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
ENST00000333762	[[129033614, 129035120]]	[[129034103, 129034745]]
NM_006026	[[129033613, 129035120]]	[[129034103, 129034745]]

Promoter

Chrom	Start	End	Description
chr3	129035121	129035136	CAGE_peak_1_at_H1FX_5end
chr3	129035502	129035578	CAGE_peak_2_at_H1FX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I129428	129428118	129429957	1.9	[{'connected_gene': 'EFCAB12', 'score': 557.34}, {'connected_gene': 'ENSG00000244932', 'score': 17.99}, {'connected_gene': 'RPL32P3', 'score': 14.82}, {'connected_gene': 'ISY1', 'score': 14.55}, {'connected_gene': 'H1FX', 'score': 13.5}, {'connected_gene': 'MBD4', 'score': 12.95}, {'connected_gene': 'COPG1', 'score': 12.16}, {'connected_gene': 'RPS15AP16', 'score': 11.46}, {'connected_gene': 'IFT122', 'score': 8.7}]
chr3	GH03I129309	129309521	129318279	2.27	[{'connected_gene': 'H1FX', 'score': 562.07}, {'connected_gene': 'H1FX-AS1', 'score': 555.41}, {'connected_gene': 'HMCES', 'score': 29.36}, {'connected_gene': 'ISY1', 'score': 24.06}, {'connected_gene': 'RPL32P3', 'score': 12.69}, {'connected_gene': 'ENSG00000244932', 'score': 10.02}, {'connected_gene': 'MBD4', 'score': 4.49}, {'connected_gene': 'ENSG00000261159', 'score': 4.04}, {'connected_gene': 'GC03M129283', 'score': 0.39}]
chr3	GH03I129159	129159376	129163731	2.29	[{'connected_gene': 'ISY1', 'score': 562.13}, {'connected_gene': 'ISY1-RAB43', 'score': 550.77}, {'connected_gene': 'RPL32P3', 'score': 22.43}, {'connected_gene': 'ENSG00000244932', 'score': 17.31}, {'connected_gene': 'H1FX-AS1', 'score': 12.57}, {'connected_gene': 'CNBP', 'score': 10.4}, {'connected_gene': 'H1FX', 'score': 9.88}, {'connected_gene': 'ENSG00000273437', 'score': 0.77}, {'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'GC03P129797', 'score': 0.37}]
chr3	GH03I129277	129277667	129280720	1.98	[{'connected_gene': 'HMCES', 'score': 579.85}, {'connected_gene': 'ISY1', 'score': 17.5}, {'connected_gene': 'MBD4', 'score': 16.66}, {'connected_gene': 'ENSG00000244932', 'score': 14.15}, {'connected_gene': 'RPL32P3', 'score': 12.77}, {'connected_gene': 'H1FX', 'score': 11.63}, {'connected_gene': 'RPS15AP16', 'score': 11.47}, {'connected_gene': 'CNBP', 'score': 10.63}, {'connected_gene': 'COPG1', 'score': 10.55}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'ACAD9', 'score': 6.89}, {'connected_gene': 'RAB7A', 'score': 4.09}, {'connected_gene': 'GC03M129283', 'score': 0.34}]
chr3	GH03I129275	129275982	129277319	0.77	[{'connected_gene': 'HMCES', 'score': 29.85}, {'connected_gene': 'H1FX-AS1', 'score': 11.95}, {'connected_gene': 'H1FX', 'score': 11.95}, {'connected_gene': 'NUP210P3', 'score': 11.92}, {'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'RAB43', 'score': 10.81}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RPL32P3', 'score': 5.58}, {'connected_gene': 'MIR6826', 'score': 0.77}, {'connected_gene': 'COPG1', 'score': 0.31}]
chr3	GH03I129116	129116131	129124027	2.68	[{'connected_gene': 'RAB43', 'score': 562.97}, {'connected_gene': 'KIAA1257', 'score': 33.4}, {'connected_gene': 'ISY1', 'score': 14.01}, {'connected_gene': 'GP9', 'score': 13.55}, {'connected_gene': 'EFCC1', 'score': 10.74}, {'connected_gene': 'MBD4', 'score': 6.86}, {'connected_gene': 'ACAD9', 'score': 5.66}, {'connected_gene': 'RPL32P3', 'score': 4.89}, {'connected_gene': 'HMCES', 'score': 4.3}, {'connected_gene': 'CNBP', 'score': 2.8}, {'connected_gene': 'H1FX', 'score': 2.69}, {'connected_gene': 'RAB7A', 'score': 1.38}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.26}]
chr3	GH03I128877	128877729	128881374	2.11	[{'connected_gene': 'ACAD9', 'score': 573.47}, {'connected_gene': 'PIR50406', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 39.18}, {'connected_gene': 'RPL32P3', 'score': 38.41}, {'connected_gene': 'ISY1', 'score': 29.64}, {'connected_gene': 'H1FX', 'score': 20.52}, {'connected_gene': 'LOC653712', 'score': 17.08}, {'connected_gene': 'H1FX-AS1', 'score': 14.83}, {'connected_gene': 'MBD4', 'score': 14.02}, {'connected_gene': 'RPS15AP16', 'score': 11.61}, {'connected_gene': 'RUVBL1', 'score': 10.98}, {'connected_gene': 'EEFSEC', 'score': 10.83}, {'connected_gene': 'EFCC1', 'score': 10.7}, {'connected_gene': 'COPG1', 'score': 10.29}, {'connected_gene': 'RPN1', 'score': 9.8}, {'connected_gene': 'RAB7A', 'score': 7.74}]
