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
ENST00000368467	[[154897209, 154897741], [154898829, 154898959], [154901499, 154901652], [154904827, 154904891], [154909066, 154909467]]	[[154897604, 154897741], [154898829, 154898959], [154901499, 154901652], [154904827, 154904891], [154909066, 154909161]]
NM_001323011	[[154897207, 154897741], [154898829, 154898959], [154901499, 154901652], [154904827, 154904891], [154908870, 154908938]]	[[154897604, 154897741], [154898829, 154898959], [154901499, 154901652], [154904827, 154904891], [154908870, 154908923]]
NM_006556	[[154897207, 154897741], [154898829, 154898959], [154901499, 154901652], [154904827, 154904891], [154909066, 154909484]]	[[154897604, 154897741], [154898829, 154898959], [154901499, 154901652], [154904827, 154904891], [154909066, 154909161]]
NM_001323012	[[154897207, 154897741], [154898829, 154898959], [154901499, 154901652], [154904827, 154904891], [154915051, 154915126]]	[[154897604, 154897741], [154898829, 154898959], [154901499, 154901586]]

Promoter

Chrom	Start	End	Description
chr1	154909117	154909140	CAGE_peak_3_at_PMVK_5end
chr1	154909156	154909243	CAGE_peak_1_at_PMVK_5end
chr1	154909329	154909418	CAGE_peak_2_at_PMVK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I154931	154931204	154933403	1.23	[{'connected_gene': 'SHC1', 'score': 4.87}, {'connected_gene': 'RUSC1-AS1', 'score': 4.17}, {'connected_gene': 'LOC105371449', 'score': 0.44}, {'connected_gene': 'PMVK', 'score': 0.44}]
chr1	GH01I154940	154940001	154946025	1.7	[{'connected_gene': 'KCNN3', 'score': 20.78}, {'connected_gene': 'EFNA3', 'score': 5.39}, {'connected_gene': 'MSTO2P', 'score': 4.34}, {'connected_gene': 'RUSC1', 'score': 3.76}, {'connected_gene': 'PMVK', 'score': 2.71}, {'connected_gene': 'ADAR', 'score': 2.68}, {'connected_gene': 'CLK2', 'score': 1.72}, {'connected_gene': 'RUSC1-AS1', 'score': 1.31}, {'connected_gene': 'GC01M154946', 'score': 0.77}, {'connected_gene': 'ENSG00000270361', 'score': 0.44}, {'connected_gene': 'PBXIP1', 'score': 0.39}]
chr1	GH01I154857	154857951	154863620	2.08	[{'connected_gene': 'KCNN3', 'score': 563.59}, {'connected_gene': 'ADAR', 'score': 11.61}, {'connected_gene': 'PBXIP1', 'score': 7.54}, {'connected_gene': 'RUSC1', 'score': 5.66}, {'connected_gene': 'MUC1', 'score': 5.05}, {'connected_gene': 'FDPS', 'score': 4.49}, {'connected_gene': 'PMVK', 'score': 2.67}, {'connected_gene': 'RUSC1-AS1', 'score': 1.92}, {'connected_gene': 'CLK2', 'score': 1.53}, {'connected_gene': 'PIR50309', 'score': 0.28}]
chr1	GH01I154935	154935757	154939545	2.61	[{'connected_gene': 'ENSG00000270361', 'score': 550.77}, {'connected_gene': 'PMVK', 'score': 550.77}, {'connected_gene': 'GON4L', 'score': 49.33}, {'connected_gene': 'CLK2', 'score': 49.29}, {'connected_gene': 'KHDC4', 'score': 48.43}, {'connected_gene': 'ENSG00000271267', 'score': 38.28}, {'connected_gene': 'UBAP2L', 'score': 35.23}, {'connected_gene': 'THBS3', 'score': 31.03}, {'connected_gene': 'RUSC1-AS1', 'score': 30.29}, {'connected_gene': 'CRTC2', 'score': 29.35}, {'connected_gene': 'SHC1', 'score': 27.4}, {'connected_gene': 'CREB3L4', 'score': 21.71}, {'connected_gene': 'KRTCAP2', 'score': 18.19}, {'connected_gene': 'MSTO1', 'score': 13.38}, {'connected_gene': 'YY1AP1', 'score': 12.57}, {'connected_gene': 'MSTO2P', 'score': 11.75}, {'connected_gene': 'FLAD1', 'score': 11.56}, {'connected_gene': 'LOC101928120', 'score': 11.04}, {'connected_gene': 'RPS27', 'score': 10.57}, {'connected_gene': 'ASH1L', 'score': 9.89}, {'connected_gene': 'DPM3', 'score': 9.88}, {'connected_gene': 'SLC39A1', 'score': 9.71}, {'connected_gene': 'KCNN3', 'score': 9.44}, {'connected_gene': 'PBXIP1', 'score': 6.11}, {'connected_gene': 'MTX1', 'score': 1.51}, {'connected_gene': 'ADAR', 'score': 1.24}, {'connected_gene': 'GC01M154946', 'score': 0.44}]