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
ENST00000246792	[[50138548, 50138917], [50138990, 50139109], [50139875, 50139984], [50140080, 50140183], [50140299, 50140387], [50143202, 50143458]]	[[50138832, 50138917], [50138990, 50139109], [50139875, 50139984], [50140080, 50140183], [50140299, 50140387], [50143202, 50143355]]
ENST00000601532	[[50139068, 50139109], [50139875, 50139984], [50140080, 50140387], [50143202, 50143379]]	None
NM_006270	[[50138548, 50138917], [50138990, 50139109], [50139875, 50139984], [50140080, 50140183], [50140299, 50140387], [50143202, 50143400]]	[[50138832, 50138917], [50138990, 50139109], [50139875, 50139984], [50140080, 50140183], [50140299, 50140387], [50143202, 50143355]]

Promoter

Chrom	Start	End	Description
chr19	50143268	50143279	CAGE_peak_3_at_RRAS_5end
chr19	50143346	50143409	CAGE_peak_1_at_RRAS_5end
chr19	50143452	50143468	CAGE_peak_2_at_RRAS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I049637	49637475	49643832	2.61	[{'connected_gene': 'RRAS', 'score': 552.96}, {'connected_gene': 'SCAF1', 'score': 550.77}, {'connected_gene': 'PTOV1-AS2', 'score': 29.6}, {'connected_gene': 'POLD1', 'score': 28.92}, {'connected_gene': 'PRR12', 'score': 28.47}, {'connected_gene': 'SNORD35A', 'score': 28.26}, {'connected_gene': 'NUP62', 'score': 26.63}, {'connected_gene': 'ALDH16A1', 'score': 26.57}, {'connected_gene': 'SNORD35B', 'score': 25.96}, {'connected_gene': 'IRF3', 'score': 25.82}, {'connected_gene': 'PNKP', 'score': 25.82}, {'connected_gene': 'SNRNP70', 'score': 21.92}, {'connected_gene': 'PIH1D1', 'score': 18.74}, {'connected_gene': 'RPL13A', 'score': 14.75}, {'connected_gene': 'RPS11', 'score': 13.2}, {'connected_gene': 'PRMT1', 'score': 11.05}, {'connected_gene': 'ADM5', 'score': 11.02}, {'connected_gene': 'CPT1C', 'score': 11.0}, {'connected_gene': 'BCAT2', 'score': 10.95}, {'connected_gene': 'BAX', 'score': 10.64}, {'connected_gene': 'RASIP1', 'score': 9.69}, {'connected_gene': 'RCN3', 'score': 2.68}, {'connected_gene': 'AP2A1', 'score': 1.71}, {'connected_gene': 'TRPM4', 'score': 1.45}, {'connected_gene': 'AKT1S1', 'score': 1.32}, {'connected_gene': 'BCL2L12', 'score': 0.34}]
chr19	GH19I049636	49636000	49636201	0.6	[{'connected_gene': 'RRAS', 'score': 0.77}, {'connected_gene': 'ENSG00000268636', 'score': 0.44}]
chr19	GH19I049635	49635684	49635833	0.51	[{'connected_gene': 'RRAS', 'score': 0.77}, {'connected_gene': 'ENSG00000268636', 'score': 0.44}]
chr19	GH19I049632	49631000	49631400	0.66	[{'connected_gene': 'PRR12', 'score': 17.38}, {'connected_gene': 'ENSG00000268636', 'score': 0.77}, {'connected_gene': 'RRAS', 'score': 0.44}]
chr19	GH19I049631	49631664	49632313	0.46	[{'connected_gene': 'PRR12', 'score': 17.37}, {'connected_gene': 'PRRG2', 'score': 12.19}, {'connected_gene': 'ENSG00000268636', 'score': 0.44}, {'connected_gene': 'RRAS', 'score': 0.44}]
chr19	GH19I048644	48644461	48647399	2.08	[{'connected_gene': 'CA11', 'score': 550.77}, {'connected_gene': 'GRWD1', 'score': 53.8}, {'connected_gene': 'SNORD35A', 'score': 47.54}, {'connected_gene': 'NOP53-AS1', 'score': 43.1}, {'connected_gene': 'ALDH16A1', 'score': 42.88}, {'connected_gene': 'SNORD35B', 'score': 39.55}, {'connected_gene': 'PRR12', 'score': 35.44}, {'connected_gene': 'NOP53', 'score': 32.36}, {'connected_gene': 'RPS11', 'score': 30.59}, {'connected_gene': 'SNRNP70', 'score': 30.36}, {'connected_gene': 'RPL13A', 'score': 29.34}, {'connected_gene': 'KDELR1', 'score': 22.57}, {'connected_gene': 'EHD2', 'score': 21.16}, {'connected_gene': 'SEC1P', 'score': 15.78}, {'connected_gene': 'ENSG00000268093', 'score': 12.92}, {'connected_gene': 'TRPM4', 'score': 12.6}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'PIH1D1', 'score': 11.92}, {'connected_gene': 'RPL18', 'score': 11.83}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'BAX', 'score': 11.06}, {'connected_gene': 'RRAS', 'score': 10.99}, {'connected_gene': 'CARD8', 'score': 10.92}, {'connected_gene': 'FLT3LG', 'score': 10.83}, {'connected_gene': 'CYTH2', 'score': 9.81}, {'connected_gene': 'SNORD23', 'score': 9.76}, {'connected_gene': 'FAM83E', 'score': 5.98}]
