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
ENST00000298307	[[50234325, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175], [50249259, 50249312], [50249547, 50249909]]	[[50235186, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175], [50249259, 50249312], [50249547, 50249671]]
ENST00000555739	[[50234847, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246524], [50246930, 50247040], [50247420, 50247493], [50249259, 50249312], [50249547, 50249823]]	[[50235186, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246429]]
ENST00000554589	[[50234871, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175], [50249547, 50249829]]	[[50235186, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175], [50249547, 50249577]]
ENST00000555443	[[50234885, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175], [50249259, 50249312], [50249547, 50249833]]	[[50235186, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246429]]
ENST00000557247	[[50234885, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50249087, 50249175], [50249547, 50249840]]	[[50235186, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50249087, 50249128]]
ENST00000553538	[[50235518, 50235809], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977]]	None
ENST00000553703	[[50238309, 50238391], [50241278, 50241613]]	None
ENST00000557063	[[50244520, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246821]]	None
ENST00000556559	[[50244570, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175]]	None
ENST00000554115	[[50246932, 50247040], [50247420, 50247493], [50249087, 50249175], [50249259, 50249427]]	None
ENST00000553579	[[50247123, 50247493], [50249087, 50249175], [50249259, 50249312], [50249547, 50249636]]	None
NM_014315	[[50234786, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175], [50249259, 50249312], [50249547, 50249856]]	[[50235186, 50235339], [50238311, 50238391], [50241278, 50241396], [50244556, 50244672], [50244895, 50244977], [50245128, 50245212], [50246312, 50246393], [50246465, 50246524], [50246930, 50247040], [50247420, 50247493], [50249087, 50249175], [50249259, 50249312], [50249547, 50249671]]

Promoter

Chrom	Start	End	Description
chr14	50234166	50234170	CAGE_peak_6_at_KLHDC2_5end
chr14	50234309	50234330	CAGE_peak_5_at_KLHDC2_5end
chr14	50234370	50234434	CAGE_peak_2_at_KLHDC2_5end
chr14	50234799	50234818	CAGE_peak_4_at_KLHDC2_5end
chr14	50234827	50234882	CAGE_peak_1_at_KLHDC2_5end
chr14	50234910	50234921	CAGE_peak_3_at_KLHDC2_5end
chr14	50234971	50234978	CAGE_peak_10_at_KLHDC2_5end
chr14	50235132	50235143	CAGE_peak_7_at_KLHDC2_5end
chr14	50235519	50235558	CAGE_peak_17_at_KLHDC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I050059	50059583	50066522	1.77	[{'connected_gene': 'VCPKMT', 'score': 23.64}, {'connected_gene': 'LINC01588', 'score': 15.6}, {'connected_gene': 'KLHDC2', 'score': 12.81}, {'connected_gene': 'RNU6-189P', 'score': 10.71}, {'connected_gene': 'ATP5S', 'score': 8.74}, {'connected_gene': 'ARF6', 'score': 3.33}, {'connected_gene': 'RPL36AL', 'score': 2.15}, {'connected_gene': 'GC14P050069', 'score': 0.44}, {'connected_gene': 'RPS15AP2', 'score': 0.39}]
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	GH14I049583	49583799	49587814	2.08	[{'connected_gene': 'RN7SL1', 'score': 550.77}, {'connected_gene': 'PIR42644', 'score': 550.77}, {'connected_gene': 'GC14M049586', 'score': 550.77}, {'connected_gene': 'GC14P049610', 'score': 550.77}, {'connected_gene': 'ENSG00000283029', 'score': 550.77}, {'connected_gene': 'GC14M049587', 'score': 550.77}, {'connected_gene': 'RPS29', 'score': 550.39}, {'connected_gene': 'RPL36AL', 'score': 38.77}, {'connected_gene': 'LRR1', 'score': 33.34}, {'connected_gene': 'KLHDC1', 'score': 30.05}, {'connected_gene': 'KLHDC2', 'score': 19.59}, {'connected_gene': 'NEMF', 'score': 16.7}, {'connected_gene': 'MAP4K5', 'score': 12.77}, {'connected_gene': 'POLE2', 'score': 10.61}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'RPL32P29', 'score': 0.44}]
chr14	GH14I049686	49686401	49686600	0.31	[{'connected_gene': 'POLE2', 'score': 550.77}, {'connected_gene': 'RNU6ATAC30P', 'score': 550.77}, {'connected_gene': 'NEMF', 'score': 12.55}, {'connected_gene': 'KLHDC2', 'score': 11.06}, {'connected_gene': 'GC14P049663', 'score': 0.34}]
chr14	GH14I050319	50319040	50322539	1.7	[{'connected_gene': 'ATP5S', 'score': 33.59}, {'connected_gene': 'KLHDC2', 'score': 12.37}, {'connected_gene': 'NEMF', 'score': 10.62}, {'connected_gene': 'SAV1', 'score': 10.58}, {'connected_gene': 'MAP4K5', 'score': 10.15}, {'connected_gene': 'CDKL1', 'score': 4.5}, {'connected_gene': 'PIR33272', 'score': 0.77}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14	GH14I049766	49766465	49772156	2.52	[{'connected_gene': 'KLHDC2', 'score': 551.95}, {'connected_gene': 'RPL36AL', 'score': 13.61}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.82}, {'connected_gene': 'POLE2', 'score': 11.41}, {'connected_gene': 'KLHDC1', 'score': 11.12}, {'connected_gene': 'LRR1', 'score': 4.74}, {'connected_gene': 'GC14M049783', 'score': 0.39}]
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	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}]