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
ENST00000377658	[[6650783, 6653718], [6655544, 6655617], [6659106, 6659512], [6661856, 6662929]]	[[6653424, 6653718], [6655544, 6655617], [6659106, 6659512], [6661856, 6662877]]
ENST00000377663	[[6650783, 6655617], [6659106, 6659512], [6661856, 6663061]]	[[6655424, 6655617], [6659106, 6659512], [6661856, 6662877]]
ENST00000467612	[[6653252, 6653718], [6655544, 6655617], [6659106, 6659512], [6674509, 6674620]]	[[6653424, 6653718], [6655544, 6655617], [6659106, 6659432]]
ENST00000496707	[[6653440, 6653718], [6655544, 6655617], [6659106, 6659512], [6659809, 6659876]]	[[6653440, 6653718], [6655544, 6655617], [6659106, 6659432]]
ENST00000463043	[[6654140, 6654170], [6655544, 6655617], [6659106, 6659512], [6674509, 6674667]]	[[6654167, 6654170], [6655544, 6655617], [6659106, 6659432]]
NM_001324309	[[6650783, 6654170], [6655544, 6655617], [6659106, 6659512], [6661856, 6662958]]	[[6654167, 6654170], [6655544, 6655617], [6659106, 6659512], [6661856, 6662877]]
NM_014851	[[6650783, 6653718], [6655544, 6655617], [6659106, 6659512], [6661856, 6662958]]	[[6653424, 6653718], [6655544, 6655617], [6659106, 6659512], [6661856, 6662877]]

Promoter

Chrom	Start	End	Description
chr1	6659896	6659939	CAGE_peak_5_at_KLHL21_5end
chr1	6662919	6662936	CAGE_peak_1_at_KLHL21_5end
chr1	6663744	6663762	CAGE_peak_3_at_KLHL21_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I006598	6598774	6605649	2.65	[{'connected_gene': 'KLHL21', 'score': 579.98}, {'connected_gene': 'PIR47122', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 40.05}, {'connected_gene': 'RPL22', 'score': 27.12}, {'connected_gene': 'ZBTB48', 'score': 14.33}, {'connected_gene': 'NOL9', 'score': 11.77}, {'connected_gene': 'PHF13', 'score': 10.33}, {'connected_gene': 'PIR44711', 'score': 0.44}]
chr1	GH01I006609	6609243	6616028	2.46	[{'connected_gene': 'KLHL21', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 550.77}, {'connected_gene': 'PIR56319', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 11.52}]
chr1	GH01I006596	6596301	6598379	0.56	[{'connected_gene': 'THAP3', 'score': 10.75}, {'connected_gene': 'PLEKHG5', 'score': 5.05}, {'connected_gene': 'PIR44711', 'score': 0.77}, {'connected_gene': 'PIR47122', 'score': 0.44}, {'connected_gene': 'KLHL21', 'score': 0.37}]
chr1	GH01I006649	6649029	6649161	0.34	[{'connected_gene': 'THAP3', 'score': 12.09}, {'connected_gene': 'DNAJC11', 'score': 11.13}, {'connected_gene': 'KLHL21', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.99}, {'connected_gene': 'GC01M006638', 'score': 0.44}]
chr1	GH01I006523	6523681	6523850	0.72	[{'connected_gene': 'THAP3', 'score': 10.63}, {'connected_gene': 'PHF13', 'score': 9.92}, {'connected_gene': 'KLHL21', 'score': 9.92}, {'connected_gene': 'PLEKHG5', 'score': 0.77}, {'connected_gene': 'RNU6-731P', 'score': 0.37}, {'connected_gene': 'NOL9', 'score': 0.29}]
chr1	GH01I006587	6587455	6588994	0.58	[{'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'KLHL21', 'score': 12.52}, {'connected_gene': 'PHF13', 'score': 12.52}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'THAP3', 'score': 11.55}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'GC01M006590', 'score': 0.77}, {'connected_gene': 'ZBTB48', 'score': 0.44}]
chr1	GH01I006527	6527340	6529974	0.31	[{'connected_gene': 'NOL9', 'score': 20.02}, {'connected_gene': 'PLEKHG5', 'score': 18.82}, {'connected_gene': 'TAS1R1', 'score': 11.74}, {'connected_gene': 'KLHL21', 'score': 11.0}, {'connected_gene': 'PHF13', 'score': 11.0}, {'connected_gene': 'RNU6-731P', 'score': 0.39}]
chr1	GH01I006487	6487571	6493544	2.42	[{'connected_gene': 'PLEKHG5', 'score': 599.25}, {'connected_gene': 'THAP3', 'score': 22.14}, {'connected_gene': 'TNFRSF25', 'score': 20.8}, {'connected_gene': 'NOL9', 'score': 13.57}, {'connected_gene': 'KLHL21', 'score': 10.64}, {'connected_gene': 'PHF13', 'score': 10.64}, {'connected_gene': 'ESPN', 'score': 7.18}]
chr1	GH01I006700	6700363	6702470	2.1	[{'connected_gene': 'DNAJC11', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 36.43}, {'connected_gene': 'ZBTB48', 'score': 30.38}, {'connected_gene': 'NOL9', 'score': 18.15}, {'connected_gene': 'RPL22', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.78}, {'connected_gene': 'KLHL21', 'score': 10.19}, {'connected_gene': 'GC01M006638', 'score': 0.21}]
chr1	GH01I006599	6598401	6598600	0.58	[{'connected_gene': 'PIR47122', 'score': 0.77}, {'connected_gene': 'PIR44711', 'score': 0.77}, {'connected_gene': 'KLHL21', 'score': 0.37}]
chr1	GH01I006591	6591553	6591733	0.4	[{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'PIR58337', 'score': 550.77}, {'connected_gene': 'PIR49591', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 21.36}, {'connected_gene': 'KLHL21', 'score': 13.06}, {'connected_gene': 'PHF13', 'score': 13.06}]
chr1	GH01I006592	6592348	6592948	0.49	[{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'PIR58337', 'score': 550.77}, {'connected_gene': 'PIR49591', 'score': 550.77}, {'connected_gene': 'PIR44711', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 21.84}, {'connected_gene': 'KLHL21', 'score': 13.06}, {'connected_gene': 'PHF13', 'score': 13.06}]
chr1	GH01I006594	6594730	6595887	0.43	[{'connected_gene': 'PIR44711', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 13.37}, {'connected_gene': 'PIR47122', 'score': 0.44}, {'connected_gene': 'KLHL21', 'score': 0.37}]
chr1	GH01I006589	6589051	6589856	0.74	[{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 16.51}, {'connected_gene': 'PHF13', 'score': 13.06}, {'connected_gene': 'KLHL21', 'score': 13.03}, {'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'ZBTB48', 'score': 0.44}]