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
ENST00000602854	[[3832166, 3832245], [3833848, 3834130]]	None
ENST00000454396	[[3832166, 3832245], [3855703, 3855971]]	None
ENST00000380274	[[3849619, 3851551]]	[[3850045, 3851023]]
ENST00000380272	[[3849621, 3849720], [3850022, 3851551]]	[[3850045, 3851023]]
NM_012135	[[3849599, 3849720], [3850022, 3851554]]	[[3850045, 3851023]]

Promoter

Chrom	Start	End	Description
chr6	3849584	3849631	CAGE_peak_1_at_FAM50B_5end
chr6	3849632	3849663	CAGE_peak_2_at_FAM50B_5end
chr6	3849867	3849872	CAGE_peak_5_at_FAM50B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I004017	4017047	4024005	2.34	[{'connected_gene': 'PRPF4B', 'score': 688.6}, {'connected_gene': 'ENSG00000230648', 'score': 559.88}, {'connected_gene': 'ENSG00000272248', 'score': 556.47}, {'connected_gene': 'RIPK1', 'score': 71.7}, {'connected_gene': 'PSMG4', 'score': 52.93}, {'connected_gene': 'ENSG00000228170', 'score': 24.88}, {'connected_gene': 'C6orf201', 'score': 23.56}, {'connected_gene': 'ENSG00000272320', 'score': 19.86}, {'connected_gene': 'CDYL', 'score': 10.94}, {'connected_gene': 'FAM50B', 'score': 10.89}]
chr6	GH06I004809	4809934	4812537	1.18	[{'connected_gene': 'PRPF4B', 'score': 30.21}, {'connected_gene': 'C6orf201', 'score': 19.75}, {'connected_gene': 'LOC442155', 'score': 13.01}, {'connected_gene': 'FAM50B', 'score': 10.82}, {'connected_gene': 'GC06P004847', 'score': 0.28}, {'connected_gene': 'LOC101927913', 'score': 0.28}, {'connected_gene': 'CDYL', 'score': 0.14}]
chr6	GH06I003996	3996444	3998254	0.54	[{'connected_gene': 'PRPF4B', 'score': 11.64}, {'connected_gene': 'ENSG00000230648', 'score': 11.64}, {'connected_gene': 'FAM50B', 'score': 10.47}, {'connected_gene': 'C6orf201', 'score': 5.32}, {'connected_gene': 'GC06M003999', 'score': 0.77}, {'connected_gene': 'ENSG00000279926', 'score': 0.39}]
chr6	GH06I003978	3978001	3978834	0.95	[{'connected_gene': 'GLRX3P2', 'score': 550.77}, {'connected_gene': 'FAM50B', 'score': 11.16}, {'connected_gene': 'ENSG00000279926', 'score': 0.77}]
chr6	GH06I003812	3812607	3813868	1.12	[{'connected_gene': 'FAM50B', 'score': 11.98}, {'connected_gene': 'PXDC1', 'score': 4.81}, {'connected_gene': 'GC06M003824', 'score': 0.39}, {'connected_gene': 'GC06P003775', 'score': 0.28}]
chr6	GH06I003795	3795530	3799618	1.53	[{'connected_gene': 'FAM50B', 'score': 11.28}, {'connected_gene': 'LOC107987516', 'score': 8.5}, {'connected_gene': 'PXDC1', 'score': 5.28}, {'connected_gene': 'GC06P003775', 'score': 0.34}, {'connected_gene': 'GC06M003824', 'score': 0.31}]
chr6	GH06I003847	3847265	3850400	2.27	[{'connected_gene': 'FAM50B', 'score': 550.77}, {'connected_gene': 'LOC107987516', 'score': 5.31}, {'connected_gene': 'ENSG00000272277', 'score': 5.25}]
chr6	GH06I003697	3697165	3698571	0.43	[{'connected_gene': 'FAM50B', 'score': 9.51}, {'connected_gene': 'LOC100129626', 'score': 0.77}, {'connected_gene': 'LOC100507336', 'score': 0.34}]
chr6	GH06I004008	4008091	4008800	1.06	[{'connected_gene': 'FAM50B', 'score': 10.51}, {'connected_gene': 'GC06P004001', 'score': 0.44}, {'connected_gene': 'ENSG00000272248', 'score': 0.39}]
