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
ENST00000278947	[[118032665, 118037801], [118038799, 118039010], [118039299, 118039466], [118047076, 118047388]]	[[118037601, 118037801], [118038799, 118039010], [118039299, 118039466], [118047076, 118047146]]
NM_004588	[[118033518, 118037801], [118038799, 118039010], [118039299, 118039466], [118047076, 118047337]]	[[118037601, 118037801], [118038799, 118039010], [118039299, 118039466], [118047076, 118047146]]

Promoter

Chrom	Start	End	Description
chr11	118047151	118047162	CAGE_peak_3_at_SCN2B_5end
chr11	118047294	118047368	CAGE_peak_1_at_SCN2B_5end
chr11	118047376	118047387	CAGE_peak_2_at_SCN2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I118187	118187001	118187400	0.31	[{'connected_gene': 'SCN2B', 'score': 16.72}, {'connected_gene': 'SCN4B', 'score': 12.32}, {'connected_gene': 'CD3D', 'score': 12.13}, {'connected_gene': 'CD3G', 'score': 12.13}, {'connected_gene': 'CD3E', 'score': 11.84}, {'connected_gene': 'TMPRSS4', 'score': 10.29}, {'connected_gene': 'HSPE1P18', 'score': 0.34}]
chr11	GH11I118184	118184601	118185800	0.4	[{'connected_gene': 'SCN2B', 'score': 15.73}, {'connected_gene': 'SCN4B', 'score': 12.32}, {'connected_gene': 'CD3D', 'score': 12.13}, {'connected_gene': 'CD3G', 'score': 12.13}, {'connected_gene': 'CD3E', 'score': 11.84}, {'connected_gene': 'TMPRSS4', 'score': 10.29}, {'connected_gene': 'HSPE1P18', 'score': 0.34}]
chr11	GH11I118180	118180142	118180973	1.08	[{'connected_gene': 'SCN2B', 'score': 18.72}, {'connected_gene': 'SCN4B', 'score': 4.0}, {'connected_gene': 'FXYD6', 'score': 3.5}, {'connected_gene': 'DSCAML1', 'score': 2.1}, {'connected_gene': 'TMEM25', 'score': 1.35}, {'connected_gene': 'HSPE1P18', 'score': 0.31}]
chr11	GH11I118174	118174646	118176755	1.48	[{'connected_gene': 'SCN2B', 'score': 562.58}, {'connected_gene': 'GC11P118174', 'score': 550.77}, {'connected_gene': 'SCN4B', 'score': 12.67}, {'connected_gene': 'CD3G', 'score': 11.06}, {'connected_gene': 'CD3D', 'score': 11.06}, {'connected_gene': 'CD3E', 'score': 10.84}, {'connected_gene': 'TMPRSS4', 'score': 10.35}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.7}, {'connected_gene': 'FXYD6', 'score': 9.7}, {'connected_gene': 'TTC36', 'score': 8.92}]
chr11	GH11I118142	118142601	118143347	0.49	[{'connected_gene': 'SCN2B', 'score': 11.4}, {'connected_gene': 'TMPRSS4', 'score': 10.55}, {'connected_gene': 'FXYD6', 'score': 9.49}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.49}, {'connected_gene': 'PIR33394', 'score': 0.44}, {'connected_gene': 'SCN4B', 'score': 0.44}]
chr11	GH11I118348	118347601	118347800	0.4	[{'connected_gene': 'SCN2B', 'score': 8.59}, {'connected_gene': 'CD3G', 'score': 0.77}, {'connected_gene': 'UBE4A', 'score': 0.39}]
chr11	GH11I118146	118145166	118145315	0.76	[{'connected_gene': 'SCN2B', 'score': 11.84}, {'connected_gene': 'CD3G', 'score': 11.4}, {'connected_gene': 'CD3D', 'score': 11.4}, {'connected_gene': 'CD3E', 'score': 10.61}, {'connected_gene': 'TMPRSS4', 'score': 10.04}, {'connected_gene': 'TMPRSS13', 'score': 9.36}, {'connected_gene': 'SCN4B', 'score': 0.44}, {'connected_gene': 'PIR33394', 'score': 0.39}]
chr11	GH11I118145	118145366	118146201	1.45	[{'connected_gene': 'SCN2B', 'score': 11.84}, {'connected_gene': 'CD3G', 'score': 11.4}, {'connected_gene': 'CD3D', 'score': 11.4}, {'connected_gene': 'CD3E', 'score': 10.61}, {'connected_gene': 'TMPRSS4', 'score': 10.04}, {'connected_gene': 'TMPRSS13', 'score': 9.36}, {'connected_gene': 'SCN4B', 'score': 0.44}, {'connected_gene': 'PIR33394', 'score': 0.39}]
chr11	GH11I118171	118171342	118172051	0.99	[{'connected_gene': 'SCN2B', 'score': 11.7}, {'connected_gene': 'CD3G', 'score': 10.85}, {'connected_gene': 'CD3D', 'score': 10.85}, {'connected_gene': 'CD3E', 'score': 10.83}, {'connected_gene': 'TMPRSS4', 'score': 10.35}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.7}, {'connected_gene': 'FXYD6', 'score': 9.7}, {'connected_gene': 'TTC36', 'score': 8.92}, {'connected_gene': 'GC11P118174', 'score': 0.77}, {'connected_gene': 'SCN4B', 'score': 0.37}]
