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

Promoter

Chrom	Start	End	Description
chr1	3773825	3773855	CAGE_peak_2_at_DFFB_5end
chr1	3774016	3774056	CAGE_peak_1_at_DFFB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I003843	3843001	3843400	0.31	[{'connected_gene': 'CEP104', 'score': 37.77}, {'connected_gene': 'SMIM1', 'score': 7.12}, {'connected_gene': 'DFFB', 'score': 0.39}, {'connected_gene': 'LRRC47', 'score': 0.25}]
chr1	GH01I003855	3855187	3855246	0.5	[{'connected_gene': 'CEP104', 'score': 550.77}, {'connected_gene': 'DFFB', 'score': 550.77}, {'connected_gene': 'LRRC47', 'score': 0.22}]
chr1	GH01I003856	3856200	3858381	2.04	[{'connected_gene': 'CEP104', 'score': 588.86}, {'connected_gene': 'DFFB', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 19.76}, {'connected_gene': 'WRAP73', 'score': 16.0}, {'connected_gene': 'SMIM1', 'score': 15.68}, {'connected_gene': 'ENSG00000272153', 'score': 14.12}]
chr1	GH01I003944	3944930	3945159	0.22	[{'connected_gene': 'TP73', 'score': 12.45}, {'connected_gene': 'CEP104', 'score': 10.69}, {'connected_gene': 'DFFB', 'score': 10.69}, {'connected_gene': 'LINC01345', 'score': 6.11}, {'connected_gene': 'WRAP73', 'score': 1.55}, {'connected_gene': 'LINC01346', 'score': 0.77}]
chr1	GH01I003928	3928061	3928427	0.24	[{'connected_gene': 'TP73', 'score': 56.21}, {'connected_gene': 'WRAP73', 'score': 2.8}, {'connected_gene': 'DFFB', 'score': 1.45}, {'connected_gene': 'CEP104', 'score': 1.4}, {'connected_gene': 'LINC01346', 'score': 0.39}, {'connected_gene': 'PIR46444', 'score': 0.31}]
chr1	GH01I003692	3692712	3692875	0.34	[{'connected_gene': 'TP73', 'score': 19.1}, {'connected_gene': 'WRAP73', 'score': 2.83}, {'connected_gene': 'DFFB', 'score': 1.44}, {'connected_gene': 'CEP104', 'score': 1.3}, {'connected_gene': 'LOC105378609', 'score': 0.37}, {'connected_gene': 'ENSG00000235131', 'score': 0.34}]
chr1	GH01I003746	3746001	3747986	1.42	[{'connected_gene': 'TP73-AS1', 'score': 571.08}, {'connected_gene': 'GC01P003748', 'score': 550.77}, {'connected_gene': 'CCDC27', 'score': 550.77}, {'connected_gene': 'DFFB', 'score': 11.79}, {'connected_gene': 'ENSG00000235131', 'score': 11.74}, {'connected_gene': 'TP73', 'score': 11.61}, {'connected_gene': 'LOC105378610', 'score': 10.58}, {'connected_gene': 'WRAP73', 'score': 10.32}]
chr1	GH01I003420	3420436	3425366	1.12	[{'connected_gene': 'TP73-AS1', 'score': 14.76}, {'connected_gene': 'ACTRT2', 'score': 12.06}, {'connected_gene': 'WRAP73', 'score': 11.77}, {'connected_gene': 'DFFB', 'score': 11.7}, {'connected_gene': 'ENSG00000272153', 'score': 11.62}, {'connected_gene': 'GC01M003410', 'score': 0.44}, {'connected_gene': 'ARHGEF16', 'score': 0.29}, {'connected_gene': 'GC01P003264', 'score': 0.1}, {'connected_gene': 'PRDM16', 'score': 0.05}]
chr1	GH01I003811	3811361	3811800	0.69	[{'connected_gene': 'SMIM1', 'score': 18.19}, {'connected_gene': 'LRRC47', 'score': 0.37}, {'connected_gene': 'DFFB', 'score': 0.25}]
chr1	GH01I003885	3885986	3887257	0.31	[{'connected_gene': 'C1orf174', 'score': 32.28}, {'connected_gene': 'CEP104', 'score': 13.14}, {'connected_gene': 'DFFB', 'score': 13.14}, {'connected_gene': 'PIR62209', 'score': 0.77}]
