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
ENST00000313655	[[120846215, 120847241], [120850498, 120850647], [120854033, 120854188], [120855015, 120855068], [120855848, 120855987], [120859229, 120859320], [120862621, 120862756], [120865286, 120865455], [120867853, 120868250]]	[[120847132, 120847241], [120850498, 120850647], [120854033, 120854188], [120855015, 120855068], [120855848, 120855987], [120859229, 120859320], [120862621, 120862756], [120865286, 120865455], [120867853, 120868035]]
ENST00000521795	[[120864997, 120865455], [120867853, 120868098]]	None
NM_024094	[[120846180, 120847241], [120850498, 120850647], [120854033, 120854188], [120855015, 120855068], [120855848, 120855987], [120859229, 120859320], [120862621, 120862756], [120865286, 120865455], [120867853, 120868170]]	[[120847132, 120847241], [120850498, 120850647], [120854033, 120854188], [120855015, 120855068], [120855848, 120855987], [120859229, 120859320], [120862621, 120862756], [120865286, 120865455], [120867853, 120868035]]

Promoter

Chrom	Start	End	Description
chr8	120868078	120868182	CAGE_peak_1_at_DSCC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I119866	119866699	119867890	0.98	[{'connected_gene': 'DSCC1', 'score': 38.26}, {'connected_gene': 'COL14A1', 'score': 10.93}, {'connected_gene': 'TAF2', 'score': 10.64}, {'connected_gene': 'RN7SL396P', 'score': 0.77}, {'connected_gene': 'DEPTOR', 'score': 0.44}, {'connected_gene': 'ENSG00000245330', 'score': 0.44}]
chr8	GH08I119902	119902691	119904516	0.43	[{'connected_gene': 'DSCC1', 'score': 23.67}, {'connected_gene': 'ENSG00000245330', 'score': 11.45}, {'connected_gene': 'TAF2', 'score': 7.56}, {'connected_gene': 'PIR41964', 'score': 0.77}, {'connected_gene': 'DEPTOR', 'score': 0.31}, {'connected_gene': 'GC08M119936', 'score': 0.21}]
chr8	GH08I119854	119854859	119857339	2.02	[{'connected_gene': 'DSCC1', 'score': 616.28}, {'connected_gene': 'TAF2', 'score': 24.34}, {'connected_gene': 'RN7SL396P', 'score': 0.44}, {'connected_gene': 'LOC105375728', 'score': 0.34}]
chr8	GH08I119907	119907524	119909818	0.58	[{'connected_gene': 'DSCC1', 'score': 22.94}, {'connected_gene': 'DEPTOR', 'score': 14.5}, {'connected_gene': 'ENSG00000245330', 'score': 11.07}, {'connected_gene': 'TAF2', 'score': 7.55}, {'connected_gene': 'PIR41964', 'score': 0.44}, {'connected_gene': 'GC08M119936', 'score': 0.22}]
chr8	GH08I119923	119923525	119924740	0.31	[{'connected_gene': 'DSCC1', 'score': 22.89}, {'connected_gene': 'DEPTOR', 'score': 18.04}, {'connected_gene': 'ENSG00000245330', 'score': 10.61}, {'connected_gene': 'TAF2', 'score': 6.18}, {'connected_gene': 'PIR41964', 'score': 0.34}, {'connected_gene': 'GC08M119936', 'score': 0.26}]
chr8	GH08I119914	119914741	119918477	1.28	[{'connected_gene': 'DSCC1', 'score': 22.76}, {'connected_gene': 'DEPTOR', 'score': 18.66}, {'connected_gene': 'ENSG00000245330', 'score': 11.27}, {'connected_gene': 'MTBP', 'score': 10.85}, {'connected_gene': 'TAF2', 'score': 7.33}, {'connected_gene': 'PIR41964', 'score': 0.37}, {'connected_gene': 'GC08M119936', 'score': 0.23}]
