, 496551], [497832, 498117], [498495, 498825], [501668, 501929], [504744, 505343]]	[[496499, 496551], [497832, 498117], [498495, 498825], [501668, 501929], [504744, 504965]]

Promoter

Chrom	Start	End	Description
chr19	489140	489179	CAGE_peak_1_at_MADCAM1_5end
chr19	496478	496490	CAGE_peak_3_at_MADCAM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I000502	502921	503050	0.76	[{'connected_gene': 'TPGS1', 'score': 0.77}, {'connected_gene': 'LOC105372232', 'score': 0.77}, {'connected_gene': 'MADCAM1', 'score': 0.39}]
chr19	GH19I000506	506251	508939	2.28	[{'connected_gene': 'TPGS1', 'score': 550.77}, {'connected_gene': 'LOC105372232', 'score': 550.77}, {'connected_gene': 'DAZAP1', 'score': 12.17}, {'connected_gene': 'MIER2', 'score': 10.03}, {'connected_gene': 'MADCAM1', 'score': 6.43}, {'connected_gene': 'C2CD4C', 'score': 4.8}]
chr19	GH19I000493	493027	496630	1.63	[{'connected_gene': 'MADCAM1', 'score': 554.98}, {'connected_gene': 'TMEM259', 'score': 26.36}, {'connected_gene': 'PTBP1', 'score': 24.57}, {'connected_gene': 'DAZAP1', 'score': 24.32}, {'connected_gene': 'CIRBP', 'score': 21.68}, {'connected_gene': 'MED16', 'score': 18.75}, {'connected_gene': 'LOC105372232', 'score': 13.87}, {'connected_gene': 'ENSG00000267317', 'score': 13.85}, {'connected_gene': 'SHC2', 'score': 13.25}, {'connected_gene': 'MIER2', 'score': 12.14}, {'connected_gene': 'RPS15', 'score': 11.52}, {'connected_gene': 'GRIN3B', 'score': 10.88}, {'connected_gene': 'POLRMT', 'score': 9.95}, {'connected_gene': 'TPGS1', 'score': 0.39}]
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	GH19I000491	491400	492401	0.96	[{'connected_gene': 'MADCAM1', 'score': 13.04}, {'connected_gene': 'C19orf25', 'score': 5.27}, {'connected_gene': 'TPGS1', 'score': 0.37}, {'connected_gene': 'LOC105372232', 'score': 0.37}]
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	GH19I000523	523929	524788	0.81	[{'connected_gene': 'POLRMT', 'score': 11.46}, {'connected_gene': 'FGF22', 'score': 11.44}, {'connected_gene': 'MADCAM1', 'score': 5.75}, {'connected_gene': 'MUM1', 'score': 4.95}, {'connected_gene': 'CDC34', 'score': 0.44}, {'connected_gene': 'LOC105372232', 'score': 0.37}]
chr19	GH19I000510	510241	513382	1.72	[{'connected_gene': 'GZMM', 'score': 20.59}, {'connected_gene': 'TPGS1', 'score': 6.48}, {'connected_gene': 'MADCAM1', 'score': 5.61}, {'connected_gene': 'RNF126', 'score': 4.39}, {'connected_gene': 'LOC105372232', 'score': 0.77}, {'connected_gene': 'CDC34', 'score': 0.37}]
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	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}]