chr1	GH01I003881	3881779	3882178	0.2	[{'connected_gene': 'C1orf174', 'score': 15.17}, {'connected_gene': 'DFFB', 'score': 14.83}, {'connected_gene': 'PIR62209', 'score': 0.44}, {'connected_gene': 'CEP104', 'score': 0.34}]
chr1	GH01I003899	3899117	3901831	2.63	[{'connected_gene': 'C1orf174', 'score': 645.33}, {'connected_gene': 'PIR46444', 'score': 550.77}, {'connected_gene': 'LINC01134', 'score': 550.77}, {'connected_gene': 'PIR33659', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 105.52}, {'connected_gene': 'WRAP73', 'score': 76.91}, {'connected_gene': 'ENSG00000272153', 'score': 68.86}, {'connected_gene': 'DFFB', 'score': 46.61}, {'connected_gene': 'CEP104', 'score': 19.27}, {'connected_gene': 'MEGF6', 'score': 9.91}, {'connected_gene': 'LRRC47', 'score': 2.02}]
chr1	GH01I003886	3885453	3885963	0.2	[{'connected_gene': 'DFFB', 'score': 20.7}, {'connected_gene': 'PIR62209', 'score': 0.44}, {'connected_gene': 'CEP104', 'score': 0.31}]
chr1	GH01I003882	3882701	3884516	0.51	[{'connected_gene': 'DFFB', 'score': 10.68}, {'connected_gene': 'PIR62209', 'score': 0.44}, {'connected_gene': 'CEP104', 'score': 0.31}]
chr1	GH01I003703	3703471	3703761	0.54	[{'connected_gene': 'DFFB', 'score': 14.58}, {'connected_gene': 'TP73-AS1', 'score': 10.15}, {'connected_gene': 'ENSG00000235131', 'score': 0.39}, {'connected_gene': 'LOC105378609', 'score': 0.31}, {'connected_gene': 'TP73', 'score': 0.23}]
chr1	GH01I003880	3880867	3881712	0.4	[{'connected_gene': 'DFFB', 'score': 13.35}, {'connected_gene': 'C1orf174', 'score': 10.88}, {'connected_gene': 'PIR62209', 'score': 0.44}, {'connected_gene': 'CEP104', 'score': 0.34}]
chr1	GH01I003868	3868992	3870503	0.79	[{'connected_gene': 'DFFB', 'score': 12.27}, {'connected_gene': 'C1orf174', 'score': 9.62}, {'connected_gene': 'SMIM1', 'score': 5.9}, {'connected_gene': 'CEP104', 'score': 0.39}, {'connected_gene': 'PIR62209', 'score': 0.34}]
chr1	GH01I003910	3910349	3911817	0.93	[{'connected_gene': 'DFFB', 'score': 19.51}, {'connected_gene': 'C1orf174', 'score': 8.58}, {'connected_gene': 'PIR46444', 'score': 0.39}, {'connected_gene': 'LINC01134', 'score': 0.39}, {'connected_gene': 'LINC01346', 'score': 0.31}]
chr1	GH01I003676	3676415	3679600	1.35	[{'connected_gene': 'LOC105378609', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 44.42}, {'connected_gene': 'DFFB', 'score': 19.94}, {'connected_gene': 'WRAP73', 'score': 19.22}, {'connected_gene': 'C1orf174', 'score': 12.85}, {'connected_gene': 'TP73', 'score': 12.05}, {'connected_gene': 'ENSG00000272153', 'score': 11.14}, {'connected_gene': 'CEP104', 'score': 10.06}, {'connected_gene': 'MEGF6', 'score': 1.95}, {'connected_gene': 'ENSG00000235131', 'score': 0.28}]
chr1	GH01I002986	2986518	2989370	0.76	[{'connected_gene': 'GC01P002988', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 41.64}, {'connected_gene': 'ENSG00000234396', 'score': 41.05}, {'connected_gene': 'ENSG00000272153', 'score': 28.02}, {'connected_gene': 'LOC100129534', 'score': 21.53}, {'connected_gene': 'MORN1', 'score': 21.36}, {'connected_gene': 'WRAP73', 'score': 20.85}, {'connected_gene': 'DFFB', 'score': 20.4}, {'connected_gene': 'C1orf174', 'score': 18.69}, {'connected_gene': 'ACTRT2', 'score': 13.11}, {'connected_gene': 'FAAP20', 'score': 11.58}, {'connected_gene': 'ENSG00000272420', 'score': 10.43}, {'connected_gene': 'ENSG00000284745', 'score': 0.37}]
