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
ENST00000298288	[[50065414, 50065921], [50069087, 50069186], [50074117, 50074839], [50080973, 50081390]]	[[50065738, 50065921], [50069087, 50069186], [50074117, 50074839], [50080973, 50081214]]
ENST00000318317	[[50065478, 50065921], [50069087, 50069186], [50080973, 50081388]]	[[50065738, 50065921], [50069087, 50069186], [50080973, 50081132]]
ENST00000554869	[[50065492, 50065921], [50069087, 50069186], [50070269, 50070336], [50074117, 50074839], [50079189, 50079342], [50080973, 50081389]]	[[50065738, 50065921], [50069087, 50069186], [50070269, 50070336], [50074117, 50074170]]
ENST00000540712	[[50065669, 50065921], [50068259, 50068367], [50069087, 50069186], [50074117, 50074839], [50080973, 50081389]]	[[50065738, 50065921], [50068259, 50068271]]
ENST00000557531	[[50067129, 50067415], [50074117, 50074227]]	None
NM_203467	[[50065414, 50065921], [50069087, 50069186], [50080973, 50081390]]	[[50065738, 50065921], [50069087, 50069186], [50080973, 50081132]]
NM_152329	[[50065414, 50065921], [50069087, 50069186], [50074117, 50074839], [50080973, 50081390]]	[[50065738, 50065921], [50069087, 50069186], [50074117, 50074839], [50080973, 50081214]]
NR_037792	[[50065414, 50065921], [50069087, 50069186], [50070269, 50070336], [50074117, 50074839], [50079189, 50079342], [50080973, 50081390]]	None
NR_037793	[[50065414, 50065921], [50068259, 50068367], [50069087, 50069186], [50074117, 50074839], [50080973, 50081390]]	None

Promoter

Chrom	Start	End	Description
chr14	50065181	50065201	CAGE_peak_8_at_LRR1_5end
chr14	50065376	50065425	CAGE_peak_3_at_LRR1_5end
chr14	50065459	50065485	CAGE_peak_6_at_LRR1_5end
chr14	50065488	50065512	CAGE_peak_5_at_LRR1_5end
chr14	50065524	50065533	CAGE_peak_12_at_LRR1_5end
chr14	50065639	50065674	CAGE_peak_1_at_LRR1_5end
chr14	50065693	50065746	CAGE_peak_2_at_LRR1_5end
chr14	50065770	50065781	CAGE_peak_7_at_LRR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I049851	49851048	49854336	2.26	[{'connected_gene': 'NEMF', 'score': 550.77}, {'connected_gene': 'GC14M049855', 'score': 550.77}, {'connected_gene': 'RN7SL3', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 10.6}, {'connected_gene': 'ENSG00000282885', 'score': 5.87}, {'connected_gene': 'LRR1', 'score': 4.34}, {'connected_gene': 'RNU6-539P', 'score': 0.39}]
chr14	GH14I050115	50115388	50117732	2.24	[{'connected_gene': 'VCPKMT', 'score': 584.25}, {'connected_gene': 'RHOQP1', 'score': 11.26}, {'connected_gene': 'LRR1', 'score': 10.5}, {'connected_gene': 'ENSG00000270062', 'score': 10.3}, {'connected_gene': 'ATP5S', 'score': 6.17}, {'connected_gene': 'LINC01588', 'score': 0.34}, {'connected_gene': 'LINC01599', 'score': 0.34}, {'connected_gene': 'SOS2', 'score': 0.13}]
chr14	GH14I049848	49848787	49850857	0.75	[{'connected_gene': 'VCPKMT', 'score': 10.59}, {'connected_gene': 'RNU6ATAC30P', 'score': 10.16}, {'connected_gene': 'LRR1', 'score': 4.45}, {'connected_gene': 'NEMF', 'score': 0.77}, {'connected_gene': 'RNU6-539P', '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	GH14I049687	49687200	49689086	2.02	[{'connected_gene': 'POLE2', 'score': 550.77}, {'connected_gene': 'RHOQP1', 'score': 11.39}, {'connected_gene': 'VCPKMT', 'score': 10.83}, {'connected_gene': 'LRR1', 'score': 10.64}, {'connected_gene': 'RPL36AL', 'score': 4.62}, {'connected_gene': 'RNU6ATAC30P', 'score': 0.77}, {'connected_gene': 'GC14P049663', 'score': 0.31}]
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	GH14I050311	50311148	50313511	2.03	[{'connected_gene': 'ATP5S', 'score': 583.92}, {'connected_gene': 'L2HGDH', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 20.49}, {'connected_gene': 'RHOQP1', 'score': 11.25}, {'connected_gene': 'LRR1', 'score': 10.5}, {'connected_gene': 'ENSG00000270062', 'score': 10.32}, {'connected_gene': 'SOS2', 'score': 7.78}]
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	GH14I049691	49691324	49694201	1.99	[{'connected_gene': 'KLHDC1', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 4.33}, {'connected_gene': 'POLE2', 'score': 0.77}, {'connected_gene': 'GC14P049663', 'score': 0.31}]
chr14	GH14I049594	49593628	49601412	2.28	[{'connected_gene': 'LRR1', 'score': 591.07}, {'connected_gene': 'RPS29', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 55.36}, {'connected_gene': 'VCPKMT', 'score': 19.56}, {'connected_gene': 'RHOQP1', 'score': 15.47}, {'connected_gene': 'MGAT2', 'score': 12.91}, {'connected_gene': 'POLE2', 'score': 10.62}, {'connected_gene': 'ENSG00000278009', 'score': 0.77}, {'connected_gene': 'ENSG00000252919', 'score': 0.44}]
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	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	GH14I049553	49553831	49554362	0.2	[{'connected_gene': 'RNA5SP384', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 37.96}, {'connected_gene': 'LRR1', 'score': 26.53}, {'connected_gene': 'GC14M049579', 'score': 0.34}]
chr14	GH14I049616	49616680	49618692	0.6	[{'connected_gene': 'RPL36AP42', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 32.28}, {'connected_gene': 'LRR1', 'score': 27.52}, {'connected_gene': 'RHOQP1', 'score': 5.66}, {'connected_gene': 'ENSG00000278009', '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}]
chr14	GH14I049593	49593083	49593312	0.31	[{'connected_gene': 'ENSG00000252919', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 28.43}, {'connected_gene': 'MGAT2', 'score': 12.89}, {'connected_gene': 'RPL36AL', 'score': 12.89}, {'connected_gene': 'RHOQP1', 'score': 5.49}, {'connected_gene': 'RPS29', 'score': 0.44}]