chr8	GH08I119875	119875797	119878166	0.38	[{'connected_gene': 'DSCC1', 'score': 28.48}, {'connected_gene': 'ENSG00000245330', 'score': 10.55}, {'connected_gene': 'DEPTOR', 'score': 0.77}, {'connected_gene': 'GC08M119893', 'score': 0.39}, {'connected_gene': 'RNA5SP277', 'score': 0.39}]
chr8	GH08I119961	119961914	119965284	0.46	[{'connected_gene': 'DSCC1', 'score': 9.19}, {'connected_gene': 'DEPTOR', 'score': 4.75}, {'connected_gene': 'GC08M119936', 'score': 0.77}, {'connected_gene': 'PIR41964', 'score': 0.21}]
chr8	GH08I119918	119918678	119921361	1.27	[{'connected_gene': 'DSCC1', 'score': 22.62}, {'connected_gene': 'DEPTOR', 'score': 17.9}, {'connected_gene': 'ENSG00000245330', 'score': 8.67}, {'connected_gene': 'PIR41964', 'score': 0.37}, {'connected_gene': 'GC08M119936', 'score': 0.25}]
chr8	GH08I119921	119921555	119921914	0.2	[{'connected_gene': 'DSCC1', 'score': 22.55}, {'connected_gene': 'DEPTOR', 'score': 17.91}, {'connected_gene': 'ENSG00000245330', 'score': 11.07}, {'connected_gene': 'PIR41964', 'score': 0.34}, {'connected_gene': 'GC08M119936', 'score': 0.25}]
chr8	GH08I119946	119946773	119947458	0.2	[{'connected_gene': 'DSCC1', 'score': 5.93}, {'connected_gene': 'DEPTOR', 'score': 5.34}, {'connected_gene': 'GC08M119936', 'score': 0.34}, {'connected_gene': 'PIR41964', 'score': 0.25}]
chr8	GH08I119927	119927751	119928727	0.31	[{'connected_gene': 'DSCC1', 'score': 22.31}, {'connected_gene': 'DEPTOR', 'score': 18.8}, {'connected_gene': 'ENSG00000245330', 'score': 10.59}, {'connected_gene': 'PIR41964', 'score': 0.31}, {'connected_gene': 'GC08M119936', 'score': 0.28}]
chr8	GH08I119955	119955872	119957229	0.71	[{'connected_gene': 'DSCC1', 'score': 5.52}, {'connected_gene': 'GC08M119936', 'score': 0.39}, {'connected_gene': 'PIR41964', 'score': 0.22}, {'connected_gene': 'DEPTOR', 'score': 0.18}]
chr8	GH08I119910	119910499	119912051	0.49	[{'connected_gene': 'DSCC1', 'score': 23.19}, {'connected_gene': 'ENSG00000245330', 'score': 11.05}, {'connected_gene': 'PIR41964', 'score': 0.44}, {'connected_gene': 'DEPTOR', 'score': 0.28}, {'connected_gene': 'GC08M119936', 'score': 0.22}]
chr8	GH08I119922	119922219	119923224	0.2	[{'connected_gene': 'DSCC1', 'score': 22.33}, {'connected_gene': 'ENSG00000245330', 'score': 10.69}, {'connected_gene': 'PIR41964', 'score': 0.34}, {'connected_gene': 'GC08M119936', 'score': 0.25}, {'connected_gene': 'DEPTOR', 'score': 0.25}]
chr8	GH08I119912	119912358	119913378	0.86	[{'connected_gene': 'DSCC1', 'score': 19.82}, {'connected_gene': 'ENSG00000245330', 'score': 11.06}, {'connected_gene': 'PIR41964', 'score': 0.39}, {'connected_gene': 'DEPTOR', 'score': 0.28}, {'connected_gene': 'GC08M119936', 'score': 0.22}]
chr8	GH08I119906	119906961	119907110	0.69	[{'connected_gene': 'DSCC1', 'score': 22.94}, {'connected_gene': 'PIR41964', 'score': 0.44}, {'connected_gene': 'DEPTOR', 'score': 0.29}, {'connected_gene': 'GC08M119936', 'score': 0.21}]
chr8	GH08I119644	119644651	119645886	0.6	[{'connected_gene': 'DSCC1', 'score': 5.42}, {'connected_gene': 'ENPP2', 'score': 5.25}, {'connected_gene': 'CYCSP23', 'score': 0.31}, {'connected_gene': 'LOC105375727', 'score': 0.31}]