chr1	GH01I003889	3889100	3891938	0.72	[{'connected_gene': 'PIR62209', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 53.73}, {'connected_gene': 'DFFB', 'score': 30.05}, {'connected_gene': 'CEP104', 'score': 13.12}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000378209	[[3773844, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3800305]]
ENST00000491998	[[3773844, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3789577, 3789701], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3789577, 3789608]]
ENST00000468793	[[3774023, 3774281], [3775281, 3775430], [3782375, 3782564], [3782847, 3782962], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775430], [3782375, 3782460]]
ENST00000339350	[[3774036, 3774281], [3775281, 3775408], [3782206, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775408], [3782206, 3782316]]
ENST00000477548	[[3774036, 3774281], [3775281, 3775408], [3776983, 3777070], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775408], [3776983, 3777054]]
ENST00000378206	[[3774080, 3774281], [3775281, 3775408], [3782325, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775408], [3782325, 3782327]]
ENST00000475969	[[3774163, 3774281], [3775281, 3775430], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775430], [3782375, 3782460]]
ENST00000461150	[[3800070, 3800364], [3801601, 3801993]]	[[3800070, 3800305]]
ENST00000341385	[[3773844, 3774281], [3775281, 3775408], [3776983, 3777054]]	[[3774167, 3774281], [3775281, 3775408], [3776983, 3777054]]
ENST00000378212	[[3773844, 3774281], [3775281, 3775408], [3782206, 3782316]]	[[3774167, 3774281], [3775281, 3775408], [3782206, 3782316]]
ENST00000338895	[[3773844, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3789577, 3789608]]	[[3774167, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3789577, 3789608]]
ENST00000481945	[[3784226, 3784617], [3786168, 3786339], [3789035, 3789109]]	None
NM_004402	[[3773830, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3800305]]
NR_135150	[[3773830, 3774281], [3775281, 3775408], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3789577, 3789701], [3800070, 3801993]]	None
NM_001320136	[[3773830, 3774281], [3775281, 3775408], [3782325, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3782326, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3800305]]
NM_001320132	[[3773830, 3774281], [3775281, 3775408], [3782206, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3782281, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3800305]]
NR_135151	[[3773830, 3774281], [3775281, 3775408], [3776983, 3777070], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	None
NR_135152	[[3773830, 3774281], [3775281, 3775430], [3782375, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	None
NR_104222	[[3773830, 3774281], [3775281, 3775430], [3782375, 3782564], [3782847, 3782962], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	None
NM_001282669	[[3773830, 3774281], [3775281, 3775430], [3782325, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3801993]]	[[3774167, 3774281], [3775281, 3775430], [3782325, 3782564], [3784537, 3784617], [3786168, 3786339], [3789035, 3789136], [3800070, 3800305]]