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
ENST00000397374	[[1575273, 1578804], [1579023, 1579147], [1579341, 1579501], [1580118, 1580285], [1585080, 1585219], [1586825, 1587164], [1593130, 1593150]]	[[1577747, 1578804], [1579023, 1579147], [1579341, 1579501], [1580118, 1580285], [1585080, 1585219], [1586825, 1587056]]
ENST00000331588	[[1575280, 1578804], [1579023, 1579147], [1579341, 1579501], [1580118, 1580285], [1585080, 1585219], [1586825, 1587166]]	[[1577747, 1578804], [1579023, 1579147], [1579341, 1579501], [1580118, 1580285], [1585080, 1585219], [1586825, 1587056]]
ENST00000528778	[[1578752, 1578804], [1579023, 1579147], [1579341, 1579501], [1580118, 1580285], [1580539, 1580673]]	None
NM_004420	[[1575280, 1578804], [1579023, 1579147], [1579341, 1579501], [1580118, 1580285], [1585080, 1585219], [1586825, 1587164], [1593130, 1593150]]	[[1577747, 1578804], [1579023, 1579147], [1579341, 1579501], [1580118, 1580285], [1585080, 1585219], [1586825, 1587056]]

Promoter

Chrom	Start	End	Description
chr11	1593301	1593309	CAGE_peak_4_at_DUSP8_5end
chr11	1593326	1593335	CAGE_peak_3_at_DUSP8_5end
chr11	1593464	1593483	CAGE_peak_2_at_DUSP8_5end
chr11	1593491	1593527	CAGE_peak_1_at_DUSP8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I001297	1297153	1301052	1.54	[{'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.64}, {'connected_gene': 'TMEM80', 'score': 11.07}, {'connected_gene': 'GATD1', 'score': 10.77}, {'connected_gene': 'ENSG00000255142', 'score': 10.74}, {'connected_gene': 'ENSG00000255158', 'score': 10.2}, {'connected_gene': 'BRSK2', 'score': 9.59}, {'connected_gene': 'TOLLIP-AS1', 'score': 7.91}, {'connected_gene': 'TOLLIP', 'score': 2.45}, {'connected_gene': 'DUSP8', 'score': 1.77}, {'connected_gene': 'LOC105376512', 'score': 0.77}, {'connected_gene': 'GC11M001275', 'score': 0.34}, {'connected_gene': 'PIR51627', 'score': 0.34}]
chr11	GH11I001301	1301488	1312143	2.68	[{'connected_gene': 'TOLLIP', 'score': 567.47}, {'connected_gene': 'TSPAN4', 'score': 15.23}, {'connected_gene': 'TMEM80', 'score': 12.55}, {'connected_gene': 'SNORA52', 'score': 11.97}, {'connected_gene': 'PHRF1', 'score': 11.74}, {'connected_gene': 'ENSG00000255237', 'score': 10.44}, {'connected_gene': 'PIDD1', 'score': 10.06}, {'connected_gene': 'BRSK2', 'score': 9.45}, {'connected_gene': 'TOLLIP-AS1', 'score': 9.07}, {'connected_gene': 'DUSP8', 'score': 2.49}, {'connected_gene': 'LOC105376512', 'score': 0.77}, {'connected_gene': 'GC11P001310', 'score': 0.77}, {'connected_gene': 'GC11P001309', 'score': 0.77}]
chr11	GH11I001555	1554331	1554520	0.72	[{'connected_gene': 'KRTAP5-1', 'score': 12.51}, {'connected_gene': 'KRTAP5-2', 'score': 11.74}, {'connected_gene': 'MOB2', 'score': 10.73}, {'connected_gene': 'LOC101927562', 'score': 0.77}, {'connected_gene': 'DUSP8', 'score': 0.37}, {'connected_gene': 'GC11P001533', 'score': 0.34}]
chr11	GH11I002139	2139618	2152660	2.02	[{'connected_gene': 'IGF2', 'score': 556.82}, {'connected_gene': 'TSSC4', 'score': 13.29}, {'connected_gene': 'ENSG00000199550', 'score': 10.95}, {'connected_gene': 'CD81', 'score': 10.95}, {'connected_gene': 'LSP1', 'score': 10.84}, {'connected_gene': 'LOC100505570', 'score': 10.59}, {'connected_gene': 'KRTAP5-6', 'score': 10.59}, {'connected_gene': 'FAM99B', 'score': 10.59}, {'connected_gene': 'KRTAP5-5', 'score': 9.81}, {'connected_gene': 'TH', 'score': 6.71}, {'connected_gene': 'TNNT3', 'score': 6.48}, {'connected_gene': 'DUSP8', 'score': 5.39}, {'connected_gene': 'ENSG00000236710', 'score': 4.74}, {'connected_gene': 'IGF2-AS', 'score': 0.44}, {'connected_gene': 'GC11M002158', 'score': 0.44}, {'connected_gene': 'GC11M002156', 'score': 0.44}, {'connected_gene': 'INS-IGF2', 'score': 0.37}]