chr3	GH03I129575	129575401	129579658	1.51	[{'connected_gene': 'PLXND1', 'score': 5.58}, {'connected_gene': 'ENSG00000250796', 'score': 4.9}, {'connected_gene': 'IFT122', 'score': 4.32}, {'connected_gene': 'EFCAB12', 'score': 4.18}, {'connected_gene': 'HMCES', 'score': 3.09}, {'connected_gene': 'H1FX', 'score': 2.79}, {'connected_gene': 'RAB43', 'score': 2.02}, {'connected_gene': 'MBD4', 'score': 1.57}, {'connected_gene': 'GC03M129561', 'score': 0.39}, {'connected_gene': 'RN7SL752P', 'score': 0.39}]
chr3	GH03I129398	129398174	129400372	1.54	[{'connected_gene': 'RPL32P3', 'score': 576.33}, {'connected_gene': 'GC03M129400', 'score': 550.77}, {'connected_gene': 'SNORA7B', 'score': 550.77}, {'connected_gene': 'IFT122', 'score': 20.22}, {'connected_gene': 'ISY1', 'score': 13.76}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'MBD4', 'score': 11.35}, {'connected_gene': 'RHO', 'score': 10.27}, {'connected_gene': 'ENSG00000244932', 'score': 10.19}, {'connected_gene': 'CNBP', 'score': 10.13}, {'connected_gene': 'LINC02021', 'score': 4.83}, {'connected_gene': 'EFCAB12', 'score': 4.83}, {'connected_gene': 'GC03P129796', 'score': 0.34}]
chr3	GH03I129447	129447206	129451240	1.5	[{'connected_gene': 'RPL32P3', 'score': 43.43}, {'connected_gene': 'ISY1', 'score': 26.01}, {'connected_gene': 'ENSG00000244932', 'score': 21.5}, {'connected_gene': 'H1FX', 'score': 20.54}, {'connected_gene': 'RHO', 'score': 11.03}, {'connected_gene': 'PLXND1', 'score': 10.56}, {'connected_gene': 'IFT122', 'score': 9.84}, {'connected_gene': 'ACAD9', 'score': 4.06}, {'connected_gene': 'MBD4', 'score': 0.44}, {'connected_gene': 'GC03P129770', 'score': 0.29}, {'connected_gene': 'PIR50923', 'score': 0.29}, {'connected_gene': 'GC03P129766', 'score': 0.29}]
chr3	GH03I129178	129178341	129186747	2.27	[{'connected_gene': 'LOC105374101', 'score': 550.77}, {'connected_gene': 'CNBP', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 22.16}, {'connected_gene': 'RPL32P3', 'score': 21.62}, {'connected_gene': 'ISY1', 'score': 20.17}, {'connected_gene': 'MBD4', 'score': 14.06}, {'connected_gene': 'RPS15AP16', 'score': 11.48}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'H1FX-AS1', 'score': 10.91}, {'connected_gene': 'COPG1', 'score': 10.45}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'RAB7A', 'score': 5.61}, {'connected_gene': 'EFCC1', 'score': 4.16}, {'connected_gene': 'GC03M129158', 'score': 0.39}]
chr3	GH03I128481	128481848	128493649	2.24	[{'connected_gene': 'GATA2-AS1', 'score': 558.69}, {'connected_gene': 'GATA2', 'score': 550.44}, {'connected_gene': 'RPL32P3', 'score': 23.49}, {'connected_gene': 'ISY1', 'score': 13.72}, {'connected_gene': 'TPRA1', 'score': 12.95}, {'connected_gene': 'DNAJB8', 'score': 12.61}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.97}, {'connected_gene': 'H1FX', 'score': 11.32}, {'connected_gene': 'H1FX-AS1', 'score': 10.93}, {'connected_gene': 'IFT122', 'score': 10.85}, {'connected_gene': 'ENSG00000244932', 'score': 9.85}, {'connected_gene': 'TMED10P2', 'score': 6.26}, {'connected_gene': 'POU5F1P6', 'score': 4.39}]
chr3	GH03I129365	129365663	129366710	0.31	[{'connected_gene': 'LOC100421508', 'score': 23.45}, {'connected_gene': 'NUP210P3', 'score': 12.61}, {'connected_gene': 'H1FX', 'score': 12.6}, {'connected_gene': 'H1FX-AS1', 'score': 12.58}, {'connected_gene': 'MBD4', 'score': 10.69}, {'connected_gene': 'IFT122', 'score': 10.69}, {'connected_gene': 'HMCES', 'score': 9.36}, {'connected_gene': 'GC03P129796', 'score': 0.44}]
chr3	GH03I129907	129907921	129909147	0.79	[{'connected_gene': 'ENSG00000244932', 'score': 17.77}, {'connected_gene': 'RPL32P3', 'score': 14.54}, {'connected_gene': 'ISY1', 'score': 14.52}, {'connected_gene': 'PIK3R4', 'score': 14.26}, {'connected_gene': 'H1FX', 'score': 13.39}, {'connected_gene': 'MBD4', 'score': 12.6}, {'connected_gene': 'COPG1', 'score': 12.09}, {'connected_gene': 'ENSG00000203644', 'score': 4.22}, {'connected_gene': 'TMCC1-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000250643', 'score': 0.21}, {'connected_gene': 'GC03P129794', 'score': 0.06}]