chr11	GH11I117872	117872223	117878421	2.26	[{'connected_gene': 'FXYD6', 'score': 567.62}, {'connected_gene': 'FXYD6-FXYD2', 'score': 550.77}, {'connected_gene': 'MPZL2', 'score': 14.0}, {'connected_gene': 'DSCAML1', 'score': 10.26}, {'connected_gene': 'ENSG00000254528', 'score': 4.91}, {'connected_gene': 'SCN4B', 'score': 2.83}, {'connected_gene': 'SCN2B', 'score': 2.62}]
chr11	GH11I118165	118165770	118166626	0.52	[{'connected_gene': 'CD3G', 'score': 10.66}, {'connected_gene': 'CD3D', 'score': 10.66}, {'connected_gene': 'CD3E', 'score': 10.65}, {'connected_gene': 'TMPRSS13', 'score': 9.68}, {'connected_gene': 'TMPRSS4', 'score': 4.94}, {'connected_gene': 'GC11P118174', 'score': 0.44}, {'connected_gene': 'SCN2B', 'score': 0.39}, {'connected_gene': 'SCN4B', 'score': 0.39}]
chr11	GH11I118204	118204939	118207599	0.94	[{'connected_gene': 'MPZL3', 'score': 16.51}, {'connected_gene': 'JAML', 'score': 13.86}, {'connected_gene': 'CD3G', 'score': 12.0}, {'connected_gene': 'CD3D', 'score': 12.0}, {'connected_gene': 'CD3E', 'score': 11.12}, {'connected_gene': 'IFT46', 'score': 4.21}, {'connected_gene': 'HSPE1P18', 'score': 0.77}, {'connected_gene': 'GC11M118201', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.31}]
chr11	GH11I118238	118238001	118243121	1.75	[{'connected_gene': 'JAML', 'score': 32.31}, {'connected_gene': 'MPZL3', 'score': 25.47}, {'connected_gene': 'ENSG00000254909', 'score': 18.17}, {'connected_gene': 'UBE4A', 'score': 17.71}, {'connected_gene': 'BCL9L', 'score': 17.45}, {'connected_gene': 'ARCN1', 'score': 16.84}, {'connected_gene': 'RPL23AP64', 'score': 16.72}, {'connected_gene': 'ENSG00000254428', 'score': 14.43}, {'connected_gene': 'DPAGT1', 'score': 13.38}, {'connected_gene': 'CD3E', 'score': 12.95}, {'connected_gene': 'IL10RA', 'score': 12.5}, {'connected_gene': 'RPS25', 'score': 10.88}, {'connected_gene': 'DDX6', 'score': 9.85}, {'connected_gene': 'SCN2B', 'score': 9.53}, {'connected_gene': 'MPZL2', 'score': 5.5}, {'connected_gene': 'CD3G', 'score': 2.35}, {'connected_gene': 'CD3D', 'score': 1.66}, {'connected_gene': 'PIR54688', 'score': 0.39}, {'connected_gene': 'GC11M118231', 'score': 0.39}]
chr11	GH11I118223	118223109	118230397	2.03	[{'connected_gene': 'JAML', 'score': 550.77}, {'connected_gene': 'PIR47429', 'score': 550.77}, {'connected_gene': 'MPZL3', 'score': 21.45}, {'connected_gene': 'SCN2B', 'score': 9.85}, {'connected_gene': 'MPZL2', 'score': 5.37}, {'connected_gene': 'GC11M118231', 'score': 0.77}, {'connected_gene': 'GC11M118234', 'score': 0.77}, {'connected_gene': 'PIR54688', 'score': 0.77}]
chr11	GH11I118200	118200481	118204187	1.11	[{'connected_gene': 'JAML', 'score': 17.61}, {'connected_gene': 'MPZL3', 'score': 15.37}, {'connected_gene': 'MPZL2', 'score': 6.28}, {'connected_gene': 'TRAPPC4', 'score': 4.36}, {'connected_gene': 'HSPE1P18', 'score': 0.44}, {'connected_gene': 'GC11M118201', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.31}]
chr11	GH11I118194	118194010	118196137	1.58	[{'connected_gene': 'JAML', 'score': 12.84}, {'connected_gene': 'MPZL3', 'score': 12.65}, {'connected_gene': 'MPZL2', 'score': 5.24}, {'connected_gene': 'HSPE1P18', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.37}]
chr11	GH11I118196	118196393	118197461	0.2	[{'connected_gene': 'JAML', 'score': 14.44}, {'connected_gene': 'HSPE1P18', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.34}]
chr11	GH11I118198	118198326	118199204	1.22	[{'connected_gene': 'JAML', 'score': 15.4}, {'connected_gene': 'MPZL2', 'score': 6.19}, {'connected_gene': 'HSPE1P18', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.34}]
chr11	GH11I118413	118413397	118416667	1.39	[{'connected_gene': 'ENSG00000269944', 'score': 550.77}, {'connected_gene': 'MPZL2', 'score': 14.05}, {'connected_gene': 'ENSG00000245869', 'score': 13.22}, {'connected_gene': 'BCL9L', 'score': 13.16}, {'connected_gene': 'ARCN1', 'score': 13.06}, {'connected_gene': 'DDX6', 'score': 12.41}, {'connected_gene': 'UBE4A', 'score': 12.26}, {'connected_gene': 'ENSG00000254909', 'score': 11.0}, {'connected_gene': 'RNF26', 'score': 10.28}, {'connected_gene': 'RPL23AP64', 'score': 10.18}, {'connected_gene': 'RPS25', 'score': 10.1}, {'connected_gene': 'SCN2B', 'score': 8.1}, {'connected_gene': 'IFT46', 'score': 6.75}, {'connected_gene': 'LOC100131626', 'score': 0.77}, {'connected_gene': 'ENSG00000254873', 'score': 0.39}, {'connected_gene': 'ATP5MG', 'score': 0.39}]