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
ENST00000377648	[[6673744, 6674165], [6676816, 6676918], [6679862, 6680397], [6681470, 6684093]]	[[6674126, 6674165], [6676816, 6676918], [6679862, 6680397], [6681470, 6681697]]
ENST00000495385	[[6673821, 6674165], [6682251, 6682705]]	None
NM_153812	[[6673755, 6674165], [6676816, 6676918], [6679862, 6680397], [6681470, 6684093]]	[[6674126, 6674165], [6676816, 6676918], [6679862, 6680397], [6681470, 6681697]]

Promoter

Chrom	Start	End	Description
chr1	6673782	6673830	CAGE_peak_1_at_PHF13_5end
chr1	6673834	6673871	CAGE_peak_2_at_PHF13_5end
chr1	6673873	6673892	CAGE_peak_3_at_PHF13_5end
chr1	6676813	6676821	CAGE_peak_5_at_PHF13_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	GH01I006404	6404761	6404910	0.98	[{'connected_gene': 'THAP3', 'score': 131.34}, {'connected_gene': 'NOL9', 'score': 113.68}, {'connected_gene': 'RPL22', 'score': 38.11}, {'connected_gene': 'CAMTA1-DT', 'score': 29.32}, {'connected_gene': 'LOC102724450', 'score': 22.73}, {'connected_gene': 'PHF13', 'score': 21.95}, {'connected_gene': 'ZBTB48', 'score': 21.48}, {'connected_gene': 'CAMTA1', 'score': 19.37}, {'connected_gene': 'NPHP4', 'score': 19.31}, {'connected_gene': 'GC01M006398', 'score': 0.44}, {'connected_gene': 'HES2', '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	GH01I007498	7498389	7498665	0.72	[{'connected_gene': 'THAP3', 'score': 35.01}, {'connected_gene': 'SLC45A1', 'score': 28.12}, {'connected_gene': 'ENSG00000236266', 'score': 20.21}, {'connected_gene': 'NOL9', 'score': 19.07}, {'connected_gene': 'PHF13', 'score': 16.55}, {'connected_gene': 'PER3', 'score': 13.65}, {'connected_gene': 'CAMTA1', 'score': 11.79}, {'connected_gene': 'LOC105376691', 'score': 0.77}, {'connected_gene': 'GC01M007489', 'score': 0.44}]
chr1	GH01I006621	6621684	6626574	2.21	[{'connected_gene': 'THAP3', 'score': 573.8}, {'connected_gene': 'PIR49894', 'score': 550.77}, {'connected_gene': 'PIR36035', 'score': 550.77}, {'connected_gene': 'GC01M006623', 'score': 550.77}, {'connected_gene': 'GC01P006623', 'score': 550.77}, {'connected_gene': 'PIR43515', 'score': 550.77}, {'connected_gene': 'PIR33589', 'score': 550.77}, {'connected_gene': 'PIR42172', 'score': 550.77}, {'connected_gene': 'GC01P006622', 'score': 550.77}, {'connected_gene': 'PIR56637', 'score': 550.77}, {'connected_gene': 'ZBTB48', 'score': 4.94}, {'connected_gene': 'PHF13', 'score': 0.39}]
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	GH01I006422	6422737	6425891	1.62	[{'connected_gene': 'ESPN', 'score': 579.78}, {'connected_gene': 'HES2', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 14.15}, {'connected_gene': 'NOL9', 'score': 11.85}, {'connected_gene': 'RNF207', 'score': 10.7}, {'connected_gene': 'LOC102724450', 'score': 10.7}, {'connected_gene': 'RPL22', 'score': 10.7}, {'connected_gene': 'THAP3', 'score': 10.37}, {'connected_gene': 'ACOT7', 'score': 6.48}, {'connected_gene': 'GC01M006398', 'score': 0.34}]
chr1	GH01I006275	6275547	6277685	1.35	[{'connected_gene': 'ESPN', 'score': 12.58}, {'connected_gene': 'RNF207', 'score': 11.04}, {'connected_gene': 'GPR153', 'score': 2.04}, {'connected_gene': 'ZBTB48', 'score': 1.93}, {'connected_gene': 'PHF13', 'score': 1.38}, {'connected_gene': 'ACOT7', 'score': 1.28}, {'connected_gene': 'GC01P006262', 'score': 0.37}, {'connected_gene': 'ENSG00000271746', 'score': 0.13}]
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	GH01I006553	6553015	6555865	2.07	[{'connected_gene': 'NOL9', 'score': 550.77}, {'connected_gene': 'TAS1R1', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 25.71}, {'connected_gene': 'PLEKHG5', 'score': 16.5}, {'connected_gene': 'ZBTB48', 'score': 15.33}, {'connected_gene': 'PHF13', 'score': 10.83}, {'connected_gene': 'ENSG00000229519', '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	GH01I006204	6204261	6207175	2.27	[{'connected_gene': 'RNF207', 'score': 568.55}, {'connected_gene': 'LOC102724450', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 28.89}, {'connected_gene': 'PHF13', 'score': 14.11}, {'connected_gene': 'ZBTB48', 'score': 13.02}, {'connected_gene': 'RPL22', 'score': 12.2}, {'connected_gene': 'NOL9', 'score': 11.78}]
chr1	GH01I005917	5917661	5917810	0.94	[{'connected_gene': 'ZBTB48', 'score': 11.14}, {'connected_gene': 'PHF13', 'score': 9.96}, {'connected_gene': 'NPHP4', 'score': 7.8}, {'connected_gene': 'GC01M005892', 'score': 0.37}, {'connected_gene': 'KCNAB2', 'score': 0.19}]
chr1	GH01I005990	5990873	5995461	2.57	[{'connected_gene': 'NPHP4', 'score': 569.4}, {'connected_gene': 'KCNAB2', 'score': 557.84}, {'connected_gene': 'THAP3', 'score': 28.97}, {'connected_gene': 'TNFRSF25', 'score': 21.26}, {'connected_gene': 'PHF13', 'score': 21.1}, {'connected_gene': 'RPL22', 'score': 20.75}, {'connected_gene': 'ZBTB48', 'score': 19.93}, {'connected_gene': 'NOL9', 'score': 10.05}, {'connected_gene': 'CHD5', 'score': 3.38}, {'connected_gene': 'GC01M006038', 'score': 0.25}]
chr1	GH01I006783	6783404	6786971	2.06	[{'connected_gene': 'CAMTA1-DT', 'score': 550.77}, {'connected_gene': 'CAMTA1', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 21.17}, {'connected_gene': 'ZBTB48', 'score': 20.76}, {'connected_gene': 'NOL9', 'score': 9.75}]
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	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}]
chr1	GH01I006197	6197742	6200945	2.09	[{'connected_gene': 'GC01M006194', 'score': 550.77}, {'connected_gene': 'RPL22', 'score': 550.39}, {'connected_gene': 'PHF13', 'score': 31.47}, {'connected_gene': 'RNF207', 'score': 13.01}, {'connected_gene': 'NOL9', 'score': 11.79}, {'connected_gene': 'ZBTB48', 'score': 11.16}, {'connected_gene': 'THAP3', 'score': 10.33}]
chr1	GH01I006445	6445241	6445390	0.97	[{'connected_gene': 'ENSG00000231868', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 12.76}, {'connected_gene': 'MIR4252', 'score': 0.37}, {'connected_gene': 'ESPN', 'score': 0.34}]