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
ENST00000481295	[[34379016, 34379179], [34379643, 34379773]]	None
ENST00000379124	[[34379016, 34379179], [34379643, 34379730], [34380894, 34381129], [34381366, 34381529]]	[[34379073, 34379179], [34379643, 34379730], [34380894, 34381129], [34381366, 34381433]]
ENST00000379126	[[34379016, 34379179], [34379643, 34379730], [34381053, 34381129], [34381366, 34381536]]	[[34379073, 34379179], [34379643, 34379730], [34381053, 34381129], [34381366, 34381433]]
ENST00000379127	[[34379016, 34379179], [34379643, 34379730], [34380894, 34381129], [34381366, 34381442], [34381523, 34381558]]	[[34379073, 34379179], [34379643, 34379730], [34380894, 34381129], [34381366, 34381433]]
ENST00000379133	[[34379016, 34379179], [34379643, 34379730], [34380899, 34381129], [34381366, 34381598]]	[[34379643, 34379730], [34380899, 34381129], [34381366, 34381433]]
ENST00000297623	[[34379016, 34379179], [34379643, 34379730], [34380899, 34381129], [34381366, 34381442], [34382751, 34382867], [34385634, 34385779], [34397496, 34397830]]	[[34379643, 34379730], [34380899, 34381129], [34381366, 34381442], [34382751, 34382867], [34385634, 34385779], [34397496, 34397631]]
ENST00000444429	[[34382667, 34382867], [34385634, 34385779], [34397496, 34397527]]	[[34382667, 34382867], [34385634, 34385779], [34397496, 34397527]]
NM_147168	[[34379016, 34379179], [34379643, 34379730], [34380899, 34381129], [34381366, 34381598]]	[[34379643, 34379730], [34380899, 34381129], [34381366, 34381433]]
NM_147169	[[34379016, 34379179], [34379643, 34379730], [34381053, 34381129], [34381366, 34381598]]	[[34379073, 34379179], [34379643, 34379730], [34381053, 34381129], [34381366, 34381433]]
NM_001252195	[[34379016, 34379179], [34379643, 34379730], [34380894, 34381129], [34381366, 34381442], [34381523, 34381598]]	[[34379073, 34379179], [34379643, 34379730], [34380894, 34381129], [34381366, 34381433]]
NM_032596	[[34379016, 34379179], [34379643, 34379730], [34380899, 34381129], [34381366, 34381442], [34382751, 34382867], [34385634, 34385779], [34397496, 34397849]]	[[34379643, 34379730], [34380899, 34381129], [34381366, 34381442], [34382751, 34382867], [34385634, 34385779], [34397496, 34397631]]

Promoter

Chrom	Start	End	Description
chr9	34381453	34381479	CAGE_peak_3_at_C9orf24_5end
chr9	34381482	34381503	CAGE_peak_4_at_C9orf24_5end
chr9	34381511	34381522	CAGE_peak_8_at_C9orf24_5end
chr9	34381538	34381602	CAGE_peak_1_at_C9orf24_5end
chr9	34397787	34397798	CAGE_peak_10_at_C9orf24_5end
chr9	34397800	34397813	CAGE_peak_6_at_C9orf24_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I034382	34381503	34381672	1.13	[{'connected_gene': 'C9orf24', 'score': 550.37}, {'connected_gene': 'MYORG', 'score': 0.77}, {'connected_gene': 'GC09M034390', 'score': 0.44}, {'connected_gene': 'ENSG00000207032', 'score': 0.44}]
chr9	GH09I034403	34403883	34404032	0.69	[{'connected_gene': 'C9orf24', 'score': 0.44}, {'connected_gene': 'DNAI1', 'score': 0.23}, {'connected_gene': 'FAM219A', 'score': 0.23}]
chr9	GH09I034397	34397800	34397859	0.5	[{'connected_gene': 'C9orf24', 'score': 550.77}, {'connected_gene': 'GC09M034390', 'score': 0.44}, {'connected_gene': 'ENSG00000207032', 'score': 0.44}]
chr9	GH09I034332	34332463	34332632	0.65	[{'connected_gene': 'MYORG', 'score': 12.15}, {'connected_gene': 'C9orf24', 'score': 12.09}, {'connected_gene': 'CNTFR', 'score': 10.44}, {'connected_gene': 'NUDT2', 'score': 0.77}, {'connected_gene': 'GC09P034356', 'score': 0.34}, {'connected_gene': 'KIF24', 'score': 0.31}]
chr9	GH09I034346	34346820	34348037	0.83	[{'connected_gene': 'MYORG', 'score': 11.88}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.09}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'KIF24', 'score': 8.12}, {'connected_gene': 'GC09P034356', 'score': 0.44}, {'connected_gene': 'NUDT2', 'score': 0.37}]
