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
ENST00000259873	[[30585485, 30585720], [30587269, 30587378], [30587485, 30587583], [30587697, 30587766], [30590608, 30590675], [30592659, 30592719], [30593278, 30594172]]	[[30585642, 30585720], [30587269, 30587378], [30587485, 30587583], [30587697, 30587766], [30590608, 30590675], [30592659, 30592719], [30593278, 30593574]]
ENST00000492316	[[30585619, 30585720], [30587269, 30587378], [30587485, 30587583], [30587697, 30587901]]	None
ENST00000506373	[[30585623, 30585720], [30587269, 30587378], [30587485, 30587583], [30587697, 30587766], [30592659, 30592719], [30593278, 30594058]]	[[30585642, 30585720], [30587269, 30587378], [30587485, 30587583], [30587697, 30587766], [30592659, 30592671]]
ENST00000472267	[[30585628, 30585720], [30587269, 30587766], [30590608, 30590675], [30592659, 30592719], [30593278, 30594172]]	None
ENST00000472229	[[30585636, 30585720], [30587269, 30587378], [30587457, 30587583], [30587697, 30587766], [30590608, 30590675], [30592659, 30592719], [30593278, 30594172]]	None
NM_014046	[[30585485, 30585720], [30587269, 30587378], [30587485, 30587583], [30587697, 30587766], [30590608, 30590675], [30592659, 30592719], [30593278, 30594174]]	[[30585642, 30585720], [30587269, 30587378], [30587485, 30587583], [30587697, 30587766], [30590608, 30590675], [30592659, 30592719], [30593278, 30593574]]
NM_014046	[[2097538, 2097773], [2099322, 2099431], [2099538, 2099636], [2099750, 2099819], [2102661, 2102728], [2104712, 2104772], [2105331, 2106227]]	[[2097695, 2097773], [2099322, 2099431], [2099538, 2099636], [2099750, 2099819], [2102661, 2102728], [2104712, 2104772], [2105331, 2105627]]
NM_014046	[[1879123, 1879358], [1880907, 1881016], [1881123, 1881221], [1881335, 1881404], [1884246, 1884313], [1886297, 1886357], [1886916, 1887812]]	[[1879280, 1879358], [1880907, 1881016], [1881123, 1881221], [1881335, 1881404], [1884246, 1884313], [1886297, 1886357], [1886916, 1887212]]
NM_014046	[[1967341, 1967576], [1969125, 1969234], [1969341, 1969439], [1969553, 1969622], [1972464, 1972531], [1974515, 1974575], [1975134, 1976030]]	[[1967498, 1967576], [1969125, 1969234], [1969341, 1969439], [1969553, 1969622], [1972464, 1972531], [1974515, 1974575], [1975134, 1975430]]
NM_014046	[[1878392, 1878627], [1880176, 1880285], [1880392, 1880490], [1880604, 1880673], [1883515, 1883582], [1885566, 1885626], [1886185, 1887081]]	[[1878549, 1878627], [1880176, 1880285], [1880392, 1880490], [1880604, 1880673], [1883515, 1883582], [1885566, 1885626], [1886185, 1886481]]
NM_014046	[[1933557, 1933792], [1935341, 1935450], [1935557, 1935655], [1935769, 1935838], [1938680, 1938747], [1940731, 1940791], [1941350, 1942246]]	[[1933714, 1933792], [1935341, 1935450], [1935557, 1935655], [1935769, 1935838], [1938680, 1938747], [1940731, 1940791], [1941350, 1941646]]
