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
ENST00000298854	[[47459307, 47459598], [47460282, 47460482], [47462709, 47462763], [47463162, 47463285], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470730]]	[[47459525, 47459598], [47460282, 47460482], [47462709, 47462763], [47463162, 47463285], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470516]]
ENST00000528356	[[47459314, 47459598], [47463162, 47463283]]	None
ENST00000352508	[[47459314, 47459598], [47460282, 47460482], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470695]]	[[47459525, 47459598], [47460282, 47460482], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470516]]
ENST00000524487	[[47459315, 47459598], [47460282, 47460473], [47463092, 47463285], [47463374, 47463473], [47469363, 47469702], [47470324, 47470605]]	[[47459337, 47459598], [47460282, 47460473], [47463092, 47463285], [47463374, 47463473], [47469363, 47469702], [47470324, 47470516]]
ENST00000529341	[[47460035, 47460482], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470688]]	[[47460209, 47460482], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470516]]
NM_005055	[[47459307, 47459598], [47460282, 47460482], [47462709, 47462763], [47463162, 47463285], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470730]]	[[47459525, 47459598], [47460282, 47460482], [47462709, 47462763], [47463162, 47463285], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470516]]
NM_032645	[[47459307, 47459598], [47460282, 47460482], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470730]]	[[47459525, 47459598], [47460282, 47460482], [47463374, 47463473], [47464207, 47464366], [47469363, 47469702], [47470324, 47470516]]

Promoter

Chrom	Start	End	Description
chr11	47470591	47470604	CAGE_peak_4_at_RAPSN_5end
chr11	47470650	47470653	CAGE_peak_5_at_RAPSN_5end
chr11	47470657	47470674	CAGE_peak_2_at_RAPSN_5end
chr11	47470682	47470693	CAGE_peak_1_at_RAPSN_5end
chr11	47470703	47470715	CAGE_peak_3_at_RAPSN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I047441	47441509	47441658	0.31	[{'connected_gene': 'SLC39A13', 'score': 12.04}, {'connected_gene': 'ENSG00000255197', 'score': 12.04}, {'connected_gene': 'LOC101928943', 'score': 10.62}, {'connected_gene': 'MADD', 'score': 10.61}, {'connected_gene': 'NR1H3', 'score': 10.6}, {'connected_gene': 'MTCH2', 'score': 9.64}, {'connected_gene': 'RAPSN', 'score': 0.44}, {'connected_gene': 'PSMC3', 'score': 0.37}]
chr11	GH11I047175	47175380	47180099	2.26	[{'connected_gene': 'ARFGAP2', 'score': 561.07}, {'connected_gene': 'MIR6745', 'score': 550.77}, {'connected_gene': 'NUP160', 'score': 61.6}, {'connected_gene': 'FNBP4', 'score': 56.48}, {'connected_gene': 'ENSG00000270060', 'score': 41.51}, {'connected_gene': 'ENSG00000200090', 'score': 40.64}, {'connected_gene': 'DDB2', 'score': 32.79}, {'connected_gene': 'RPS10P19', 'score': 22.49}, {'connected_gene': 'ZNF408', 'score': 20.26}, {'connected_gene': 'LRP4', 'score': 15.41}, {'connected_gene': 'PACSIN3', 'score': 14.37}, {'connected_gene': 'CELF1', 'score': 11.9}, {'connected_gene': 'AMBRA1', 'score': 10.51}, {'connected_gene': 'KBTBD4', 'score': 10.05}, {'connected_gene': 'C11orf49', 'score': 4.43}, {'connected_gene': 'RAPSN', 'score': 4.12}]
chr11	GH11I047434	47434590	47434679	0.62	[{'connected_gene': 'RAPSN', 'score': 8.13}, {'connected_gene': 'PSMC3', 'score': 0.44}]
chr11	GH11I047495	47495389	47495558	0.87	[{'connected_gene': 'RAPSN', 'score': 11.38}, {'connected_gene': 'NDUFS3', 'score': 11.23}, {'connected_gene': 'ENSG00000231880', 'score': 10.42}, {'connected_gene': 'RNU5E-10P', 'score': 10.42}, {'connected_gene': 'MTCH2', 'score': 10.14}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'GC11P047482', 'score': 0.39}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'CELF1', 'score': 0.19}]
chr11	GH11I047447	47447801	47449770	1.16	[{'connected_gene': 'RAPSN', 'score': 558.5}, {'connected_gene': 'FNBP4', 'score': 8.18}, {'connected_gene': 'PSMC3', 'score': 6.29}]