chr9	GH09I034381	34381443	34381449	0.63	[{'connected_gene': 'MYORG', 'score': 0.77}, {'connected_gene': 'GC09M034390', 'score': 0.44}, {'connected_gene': 'ENSG00000207032', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.37}]
chr9	GH09I034046	34046773	34050698	2.08	[{'connected_gene': 'UBAP2', 'score': 562.24}, {'connected_gene': 'RN7SKP114', 'score': 550.77}, {'connected_gene': 'SMU1', 'score': 43.04}, {'connected_gene': 'ENSG00000228352', 'score': 38.55}, {'connected_gene': 'NFX1', 'score': 19.19}, {'connected_gene': 'NOL6', 'score': 11.82}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'UBE2R2', 'score': 8.43}, {'connected_gene': 'PRSS3', 'score': 7.6}, {'connected_gene': 'ENSG00000260947', 'score': 7.0}, {'connected_gene': 'KIF24', 'score': 6.13}, {'connected_gene': 'C9orf24', 'score': 4.66}, {'connected_gene': 'DCAF12', 'score': 4.63}, {'connected_gene': 'OSTCP8', 'score': 4.26}, {'connected_gene': 'PIR49648', 'score': 0.39}]
chr9	GH09I033839	33839568	33840995	0.2	[{'connected_gene': 'UBE2R2', 'score': 19.38}, {'connected_gene': 'SNORD121B', 'score': 10.63}, {'connected_gene': 'UBAP2', 'score': 10.55}, {'connected_gene': 'SNORD121A', 'score': 10.1}, {'connected_gene': 'ENSG00000260947', 'score': 8.06}, {'connected_gene': 'C9orf24', 'score': 4.27}, {'connected_gene': 'ENSG00000200834', 'score': 0.44}, {'connected_gene': 'GC09P034128', 'score': 0.31}]
chr9	GH09I034452	34452223	34452410	0.22	[{'connected_gene': 'ENHO', 'score': 12.23}, {'connected_gene': 'CNTFR', 'score': 11.78}, {'connected_gene': 'RPP25L', 'score': 11.01}, {'connected_gene': 'ENSG00000230729', 'score': 10.73}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'NUDT2', 'score': 6.5}, {'connected_gene': 'ARID3C', 'score': 5.97}, {'connected_gene': 'FAM219A', 'score': 1.82}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9	GH09I034290	34290801	34291200	0.2	[{'connected_gene': 'NUDT2', 'score': 12.0}, {'connected_gene': 'C9orf24', 'score': 10.28}, {'connected_gene': 'MYORG', 'score': 10.22}, {'connected_gene': 'CNTFR', 'score': 10.19}, {'connected_gene': 'ENSG00000228352', 'score': 10.05}, {'connected_gene': 'SNORD121A', 'score': 9.12}, {'connected_gene': 'GC09M034282', 'score': 0.44}, {'connected_gene': 'SERPINH1P1', 'score': 0.31}, {'connected_gene': 'KIF24', 'score': 0.2}]
chr9	GH09I034372	34372400	34373431	0.49	[{'connected_gene': 'NUDT2', 'score': 31.68}, {'connected_gene': 'C9orf24', 'score': 12.27}, {'connected_gene': 'RNU2-50P', 'score': 10.51}, {'connected_gene': 'DNAI1', 'score': 10.13}, {'connected_gene': 'FAM219A', 'score': 10.12}, {'connected_gene': 'RPP25L', 'score': 9.94}, {'connected_gene': 'KIF24', 'score': 8.67}, {'connected_gene': 'UBAP1', 'score': 7.8}, {'connected_gene': 'MYORG', 'score': 0.77}]
chr9	GH09I034340	34340235	34340832	0.2	[{'connected_gene': 'NUDT2', 'score': 33.73}, {'connected_gene': 'MYORG', 'score': 11.71}, {'connected_gene': 'C9orf24', 'score': 11.65}, {'connected_gene': 'KIF24', 'score': 0.37}, {'connected_gene': 'GC09P034356', 'score': 0.37}]
chr9	GH09I034338	34338651	34338710	0.73	[{'connected_gene': 'NUDT2', 'score': 550.44}, {'connected_gene': 'MYORG', 'score': 11.71}, {'connected_gene': 'C9orf24', 'score': 11.65}, {'connected_gene': 'GC09P034356', 'score': 0.37}, {'connected_gene': 'KIF24', 'score': 0.34}]
chr9	GH09I034333	34333863	34335258	0.84	[{'connected_gene': 'NUDT2', 'score': 50.59}, {'connected_gene': 'MYORG', 'score': 12.15}, {'connected_gene': 'C9orf24', 'score': 12.1}, {'connected_gene': 'CNTFR', 'score': 10.44}, {'connected_gene': 'UBAP1', 'score': 5.67}, {'connected_gene': 'GC09P034356', 'score': 0.34}, {'connected_gene': 'KIF24', 'score': 0.31}]
