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
ENST00000421362	[[35041091, 35041153], [35042407, 35042482], [35042857, 35045979]]	[[35041141, 35041153], [35042407, 35042482], [35042857, 35045866]]
ENST00000354479	[[35041091, 35041153], [35042857, 35045979]]	[[35041141, 35041153], [35042857, 35045866]]
ENST00000534880	[[35041138, 35041437], [35042857, 35043137]]	[[35043097, 35043137]]
ENST00000537671	[[35041146, 35041437], [35042407, 35042482], [35042857, 35042886]]	[[35042467, 35042482], [35042857, 35042886]]
ENST00000312292	[[35042204, 35042482], [35042857, 35045988]]	[[35042251, 35042482], [35042857, 35045866]]
ENST00000378745	[[35042209, 35042377], [35042857, 35043499]]	[[35042251, 35042377], [35042857, 35043499]]
ENST00000416537	[[35042468, 35042562], [35042857, 35043334]]	[[35042468, 35042497]]
NM_001040411	[[35041091, 35041153], [35042857, 35045988]]	[[35041141, 35041153], [35042857, 35045866]]
NM_001040412	[[35041091, 35041153], [35042407, 35042482], [35042857, 35045988]]	[[35041141, 35041153], [35042407, 35042482], [35042857, 35045866]]
NM_001040410	[[35042204, 35042377], [35042857, 35045988]]	[[35042251, 35042377], [35042857, 35045866]]
NM_203299	[[35042204, 35042482], [35042857, 35045988]]	[[35042251, 35042482], [35042857, 35045866]]
NM_001287391	[[35042468, 35042562], [35042857, 35045988]]	[[35042550, 35042562], [35042857, 35045866]]

Promoter

Chrom	Start	End	Description
chr9	35042222	35042266	CAGE_peak_1_at_C9orf131_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I035025	35025240	35029304	1.03	[{'connected_gene': 'PIGO', 'score': 27.6}, {'connected_gene': 'FANCG', 'score': 22.71}, {'connected_gene': 'TMEM8B', 'score': 14.67}, {'connected_gene': 'DNAJB5', 'score': 11.7}, {'connected_gene': 'ENSG00000230074', 'score': 10.67}, {'connected_gene': 'SPAG8', 'score': 10.57}, {'connected_gene': 'PHF24', 'score': 10.43}, {'connected_gene': 'STOML2', 'score': 10.0}, {'connected_gene': 'ENSG00000234181', 'score': 9.91}, {'connected_gene': 'CREB3', 'score': 9.77}, {'connected_gene': 'VCP', 'score': 8.43}, {'connected_gene': 'LOC105376025', 'score': 0.77}, {'connected_gene': 'C9orf131', 'score': 0.39}]
chr9	GH09I035069	35069847	35073942	2.24	[{'connected_gene': 'VCP', 'score': 575.72}, {'connected_gene': 'FANCG', 'score': 15.01}, {'connected_gene': 'TMEM8B', 'score': 14.68}, {'connected_gene': 'FAM205A', 'score': 11.94}, {'connected_gene': 'C9orf131', 'score': 10.97}, {'connected_gene': 'ENSG00000228352', 'score': 10.82}, {'connected_gene': 'ATP8B5P', 'score': 10.33}, {'connected_gene': 'PIGO', 'score': 10.18}, {'connected_gene': 'NPR2', 'score': 9.92}, {'connected_gene': 'RN7SL338P', 'score': 0.34}]
chr9	GH09I035813	35813125	35816200	2.06	[{'connected_gene': 'TMEM8B', 'score': 571.64}, {'connected_gene': 'HINT2', 'score': 550.77}, {'connected_gene': 'HMGB3P24', 'score': 13.0}, {'connected_gene': 'RNF38', 'score': 12.37}, {'connected_gene': 'SPAG8', 'score': 11.31}, {'connected_gene': 'C9orf131', 'score': 10.71}, {'connected_gene': 'ATP8B5P', 'score': 10.32}, {'connected_gene': 'VCP', 'score': 10.08}, {'connected_gene': 'CREB3', 'score': 9.92}]