chr19	GH19I049649	49649683	49651269	0.31	[{'connected_gene': 'IRF3', 'score': 11.53}, {'connected_gene': 'PRMT1', 'score': 6.12}, {'connected_gene': 'RRAS', 'score': 5.97}, {'connected_gene': 'SCAF1', 'score': 0.44}, {'connected_gene': 'BCL2L12', 'score': 0.39}]
chr19	GH19I049486	49486479	49494000	2.51	[{'connected_gene': 'SNORD35A', 'score': 590.1}, {'connected_gene': 'RPL13A', 'score': 580.54}, {'connected_gene': 'SNORD33', 'score': 550.77}, {'connected_gene': 'GC19P049556', 'score': 550.77}, {'connected_gene': 'GC19P049554', 'score': 550.77}, {'connected_gene': 'SNORD32A', 'score': 550.77}, {'connected_gene': 'GC19P049531', 'score': 550.77}, {'connected_gene': 'PIR58998', 'score': 550.77}, {'connected_gene': 'PIR54526', 'score': 550.77}, {'connected_gene': 'GC19P049514', 'score': 550.77}, {'connected_gene': 'SNORD34', 'score': 550.77}, {'connected_gene': 'GC19P049561', 'score': 550.77}, {'connected_gene': 'GC19P049559', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 67.9}, {'connected_gene': 'POLD1', 'score': 58.38}, {'connected_gene': 'RPS11', 'score': 46.69}, {'connected_gene': 'ALDH16A1', 'score': 41.77}, {'connected_gene': 'IRF3', 'score': 38.88}, {'connected_gene': 'SNORD35B', 'score': 37.68}, {'connected_gene': 'PIH1D1', 'score': 34.32}, {'connected_gene': 'PRR12', 'score': 32.27}, {'connected_gene': 'RPL18', 'score': 31.19}, {'connected_gene': 'PTOV1-AS2', 'score': 30.34}, {'connected_gene': 'ENSG00000268047', 'score': 23.47}, {'connected_gene': 'FLT3LG', 'score': 22.81}, {'connected_gene': 'PNKP', 'score': 20.83}, {'connected_gene': 'ENSG00000268093', 'score': 15.41}, {'connected_gene': 'TSKS', 'score': 14.55}, {'connected_gene': 'ZNF473', 'score': 14.2}, {'connected_gene': 'VRK3', 'score': 12.22}, {'connected_gene': 'NOSIP', 'score': 11.48}, {'connected_gene': 'BAX', 'score': 11.31}, {'connected_gene': 'AKT1S1', 'score': 11.14}, {'connected_gene': 'RUVBL2', 'score': 11.13}, {'connected_gene': 'DKKL1', 'score': 10.94}, {'connected_gene': 'NR1H2', 'score': 10.8}, {'connected_gene': 'PTOV1', 'score': 10.6}, {'connected_gene': 'PRMT1', 'score': 10.51}, {'connected_gene': 'SLC6A16', 'score': 10.16}, {'connected_gene': 'MED25', 'score': 10.11}, {'connected_gene': 'RRAS', 'score': 4.99}, {'connected_gene': 'CPT1C', 'score': 4.84}, {'connected_gene': 'ENSG00000273189', 'score': 0.37}]
chr19	GH19I049741	49741601	49741800	0.49	[{'connected_gene': 'CPT1C', 'score': 12.73}, {'connected_gene': 'ADM5', 'score': 12.73}, {'connected_gene': 'PRMT1', 'score': 12.7}, {'connected_gene': 'TSKS', 'score': 12.22}, {'connected_gene': 'RNU6-841P', 'score': 12.22}, {'connected_gene': 'AP2A1', 'score': 12.19}, {'connected_gene': 'SCAF1', 'score': 10.27}, {'connected_gene': 'RRAS', 'score': 10.27}, {'connected_gene': 'LOC105372434', 'score': 0.44}, {'connected_gene': 'RPS9P4', 'score': 0.34}]
chr19	GH19I049420	49420842	49421313	1	[{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'RRAS', 'score': 3.44}, {'connected_gene': 'AP2A1', 'score': 2.33}, {'connected_gene': 'NOSIP', 'score': 1.88}, {'connected_gene': 'RCN3', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.27}, {'connected_gene': 'TBC1D17', 'score': 1.23}, {'connected_gene': 'LOC105372433', 'score': 0.77}]
chr19	GH19I049855	49855203	49856324	0.67	[{'connected_gene': 'GC19P049856', 'score': 550.77}, {'connected_gene': 'MIR4749', 'score': 550.77}, {'connected_gene': 'ENSG00000268047', 'score': 550.77}, {'connected_gene': 'PNKP', 'score': 16.71}, {'connected_gene': 'RRAS', 'score': 5.4}, {'connected_gene': 'PTOV1', 'score': 0.44}]