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
ENST00000201586	[[49055331, 49055580], [49079197, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102682]]	[[49055509, 49055580], [49079197, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102663]]
ENST00000323090	[[49078796, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102682]]	[[49079171, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102663]]
ENST00000594274	[[49094357, 49094530], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102531]]	None
ENST00000597923	[[49099042, 49100176], [49102391, 49102680]]	None
NM_177973	[[49055428, 49055580], [49079197, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102684]]	[[49055509, 49055580], [49079197, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102663]]
NM_004605	[[49078992, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102684]]	[[49079171, 49079340], [49090485, 49090694], [49094865, 49094992], [49095978, 49096073], [49099995, 49100176], [49102391, 49102663]]

Promoter

Chrom	Start	End	Description
chr19	49055390	49055410	CAGE_peak_2_at_SULT2B1_5end
chr19	49055416	49055451	CAGE_peak_1_at_SULT2B1_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	GH19I048264	48264486	48264764	0.48	[{'connected_gene': 'SULT2B1', 'score': 11.94}, {'connected_gene': 'TMEM143', 'score': 11.47}, {'connected_gene': 'SYNGR4', 'score': 11.47}, {'connected_gene': 'PLA2G4C', 'score': 10.52}, {'connected_gene': 'ELSPBP1', 'score': 10.06}, {'connected_gene': 'BSPH1', 'score': 10.06}, {'connected_gene': 'ZNF114', 'score': 5.05}, {'connected_gene': 'LOC105372429', 'score': 0.44}, {'connected_gene': 'CARD8', 'score': 0.44}]
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	GH19I048267	48267104	48267293	0.74	[{'connected_gene': 'SULT2B1', 'score': 11.94}, {'connected_gene': 'SYNGR4', 'score': 11.47}, {'connected_gene': 'TMEM143', 'score': 11.47}, {'connected_gene': 'BSPH1', 'score': 9.66}, {'connected_gene': 'ELSPBP1', 'score': 9.65}, {'connected_gene': 'ZNF114', 'score': 0.77}, {'connected_gene': 'LOC105372429', 'score': 0.77}, {'connected_gene': 'CARD8', 'score': 0.39}]
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	GH19I048540	48540093	48540716	0.74	[{'connected_gene': 'SULT2B1', 'score': 0.39}, {'connected_gene': 'LMTK3', 'score': 0.31}]
chr19	GH19I048549	48549564	48549693	0.57	[{'connected_gene': 'SULT2B1', 'score': 0.77}, {'connected_gene': 'LMTK3', 'score': 0.28}]
chr19	GH19I048539	48539800	48540001	0.94	[{'connected_gene': 'SNRNP70', 'score': 51.75}, {'connected_gene': 'SEC1P', 'score': 32.66}, {'connected_gene': 'BICRA', 'score': 27.81}, {'connected_gene': 'NOP53-AS1', 'score': 22.1}, {'connected_gene': 'BCAT2', 'score': 18.52}, {'connected_gene': 'CA11', 'score': 14.82}, {'connected_gene': 'RUVBL2', 'score': 14.82}, {'connected_gene': 'ENSG00000268093', 'score': 13.07}, {'connected_gene': 'ZSWIM9', 'score': 12.72}, {'connected_gene': 'DKKL1', 'score': 11.84}, {'connected_gene': 'GRWD1', 'score': 11.39}, {'connected_gene': 'RASIP1', 'score': 10.8}, {'connected_gene': 'TULP2', 'score': 10.76}, {'connected_gene': 'CYTH2', 'score': 10.51}, {'connected_gene': 'HSD17B14', 'score': 10.26}, {'connected_gene': 'SULT2B1', 'score': 0.39}, {'connected_gene': 'LMTK3', 'score': 0.31}]
chr19	GH19I049072	49072823	49074536	1.59	[{'connected_gene': 'KCNA7', 'score': 557.48}, {'connected_gene': 'NTF4', 'score': 18.24}, {'connected_gene': 'SNRNP70', 'score': 9.74}, {'connected_gene': 'CGB8', 'score': 7.88}, {'connected_gene': 'MAMSTR', 'score': 1.4}, {'connected_gene': 'SULT2B1', 'score': 1.39}, {'connected_gene': 'GC19P049082', 'score': 0.44}]
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	GH19I048545	48545058	48545873	0.69	[{'connected_gene': 'ENSG00000269814', 'score': 5.87}, {'connected_gene': 'SULT2B1', 'score': 0.44}, {'connected_gene': 'LMTK3', 'score': 0.29}]
chr19	GH19I048543	48543082	48543800	1.21	[{'connected_gene': 'ENSG00000269814', 'score': 5.08}, {'connected_gene': 'SULT2B1', 'score': 0.44}, {'connected_gene': 'LMTK3', 'score': 0.31}]