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
ENST00000298292	[[50091891, 50092766], [50094729, 50094873], [50100004, 50101948]]	[[50092259, 50092766], [50094729, 50094873], [50100004, 50101867]]
ENST00000406043	[[50091891, 50092766], [50100004, 50101948]]	[[50092259, 50092766], [50100004, 50101867]]
NM_018139	[[50091891, 50092766], [50094729, 50094873], [50100004, 50101948]]	[[50092259, 50092766], [50094729, 50094873], [50100004, 50101867]]
NM_001083908	[[50091891, 50092766], [50100004, 50101948]]	[[50092259, 50092766], [50100004, 50101867]]

Promoter

Chrom	Start	End	Description
chr14	50100665	50100741	CAGE_peak_1_at_DNAAF2_5end
chr14	50101898	50101922	CAGE_peak_3_at_DNAAF2_5end
chr14	50101931	50101969	CAGE_peak_4_at_DNAAF2_5end
chr14	50101970	50102002	CAGE_peak_7_at_DNAAF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I049969	49969069	49984538	1.71	[{'connected_gene': 'VCPKMT', 'score': 25.07}, {'connected_gene': 'LINC01588', 'score': 20.33}, {'connected_gene': 'RNU6-189P', 'score': 11.94}, {'connected_gene': 'RPL36AL', 'score': 6.4}, {'connected_gene': 'ARF6', 'score': 3.54}, {'connected_gene': 'NEMF', 'score': 3.1}, {'connected_gene': 'DNAAF2', 'score': 2.17}, {'connected_gene': 'ATP5S', 'score': 1.61}, {'connected_gene': 'RPS29', 'score': 1.59}, {'connected_gene': 'SOS2', 'score': 1.26}, {'connected_gene': 'GC14M049974', 'score': 0.77}, {'connected_gene': 'GC14M049971', 'score': 0.77}, {'connected_gene': 'GC14P049970', 'score': 0.44}, {'connected_gene': 'LOC105370485', 'score': 0.39}]
chr14	GH14I050095	50095379	50097671	0.95	[{'connected_gene': 'VCPKMT', 'score': 16.33}, {'connected_gene': 'RNU6-189P', 'score': 10.69}, {'connected_gene': 'SOS2', 'score': 10.38}, {'connected_gene': 'ATP5S', 'score': 9.71}, {'connected_gene': 'RPL36AL', 'score': 2.42}, {'connected_gene': 'ARF6', 'score': 2.11}, {'connected_gene': 'LINC01588', 'score': 1.97}, {'connected_gene': 'NEMF', 'score': 1.82}, {'connected_gene': 'DNAAF2', 'score': 1.6}, {'connected_gene': 'LINC01599', 'score': 0.77}]
chr14	GH14I049618	49618985	49625385	2.51	[{'connected_gene': 'RPL36AL', 'score': 599.22}, {'connected_gene': 'MGAT2', 'score': 552.16}, {'connected_gene': 'ENSG00000258377', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 37.19}, {'connected_gene': 'DNAAF2', 'score': 15.14}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.15}, {'connected_gene': 'VCPKMT', 'score': 10.05}, {'connected_gene': 'RHOQP1', 'score': 6.48}, {'connected_gene': 'KLHDC2', 'score': 2.49}, {'connected_gene': 'NEMF', 'score': 2.46}, {'connected_gene': 'ARF6', 'score': 2.41}, {'connected_gene': 'RPS29', 'score': 2.26}, {'connected_gene': 'KLHDC1', 'score': 1.74}, {'connected_gene': 'RPL36AP42', 'score': 0.77}]
chr14	GH14I050034	50034664	50042004	1.31	[{'connected_gene': 'KLHDC1', 'score': 13.81}, {'connected_gene': 'NEMF', 'score': 10.96}, {'connected_gene': 'DNAAF2', 'score': 9.74}, {'connected_gene': 'LINC01588', 'score': 5.12}, {'connected_gene': 'PDLIM1P1', 'score': 0.39}, {'connected_gene': 'GC14M050001', 'score': 0.28}]
chr14	GH14I049640	49640151	49642846	1.13	[{'connected_gene': 'LRR1', 'score': 18.45}, {'connected_gene': 'RHOQP1', 'score': 5.39}, {'connected_gene': 'RPL36AL', 'score': 4.51}, {'connected_gene': 'DNAAF2', 'score': 0.44}, {'connected_gene': 'GC14P049663', 'score': 0.34}]
chr14	GH14I050607	50607322	50609496	0.64	[{'connected_gene': 'MAP4K5', 'score': 17.58}, {'connected_gene': 'ATL1', 'score': 13.96}, {'connected_gene': 'KLHDC1', 'score': 13.78}, {'connected_gene': 'NEMF', 'score': 10.9}, {'connected_gene': 'ABHD12B', 'score': 10.04}, {'connected_gene': 'DNAAF2', 'score': 9.72}, {'connected_gene': 'NIN', 'score': 9.62}, {'connected_gene': 'TRIM9', 'score': 4.85}, {'connected_gene': 'RN7SL452P', 'score': 0.31}, {'connected_gene': 'SNRPGP1', 'score': 0.28}]