chr8	GH08I119678	119678141	119678301	0.51	[{'connected_gene': 'DSCC1', 'score': 4.08}, {'connected_gene': 'ENPP2', 'score': 0.77}, {'connected_gene': 'RN7SKP153', 'score': 0.29}]
chr8	GH08I119666	119666453	119668460	0.2	[{'connected_gene': 'DSCC1', 'score': 4.94}, {'connected_gene': 'ENPP2', 'score': 4.55}, {'connected_gene': 'LOC105375727', 'score': 0.77}, {'connected_gene': 'CYCSP23', 'score': 0.25}]
chr8	GH08I119625	119625984	119627139	0.38	[{'connected_gene': 'DSCC1', 'score': 4.94}, {'connected_gene': 'CYCSP23', 'score': 0.44}, {'connected_gene': 'LOC105375727', 'score': 0.25}, {'connected_gene': 'ENPP2', 'score': 0.25}]
chr8	GH08I119641	119641801	119642000	0.96	[{'connected_gene': 'DSCC1', 'score': 3.98}, {'connected_gene': 'CYCSP23', 'score': 0.34}, {'connected_gene': 'LOC105375727', 'score': 0.29}, {'connected_gene': 'ENPP2', 'score': 0.29}]
chr8	GH08I119855	119854001	119854200	0.2	[{'connected_gene': 'DSCC1', 'score': 557.49}, {'connected_gene': 'ENSG00000279347', 'score': 0.39}, {'connected_gene': 'LOC105375728', 'score': 0.34}]
chr8	GH08I119884	119884710	119890055	0.2	[{'connected_gene': 'DSCC1', 'score': 33.41}, {'connected_gene': 'ENSG00000245330', 'score': 12.03}, {'connected_gene': 'GC08M119893', 'score': 0.77}, {'connected_gene': 'RNA5SP277', 'score': 0.77}, {'connected_gene': 'DEPTOR', 'score': 0.39}]
chr8	GH08I119738	119738610	119740193	0.38	[{'connected_gene': 'TAF2', 'score': 7.49}, {'connected_gene': 'DSCC1', 'score': 5.17}, {'connected_gene': 'DEPTOR', 'score': 4.39}, {'connected_gene': 'RN7SKP153', 'score': 0.31}]
chr8	GH08I119980	119980301	119980450	0.94	[{'connected_gene': 'TAF2', 'score': 17.93}, {'connected_gene': 'COL14A1', 'score': 11.43}, {'connected_gene': 'DSCC1', 'score': 4.25}, {'connected_gene': 'GC08M119936', 'score': 0.39}, {'connected_gene': 'GC08P120015', 'score': 0.28}, {'connected_gene': 'DEPTOR', 'score': 0.14}]
chr8	GH08I119831	119831755	119833971	2.05	[{'connected_gene': 'TAF2', 'score': 579.34}, {'connected_gene': 'LOC105375728', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 29.41}, {'connected_gene': 'RN7SKP153', 'score': 0.13}]
chr8	GH08I120756	120756002	120758573	0.84	[{'connected_gene': 'SNTB1', 'score': 10.22}, {'connected_gene': 'DSCC1', 'score': 5.7}, {'connected_gene': 'LOC101927543', 'score': 0.77}, {'connected_gene': 'NCAPGP1', 'score': 0.13}]
chr8	GH08I120082	120082054	120085291	1.27	[{'connected_gene': 'DEPTOR', 'score': 18.54}, {'connected_gene': 'ENSG00000254343', 'score': 15.48}, {'connected_gene': 'DSCC1', 'score': 15.04}, {'connected_gene': 'TAF2', 'score': 9.36}, {'connected_gene': 'COL14A1', 'score': 0.34}, {'connected_gene': 'LOC105375730', 'score': 0.34}, {'connected_gene': 'PIR54850', 'score': 0.28}]
chr8	GH08I119930	119930416	119931891	0.2	[{'connected_gene': 'DEPTOR', 'score': 10.67}, {'connected_gene': 'ENSG00000245330', 'score': 10.58}, {'connected_gene': 'DSCC1', 'score': 6.92}, {'connected_gene': 'TAF2', 'score': 5.45}, {'connected_gene': 'PIR41964', 'score': 0.31}, {'connected_gene': 'GC08M119936', 'score': 0.28}]
chr8	GH08I119904	119904783	119905870	0.2	[{'connected_gene': 'DEPTOR', 'score': 18.46}, {'connected_gene': 'ENSG00000245330', 'score': 11.07}, {'connected_gene': 'DSCC1', 'score': 7.75}, {'connected_gene': 'PIR41964', 'score': 0.77}, {'connected_gene': 'GC08M119936', 'score': 0.21}]