chr11	GH11I001545	1545734	1549956	1.53	[{'connected_gene': 'KRTAP5-AS1', 'score': 20.26}, {'connected_gene': 'MOB2', 'score': 9.21}, {'connected_gene': 'TNNI2', 'score': 2.8}, {'connected_gene': 'TNNT3', 'score': 2.28}, {'connected_gene': 'BRSK2', 'score': 1.6}, {'connected_gene': 'DUSP8', 'score': 1.59}, {'connected_gene': 'KRTAP5-3', 'score': 1.53}, {'connected_gene': 'LOC101927562', 'score': 0.44}, {'connected_gene': 'GC11P001533', 'score': 0.39}]
chr11	GH11I001605	1605696	1606480	0.49	[{'connected_gene': 'KRTAP5-AS1', 'score': 26.7}, {'connected_gene': 'KRTAP5-5', 'score': 23.05}, {'connected_gene': 'KRTAP5-1', 'score': 12.15}, {'connected_gene': 'DUSP8', 'score': 12.11}, {'connected_gene': 'FAM99B', 'score': 10.53}, {'connected_gene': 'LOC100505570', 'score': 10.53}, {'connected_gene': 'KRTAP5-6', 'score': 10.51}, {'connected_gene': 'KRTAP5-3', 'score': 0.77}, {'connected_gene': 'GC11P001598', 'score': 0.44}]
chr11	GH11I001561	1561338	1563627	0.46	[{'connected_gene': 'KRTAP5-AS1', 'score': 21.96}, {'connected_gene': 'KRTAP5-2', 'score': 13.0}, {'connected_gene': 'KRTAP5-5', 'score': 10.77}, {'connected_gene': 'MOB2', 'score': 9.36}, {'connected_gene': 'GC11M001556', 'score': 0.44}, {'connected_gene': 'GC11M001565', 'score': 0.44}, {'connected_gene': 'DUSP8', 'score': 0.39}]
chr11	GH11I001564	1564106	1565320	0.93	[{'connected_gene': 'KRTAP5-AS1', 'score': 21.83}, {'connected_gene': 'TMEM80', 'score': 17.36}, {'connected_gene': 'PIDD1', 'score': 15.13}, {'connected_gene': 'KRTAP5-2', 'score': 13.02}, {'connected_gene': 'PHRF1', 'score': 12.05}, {'connected_gene': 'KRTAP5-5', 'score': 10.77}, {'connected_gene': 'ENSG00000255142', 'score': 10.19}, {'connected_gene': 'ENSG00000255158', 'score': 9.81}, {'connected_gene': 'GC11M001565', 'score': 0.77}, {'connected_gene': 'GC11M001556', 'score': 0.44}, {'connected_gene': 'DUSP8', 'score': 0.44}]
chr11	GH11I001567	1567004	1575000	2.15	[{'connected_gene': 'KRTAP5-AS1', 'score': 572.17}, {'connected_gene': 'DUSP8', 'score': 550.77}, {'connected_gene': 'KRTAP5-2', 'score': 13.03}, {'connected_gene': 'KRTAP5-5', 'score': 10.79}, {'connected_gene': 'MOB2', 'score': 9.3}, {'connected_gene': 'GC11M001565', 'score': 0.77}]
chr11	GH11I001576	1576066	1576412	0.2	[{'connected_gene': 'KRTAP5-AS1', 'score': 0.77}, {'connected_gene': 'DUSP8', 'score': 0.77}, {'connected_gene': 'KRTAP5-1', 'score': 0.44}]
chr11	GH11I001241	1241507	1242270	0.2	[{'connected_gene': 'DUSP8', 'score': 4.93}, {'connected_gene': 'TOLLIP-AS1', 'score': 4.89}, {'connected_gene': 'GC11P001248', 'score': 0.44}, {'connected_gene': 'ENSG00000255177', 'score': 0.44}, {'connected_gene': 'GC11M001230', 'score': 0.39}, {'connected_gene': 'MUC5B', 'score': 0.37}]
chr11	GH11I001556	1556477	1560985	1.22	[{'connected_gene': 'GC11M001556', 'score': 550.77}, {'connected_gene': 'KRTAP5-AS1', 'score': 21.8}, {'connected_gene': 'MOB2', 'score': 19.89}, {'connected_gene': 'KRTAP5-1', 'score': 12.52}, {'connected_gene': 'KRTAP5-2', 'score': 11.75}, {'connected_gene': 'GC11M001565', 'score': 0.44}, {'connected_gene': 'DUSP8', 'score': 0.39}]
chr11	GH11I001382	1382361	1384020	1.34	[{'connected_gene': 'GC11P001384', 'score': 550.77}, {'connected_gene': 'GC11M001373', 'score': 550.77}, {'connected_gene': 'TOLLIP-AS1', 'score': 16.94}, {'connected_gene': 'TOLLIP', 'score': 11.51}, {'connected_gene': 'MOB2', 'score': 10.72}, {'connected_gene': 'DUSP8', 'score': 10.1}, {'connected_gene': 'BRSK2', 'score': 3.26}, {'connected_gene': 'IFITM10', 'score': 1.76}]
chr11	GH11I001554	1554902	1555760	0.2	[{'connected_gene': 'GC11M001556', 'score': 550.77}, {'connected_gene': 'LOC101927562', 'score': 550.77}, {'connected_gene': 'KRTAP5-AS1', 'score': 21.81}, {'connected_gene': 'KRTAP5-1', 'score': 12.52}, {'connected_gene': 'KRTAP5-2', 'score': 11.74}, {'connected_gene': 'MOB2', 'score': 10.73}, {'connected_gene': 'DUSP8', 'score': 0.37}, {'connected_gene': 'GC11P001533', 'score': 0.34}]