NM_014046	[[1917764, 1917999], [1919548, 1919657], [1919764, 1919862], [1919976, 1920045], [1922887, 1922954], [1924938, 1924998], [1925557, 1926453]]	[[1917921, 1917999], [1919548, 1919657], [1919764, 1919862], [1919976, 1920045], [1922887, 1922954], [1924938, 1924998], [1925557, 1925853]]

Promoter

Chrom	Start	End	Description
chr6	30585602	30585645	CAGE_peak_1_at_MRPS18B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I030655	30655890	30657998	0.57	[{'connected_gene': 'DHX16', 'score': 16.96}, {'connected_gene': 'PTMAP1', 'score': 12.25}, {'connected_gene': 'ATAT1', 'score': 12.21}, {'connected_gene': 'MRPS18B', 'score': 12.19}, {'connected_gene': 'PPP1R10', 'score': 12.19}, {'connected_gene': 'MDC1', 'score': 11.36}, {'connected_gene': 'MIR877', 'score': 10.87}, {'connected_gene': 'ABCF1', 'score': 10.84}, {'connected_gene': 'C6orf136', 'score': 0.44}]
chr6	GH06I030625	30625611	30627860	2.01	[{'connected_gene': 'ATAT1', 'score': 550.77}, {'connected_gene': 'PIR40859', 'score': 550.77}, {'connected_gene': 'DHX16', 'score': 11.2}, {'connected_gene': 'ABCF1', 'score': 9.98}, {'connected_gene': 'HLA-L', 'score': 5.29}, {'connected_gene': 'HLA-J', 'score': 5.01}, {'connected_gene': 'MRPS18B', 'score': 0.44}, {'connected_gene': 'PPP1R10', 'score': 0.44}]
chr6	GH06I030624	30624299	30625414	0.2	[{'connected_gene': 'ATAT1', 'score': 550.77}, {'connected_gene': 'DHX16', 'score': 11.18}, {'connected_gene': 'ABCF1', 'score': 10.03}, {'connected_gene': 'MRPS18B', 'score': 0.44}, {'connected_gene': 'PPP1R10', 'score': 0.44}]
chr6	GH06I030602	30602518	30605483	0.46	[{'connected_gene': 'ATAT1', 'score': 12.31}, {'connected_gene': 'PRR3', 'score': 12.3}, {'connected_gene': 'GNL1', 'score': 12.3}, {'connected_gene': 'PTMAP1', 'score': 12.29}, {'connected_gene': 'C6orf136', 'score': 11.28}, {'connected_gene': 'ABCF1', 'score': 10.08}, {'connected_gene': 'ZFP57', 'score': 9.69}, {'connected_gene': 'HLA-L', 'score': 5.06}, {'connected_gene': 'MRPS18B', 'score': 0.39}, {'connected_gene': 'PPP1R10', 'score': 0.39}, {'connected_gene': 'PIR62319', 'score': 0.39}]
chr6	GH06I030601	30601170	30602046	0.72	[{'connected_gene': 'ATAT1', 'score': 12.8}, {'connected_gene': 'PTMAP1', 'score': 12.78}, {'connected_gene': 'PRR3', 'score': 12.32}, {'connected_gene': 'GNL1', 'score': 12.32}, {'connected_gene': 'C6orf136', 'score': 11.77}, {'connected_gene': 'MDC1-AS1', 'score': 11.06}, {'connected_gene': 'MDC1', 'score': 11.03}, {'connected_gene': 'IFITM4P', 'score': 4.56}, {'connected_gene': 'PIR62319', 'score': 0.39}, {'connected_gene': 'MRPS18B', 'score': 0.37}, {'connected_gene': 'PPP1R10', 'score': 0.37}]
