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
ENST00000298316	[[50359809, 50359875], [50359973, 50361490]]	[[50360454, 50360982]]
NM_001663	[[50359735, 50359875], [50359973, 50363772]]	[[50360454, 50360982]]

Promoter

Chrom	Start	End	Description
chr14	50359705	50359733	CAGE_peak_3_at_ARF6_5end
chr14	50359737	50359748	CAGE_peak_5_at_ARF6_5end
chr14	50359773	50359850	CAGE_peak_1_at_ARF6_5end
chr14	50359906	50359913	CAGE_peak_13_at_ARF6_5end
chr14	50360215	50360247	CAGE_peak_4_at_ARF6_5end
chr14	50360253	50360273	CAGE_peak_12_at_ARF6_5end
chr14	50360356	50360379	CAGE_peak_10_at_ARF6_5end
chr14	50360664	50360751	CAGE_peak_7_at_ARF6_5end
chr14	50361127	50361150	CAGE_peak_9_at_ARF6_5end
chr14	50361192	50361198	CAGE_peak_2_at_ARF6_5end
chr14	50361279	50361293	CAGE_peak_8_at_ARF6_5end
chr14	50361495	50361522	CAGE_peak_15_at_ARF6_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	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	GH14I049879	49879103	49885266	1.62	[{'connected_gene': 'ARF6', 'score': 6.08}, {'connected_gene': 'LINC01588', 'score': 4.9}, {'connected_gene': 'LRR1', 'score': 4.13}, {'connected_gene': 'RPL36AL', 'score': 3.07}, {'connected_gene': 'MGAT2', 'score': 1.88}, {'connected_gene': 'SOS2', 'score': 1.11}, {'connected_gene': 'LOC105378179', 'score': 0.39}]
chr14	GH14I049891	49891304	49900216	2.28	[{'connected_gene': 'ARF6', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 22.73}, {'connected_gene': 'VCPKMT', 'score': 19.6}, {'connected_gene': 'RHOQP1', 'score': 11.29}, {'connected_gene': 'POLE2', 'score': 10.54}, {'connected_gene': 'ENSG00000270062', 'score': 10.29}, {'connected_gene': 'RPL36AL', 'score': 7.64}, {'connected_gene': 'ENSG00000282885', 'score': 5.26}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]
chr14	GH14I049887	49887786	49889133	0.52	[{'connected_gene': 'ARF6', 'score': 0.77}, {'connected_gene': 'LOC105378179', 'score': 0.34}]
chr14	GH14I050043	50043277	50048586	1.67	[{'connected_gene': 'LINC01588', 'score': 14.78}, {'connected_gene': 'VCPKMT', 'score': 11.31}, {'connected_gene': 'ATP5S', 'score': 6.27}, {'connected_gene': 'ARF6', 'score': 5.69}, {'connected_gene': 'ENSG00000259071', 'score': 5.22}, {'connected_gene': 'RPL36AL', 'score': 2.23}, {'connected_gene': 'SOS2', 'score': 1.5}, {'connected_gene': 'PDLIM1P1', 'score': 0.77}, {'connected_gene': 'GC14M050001', 'score': 0.26}]
chr14	GH14I050030	50030671	50032857	1.19	[{'connected_gene': 'LINC01588', 'score': 15.83}, {'connected_gene': 'VCPKMT', 'score': 11.27}, {'connected_gene': 'RNU6-189P', 'score': 11.02}, {'connected_gene': 'RPL36AL', 'score': 2.84}, {'connected_gene': 'ARF6', 'score': 2.56}, {'connected_gene': 'PDLIM1P1', 'score': 0.37}, {'connected_gene': 'GC14M050001', 'score': 0.31}]
chr14	GH14I049906	49906601	49909387	1.32	[{'connected_gene': 'LINC01588', 'score': 15.36}, {'connected_gene': 'RPL36AL', 'score': 6.13}, {'connected_gene': 'ARF6', 'score': 2.91}, {'connected_gene': 'LINC01599', 'score': 1.26}, {'connected_gene': 'MGAT2', 'score': 1.18}, {'connected_gene': 'ENSG00000274704', 'score': 0.44}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]
chr14	GH14I050020	50020972	50021992	1.05	[{'connected_gene': 'RNU6-189P', 'score': 11.11}, {'connected_gene': 'VCPKMT', 'score': 10.49}, {'connected_gene': 'LINC01588', 'score': 3.49}, {'connected_gene': 'ARF6', 'score': 1.73}, {'connected_gene': 'RPL36AL', 'score': 1.38}, {'connected_gene': 'GC14M050001', 'score': 0.37}, {'connected_gene': 'PDLIM1P1', 'score': 0.31}]
chr14	GH14I049867	49867327	49871032	1.76	[{'connected_gene': 'LOC105378179', 'score': 550.77}, {'connected_gene': 'LINC01588', 'score': 16.4}, {'connected_gene': 'VCPKMT', 'score': 14.03}, {'connected_gene': 'RNU6-189P', 'score': 11.98}, {'connected_gene': 'ARF6', 'score': 8.78}, {'connected_gene': 'RPL36AL', 'score': 7.48}, {'connected_gene': 'LRR1', 'score': 6.03}, {'connected_gene': 'SOS2', 'score': 2.96}, {'connected_gene': 'NEMF', 'score': 1.63}, {'connected_gene': 'MGAT2', 'score': 1.17}]
chr14	GH14I049997	49997251	50009919	1.81	[{'connected_gene': 'GC14M050001', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 15.59}, {'connected_gene': 'LINC01588', 'score': 13.49}, {'connected_gene': 'RNU6-189P', 'score': 11.95}, {'connected_gene': 'ARF6', 'score': 2.07}, {'connected_gene': 'RPL36AL', 'score': 1.51}, {'connected_gene': 'ATP5S', 'score': 1.33}, {'connected_gene': 'L2HGDH', 'score': 1.32}, {'connected_gene': 'RPS29', 'score': 1.26}, {'connected_gene': 'PDLIM1P1', 'score': 0.25}]
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	GH14I049910	49910945	49912631	1.38	[{'connected_gene': 'ENSG00000274704', 'score': 550.77}, {'connected_gene': 'ARF6', 'score': 7.5}, {'connected_gene': 'RPL36AL', 'score': 3.91}, {'connected_gene': 'LINC01588', 'score': 3.38}, {'connected_gene': 'MGAT2', 'score': 2.12}, {'connected_gene': 'SOS2', 'score': 1.23}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]
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}]