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
ENST00000404589	[[58477840, 58477896], [58484439, 58484509], [58486672, 58488079]]	[[58484482, 58484509], [58486672, 58487359]]
ENST00000490264	[[58477845, 58477896], [58479879, 58480135], [58484439, 58484509], [58486672, 58488054]]	[[58484482, 58484509], [58486672, 58487359]]
ENST00000491093	[[58477873, 58477896], [58484439, 58484509], [58486037, 58486130], [58486672, 58486894]]	[[58486672, 58486894]]
ENST00000479179	[[58479641, 58480135], [58484439, 58484509]]	[[58484482, 58484509]]
ENST00000355076	[[58483499, 58484509], [58486672, 58488087]]	[[58484482, 58484509], [58486672, 58487359]]
ENST00000479470	[[58484154, 58484509], [58486700, 58486819]]	None
NM_001128214	[[58477822, 58477896], [58484439, 58484509], [58486672, 58488087]]	[[58484482, 58484509], [58486672, 58487359]]
NM_153331	[[58484091, 58484509], [58486672, 58488087]]	[[58484482, 58484509], [58486672, 58487359]]

Promoter

Chrom	Start	End	Description
chr3	58477616	58477641	CAGE_peak_2_at_KCTD6_5end
chr3	58477768	58477779	CAGE_peak_4_at_KCTD6_5end
chr3	58477815	58477865	CAGE_peak_1_at_KCTD6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I058495	58495755	58497801	0.49	[{'connected_gene': 'ACOX2', 'score': 11.19}, {'connected_gene': 'PXK', 'score': 11.02}, {'connected_gene': 'HTD2', 'score': 10.58}, {'connected_gene': 'RPP14', 'score': 10.58}, {'connected_gene': 'ENSG00000243384', 'score': 9.88}, {'connected_gene': 'FAM107A', 'score': 9.82}, {'connected_gene': 'ENSG00000272360', 'score': 8.79}, {'connected_gene': 'ABHD6', 'score': 7.76}, {'connected_gene': 'KCTD6', 'score': 0.77}, {'connected_gene': 'RPL27P9', 'score': 0.39}]
chr3	GH03I058332	58332175	58336743	2.28	[{'connected_gene': 'PXK', 'score': 560.03}, {'connected_gene': 'DENND6A', 'score': 80.28}, {'connected_gene': 'FLNB-AS1', 'score': 53.9}, {'connected_gene': 'FLNB', 'score': 51.17}, {'connected_gene': 'KCTD6', 'score': 33.91}, {'connected_gene': 'RPP14', 'score': 24.15}, {'connected_gene': 'PDE12', 'score': 22.54}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.25}, {'connected_gene': 'ABHD6', 'score': 9.9}, {'connected_gene': 'ACOX2', 'score': 9.61}, {'connected_gene': 'ENSG00000272182', 'score': 7.51}, {'connected_gene': 'ENSG00000273493', 'score': 5.34}, {'connected_gene': 'LOC105377106', 'score': 0.37}]
chr3	GH03I058325	58324601	58326200	1.13	[{'connected_gene': 'PXK', 'score': 15.41}, {'connected_gene': 'RPP14', 'score': 13.46}, {'connected_gene': 'KCTD6', 'score': 11.79}, {'connected_gene': 'ACOX2', 'score': 10.38}, {'connected_gene': 'ENSG00000243384', 'score': 10.05}, {'connected_gene': 'FAM107A', 'score': 10.04}, {'connected_gene': 'ABHD6', 'score': 9.97}, {'connected_gene': 'ENSG00000273493', 'score': 5.91}, {'connected_gene': 'DNASE1L3', 'score': 4.28}, {'connected_gene': 'PIR62243', 'score': 0.44}]
chr3	GH03I058172	58172882	58177432	1.63	[{'connected_gene': 'FLNB', 'score': 19.55}, {'connected_gene': 'DNASE1L3', 'score': 19.36}, {'connected_gene': 'RPP14', 'score': 17.23}, {'connected_gene': 'HTD2', 'score': 10.98}, {'connected_gene': 'FLNB-AS1', 'score': 10.77}, {'connected_gene': 'ABHD6', 'score': 10.72}, {'connected_gene': 'KCTD6', 'score': 1.38}, {'connected_gene': 'LOC105377650', 'score': 0.77}, {'connected_gene': 'ENSG00000283148', 'score': 0.77}]
