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
ENST00000321762	[[49109999, 49110970]]	[[49110235, 49110610]]
NM_133498	[[49109999, 49110971]]	[[49110235, 49110610]]

Promoter

Chrom	Start	End	Description
chr19	49109990	49110007	CAGE_peak_1_at_SPACA4_5end
chr19	49110040	49110041	CAGE_peak_2_at_SPACA4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I048588	48588601	48589813	1.73	[{'connected_gene': 'GRWD1', 'score': 33.13}, {'connected_gene': 'BICRA', 'score': 27.98}, {'connected_gene': 'NOP53-AS1', 'score': 25.82}, {'connected_gene': 'SULT2B1', 'score': 18.97}, {'connected_gene': 'SNORD35A', 'score': 13.89}, {'connected_gene': 'KDELR1', 'score': 13.65}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'ALDH16A1', 'score': 13.04}, {'connected_gene': 'SNRNP70', 'score': 12.43}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'EHD2', 'score': 11.95}, {'connected_gene': 'NOP53', 'score': 11.74}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'FLT3LG', 'score': 10.83}, {'connected_gene': 'RPS11', 'score': 10.7}, {'connected_gene': 'SNORD35B', 'score': 10.36}, {'connected_gene': 'RPL13A', 'score': 10.33}, {'connected_gene': 'CYTH2', 'score': 9.84}, {'connected_gene': 'RASIP1', 'score': 9.76}, {'connected_gene': 'PIH1D1', 'score': 9.74}, {'connected_gene': 'FUT2', 'score': 4.79}, {'connected_gene': 'NTN5', 'score': 4.77}, {'connected_gene': 'SPHK2', 'score': 2.61}, {'connected_gene': 'BCAT2', 'score': 2.54}, {'connected_gene': 'CA11', 'score': 1.94}, {'connected_gene': 'KCNJ14', 'score': 1.91}, {'connected_gene': 'DBP', 'score': 1.5}, {'connected_gene': 'MAMSTR', 'score': 1.49}, {'connected_gene': 'TMEM143', 'score': 1.43}, {'connected_gene': 'SPACA4', 'score': 0.37}]
chr19	GH19I048586	48586131	48586911	0.49	[{'connected_gene': 'SULT2B1', 'score': 5.5}, {'connected_gene': 'NUCB1', 'score': 5.32}, {'connected_gene': 'SPACA4', 'score': 0.34}]
chr19	GH19I048551	48551547	48557331	1.92	[{'connected_gene': 'SULT2B1', 'score': 550.77}, {'connected_gene': 'SNORD35A', 'score': 31.23}, {'connected_gene': 'SNORD35B', 'score': 29.93}, {'connected_gene': 'BICRA', 'score': 28.21}, {'connected_gene': 'ALDH16A1', 'score': 27.7}, {'connected_gene': 'KDELR1', 'score': 22.57}, {'connected_gene': 'GRWD1', 'score': 22.22}, {'connected_gene': 'SNRNP70', 'score': 15.0}, {'connected_gene': 'PIH1D1', 'score': 13.51}, {'connected_gene': 'RPS11', 'score': 13.45}, {'connected_gene': 'NOP53', 'score': 13.39}, {'connected_gene': 'RPL18', 'score': 13.04}, {'connected_gene': 'RPL13A', 'score': 12.85}, {'connected_gene': 'NOP53-AS1', 'score': 12.62}, {'connected_gene': 'BAX', 'score': 10.67}, {'connected_gene': 'SNORD23', 'score': 10.4}, {'connected_gene': 'ZNF541', 'score': 5.6}, {'connected_gene': 'ENSG00000269814', 'score': 4.96}, {'connected_gene': 'SPACA4', 'score': 0.23}]
chr19	GH19I048563	48563114	48564127	1.14	[{'connected_gene': 'SULT2B1', 'score': 17.31}, {'connected_gene': 'FLT3LG', 'score': 10.35}, {'connected_gene': 'FCGRT', 'score': 10.09}, {'connected_gene': 'CYTH2', 'score': 5.54}, {'connected_gene': 'SPACA4', 'score': 0.26}]
chr19	GH19I048571	48571484	48571633	0.64	[{'connected_gene': 'SULT2B1', 'score': 25.2}, {'connected_gene': 'SPACA4', 'score': 0.28}]
chr19	GH19I048572	48572974	48573993	0.74	[{'connected_gene': 'SULT2B1', 'score': 21.71}, {'connected_gene': 'SPACA4', 'score': 0.29}]
chr19	GH19I048565	48565124	48565293	1.04	[{'connected_gene': 'SULT2B1', 'score': 0.39}, {'connected_gene': 'SPACA4', 'score': 0.26}]
chr19	GH19I048574	48574060	48575413	1.38	[{'connected_gene': 'SULT2B1', 'score': 21.85}, {'connected_gene': 'SPACA4', 'score': 0.29}]
chr19	GH19I048567	48567598	48569186	1.3	[{'connected_gene': 'SULT2B1', 'score': 24.06}, {'connected_gene': 'SPACA4', 'score': 0.28}]
chr19	GH19I048569	48569984	48570149	0.87	[{'connected_gene': 'SULT2B1', 'score': 0.37}, {'connected_gene': 'SPACA4', 'score': 0.28}]
chr19	GH19I048582	48582284	48582473	0.31	[{'connected_gene': 'SULT2B1', 'score': 7.83}, {'connected_gene': 'SPACA4', 'score': 0.34}]