chr11	GH11I047476	47476984	47478463	0.66	[{'connected_gene': 'RAPSN', 'score': 12.13}, {'connected_gene': 'CELF1', 'score': 11.69}, {'connected_gene': 'PTPMT1', 'score': 11.69}, {'connected_gene': 'NDUFS3', 'score': 11.69}, {'connected_gene': 'C1QTNF4', 'score': 11.04}, {'connected_gene': 'RNU5E-10P', 'score': 10.34}, {'connected_gene': 'ENSG00000231880', 'score': 10.34}, {'connected_gene': 'MTCH2', 'score': 9.88}, {'connected_gene': 'GC11P047482', 'score': 0.77}, {'connected_gene': 'GC11M055362', 'score': 0.44}]
chr11	GH11I047454	47454289	47454478	0.85	[{'connected_gene': 'NDUFS3', 'score': 11.25}, {'connected_gene': 'MTCH2', 'score': 9.84}, {'connected_gene': 'RAPSN', 'score': 0.44}, {'connected_gene': 'GC11M055362', 'score': 0.37}]
chr11	GH11I047465	47465397	47465751	0.4	[{'connected_gene': 'MYBPC3', 'score': 11.59}, {'connected_gene': 'SLC39A13', 'score': 11.34}, {'connected_gene': 'NDUFS3', 'score': 11.15}, {'connected_gene': 'C1QTNF4', 'score': 10.81}, {'connected_gene': 'ENSG00000231880', 'score': 10.44}, {'connected_gene': 'RNU5E-10P', 'score': 10.44}, {'connected_gene': 'MTCH2', 'score': 10.26}, {'connected_gene': 'AGBL2', 'score': 9.39}, {'connected_gene': 'GC11M055362', 'score': 0.77}, {'connected_gene': 'RAPSN', 'score': 0.37}]
chr11	GH11I047486	47486539	47488481	0.59	[{'connected_gene': 'MYBPC3', 'score': 11.55}, {'connected_gene': 'RAPSN', 'score': 11.41}, {'connected_gene': 'NDUFS3', 'score': 11.21}, {'connected_gene': 'RNU5E-10P', 'score': 10.41}, {'connected_gene': 'ENSG00000231880', 'score': 10.4}, {'connected_gene': 'MTCH2', 'score': 10.13}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'C1QTNF4', 'score': 7.56}, {'connected_gene': 'GC11P047482', 'score': 0.44}, {'connected_gene': 'ENSG00000270072', 'score': 0.31}, {'connected_gene': 'CELF1', 'score': 0.18}]
chr11	GH11I047305	47305810	47305959	0.2	[{'connected_gene': 'MYBPC3', 'score': 11.97}, {'connected_gene': 'NR1H3', 'score': 11.34}, {'connected_gene': 'ACP2', 'score': 11.34}, {'connected_gene': 'SLC39A13', 'score': 11.12}, {'connected_gene': 'LOC101928943', 'score': 11.04}, {'connected_gene': 'MADD', 'score': 11.03}, {'connected_gene': 'ARFGAP2', 'score': 10.89}, {'connected_gene': 'PACSIN3', 'score': 10.89}, {'connected_gene': 'RAPSN', 'score': 10.51}, {'connected_gene': 'MTCH2', 'score': 10.09}, {'connected_gene': 'ENSG00000283338', 'score': 0.37}]
chr11	GH11I047611	47611649	47611798	0.49	[{'connected_gene': 'FAM180B', 'score': 12.23}, {'connected_gene': 'PTPMT1', 'score': 11.77}, {'connected_gene': 'CELF1', 'score': 11.77}, {'connected_gene': 'NDUFS3', 'score': 11.77}, {'connected_gene': 'KBTBD4', 'score': 11.54}, {'connected_gene': 'MTCH2', 'score': 11.27}, {'connected_gene': 'ENSG00000231880', 'score': 11.22}, {'connected_gene': 'RNU5E-10P', 'score': 11.2}, {'connected_gene': 'RAPSN', 'score': 10.55}, {'connected_gene': 'AGBL2', 'score': 10.33}, {'connected_gene': 'NUP160', 'score': 9.53}, {'connected_gene': 'GC11M055369', 'score': 0.77}, {'connected_gene': 'PIR60352', 'score': 0.39}]
chr11	GH11I047606	47606722	47608641	0.72	[{'connected_gene': 'FNBP4', 'score': 19.62}, {'connected_gene': 'FAM180B', 'score': 12.28}, {'connected_gene': 'KBTBD4', 'score': 12.13}, {'connected_gene': 'NDUFS3', 'score': 12.08}, {'connected_gene': 'PTPMT1', 'score': 11.73}, {'connected_gene': 'CELF1', 'score': 11.73}, {'connected_gene': 'ENSG00000231880', 'score': 11.32}, {'connected_gene': 'RNU5E-10P', 'score': 11.3}, {'connected_gene': 'MTCH2', 'score': 11.2}, {'connected_gene': 'AGBL2', 'score': 10.41}, {'connected_gene': 'RAPSN', 'score': 10.38}, {'connected_gene': 'PIR60352', 'score': 0.44}, {'connected_gene': 'GC11M055369', 'score': 0.44}]