chr3	GH03I058462	58462835	58464443	1.11	[{'connected_gene': 'KCTD6', 'score': 24.33}, {'connected_gene': 'PDHB', 'score': 19.77}, {'connected_gene': 'RPP14', 'score': 17.81}, {'connected_gene': 'PXK', 'score': 14.95}, {'connected_gene': 'DENND6A', 'score': 14.26}, {'connected_gene': 'ACOX2', 'score': 11.4}, {'connected_gene': 'HTD2', 'score': 11.12}, {'connected_gene': 'ENSG00000243384', 'score': 10.55}, {'connected_gene': 'FAM107A', 'score': 10.5}, {'connected_gene': 'FLNB-AS1', 'score': 10.23}, {'connected_gene': 'ENSG00000272360', 'score': 0.31}]
chr3	GH03I058064	58064109	58069106	1.26	[{'connected_gene': 'KCTD6', 'score': 10.42}, {'connected_gene': 'FLNB', 'score': 5.27}, {'connected_gene': 'RPP14', 'score': 5.25}, {'connected_gene': 'FLNB-AS1', 'score': 4.46}, {'connected_gene': 'ARF4', 'score': 4.26}, {'connected_gene': 'GC03P058010', 'score': 0.22}]
chr3	GH03I058213	58213935	58218000	1.4	[{'connected_gene': 'DNASE1L3', 'score': 562.06}, {'connected_gene': 'RPP14', 'score': 13.12}, {'connected_gene': 'PDHB', 'score': 4.75}, {'connected_gene': 'KCTD6', 'score': 2.83}, {'connected_gene': 'PXK', 'score': 2.3}, {'connected_gene': 'ABHD6', 'score': 0.34}]
chr3	GH03I058647	58647351	58648632	0.69	[{'connected_gene': 'FAM107A', 'score': 18.62}, {'connected_gene': 'FAM3D-AS1', 'score': 11.29}, {'connected_gene': 'KCTD6', 'score': 10.48}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'FAM3D', 'score': 0.37}]
chr3	GH03I058469	58469934	58473315	1.73	[{'connected_gene': 'RPP14', 'score': 31.64}, {'connected_gene': 'PXK', 'score': 22.34}, {'connected_gene': 'PDHB', 'score': 19.19}, {'connected_gene': 'KCTD6', 'score': 14.29}, {'connected_gene': 'ACOX2', 'score': 11.41}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.11}, {'connected_gene': 'ENSG00000243384', 'score': 9.91}, {'connected_gene': 'ENSG00000272182', 'score': 7.91}, {'connected_gene': 'ENSG00000272360', 'score': 0.37}]
chr3	GH03I058423	58423669	58426119	0.49	[{'connected_gene': 'RPP14', 'score': 32.43}, {'connected_gene': 'PXK', 'score': 23.9}, {'connected_gene': 'KCTD6', 'score': 11.56}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.68}, {'connected_gene': 'FAM107A', 'score': 9.43}, {'connected_gene': 'ABHD6', 'score': 7.16}, {'connected_gene': 'ENSG00000272182', 'score': 0.77}, {'connected_gene': 'ENSG00000275607', 'score': 0.25}]
chr3	GH03I058100	58100626	58105486	1.12	[{'connected_gene': 'FLNB-AS1', 'score': 19.19}, {'connected_gene': 'FLNB', 'score': 12.27}, {'connected_gene': 'KCTD6', 'score': 10.43}, {'connected_gene': 'DNASE1L3', 'score': 7.55}, {'connected_gene': 'ENSG00000272360', 'score': 4.59}, {'connected_gene': 'PXK', 'score': 4.16}, {'connected_gene': 'GC03P058010', 'score': 0.16}]
chr3	GH03I058427	58427770	58428806	0.38	[{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'PXK', 'score': 23.29}, {'connected_gene': 'RPP14', 'score': 17.71}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 7.41}, {'connected_gene': 'PDHB', 'score': 0.44}]
chr3	GH03I058490	58490924	58493343	1.91	[{'connected_gene': 'ENSG00000272360', 'score': 563.29}, {'connected_gene': 'KCTD6', 'score': 550.77}, {'connected_gene': 'PXK', 'score': 22.43}, {'connected_gene': 'ACOX2', 'score': 11.19}, {'connected_gene': 'RPL27P9', 'score': 0.37}]
chr3	GH03I058428	58428971	58429832	0.38	[{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 32.44}, {'connected_gene': 'PXK', 'score': 23.69}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'PDHB', 'score': 0.77}]