chr8	GH08I120080	120080649	120080852	0.26	[{'connected_gene': 'DEPTOR', 'score': 18.02}, {'connected_gene': 'COL14A1', 'score': 11.73}, {'connected_gene': 'DSCC1', 'score': 11.22}, {'connected_gene': 'LOC105375730', 'score': 0.34}, {'connected_gene': 'PIR54850', 'score': 0.28}]
chr8	GH08I119968	119968712	119979824	1.12	[{'connected_gene': 'DEPTOR', 'score': 25.27}, {'connected_gene': 'COL14A1', 'score': 11.41}, {'connected_gene': 'DSCC1', 'score': 8.23}, {'connected_gene': 'ENSG00000254343', 'score': 5.48}, {'connected_gene': 'ENSG00000245330', 'score': 5.29}, {'connected_gene': 'GC08M119936', 'score': 0.44}, {'connected_gene': 'GC08P120015', 'score': 0.26}]
chr8	GH08I119990	119990327	119991633	1.1	[{'connected_gene': 'DEPTOR', 'score': 19.9}, {'connected_gene': 'COL14A1', 'score': 10.93}, {'connected_gene': 'ENSG00000245330', 'score': 5.34}, {'connected_gene': 'DSCC1', 'score': 5.3}, {'connected_gene': 'GC08M119936', 'score': 0.34}, {'connected_gene': 'GC08P120015', 'score': 0.34}]
chr8	GH08I119894	119894844	119896681	0.9	[{'connected_gene': 'DEPTOR', 'score': 27.82}, {'connected_gene': 'ENSG00000245330', 'score': 11.62}, {'connected_gene': 'TAF2', 'score': 10.01}, {'connected_gene': 'DSCC1', 'score': 7.78}, {'connected_gene': 'GC08M119893', 'score': 0.77}, {'connected_gene': 'RNA5SP277', 'score': 0.77}, {'connected_gene': 'PIR41964', 'score': 0.44}]
chr8	GH08I119981	119980739	119984555	1.42	[{'connected_gene': 'DEPTOR', 'score': 25.39}, {'connected_gene': 'MTBP', 'score': 11.55}, {'connected_gene': 'COL14A1', 'score': 11.43}, {'connected_gene': 'DSCC1', 'score': 7.36}, {'connected_gene': 'ENSG00000254343', 'score': 5.64}, {'connected_gene': 'ENSG00000245330', 'score': 4.81}, {'connected_gene': 'GC08M119936', 'score': 0.39}, {'connected_gene': 'GC08P120015', 'score': 0.29}]
chr8	GH08I119684	119684711	119687694	0.56	[{'connected_gene': 'NOV', 'score': 9.77}, {'connected_gene': 'ENPP2', 'score': 5.13}, {'connected_gene': 'DSCC1', 'score': 5.06}, {'connected_gene': 'RN7SKP153', 'score': 0.31}]
chr8	GH08I119632	119632719	119633993	0.38	[{'connected_gene': 'ENPP2', 'score': 15.6}, {'connected_gene': 'DSCC1', 'score': 5.29}, {'connected_gene': 'CYCSP23', 'score': 0.39}, {'connected_gene': 'LOC105375727', 'score': 0.28}]
chr8	GH08I119635	119635322	119636698	0.72	[{'connected_gene': 'ENPP2', 'score': 15.91}, {'connected_gene': 'DSCC1', 'score': 5.33}, {'connected_gene': 'CYCSP23', 'score': 0.37}, {'connected_gene': 'LOC105375727', 'score': 0.28}]
chr8	GH08I119697	119697236	119699538	0.38	[{'connected_gene': 'ENPP2', 'score': 15.75}, {'connected_gene': 'DSCC1', 'score': 11.22}, {'connected_gene': 'RN7SKP153', 'score': 0.39}]
chr8	GH08I119649	119649581	119653960	0.6	[{'connected_gene': 'ENPP2', 'score': 16.67}, {'connected_gene': 'DSCC1', 'score': 7.63}, {'connected_gene': 'LOC105375727', 'score': 0.34}, {'connected_gene': 'CYCSP23', 'score': 0.29}]
chr8	GH08I119706	119706641	119708887	0.56	[{'connected_gene': 'ENPP2', 'score': 12.27}, {'connected_gene': 'TAF2', 'score': 9.22}, {'connected_gene': 'DSCC1', 'score': 4.71}, {'connected_gene': 'RN7SKP153', 'score': 0.77}]
