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
ENST00000295989	[[12837970, 12838287], [12844986, 12845130], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12867040, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12876301]]	[[12838219, 12838287], [12844986, 12845130], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12867040, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12875481]]
ENST00000446928	[[12838170, 12838287], [12844986, 12845130], [12851416, 12851823], [12854488, 12854591]]	[[12838219, 12838287], [12844986, 12845130], [12851416, 12851537]]
ENST00000456430	[[12838178, 12838287], [12844986, 12845130], [12848804, 12848959], [12849708, 12849832], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12866968, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12876302]]	[[12838219, 12838287], [12844986, 12845130], [12848804, 12848959], [12849708, 12849832], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12866968, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12875481]]
ENST00000466558	[[12848631, 12848959], [12849708, 12849832], [12851557, 12851652]]	None
ENST00000454887	[[12868944, 12869103], [12872963, 12873071], [12892157, 12892359], [12913234, 12913415]]	[[12868944, 12869103], [12872963, 12873071], [12892157, 12892359], [12913234, 12913257]]
NM_012298	[[12838170, 12838287], [12844986, 12845130], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12867040, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12876313]]	[[12838219, 12838287], [12844986, 12845130], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12867040, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12875481]]
NM_001162499	[[12838170, 12838287], [12844986, 12845130], [12848804, 12848959], [12849708, 12849832], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12866968, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12876313]]	[[12838219, 12838287], [12844986, 12845130], [12848804, 12848959], [12849708, 12849832], [12851557, 12851823], [12854488, 12854594], [12854744, 12854887], [12856639, 12856932], [12857365, 12857507], [12857872, 12859375], [12861584, 12861680], [12866968, 12867138], [12868938, 12869103], [12872963, 12873071], [12875253, 12875481]]

Promoter

Chrom	Start	End	Description
chr3	12838142	12838153	CAGE_peak_2_at_CAND2_5end
chr3	12838161	12838215	CAGE_peak_1_at_CAND2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I012962	12962629	12971310	2.46	[{'connected_gene': 'IQSEC1', 'score': 561.17}, {'connected_gene': 'TSEN2', 'score': 11.45}, {'connected_gene': 'RPL32', 'score': 10.78}, {'connected_gene': 'SNORA7A', 'score': 10.78}, {'connected_gene': 'ENSG00000250939', 'score': 10.78}, {'connected_gene': 'CAND2', 'score': 4.4}, {'connected_gene': 'GC03M014446', 'score': 0.23}, {'connected_gene': 'PIR41577', 'score': 0.23}, {'connected_gene': 'GC03P013026', 'score': 0.22}]
chr3	GH03I012989	12989586	12996549	2.34	[{'connected_gene': 'IQSEC1', 'score': 14.61}, {'connected_gene': 'HDAC11', 'score': 5.33}, {'connected_gene': 'CAND2', 'score': 4.28}, {'connected_gene': 'GC03P013026', 'score': 0.31}, {'connected_gene': 'GC03M014446', 'score': 0.18}, {'connected_gene': 'PIR41577', 'score': 0.18}]
chr3	GH03I013001	13001830	13024396	1.72	[{'connected_gene': 'IQSEC1', 'score': 22.36}, {'connected_gene': 'HDAC11', 'score': 10.09}, {'connected_gene': 'HDAC11-AS1', 'score': 10.09}, {'connected_gene': 'CAND2', 'score': 4.33}, {'connected_gene': 'NUP210', 'score': 1.69}, {'connected_gene': 'RPL32', 'score': 1.26}, {'connected_gene': 'GC03P013026', 'score': 0.44}, {'connected_gene': 'GC03P013027', 'score': 0.39}, {'connected_gene': 'GC03M014446', 'score': 0.15}, {'connected_gene': 'PIR41577', 'score': 0.15}]
chr3	GH03I012846	12846122	12847647	0.59	[{'connected_gene': 'TSEN2', 'score': 12.56}, {'connected_gene': 'LINC02022', 'score': 7.8}, {'connected_gene': 'ENSG00000272263', 'score': 5.72}, {'connected_gene': 'PIR54835', 'score': 0.77}, {'connected_gene': 'RPL32', 'score': 0.44}, {'connected_gene': 'CAND2', 'score': 0.23}]
