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
ENST00000341105	[[128198269, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205919], [128211741, 128212028]]	[[128199861, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205874]]
ENST00000489987	[[128198988, 128200161], [128200661, 128200921]]	None
ENST00000430265	[[128198988, 128200161], [128200661, 128200745], [128202702, 128202848], [128204569, 128205211], [128205645, 128205919], [128206553, 128206759]]	[[128199861, 128200161], [128200661, 128200745], [128202702, 128202848], [128204569, 128205211], [128205645, 128205874]]
ENST00000487848	[[128199861, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205919], [128206553, 128206764], [128207194, 128207373]]	[[128199861, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205874]]
ENST00000492608	[[128204990, 128205211], [128205645, 128205919], [128209142, 128209491]]	[[128204990, 128205211], [128205645, 128205874]]
ENST00000498200	[[128205850, 128205919], [128210846, 128211065], [128211741, 128212016]]	[[128205850, 128205874]]
NM_001145662	[[128198264, 128200161], [128200661, 128200745], [128202702, 128202848], [128204569, 128205211], [128205645, 128205919], [128206553, 128206764]]	[[128199861, 128200161], [128200661, 128200745], [128202702, 128202848], [128204569, 128205211], [128205645, 128205874]]
NM_001145661	[[128198264, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205919], [128206553, 128206764], [128207194, 128207373]]	[[128199861, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205874]]
NM_032638	[[128198264, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205919], [128211741, 128212030]]	[[128199861, 128200161], [128200661, 128200787], [128202702, 128202848], [128204569, 128205211], [128205645, 128205874]]

Promoter

Chrom	Start	End	Description
chr3	128200742	128200751	CAGE_peak_16_at_GATA2_5end
chr3	128203013	128203022	CAGE_peak_19_at_GATA2_5end
chr3	128203047	128203053	CAGE_peak_25_at_GATA2_5end
chr3	128205701	128205712	CAGE_peak_10_at_GATA2_5end
chr3	128205779	128205797	CAGE_peak_5_at_GATA2_5end
chr3	128205801	128205819	CAGE_peak_6_at_GATA2_5end
chr3	128205876	128205904	CAGE_peak_4_at_GATA2_5end
chr3	128206762	128206781	CAGE_peak_2_at_GATA2_5end
chr3	128207327	128207348	CAGE_peak_8_at_GATA2_5end
chr3	128207349	128207386	CAGE_peak_3_at_GATA2_5end
chr3	128212033	128212051	CAGE_peak_1_at_GATA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I128111	128111519	128115107	1.2	[{'connected_gene': 'RUVBL1', 'score': 14.7}, {'connected_gene': 'RUVBL1-AS1', 'score': 11.85}, {'connected_gene': 'RNU2-37P', 'score': 11.85}, {'connected_gene': 'RNU6-823P', 'score': 11.7}, {'connected_gene': 'EEFSEC', 'score': 6.92}, {'connected_gene': 'SEC61A1', 'score': 4.44}, {'connected_gene': 'GATA2', 'score': 3.82}, {'connected_gene': 'PIR39032', 'score': 0.31}]
chr3	GH03I128431	128431865	128436555	1.51	[{'connected_gene': 'DNAJB8-AS1', 'score': 13.22}, {'connected_gene': 'DNAJB8', 'score': 12.58}, {'connected_gene': 'LINC01565', 'score': 11.17}, {'connected_gene': 'GATA2', 'score': 1.51}, {'connected_gene': 'GC03M128409', 'score': 0.37}, {'connected_gene': 'GC03P128459', 'score': 0.31}]
chr3	GH03I128616	128616167	128620958	1.45	[{'connected_gene': 'GP9', 'score': 19.4}, {'connected_gene': 'POU5F1P6', 'score': 13.21}, {'connected_gene': 'DNAJB8', 'score': 12.52}, {'connected_gene': 'RPN1', 'score': 8.46}, {'connected_gene': 'GATA2', 'score': 4.52}, {'connected_gene': 'RAB7A', 'score': 2.92}, {'connected_gene': 'KIAA1257', 'score': 1.84}, {'connected_gene': 'GC03P128663', 'score': 0.44}, {'connected_gene': 'LINC01565', 'score': 0.26}]
chr3	GH03I128495	128495204	128496118	1.26	[{'connected_gene': 'GATA2', 'score': 19.24}, {'connected_gene': 'DNAJB8', 'score': 15.66}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.92}, {'connected_gene': 'EEFSEC', 'score': 1.2}, {'connected_gene': 'GATA2-AS1', 'score': 0.44}, {'connected_gene': 'LOC90246', 'score': 0.39}]
chr3	GH03I128590	128590996	128592807	1.19	[{'connected_gene': 'GATA2', 'score': 15.66}, {'connected_gene': 'DNAJB8', 'score': 13.3}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.96}, {'connected_gene': 'RNU6-823P', 'score': 10.61}, {'connected_gene': 'RPN1', 'score': 7.96}, {'connected_gene': 'H1FX-AS1', 'score': 4.26}, {'connected_gene': 'RAB7A', 'score': 1.34}, {'connected_gene': 'LINC01565', 'score': 0.37}, {'connected_gene': 'GC03P128663', 'score': 0.28}]