chr9	GH09I034327	34327276	34330801	2.05	[{'connected_gene': 'NUDT2', 'score': 594.36}, {'connected_gene': 'KIF24', 'score': 559.83}, {'connected_gene': 'UBAP2', 'score': 25.62}, {'connected_gene': 'ENSG00000228352', 'score': 25.4}, {'connected_gene': 'NOL6', 'score': 20.02}, {'connected_gene': 'PIGO', 'score': 19.81}, {'connected_gene': 'FAM205A', 'score': 11.93}, {'connected_gene': 'C9orf131', 'score': 10.71}, {'connected_gene': 'UNC13B', 'score': 10.65}, {'connected_gene': 'VCP', 'score': 10.08}, {'connected_gene': 'FANCG', 'score': 7.89}, {'connected_gene': 'UBAP1', 'score': 5.8}, {'connected_gene': 'SERPINH1P1', 'score': 0.39}]
chr9	GH09I034987	34987964	34998595	2.46	[{'connected_gene': 'DNAJB5', 'score': 557.09}, {'connected_gene': 'UBAP2', 'score': 25.58}, {'connected_gene': 'VCP', 'score': 20.65}, {'connected_gene': 'FANCG', 'score': 16.22}, {'connected_gene': 'PIGO', 'score': 12.05}, {'connected_gene': 'FAM205A', 'score': 11.95}, {'connected_gene': 'C9orf131', 'score': 10.93}, {'connected_gene': 'ATP8B5P', 'score': 10.32}, {'connected_gene': 'RPP25L', 'score': 6.57}, {'connected_gene': 'FAM205C', 'score': 5.24}, {'connected_gene': 'IL11RA', 'score': 4.45}, {'connected_gene': 'GC09P034997', 'score': 0.77}, {'connected_gene': 'DNAJB5-AS1', 'score': 0.77}]
chr9	GH09I035042	35041046	35041105	0.5	[{'connected_gene': 'C9orf131', 'score': 550.77}, {'connected_gene': 'ENSG00000279608', 'score': 0.77}, {'connected_gene': 'LOC105376025', 'score': 0.37}]
chr9	GH09I035035	35035844	35036966	0.63	[{'connected_gene': 'C9orf131', 'score': 0.77}, {'connected_gene': 'LOC105376025', 'score': 0.39}]
chr9	GH09I035041	35041969	35042734	1.14	[{'connected_gene': 'C9orf131', 'score': 550.77}, {'connected_gene': 'ENSG00000279608', 'score': 550.77}]
chr9	GH09I034619	34619619	34621153	1.88	[{'connected_gene': 'DCTN3', 'score': 550.77}, {'connected_gene': 'UBAP2', 'score': 25.59}, {'connected_gene': 'FAM205A', 'score': 12.03}, {'connected_gene': 'RPP25L', 'score': 11.83}, {'connected_gene': 'C9orf131', 'score': 10.73}, {'connected_gene': 'ATP8B5P', 'score': 10.3}, {'connected_gene': 'VCP', 'score': 10.1}, {'connected_gene': 'SIGMAR1', 'score': 6.85}]
chr9	GH09I035710	35710442	35712365	0.49	[{'connected_gene': 'MIR6852', 'score': 550.77}, {'connected_gene': 'TPM2', 'score': 30.46}, {'connected_gene': 'RNF38', 'score': 12.37}, {'connected_gene': 'FAM205A', 'score': 11.91}, {'connected_gene': 'C9orf131', 'score': 10.71}, {'connected_gene': 'ATP8B5P', 'score': 10.33}, {'connected_gene': 'CREB3', 'score': 0.34}, {'connected_gene': 'TLN1', 'score': 0.34}]
chr9	GH09I034999	34999528	35002529	1.18	[{'connected_gene': 'LOC100420114', 'score': 550.77}, {'connected_gene': 'ENSG00000279489', 'score': 550.77}, {'connected_gene': 'VCP', 'score': 20.7}, {'connected_gene': 'FANCG', 'score': 15.64}, {'connected_gene': 'C9orf131', 'score': 11.44}, {'connected_gene': 'PHF24', 'score': 10.89}, {'connected_gene': 'ENSG00000234181', 'score': 10.48}, {'connected_gene': 'PIGO', 'score': 10.48}, {'connected_gene': 'STOML2', 'score': 10.47}, {'connected_gene': 'GC09P034997', 'score': 0.77}]
chr9	GH09I035044	35044184	35044353	0.31	[{'connected_gene': 'ENSG00000279608', 'score': 550.77}, {'connected_gene': 'VCP', 'score': 12.0}, {'connected_gene': 'FANCG', 'score': 11.96}, {'connected_gene': 'ENSG00000234181', 'score': 10.97}, {'connected_gene': 'PIGO', 'score': 10.97}, {'connected_gene': 'STOML2', 'score': 10.96}, {'connected_gene': 'PHF24', 'score': 10.26}, {'connected_gene': 'C9orf131', 'score': 0.77}]