chr3	GH03I012680	12680835	12682999	1.37	[{'connected_gene': 'RAF1', 'score': 21.58}, {'connected_gene': 'MKRN2OS', 'score': 6.94}, {'connected_gene': 'CAND2', 'score': 5.62}, {'connected_gene': 'CRIP1P1', 'score': 0.44}, {'connected_gene': 'TMEM40', 'score': 0.17}]
chr3	GH03I012757	12757487	12761316	1.71	[{'connected_gene': 'TMEM40', 'score': 559.86}, {'connected_gene': 'CAND2', 'score': 21.25}, {'connected_gene': 'TAMM41', 'score': 12.79}, {'connected_gene': 'MKRN2', 'score': 12.32}, {'connected_gene': 'VGLL4', 'score': 10.43}, {'connected_gene': 'CRIP1P1', 'score': 0.17}]
chr3	GH03I012727	12727810	12730800	0.69	[{'connected_gene': 'CAND2', 'score': 11.1}, {'connected_gene': 'ENSG00000272263', 'score': 6.79}, {'connected_gene': 'TMEM40', 'score': 0.26}, {'connected_gene': 'CRIP1P1', 'score': 0.22}]
chr3	GH03I012780	12780745	12781598	0.31	[{'connected_gene': 'CAND2', 'score': 24.3}, {'connected_gene': 'KRT18P17', 'score': 0.44}, {'connected_gene': 'TMEM40', 'score': 0.39}]
chr3	GH03I012795	12795917	12800656	2.18	[{'connected_gene': 'CAND2', 'score': 586.1}, {'connected_gene': 'MKRN2', 'score': 13.2}, {'connected_gene': 'TSEN2', 'score': 10.17}, {'connected_gene': 'TMEM40', 'score': 9.23}, {'connected_gene': 'ENSG00000272263', 'score': 0.29}]
chr3	GH03I012749	12749562	12754562	1.2	[{'connected_gene': 'CAND2', 'score': 22.56}, {'connected_gene': 'MKRN2', 'score': 15.67}, {'connected_gene': 'KRT18P17', 'score': 11.87}, {'connected_gene': 'TMEM40', 'score': 8.85}, {'connected_gene': 'CRIP1P1', 'score': 0.18}]
chr3	GH03I012700	12700966	12704488	0.84	[{'connected_gene': 'CAND2', 'score': 17.75}, {'connected_gene': 'MKRN2', 'score': 13.3}, {'connected_gene': 'KRT18P17', 'score': 11.85}, {'connected_gene': 'ENSG00000272263', 'score': 4.87}, {'connected_gene': 'CRIP1P1', 'score': 0.31}, {'connected_gene': 'TMEM40', 'score': 0.2}]
chr3	GH03I012809	12809577	12811441	1.13	[{'connected_gene': 'TAMM41', 'score': 16.17}, {'connected_gene': 'SNORA7A', 'score': 11.68}, {'connected_gene': 'RPL32', 'score': 11.66}, {'connected_gene': 'ENSG00000250939', 'score': 11.63}, {'connected_gene': 'TSEN2', 'score': 10.94}, {'connected_gene': 'CAND2', 'score': 5.71}, {'connected_gene': 'ENSG00000272263', 'score': 0.34}]
chr3	GH03I012719	12719601	12720912	1.05	[{'connected_gene': 'MKRN2OS', 'score': 10.54}, {'connected_gene': 'ENSG00000272263', 'score': 6.37}, {'connected_gene': 'CAND2', 'score': 6.02}, {'connected_gene': 'CRIP1P1', 'score': 0.25}, {'connected_gene': 'TMEM40', 'score': 0.25}]
chr3	GH03I012458	12458005	12459790	0.99	[{'connected_gene': 'GC03P012458', 'score': 550.77}, {'connected_gene': 'TSEN2', 'score': 22.98}, {'connected_gene': 'TAMM41', 'score': 16.17}, {'connected_gene': 'VGLL4', 'score': 12.51}, {'connected_gene': 'TIMP4', 'score': 10.71}, {'connected_gene': 'SYN2', 'score': 10.7}, {'connected_gene': 'PPARG', 'score': 10.62}, {'connected_gene': 'MKRN2', 'score': 7.06}, {'connected_gene': 'CAND2', 'score': 4.45}, {'connected_gene': 'GC03P012338', 'score': 0.13}]
chr3	GH03I012839	12838462	12838611	0.58	[{'connected_gene': 'GC03M012839', 'score': 550.77}, {'connected_gene': 'GC03M012844', 'score': 550.77}, {'connected_gene': 'GC03M012841', 'score': 550.77}, {'connected_gene': 'SNORA7A', 'score': 550.77}, {'connected_gene': 'LINC02022', 'score': 8.15}, {'connected_gene': 'ENSG00000272263', 'score': 5.09}, {'connected_gene': 'RPL32', 'score': 0.77}, {'connected_gene': 'CAND2', 'score': 0.26}]