chr8	GH08I119721	119721360	119722991	1.07	[{'connected_gene': 'ENPP2', 'score': 11.58}, {'connected_gene': 'TAF2', 'score': 9.55}, {'connected_gene': 'DSCC1', 'score': 4.12}, {'connected_gene': 'RN7SKP153', 'score': 0.39}]
chr8	GH08I119203	119203199	119210156	2.39	[{'connected_gene': 'MAL2', 'score': 561.36}, {'connected_gene': 'NOV', 'score': 9.96}, {'connected_gene': 'DSCC1', 'score': 4.63}, {'connected_gene': 'MAL2-AS1', 'score': 0.26}, {'connected_gene': 'LOC105375725', 'score': 0.23}]
chr8	GH08I119862	119862601	119863401	0.59	[{'connected_gene': 'RN7SL396P', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 52.04}, {'connected_gene': 'TAF2', 'score': 11.26}, {'connected_gene': 'COL14A1', 'score': 10.93}, {'connected_gene': 'MRPL13', 'score': 10.01}, {'connected_gene': 'MTBP', 'score': 10.01}, {'connected_gene': 'DEPTOR', 'score': 8.45}]
chr8	GH08I119671	119671866	119674346	1.52	[{'connected_gene': 'LOC105375727', 'score': 550.77}, {'connected_gene': 'ENPP2', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 6.85}]
chr8	GH08I119898	119898730	119900178	0.2	[{'connected_gene': 'PIR41964', 'score': 550.77}, {'connected_gene': 'DEPTOR', 'score': 27.79}, {'connected_gene': 'DSCC1', 'score': 23.29}, {'connected_gene': 'ENSG00000245330', 'score': 11.2}, {'connected_gene': 'COL14A1', 'score': 10.92}, {'connected_gene': 'TAF2', 'score': 10.0}, {'connected_gene': 'GC08M119893', 'score': 0.44}, {'connected_gene': 'RNA5SP277', 'score': 0.44}]
chr8	GH08I120074	120074370	120075061	0.2	[{'connected_gene': 'ENSG00000254343', 'score': 15.73}, {'connected_gene': 'DEPTOR', 'score': 11.22}, {'connected_gene': 'DSCC1', 'score': 4.2}, {'connected_gene': 'COL14A1', 'score': 0.39}, {'connected_gene': 'LOC105375730', 'score': 0.37}, {'connected_gene': 'PIR54850', 'score': 0.25}]
chr8	GH08I120066	120066780	120071346	1.39	[{'connected_gene': 'ENSG00000254343', 'score': 15.75}, {'connected_gene': 'DEPTOR', 'score': 11.22}, {'connected_gene': 'DSCC1', 'score': 4.2}, {'connected_gene': 'COL14A1', 'score': 0.44}, {'connected_gene': 'LOC105375730', 'score': 0.39}, {'connected_gene': 'PIR54850', 'score': 0.23}]
chr8	GH08I119873	119873081	119875614	2.2	[{'connected_gene': 'ENSG00000245330', 'score': 565.88}, {'connected_gene': 'DEPTOR', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 34.1}]
chr8	GH08I119892	119892121	119894137	1	[{'connected_gene': 'GC08M119893', 'score': 550.77}, {'connected_gene': 'RNA5SP277', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 32.45}, {'connected_gene': 'ENSG00000245330', 'score': 11.53}, {'connected_gene': 'COL14A1', 'score': 10.95}, {'connected_gene': 'TAF2', 'score': 10.01}, {'connected_gene': 'PIR41964', 'score': 0.44}, {'connected_gene': 'DEPTOR', 'score': 0.37}]
chr8	GH08I119890	119890900	119891433	0.2	[{'connected_gene': 'GC08M119893', 'score': 550.77}, {'connected_gene': 'RNA5SP277', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 18.5}, {'connected_gene': 'ENSG00000245330', 'score': 11.54}, {'connected_gene': 'COL14A1', 'score': 10.95}, {'connected_gene': 'DEPTOR', 'score': 0.37}]