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
ENST00000351266	[[34551429, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979], [34589552, 34589704]]	[[34552068, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979]]
ENST00000378980	[[34551429, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979], [34581092, 34581203], [34589552, 34589735]]	[[34552068, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979]]
ENST00000417345	[[34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979], [34581092, 34581203], [34590079, 34590121]]	[[34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979]]
NM_147164	[[34551429, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979], [34581092, 34581203], [34589552, 34589735]]	[[34552068, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979]]
NM_001842	[[34551429, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979], [34589552, 34589735]]	[[34552068, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979]]
NM_001207011	[[34551429, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979], [34581092, 34581203], [34590079, 34590138]]	[[34552068, 34552069], [34552158, 34552327], [34552671, 34552852], [34556252, 34556416], [34557523, 34557690], [34557864, 34557982], [34564596, 34564830], [34568894, 34568979]]

Promoter

Chrom	Start	End	Description
chr9	34589700	34589709	CAGE_peak_5_at_CNTFR_5end
chr9	34589714	34589729	CAGE_peak_1_at_CNTFR_5end
chr9	34589734	34589748	CAGE_peak_3_at_CNTFR_5end
chr9	34590138	34590168	CAGE_peak_2_at_CNTFR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH09I034565	34565761	34566868	0.38	[{'connected_gene': 'CNTFR-AS1', 'score': 550.77}, {'connected_gene': 'RPP25L', 'score': 9.39}, {'connected_gene': 'PIGO', 'score': 5.29}, {'connected_gene': 'GC09M034561', 'score': 0.77}, {'connected_gene': 'CNTFR', 'score': 0.34}]
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	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	GH09I034573	34573699	34575506	0.2	[{'connected_gene': 'GALT', 'score': 23.49}, {'connected_gene': 'ENSG00000232983', 'score': 13.56}, {'connected_gene': 'RPP25L', 'score': 11.62}, {'connected_gene': 'ENHO', 'score': 11.17}, {'connected_gene': 'ENSG00000230729', 'score': 11.0}, {'connected_gene': 'DCTN3', 'score': 10.42}, {'connected_gene': 'ARID3C', 'score': 10.4}, {'connected_gene': 'SIGMAR1', 'score': 10.37}, {'connected_gene': 'NUDT2', 'score': 4.49}, {'connected_gene': 'GC09P034579', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9	GH09I034606	34606698	34607725	0.57	[{'connected_gene': 'GALT', 'score': 16.04}, {'connected_gene': 'RPP25L', 'score': 13.58}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9	GH09I034571	34571523	34571672	0.2	[{'connected_gene': 'GALT', 'score': 9.66}, {'connected_gene': 'LOC105376023', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.77}, {'connected_gene': 'GC09P034579', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
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	GH09I034558	34558214	34561309	0.77	[{'connected_gene': 'RPP25L', 'score': 9.49}, {'connected_gene': 'GALT', 'score': 7.74}, {'connected_gene': 'UBAP2', 'score': 4.94}, {'connected_gene': 'DNAJB5', 'score': 4.91}, {'connected_gene': 'GC09M034561', 'score': 0.77}, {'connected_gene': 'ENSG00000232983', 'score': 0.39}, {'connected_gene': 'CNTFR', 'score': 0.29}]
chr9	GH09I034610	34610877	34613339	1.96	[{'connected_gene': 'RPP25L', 'score': 560.55}, {'connected_gene': 'GALT', 'score': 15.13}, {'connected_gene': 'SIGMAR1', 'score': 7.14}, {'connected_gene': 'CNTFR', 'score': 0.34}]
chr9	GH09I034603	34603744	34603913	0.67	[{'connected_gene': 'RPP25L', 'score': 11.54}, {'connected_gene': 'CNTFR', 'score': 0.39}]
chr9	GH09I034593	34592823	34594019	0.56	[{'connected_gene': 'RPP25L', 'score': 13.13}, {'connected_gene': 'CNTFR', 'score': 0.77}]
chr9	GH09I034630	34630841	34631034	0.56	[{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'DNAJB5', 'score': 5.29}, {'connected_gene': 'CNTFR', 'score': 3.43}, {'connected_gene': 'ENHO', 'score': 1.76}, {'connected_gene': 'PHF24', 'score': 1.62}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9	GH09I034513	34513530	34514025	0.49	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'FAM219A', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'FANCG', 'score': 5.0}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.28}]
chr9	GH09I034511	34511223	34511372	0.2	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.2}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'RPP25L', 'score': 10.84}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9	GH09I034591	34590140	34590312	1.17	[{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 4.73}, {'connected_gene': 'RPP25L', 'score': 0.34}]
chr9	GH09I034512	34512701	34513518	0.73	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9	GH09I034514	34512543	34512692	0.67	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'NUDT2', 'score': 5.81}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9	GH09I034594	34590483	34591972	0.8	[{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 14.03}, {'connected_gene': 'RPP25L', 'score': 11.73}]
chr9	GH09I034592	34592023	34592159	0.7	[{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 14.81}, {'connected_gene': 'RPP25L', 'score': 0.34}]
chr9	GH09I034554	34554798	34555754	0.65	[{'connected_gene': 'CNTFR', 'score': 5.03}, {'connected_gene': 'ENSG00000232983', 'score': 0.44}, {'connected_gene': 'GC09M034561', 'score': 0.44}]
chr9	GH09I034590	34589147	34589212	0.49	[{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 0.44}]
chr9	GH09I034585	34585823	34585843	0.31	[{'connected_gene': 'CNTFR', 'score': 0.77}, {'connected_gene': 'GC09P034580', 'score': 0.44}]
chr9	GH09I034589	34589600	34589912	1.64	[{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 0.44}]
chr9	GH09I034570	34570023	34571409	0.43	[{'connected_gene': 'LOC105376023', 'score': 550.77}, {'connected_gene': 'CNTFR-AS1', 'score': 9.26}, {'connected_gene': 'GC09P034579', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9	GH09I034572	34572223	34572234	0.49	[{'connected_gene': 'LOC105376023', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.77}, {'connected_gene': 'GC09P034579', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9	GH09I034575	34575665	34580790	0.77	[{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]