chr3	GH03I128585	128585187	128585612	0.73	[{'connected_gene': 'GATA2', 'score': 31.71}, {'connected_gene': 'DNAJB8', 'score': 18.48}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.35}, {'connected_gene': 'RNU6-823P', 'score': 10.12}, {'connected_gene': 'EEFSEC', 'score': 1.6}, {'connected_gene': 'LINC01565', 'score': 0.44}, {'connected_gene': 'GC03P128663', 'score': 0.26}]
chr3	GH03I128606	128606157	128606384	0.38	[{'connected_gene': 'GATA2', 'score': 19.42}, {'connected_gene': 'DNAJB8', 'score': 12.11}, {'connected_gene': 'LINC01565', 'score': 11.9}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.78}, {'connected_gene': 'RNU6-823P', 'score': 10.06}, {'connected_gene': 'KIAA1257', 'score': 1.47}, {'connected_gene': 'GC03P128663', 'score': 0.34}]
chr3	GH03I128407	128407760	128418494	1.73	[{'connected_gene': 'GATA2', 'score': 27.5}, {'connected_gene': 'DNAJB8', 'score': 19.43}, {'connected_gene': 'ENSG00000244932', 'score': 15.66}, {'connected_gene': 'RPL32P3', 'score': 14.84}, {'connected_gene': 'H1FX-AS1', 'score': 14.81}, {'connected_gene': 'TPRA1', 'score': 14.35}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.02}, {'connected_gene': 'EFCC1', 'score': 10.6}, {'connected_gene': 'EEFSEC', 'score': 1.39}, {'connected_gene': 'LINC01565', 'score': 1.23}, {'connected_gene': 'GC03M128409', 'score': 0.44}, {'connected_gene': 'GC03P128380', 'score': 0.29}]
chr3	GH03I128079	128079065	128082560	1.36	[{'connected_gene': 'GATA2', 'score': 22.67}, {'connected_gene': 'TPRA1', 'score': 14.36}, {'connected_gene': 'EFCC1', 'score': 10.6}, {'connected_gene': 'SEC61A1', 'score': 9.53}, {'connected_gene': 'EEFSEC', 'score': 7.24}, {'connected_gene': 'DNAJB8', 'score': 2.52}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.44}, {'connected_gene': 'PIR39032', 'score': 0.22}, {'connected_gene': 'RUVBL1', 'score': 0.19}]
chr3	GH03I128504	128503178	128503327	0.52	[{'connected_gene': 'LINC01565', 'score': 11.92}, {'connected_gene': 'DNAJB8', 'score': 11.8}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.74}, {'connected_gene': 'LOC90246', 'score': 0.77}, {'connected_gene': 'GATA2-AS1', 'score': 0.39}, {'connected_gene': 'GATA2', 'score': 0.39}]
chr3	GH03I128503	128503875	128507601	1.05	[{'connected_gene': 'LINC01565', 'score': 11.92}, {'connected_gene': 'DNAJB8', 'score': 11.8}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.73}, {'connected_gene': 'ACAD9', 'score': 9.44}, {'connected_gene': 'GATA2-AS1', 'score': 8.44}, {'connected_gene': 'TMED10P2', 'score': 5.63}, {'connected_gene': 'LOC90246', 'score': 0.77}, {'connected_gene': 'GATA2', 'score': 0.39}]
chr3	GH03I128496	128496153	128498367	1.58	[{'connected_gene': 'DNAJB8', 'score': 19.43}, {'connected_gene': 'GATA2', 'score': 17.86}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.92}, {'connected_gene': 'LINC01565', 'score': 11.57}, {'connected_gene': 'GATA2-AS1', 'score': 8.64}, {'connected_gene': 'TMED10P2', 'score': 5.91}, {'connected_gene': 'ABTB1', 'score': 5.06}, {'connected_gene': 'EEFSEC', 'score': 1.38}, {'connected_gene': 'LOC90246', 'score': 0.39}]
chr3	GH03I128479	128479621	128480957	0.56	[{'connected_gene': 'GATA2-AS1', 'score': 0.44}, {'connected_gene': 'GATA2', 'score': 0.39}, {'connected_gene': 'DNAJB8', 'score': 0.39}]
chr3	GH03I128481	128481848	128493649	2.24	[{'connected_gene': 'GATA2-AS1', 'score': 558.69}, {'connected_gene': 'GATA2', 'score': 550.44}, {'connected_gene': 'RPL32P3', 'score': 23.49}, {'connected_gene': 'ISY1', 'score': 13.72}, {'connected_gene': 'TPRA1', 'score': 12.95}, {'connected_gene': 'DNAJB8', 'score': 12.61}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.97}, {'connected_gene': 'H1FX', 'score': 11.32}, {'connected_gene': 'H1FX-AS1', 'score': 10.93}, {'connected_gene': 'IFT122', 'score': 10.85}, {'connected_gene': 'ENSG00000244932', 'score': 9.85}, {'connected_gene': 'TMED10P2', 'score': 6.26}, {'connected_gene': 'POU5F1P6', 'score': 4.39}]
chr3	GH03I128074	128074944	128078643	1.96	[{'connected_gene': 'RUVBL1-AS1', 'score': 550.77}, {'connected_gene': 'RNU2-37P', 'score': 550.77}, {'connected_gene': 'GC03M128076', 'score': 550.77}, {'connected_gene': 'GATA2', 'score': 15.73}, {'connected_gene': 'SEC61A1', 'score': 9.55}, {'connected_gene': 'RUVBL1', 'score': 4.74}, {'connected_gene': 'DNAJB8', 'score': 2.17}, {'connected_gene': 'PIR39032', 'score': 0.21}]
chr3	GH03I128607	128607696	128609087	1.25	[{'connected_gene': 'POU5F1P6', 'score': 9.84}, {'connected_gene': 'GATA2', 'score': 6.16}, {'connected_gene': 'RPN1', 'score': 4.25}, {'connected_gene': 'GC03P128663', 'score': 0.37}, {'connected_gene': 'LINC01565', 'score': 0.29}]