chr14	GH14I050080	50080660	50089596	1.57	[{'connected_gene': 'GC14P050088', 'score': 550.77}, {'connected_gene': 'ENSG00000251792', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 40.33}, {'connected_gene': 'RNU6-189P', 'score': 11.14}, {'connected_gene': 'DNAAF2', 'score': 10.72}, {'connected_gene': 'ATP5S', 'score': 9.0}, {'connected_gene': 'LINC01588', 'score': 4.03}, {'connected_gene': 'ARF6', 'score': 2.81}, {'connected_gene': 'KLHDC2', 'score': 2.48}, {'connected_gene': 'NEMF', 'score': 2.04}, {'connected_gene': 'SOS2', 'score': 1.96}, {'connected_gene': 'KLHDC1', 'score': 1.55}, {'connected_gene': 'RPL36AL', 'score': 1.44}, {'connected_gene': 'RPS29', 'score': 1.42}, {'connected_gene': 'LINC01599', 'score': 0.44}, {'connected_gene': 'RN7SKP193', 'score': 0.37}]
chr14	GH14I049631	49631543	49631692	0.64	[{'connected_gene': 'ENSG00000258450', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 35.43}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.17}, {'connected_gene': 'PIR31071', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.77}]
chr14	GH14I049630	49630601	49631200	0.49	[{'connected_gene': 'ENSG00000258450', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 34.8}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.17}, {'connected_gene': 'PIR31071', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.77}]
chr14	GH14I049632	49632000	49637013	2.28	[{'connected_gene': 'PIR31071', 'score': 550.77}, {'connected_gene': 'DNAAF2', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 45.58}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.17}, {'connected_gene': 'STK16P1', 'score': 5.82}, {'connected_gene': 'RHOQP1', 'score': 5.62}]
chr14	GH14I049660	49660143	49660392	0.79	[{'connected_gene': 'GC14P049663', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.31}, {'connected_gene': 'POLE2', 'score': 0.31}]
chr14	GH14I049659	49659783	49659932	0.38	[{'connected_gene': 'GC14P049663', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.34}, {'connected_gene': 'POLE2', 'score': 0.31}]
chr14	GH14I049860	49860010	49864578	2.1	[{'connected_gene': 'GC14M049865', 'score': 550.77}, {'connected_gene': 'GC14P049865', 'score': 550.77}, {'connected_gene': 'PIR56593', 'score': 550.77}, {'connected_gene': 'RN7SL2', 'score': 550.77}, {'connected_gene': 'GC14M049869', 'score': 550.77}, {'connected_gene': 'ENSG00000278002', 'score': 550.77}, {'connected_gene': 'KLHDC1', 'score': 74.86}, {'connected_gene': 'NEMF', 'score': 33.7}, {'connected_gene': 'MAP4K5', 'score': 21.69}, {'connected_gene': 'KLHDC2', 'score': 19.66}, {'connected_gene': 'VCPKMT', 'score': 14.91}, {'connected_gene': 'DNAAF2', 'score': 11.28}, {'connected_gene': 'LINC01588', 'score': 10.89}, {'connected_gene': 'LRR1', 'score': 4.52}, {'connected_gene': 'ARF6', 'score': 2.79}, {'connected_gene': 'RPL36AL', 'score': 1.74}, {'connected_gene': 'ENSG00000282885', 'score': 0.77}, {'connected_gene': 'LOC105378179', 'score': 0.44}, {'connected_gene': 'RN7SL3', 'score': 0.44}, {'connected_gene': 'GC14M049855', 'score': 0.44}]
chr14	GH14I050446	50446614	50448152	0.77	[{'connected_gene': 'ENSG00000259113', 'score': 555.08}, {'connected_gene': 'KLHDC1', 'score': 26.38}, {'connected_gene': 'NEMF', 'score': 19.21}, {'connected_gene': 'CDKL1', 'score': 12.59}, {'connected_gene': 'ATL1', 'score': 11.33}, {'connected_gene': 'MAP4K5', 'score': 11.29}, {'connected_gene': 'DNAAF2', 'score': 9.72}]