chr19	GH19I048632	48632573	48640380	2.53	[{'connected_gene': 'SEC1P', 'score': 565.95}, {'connected_gene': 'DBP', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 77.4}, {'connected_gene': 'SNRNP70', 'score': 73.45}, {'connected_gene': 'GRWD1', 'score': 45.29}, {'connected_gene': 'PIH1D1', 'score': 38.64}, {'connected_gene': 'ENSG00000268093', 'score': 36.85}, {'connected_gene': 'SNORD35A', 'score': 35.5}, {'connected_gene': 'RPS11', 'score': 34.42}, {'connected_gene': 'NOP53-AS1', 'score': 34.02}, {'connected_gene': 'NOP53', 'score': 33.49}, {'connected_gene': 'RPL18', 'score': 33.44}, {'connected_gene': 'ALDH16A1', 'score': 33.3}, {'connected_gene': 'RPL13A', 'score': 33.01}, {'connected_gene': 'SNORD35B', 'score': 32.75}, {'connected_gene': 'KDELR1', 'score': 32.12}, {'connected_gene': 'EHD2', 'score': 22.43}, {'connected_gene': 'FAM83E', 'score': 18.2}, {'connected_gene': 'SNORD23', 'score': 12.9}, {'connected_gene': 'SPACA4', 'score': 12.49}, {'connected_gene': 'NTN5', 'score': 11.84}, {'connected_gene': 'NOSIP', 'score': 11.35}, {'connected_gene': 'BAX', 'score': 11.34}, {'connected_gene': 'RUVBL2', 'score': 11.14}, {'connected_gene': 'BCAT2', 'score': 11.02}, {'connected_gene': 'DKKL1', 'score': 10.84}, {'connected_gene': 'FUT2', 'score': 10.73}, {'connected_gene': 'MAMSTR', 'score': 10.68}, {'connected_gene': 'SLC6A16', 'score': 10.08}, {'connected_gene': 'FLT3LG', 'score': 9.92}, {'connected_gene': 'RASIP1', 'score': 9.81}, {'connected_gene': 'CA11', 'score': 0.44}]
chr19	GH19I048608	48608631	48609356	1.02	[{'connected_gene': 'SEC1P', 'score': 9.19}, {'connected_gene': 'SPACA4', 'score': 8.04}, {'connected_gene': 'FAM83E', 'score': 6.04}]
chr19	GH19I048583	48583786	48584953	1.43	[{'connected_gene': 'BICRA', 'score': 15.36}, {'connected_gene': 'SULT2B1', 'score': 13.19}, {'connected_gene': 'GRWD1', 'score': 12.6}, {'connected_gene': 'SNORD35A', 'score': 12.24}, {'connected_gene': 'RASIP1', 'score': 10.99}, {'connected_gene': 'SNORD35B', 'score': 10.49}, {'connected_gene': 'ALDH16A1', 'score': 10.23}, {'connected_gene': 'SPACA4', 'score': 0.34}]
chr19	GH19I048557	48557764	48559888	1.37	[{'connected_gene': 'GRIN2D', 'score': 5.67}, {'connected_gene': 'CARD8-AS1', 'score': 5.11}, {'connected_gene': 'ENSG00000268093', 'score': 4.77}, {'connected_gene': 'LIG1', 'score': 4.29}, {'connected_gene': 'SULT2B1', 'score': 0.44}, {'connected_gene': 'SPACA4', 'score': 0.25}]
chr19	GH19I048561	48561469	48562016	0.43	[{'connected_gene': 'SNORD35A', 'score': 13.21}, {'connected_gene': 'BICRA', 'score': 12.93}, {'connected_gene': 'SNORD35B', 'score': 11.24}, {'connected_gene': 'GRWD1', 'score': 10.86}, {'connected_gene': 'ALDH16A1', 'score': 9.9}, {'connected_gene': 'SNRNP70', 'score': 9.75}, {'connected_gene': 'SULT2B1', 'score': 9.03}, {'connected_gene': 'SPACA4', 'score': 0.25}]
chr19	GH19I048596	48596801	48597000	0.49	[{'connected_gene': 'SPACA4', 'score': 0.44}, {'connected_gene': 'SULT2B1', 'score': 0.26}]
chr19	GH19I048597	48597184	48597333	0.56	[{'connected_gene': 'SPACA4', 'score': 0.44}, {'connected_gene': 'SULT2B1', 'score': 0.25}]
chr19	GH19I048601	48601331	48603203	0.64	[{'connected_gene': 'SPACA4', 'score': 10.28}, {'connected_gene': 'FAM83E', 'score': 0.39}, {'connected_gene': 'SULT2B1', 'score': 0.23}]
chr19	GH19I048606	48606693	48606752	0.73	[{'connected_gene': 'SPACA4', 'score': 550.77}, {'connected_gene': 'FAM83E', 'score': 0.44}, {'connected_gene': 'SULT2B1', 'score': 0.23}]
chr19	GH19I048628	48628922	48632028	1.19	[{'connected_gene': 'SPACA4', 'score': 19.76}, {'connected_gene': 'FUT2', 'score': 11.25}, {'connected_gene': 'MAMSTR', 'score': 11.21}, {'connected_gene': 'SEC1P', 'score': 5.85}, {'connected_gene': 'DBP', 'score': 0.44}, {'connected_gene': 'ENSG00000268093', 'score': 0.44}, {'connected_gene': 'SPHK2', 'score': 0.39}]
chr19	GH19I048145	48145718	48145873	0.34	[{'connected_gene': 'ENSG00000269321', 'score': 550.77}, {'connected_gene': 'SPACA4', 'score': 50.46}, {'connected_gene': 'SYNGR4', 'score': 43.73}, {'connected_gene': 'PLA2G4C', 'score': 10.56}, {'connected_gene': 'LIG1', 'score': 0.34}, {'connected_gene': 'ENSG00000269534', 'score': 0.31}]