chr6	GH06I030597	30597404	30597613	0.88	[{'connected_gene': 'PPP1R10', 'score': 12.82}, {'connected_gene': 'ATAT1', 'score': 12.8}, {'connected_gene': 'PTMAP1', 'score': 12.76}, {'connected_gene': 'GNL1', 'score': 12.3}, {'connected_gene': 'PRR3', 'score': 12.28}, {'connected_gene': 'C6orf136', 'score': 11.77}, {'connected_gene': 'MDC1-AS1', 'score': 11.05}, {'connected_gene': 'MDC1', 'score': 11.03}, {'connected_gene': 'ABCF1', 'score': 10.21}, {'connected_gene': 'PIR62319', 'score': 0.44}, {'connected_gene': 'MRPS18B', 'score': 0.37}]
chr6	GH06I030611	30611201	30619903	2.55	[{'connected_gene': 'PPP1R10', 'score': 631.56}, {'connected_gene': 'MRPS18B', 'score': 550.77}, {'connected_gene': 'DDX39B', 'score': 94.78}, {'connected_gene': 'MDC1', 'score': 79.72}, {'connected_gene': 'TRIM39', 'score': 78.86}, {'connected_gene': 'ABCF1', 'score': 66.25}, {'connected_gene': 'NRM', 'score': 63.85}, {'connected_gene': 'DHX16', 'score': 58.47}, {'connected_gene': 'ZNRD1', 'score': 54.79}, {'connected_gene': 'TRIM26', 'score': 51.59}, {'connected_gene': 'PAIP1P1', 'score': 44.08}, {'connected_gene': 'RPL3P2', 'score': 43.8}, {'connected_gene': 'NFKBIL1', 'score': 42.18}, {'connected_gene': 'GTF2H4', 'score': 40.84}, {'connected_gene': 'HLA-F-AS1', 'score': 33.82}, {'connected_gene': 'TCF19', 'score': 33.25}, {'connected_gene': 'ETF1P1', 'score': 32.61}, {'connected_gene': 'HLA-W', 'score': 31.47}, {'connected_gene': 'MICA', 'score': 31.24}, {'connected_gene': 'HCG18', 'score': 28.38}, {'connected_gene': 'HLA-U', 'score': 28.29}, {'connected_gene': 'HCG4P7', 'score': 27.03}, {'connected_gene': 'HLA-H', 'score': 27.02}, {'connected_gene': 'MICE', 'score': 25.73}, {'connected_gene': 'HLA-K', 'score': 19.87}, {'connected_gene': 'ENSG00000272540', 'score': 19.27}, {'connected_gene': 'HLA-J', 'score': 13.08}, {'connected_gene': 'MIR877', 'score': 12.84}, {'connected_gene': 'HCG4P3', 'score': 11.99}, {'connected_gene': 'C6orf136', 'score': 11.75}, {'connected_gene': 'ZNRD1ASP', 'score': 11.23}, {'connected_gene': 'HCG9P5', 'score': 10.6}, {'connected_gene': 'ATAT1', 'score': 10.59}, {'connected_gene': 'ZFP57', 'score': 10.37}, {'connected_gene': 'HCG4B', 'score': 10.31}, {'connected_gene': 'CCHCR1', 'score': 10.28}, {'connected_gene': 'ENSG00000199332', 'score': 10.21}, {'connected_gene': 'LTB', 'score': 10.13}, {'connected_gene': 'MICD', 'score': 10.07}, {'connected_gene': 'PIR62319', 'score': 0.34}]
chr6	GH06I030541	30541064	30544737	1.35	[{'connected_gene': 'ABCF1', 'score': 31.85}, {'connected_gene': 'PPP1R10', 'score': 27.76}, {'connected_gene': 'TRIM39', 'score': 18.03}, {'connected_gene': 'DHX16', 'score': 17.71}, {'connected_gene': 'MDC1', 'score': 15.55}, {'connected_gene': 'ZNRD1', 'score': 13.7}, {'connected_gene': 'DDX39B', 'score': 13.61}, {'connected_gene': 'PAIP1P1', 'score': 13.3}, {'connected_gene': 'TRIM26', 'score': 13.2}, {'connected_gene': 'LINC02569', 'score': 13.08}, {'connected_gene': 'MIR877', 'score': 12.03}, {'connected_gene': 'HCG4P3', 'score': 11.99}, {'connected_gene': 'ETF1P1', 'score': 11.56}, {'connected_gene': 'MRPS18B', 