chr11	GH11I047498	47498770	47500200	1.1	[{'connected_gene': 'PTPMT1', 'score': 11.9}, {'connected_gene': 'CELF1', 'score': 11.9}, {'connected_gene': 'NDUFS3', 'score': 11.9}, {'connected_gene': 'RAPSN', 'score': 11.31}, {'connected_gene': 'ENSG00000231880', 'score': 11.22}, {'connected_gene': 'KBTBD4', 'score': 11.22}, {'connected_gene': 'RNU5E-10P', 'score': 11.22}, {'connected_gene': 'FAM180B', 'score': 10.77}, {'connected_gene': 'C1QTNF4', 'score': 10.76}, {'connected_gene': 'MTCH2', 'score': 10.31}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'GC11P047482', 'score': 0.37}]
chr11	GH11I047466	47465774	47467825	1.04	[{'connected_gene': 'C1QTNF4', 'score': 18.4}, {'connected_gene': 'SLC39A13', 'score': 10.82}, {'connected_gene': 'GC11M055362', 'score': 0.77}, {'connected_gene': 'RAPSN', 'score': 0.37}, {'connected_gene': 'CELF1', 'score': 0.15}]
chr11	GH11I047437	47437403	47438530	0.74	[{'connected_gene': 'C1QTNF4', 'score': 26.11}, {'connected_gene': 'RAPSN', 'score': 8.56}, {'connected_gene': 'PSMC3', 'score': 6.84}]
chr11	GH11I047432	47432710	47433697	0.43	[{'connected_gene': 'C1QTNF4', 'score': 26.15}, {'connected_gene': 'RAPSN', 'score': 8.1}, {'connected_gene': 'ACP2', 'score': 7.75}, {'connected_gene': 'ENSG00000255197', 'score': 6.74}, {'connected_gene': 'PTPRJ', 'score': 4.1}, {'connected_gene': 'PSMC3', 'score': 0.44}]
chr11	GH11I047474	47474056	47475810	0.2	[{'connected_gene': 'C1QTNF4', 'score': 42.44}, {'connected_gene': 'RAPSN', 'score': 12.13}, {'connected_gene': 'PTPMT1', 'score': 11.68}, {'connected_gene': 'CELF1', 'score': 11.68}, {'connected_gene': 'NDUFS3', 'score': 11.68}, {'connected_gene': 'SLC39A13', 'score': 10.81}, {'connected_gene': 'ENSG00000231880', 'score': 10.45}, {'connected_gene': 'RNU5E-10P', 'score': 10.45}, {'connected_gene': 'MTCH2', 'score': 9.99}, {'connected_gene': 'PSMC3', 'score': 6.3}, {'connected_gene': 'GC11M055362', 'score': 0.44}, {'connected_gene': 'GC11P047482', 'score': 0.44}]
chr11	GH11I047430	47430688	47431927	0.73	[{'connected_gene': 'C1QTNF4', 'score': 7.85}, {'connected_gene': 'PSMC3', 'score': 0.77}, {'connected_gene': 'RAPSN', 'score': 0.37}]
chr11	GH11I047617	47617109	47618331	0.66	[{'connected_gene': 'C1QTNF4', 'score': 12.47}, {'connected_gene': 'FAM180B', 'score': 12.21}, {'connected_gene': 'PTPMT1', 'score': 11.76}, {'connected_gene': 'CELF1', 'score': 11.76}, {'connected_gene': 'NDUFS3', 'score': 11.76}, {'connected_gene': 'MTCH2', 'score': 11.64}, {'connected_gene': 'KBTBD4', 'score': 11.59}, {'connected_gene': 'ENSG00000231880', 'score': 11.2}, {'connected_gene': 'RNU5E-10P', 'score': 11.18}, {'connected_gene': 'RAPSN', 'score': 10.55}, {'connected_gene': 'AGBL2', 'score': 10.33}, {'connected_gene': 'NUP160', 'score': 9.85}, {'connected_gene': 'PTPRJ', 'score': 4.12}, {'connected_gene': 'GC11M055369', 'score': 0.77}]
chr11	GH11I047488	47488943	47489002	0.81	[{'connected_gene': 'CELF1', 'score': 550.18}, {'connected_gene': 'RAPSN', 'score': 11.41}, {'connected_gene': 'NDUFS3', 'score': 11.21}, {'connected_gene': 'ENSG00000231880', 'score': 10.41}, {'connected_gene': 'RNU5E-10P', 'score': 10.41}, {'connected_gene': 'MTCH2', 'score': 10.13}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'GC11P047482', 'score': 0.44}, {'connected_gene': 'ENSG00000270072', 'score': 0.31}]
chr11	GH11I047494	47494581	47494640	0.7	[{'connected_gene': 'CELF1', 'score': 550.19}, {'connected_gene': 'RAPSN', 'score': 11.38}, {'connected_gene': 'NDUFS3', 'score': 11.22}, {'connected_gene': 'ENSG00000231880', 'score': 10.42}, {'connected_gene': 'RNU5E-10P', 'score': 10.42}, {'connected_gene': 'MTCH2', 'score': 10.14}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'GC11P047482', 'score': 0.39}, {'connected_gene': 'ENSG00000270072', 'score': 0.34}]
chr11	GH11I047468	47468740	47468976	0.99	[{'connected_gene': 'GC11M055362', 'score': 550.77}, {'connected_gene': 'SLC39A13', 'score': 10.81}, {'connected_gene': 'C1QTNF4', 'score': 10.81}, {'connected_gene': 'RAPSN', 'score': 0.37}, {'connected_gene': 'CELF1', 'score': 0.15}]