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
ENST00000590834	[[42385780, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42394093], [42394407, 42394491], [42395463, 42396038]]	None
ENST00000426726	[[42385926, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42395463, 42396039]]	[[42386200, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42395463, 42395606]]
ENST00000590941	[[42385950, 42386307], [42389947, 42390063], [42390486, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42395094]]	[[42386200, 42386307], [42389947, 42390063], [42390486, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42394872]]
ENST00000225441	[[42385963, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42395238]]	[[42386200, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42394872]]
ENST00000587483	[[42388071, 42388881], [42389947, 42390063], [42390486, 42390620], [42390785, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393757, 42393890], [42393986, 42394093], [42395463, 42396037]]	None
ENST00000593079	[[42392125, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42393081]]	None
ENST00000588564	[[42393922, 42394093], [42395463, 42396038]]	None
NM_001144826	[[42385926, 42386307], [42389947, 42390063], [42390486, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42395238]]	[[42386200, 42386307], [42389947, 42390063], [42390486, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42394872]]
NM_006695	[[42385926, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42395238]]	[[42386200, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42394852, 42394872]]
NM_001144825	[[42385926, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42395463, 42396038]]	[[42386200, 42386307], [42389947, 42390063], [42390471, 42390620], [42390785, 42390871], [42392102, 42392192], [42392296, 42392377], [42392522, 42392688], [42392819, 42392977], [42393752, 42393890], [42393986, 42394093], [42395463, 42395606]]

Promoter

Chrom	Start	End	Description
chr17	42385312	42385320	CAGE_peak_14_at_RUNDC3A_5end
chr17	42385941	42385996	CAGE_peak_1_at_RUNDC3A_5end
chr17	42385998	42386020	CAGE_peak_2_at_RUNDC3A_5end
chr17	42386161	42386179	CAGE_peak_4_at_RUNDC3A_5end
chr17	42392517	42392522	CAGE_peak_17_at_RUNDC3A_5end
chr17	42392549	42392560	CAGE_peak_5_at_RUNDC3A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I044281	44281635	44281933	0.94	[{'connected_gene': 'SLC4A1', 'score': 50.46}, {'connected_gene': 'SLC25A39', 'score': 10.13}, {'connected_gene': 'UBTF', 'score': 2.4}, {'connected_gene': 'RUNDC3A', 'score': 1.64}, {'connected_gene': 'RN7SL507P', 'score': 0.44}, {'connected_gene': 'LOC105371790', 'score': 0.44}, {'connected_gene': 'GC17M044291', 'score': 0.44}]
chr17	GH17I044268	44268490	44271317	0.81	[{'connected_gene': 'SLC4A1', 'score': 590.13}, {'connected_gene': 'GRN', 'score': 5.75}, {'connected_gene': 'SLC25A39', 'score': 3.92}, {'connected_gene': 'UBTF', 'score': 2.39}, {'connected_gene': 'RUNDC3A', 'score': 1.68}, {'connected_gene': 'LOC105371790', 'score': 0.44}]
chr17	GH17I044344	44344432	44349883	2.56	[{'connected_gene': 'GRN', 'score': 559.57}, {'connected_gene': 'UBTF', 'score': 25.03}, {'connected_gene': 'SLC25A39', 'score': 15.37}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'C17orf53', 'score': 12.91}, {'connected_gene': 'RUNDC3A-AS1', 'score': 12.72}, {'connected_gene': 'TMUB2', 'score': 12.6}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.02}, {'connected_gene': 'LSM12', 'score': 11.82}, {'connected_gene': 'RUNDC3A', 'score': 11.39}, {'connected_gene': 'ENSG00000221496', 'score': 11.38}, {'connected_gene': 'RNU6-453P', 'score': 11.38}, {'connected_gene': 'ASB16-AS1', 'score': 11.37}, {'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'ENSG00000224505', 'score': 11.27}, {'connected_gene': 'SLC4A1', 'score': 11.03}, {'connected_gene': 'CD300LG', 'score': 10.56}, {'connected_gene': 'EFTUD2', 'score': 10.44}, {'connected_gene': 'DHX8', 'score': 10.15}, {'connected_gene': 'HEXIM2', 'score': 9.68}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]
chr17	GH17I044307	44307404	44309450	1.95	[{'connected_gene': 'RUNDC3A', 'score': 550.77}, {'connected_gene': 'RNU6-453P', 'score': 550.77}, {'connected_gene': 'TMUB2', 'score': 13.96}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.03}, {'connected_gene': 'LINC00910', 'score': 11.79}, {'connected_gene': 'ENSG00000224505', 'score': 10.65}, {'connected_gene': 'HEXIM1', 'score': 10.04}, {'connected_gene': 'DHX8', 'score': 10.03}, {'connected_gene': 'C17orf53', 'score': 9.88}, {'connected_gene': 'GRN', 'score': 7.97}, {'connected_gene': 'SLC25A39', 'score': 4.46}, {'connected_gene': 'GC17P044298', 'score': 0.44}, {'connected_gene': 'RUNDC3A-AS1', 'score': 0.44}, {'connected_gene': 'GC17P044299', 'score': 0.44}]
chr17	GH17I044314	44314431	44316914	1.02	[{'connected_gene': 'RUNDC3A-AS1', 'score': 568.09}, {'connected_gene': 'SLC25A39', 'score': 17.12}, {'connected_gene': 'UBTF', 'score': 16.87}, {'connected_gene': 'ASB16-AS1', 'score': 16.78}, {'connected_gene': 'DHX8', 'score': 12.83}, {'connected_gene': 'TMUB2', 'score': 10.98}, {'connected_gene': 'GPATCH8', 'score': 10.46}, {'connected_gene': 'LINC00910', 'score': 10.16}, {'connected_gene': 'GC17M044320', 'score': 0.77}, {'connected_gene': 'RUNDC3A', 'score': 0.44}, {'connected_gene': 'GC17P044298', 'score': 0.37}, {'connected_gene': 'GC17P044299', 'score': 0.37}]