'score': 11.49}, {'connected_gene': 'ATAT1', 'score': 11.47}, {'connected_gene': 'PTMAP1', 'score': 11.46}, {'connected_gene': 'C6orf136', 'score': 11.23}, {'connected_gene': 'NRM', 'score': 10.79}, {'connected_gene': 'GTF2H4', 'score': 10.65}, {'connected_gene': 'HLA-C', 'score': 10.65}, {'connected_gene': 'CCHCR1', 'score': 10.28}, {'connected_gene': 'HCG4', 'score': 4.7}, {'connected_gene': 'PRR3', 'score': 0.39}, {'connected_gene': 'GNL1', 'score': 0.39}, {'connected_gene': 'GC06M030528', 'score': 0.39}]
chr6	GH06I030605	30605942	30606557	0.31	[{'connected_gene': 'ABCF1', 'score': 22.63}, {'connected_gene': 'MIR877', 'score': 12.89}, {'connected_gene': 'ATAT1', 'score': 12.31}, {'connected_gene': 'PRR3', 'score': 12.3}, {'connected_gene': 'GNL1', 'score': 12.3}, {'connected_gene': 'PTMAP1', 'score': 12.29}, {'connected_gene': 'C6orf136', 'score': 11.57}, {'connected_gene': 'PSORS1C3', 'score': 10.16}, {'connected_gene': 'IFITM4P', 'score': 4.17}, {'connected_gene': 'MRPS18B', 'score': 0.39}, {'connected_gene': 'PPP1R10', 'score': 0.39}, {'connected_gene': 'PIR62319', 'score': 0.37}]
chr6	GH06I030609	30609271	30611105	0.38	[{'connected_gene': 'ABCF1', 'score': 22.61}, {'connected_gene': 'MIR877', 'score': 12.86}, {'connected_gene': 'C6orf136', 'score': 11.59}, {'connected_gene': 'PSORS1C3', 'score': 6.63}, {'connected_gene': 'ZNRD1ASP', 'score': 4.83}, {'connected_gene': 'MRPS18B', 'score': 0.44}, {'connected_gene': 'PPP1R10', 'score': 0.44}, {'connected_gene': 'PIR62319', 'score': 0.37}]
chr6	GH06I030607	30607405	30608142	0.31	[{'connected_gene': 'MIR877', 'score': 12.89}, {'connected_gene': 'ABCF1', 'score': 12.82}, {'connected_gene': 'C6orf136', 'score': 11.59}, {'connected_gene': 'HCG4', 'score': 7.47}, {'connected_gene': 'MRPS18B', 'score': 0.44}, {'connected_gene': 'PPP1R10', 'score': 0.39}, {'connected_gene': 'PIR62319', 'score': 0.37}]
chr6	GH06I030735	30735673	30738546	1.23	[{'connected_gene': 'ENSG00000201988', 'score': 550.77}, {'connected_gene': 'GC06M030736', 'score': 550.77}, {'connected_gene': 'PTMAP1', 'score': 12.06}, {'connected_gene': 'ATAT1', 'score': 12.05}, {'connected_gene': 'PPP1R10', 'score': 12.04}, {'connected_gene': 'MRPS18B', 'score': 12.04}, {'connected_gene': 'PSORS1C2', 'score': 11.17}, {'connected_gene': 'MDC1-AS1', 'score': 11.17}, {'connected_gene': 'C6orf136', 'score': 11.04}, {'connected_gene': 'DHX16', 'score': 5.85}, {'connected_gene': 'VARS2', 'score': 5.33}, {'connected_gene': 'TRIM31', 'score': 5.24}, {'connected_gene': 'HLA-G', 'score': 5.02}, {'connected_gene': 'HLA-V', 'score': 4.96}, {'connected_gene': 'FLOT1', 'score': 4.86}, {'connected_gene': 'CCHCR1', 'score': 4.47}]
chr6	GH06I030589	30589824	30592244	0.69	[{'connected_gene': 'PIR62319', 'score': 550.77}, {'connected_gene': 'ABCF1', 'score': 10.15}, {'connected_gene': 'MRPS18B', 'score': 0.31}]