chr9	GH09I034341	34341312	34346340	1.02	[{'connected_gene': 'NUDT2', 'score': 50.6}, {'connected_gene': 'MYORG', 'score': 11.86}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.08}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'FANCG', 'score': 7.9}, {'connected_gene': 'UBAP1', 'score': 7.81}, {'connected_gene': 'GC09P034356', 'score': 0.39}, {'connected_gene': 'KIF24', 'score': 0.37}]
chr9	GH09I034378	34378963	34381416	1.67	[{'connected_gene': 'NUDT2', 'score': 45.05}, {'connected_gene': 'KIF24', 'score': 8.62}, {'connected_gene': 'MYORG', 'score': 0.77}, {'connected_gene': 'GC09M034390', 'score': 0.44}, {'connected_gene': 'ENSG00000207032', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.37}]
chr9	GH09I034446	34446723	34446872	0.2	[{'connected_gene': 'DNAI1', 'score': 0.39}, {'connected_gene': 'FAM219A', 'score': 0.39}, {'connected_gene': 'C9orf24', 'score': 0.25}]
chr9	GH09I034455	34454600	34454801	0.64	[{'connected_gene': 'DNAI1', 'score': 0.77}, {'connected_gene': 'FAM219A', 'score': 0.77}, {'connected_gene': 'C9orf24', 'score': 0.22}]
chr9	GH09I034430	34430863	34431012	0.52	[{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9	GH09I034431	34431083	34431232	0.59	[{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9	GH09I034437	34437463	34437632	0.62	[{'connected_gene': 'FAM219A', 'score': 12.3}, {'connected_gene': 'NUDT2', 'score': 11.53}, {'connected_gene': 'ENSG00000230729', 'score': 11.31}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.62}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.28}]
chr9	GH09I034454	34454843	34455072	0.69	[{'connected_gene': 'FAM219A', 'score': 6.45}, {'connected_gene': 'DNAI1', 'score': 0.77}, {'connected_gene': 'C9orf24', 'score': 0.22}]
chr9	GH09I034450	34450956	34451821	0.72	[{'connected_gene': 'RPP25L', 'score': 11.0}, {'connected_gene': 'ENHO', 'score': 10.97}, {'connected_gene': 'ENSG00000230729', 'score': 10.72}, {'connected_gene': 'CNTFR', 'score': 10.31}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'FAM219A', 'score': 6.12}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9	GH09I033835	33835165	33837399	1.07	[{'connected_gene': 'SNORD121B', 'score': 10.91}, {'connected_gene': 'UBAP2', 'score': 10.84}, {'connected_gene': 'SNORD121A', 'score': 10.09}, {'connected_gene': 'UBE2R2', 'score': 7.48}, {'connected_gene': 'NUDT2', 'score': 6.88}, {'connected_gene': 'KIF24', 'score': 6.08}, {'connected_gene': 'C9orf24', 'score': 4.27}, {'connected_gene': 'ENSG00000200834', 'score': 0.44}, {'connected_gene': 'GC09P034128', 'score': 0.29}]
chr9	GH09I033941	33941979	33943984	0.63	[{'connected_gene': 'ENSG00000228352', 'score': 10.13}, {'connected_gene': 'UBE2R2', 'score': 7.72}, {'connected_gene': 'KIF24', 'score': 6.13}, {'connected_gene': 'C9orf24', 'score': 4.48}, {'connected_gene': 'SNORD121B', 'score': 0.44}, {'connected_gene': 'SNORD121A', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.44}, {'connected_gene': 'GC09M033952', 'score': 0.44}, {'connected_gene': 'UBAP2', 'score': 0.14}]
chr9	GH09I034441	34441001	34441200	0.2	[{'connected_gene': 'ENSG00000232983', 'score': 11.27}, {'connected_gene': 'CNTFR-AS1', 'score': 11.26}, {'connected_gene': 'RPP25L', 'score': 10.76}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.26}, {'connected_gene': 'DCTN3', 'score': 10.21}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'FAM219A', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.26}]
chr9	GH09I034257	34257323	34257472	0.2	[{'connected_gene': 'PIR42088', 'score': 550.77}, {'connected_gene': 'RNU2-50P', 'score': 11.39}, {'connected_gene': 'ENSG00000228352', 'score': 11.08}, {'connected_gene': 'DCAF12', 'score': 10.9}, {'connected_gene': 'IMPDH1P1', 'score': 10.9}, {'connected_gene': 'MYORG', 'score': 10.58}, {'connected_gene': 'C9orf24', 'score': 10.57}, {'connected_gene': 'KIF24', 'score': 0.15}]