chr3	GH03I012870	12870750	12871547	0.74	[{'connected_gene': 'PIR37962', 'score': 550.77}, {'connected_gene': 'GC03P012869', 'score': 550.77}, {'connected_gene': 'GC03M014465', 'score': 550.77}, {'connected_gene': 'GC03M014425', 'score': 550.77}, {'connected_gene': 'PIR60677', 'score': 550.77}, {'connected_gene': 'PIR48953', 'score': 550.77}, {'connected_gene': 'GC03M014422', 'score': 550.77}, {'connected_gene': 'GC03M014440', 'score': 550.77}, {'connected_gene': 'GC03M014449', 'score': 550.77}, {'connected_gene': 'PIR43700', 'score': 550.77}, {'connected_gene': 'PIR40824', 'score': 550.77}, {'connected_gene': 'PIR57939', 'score': 550.77}, {'connected_gene': 'PIR58629', 'score': 550.77}, {'connected_gene': 'PIR33267', 'score': 550.77}, {'connected_gene': 'PIR57182', 'score': 550.77}, {'connected_gene': 'GC03M014421', 'score': 550.77}, {'connected_gene': 'PIR32651', 'score': 550.77}, {'connected_gene': 'PIR59867', 'score': 550.77}, {'connected_gene': 'PIR50197', 'score': 550.77}, {'connected_gene': 'PIR35852', 'score': 550.77}, {'connected_gene': 'PIR59109', 'score': 550.77}, {'connected_gene': 'GC03M014442', 'score': 550.77}, {'connected_gene': 'GC03P012871', 'score': 550.77}, {'connected_gene': 'PIR32538', 'score': 550.77}, {'connected_gene': 'ENSG00000250939', 'score': 13.2}, {'connected_gene': 'RPL32', 'score': 13.18}, {'connected_gene': 'SNORA7A', 'score': 13.16}, {'connected_gene': 'CAND2', 'score': 0.19}]
chr3	GH03I012838	12838979	12842624	2.31	[{'connected_gene': 'GC03M012839', 'score': 550.77}, {'connected_gene': 'GC03M012844', 'score': 550.77}, {'connected_gene': 'RPL32', 'score': 550.77}, {'connected_gene': 'GC03M012841', 'score': 550.77}, {'connected_gene': 'SNORA7A', 'score': 550.77}, {'connected_gene': 'TAMM41', 'score': 40.78}, {'connected_gene': 'ENSG00000272263', 'score': 15.37}, {'connected_gene': 'TSEN2', 'score': 12.78}, {'connected_gene': 'LINC02022', 'score': 7.95}, {'connected_gene': 'CAND2', 'score': 0.26}]
chr3	GH03I012867	12867582	12869628	1.45	[{'connected_gene': 'GC03P012869', 'score': 550.77}, {'connected_gene': 'PIR35333', 'score': 550.77}, {'connected_gene': 'GC03M014417', 'score': 550.77}, {'connected_gene': 'GC03M014465', 'score': 550.77}, {'connected_gene': 'GC03M014425', 'score': 550.77}, {'connected_gene': 'PIR60677', 'score': 550.77}, {'connected_gene': 'PIR48953', 'score': 550.77}, {'connected_gene': 'PIR62153', 'score': 550.77}, {'connected_gene': 'GC03M014454', 'score': 550.77}, {'connected_gene': 'GC03M014453', 'score': 550.77}, {'connected_gene': 'PIR33267', 'score': 550.77}, {'connected_gene': 'GC03M014401', 'score': 550.77}, {'connected_gene': 'PIR32651', 'score': 550.77}, {'connected_gene': 'PIR59855', 'score': 550.77}, {'connected_gene': 'GC03M014438', 'score': 550.77}, {'connected_gene': 'PIR44123', 'score': 550.77}, {'connected_gene': 'PIR50197', 'score': 550.77}, {'connected_gene': 'PIR59109', 'score': 550.77}, {'connected_gene': 'PIR33230', 'score': 550.77}, {'connected_gene': 'ENSG00000272263', 'score': 4.83}, {'connected_gene': 'MKRN2', 'score': 1.37}, {'connected_gene': 'CAND2', 'score': 0.19}]
chr3	GH03I012832	12832922	12834214	0.59	[{'connected_gene': 'ENSG00000272263', 'score': 550.77}, {'connected_gene': 'CAND2', 'score': 11.97}, {'connected_gene': 'KRT18P17', 'score': 11.95}, {'connected_gene': 'RPL32', 'score': 11.07}, {'connected_gene': 'TAMM41', 'score': 10.22}, {'connected_gene': 'LINC02022', 'score': 8.11}, {'connected_gene': 'TSEN2', 'score': 4.74}, {'connected_gene': 'GC03M012839', 'score': 0.44}]
chr3	GH03I012830	12830462	12830531	0.52	[{'connected_gene': 'ENSG00000272263', 'score': 5.43}, {'connected_gene': 'CAND2', 'score': 0.29}]
chr3	GH03I012853	12853322	12853491	0.6	[{'connected_gene': 'PIR44361', 'score': 550.77}, {'connected_gene': 'PIR34358', 'score': 550.77}, {'connected_gene': 'GC03M012854', 'score': 550.77}, {'connected_gene': 'PIR37513', 'score': 550.77}, {'connected_gene': 'GC03M014455', 'score': 550.77}, {'connected_gene': 'PIR49609', 'score': 550.77}, {'connected_gene': 'GC03M014432', 'score': 550.77}, {'connected_gene': 'GC03M014424', 'score': 550.77}, {'connected_gene': 'PIR39005', 'score': 550.77}, {'connected_gene': 'PIR50852', 'score': 550.77}, {'connected_gene': 'GC03M014457', 'score': 550.77}, {'connected_gene': 'PIR32406', 'score': 550.77}, {'connected_gene': 'CAND2', 'score': 0.22}]