chr6	GH06I003885	3885747	3885836	0.75	[{'connected_gene': 'FAM50B', 'score': 11.02}, {'connected_gene': 'ENSG00000233068', 'score': 0.44}, {'connected_gene': 'GC06M003865', 'score': 0.37}, {'connected_gene': 'GC06P003853', 'score': 0.29}]
chr6	GH06I003820	3820037	3821406	0.31	[{'connected_gene': 'FAM50B', 'score': 11.05}, {'connected_gene': 'GC06M003824', 'score': 0.77}, {'connected_gene': 'GC06P003775', 'score': 0.25}]
chr6	GH06I003875	3875833	3876776	0.38	[{'connected_gene': 'FAM50B', 'score': 11.35}, {'connected_gene': 'GC06M003865', 'score': 0.44}, {'connected_gene': 'ENSG00000233068', 'score': 0.37}, {'connected_gene': 'GC06P003853', 'score': 0.34}]
chr6	GH06I003801	3801201	3801600	0.74	[{'connected_gene': 'FAM50B', 'score': 10.88}, {'connected_gene': 'GC06M003824', 'score': 0.34}, {'connected_gene': 'GC06P003775', 'score': 0.31}]
chr6	GH06I003882	3882498	3884953	1.11	[{'connected_gene': 'FAM50B', 'score': 11.55}, {'connected_gene': 'ENSG00000233068', 'score': 0.44}, {'connected_gene': 'GC06M003865', 'score': 0.37}, {'connected_gene': 'GC06P003853', 'score': 0.29}]
chr6	GH06I003867	3867601	3873359	1.31	[{'connected_gene': 'FAM50B', 'score': 11.49}, {'connected_gene': 'GC06M003865', 'score': 0.77}, {'connected_gene': 'GC06P003853', 'score': 0.37}, {'connected_gene': 'ENSG00000233068', 'score': 0.34}]
chr6	GH06I003807	3807867	3810293	1.16	[{'connected_gene': 'FAM50B', 'score': 11.52}, {'connected_gene': 'GC06M003824', 'score': 0.37}, {'connected_gene': 'GC06P003775', 'score': 0.29}]
chr6	GH06I003803	3803090	3807721	1.31	[{'connected_gene': 'LOC107987516', 'score': 12.58}, {'connected_gene': 'FAM50B', 'score': 11.27}, {'connected_gene': 'GC06M003824', 'score': 0.37}, {'connected_gene': 'GC06P003775', 'score': 0.29}]
chr6	GH06I003831	3831801	3832600	0.4	[{'connected_gene': 'LOC107987516', 'score': 574.58}, {'connected_gene': 'FAM50B', 'score': 0.37}]
chr6	GH06I003840	3840776	3844883	1.35	[{'connected_gene': 'LOC107987516', 'score': 6.98}, {'connected_gene': 'ENSG00000272277', 'score': 5.09}, {'connected_gene': 'FAM50B', 'score': 0.44}]
chr6	GH06I003834	3834435	3837048	1.3	[{'connected_gene': 'LOC107987516', 'score': 23.31}, {'connected_gene': 'FAM50B', 'score': 0.39}]
chr6	GH06I003722	3722247	3725591	0.8	[{'connected_gene': 'LOC100507336', 'score': 15.66}, {'connected_gene': 'PXDC1', 'score': 12.74}, {'connected_gene': 'ENSG00000219992', 'score': 12.72}, {'connected_gene': 'FAM50B', 'score': 10.59}, {'connected_gene': 'ENSG00000270504', 'score': 0.31}]
chr6	GH06I003905	3905600	3907417	1.32	[{'connected_gene': 'ENSG00000260604', 'score': 25.87}, {'connected_gene': 'FAM50B', 'score': 11.21}, {'connected_gene': 'HTATSF1P2', 'score': 4.62}, {'connected_gene': 'GC06M003900', 'score': 0.77}]
chr6	GH06I003902	3902801	3903200	0.2	[{'connected_gene': 'GC06M003900', 'score': 550.77}, {'connected_gene': 'FAM50B', 'score': 11.22}, {'connected_gene': 'ENSG00000260604', 'score': 0.44}]
chr6	GH06I003822	3822423	3827500	1.58	[{'connected_gene': 'GC06M003824', 'score': 550.77}, {'connected_gene': 'LOC107987516', 'score': 15.96}, {'connected_gene': 'FAM50B', 'score': 11.04}, {'connected_gene': 'PXDC1', 'score': 1.61}, {'connected_gene': 'GC06P003775', 'score': 0.23}]