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
ENST00000394049	[[38810916, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821173, 38821408]]	[[38821174, 38821351]]
ENST00000394052	[[38812481, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821393]]	[[38812653, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821351]]
ENST00000581564	[[38813460, 38814002], [38816238, 38816459], [38818167, 38818296], [38821173, 38821397]]	[[38821174, 38821351]]
ENST00000580719	[[38816409, 38816459], [38818167, 38818347], [38821173, 38821433]]	[[38821174, 38821351]]
NM_152349	[[38811871, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821416]]	[[38812653, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821351]]

Promoter

Chrom	Start	End	Description
chr17	38821373	38821440	CAGE_peak_1_at_KRT222_5end,CAGE_peak_2_at_SMARCE1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I040478	40478436	40502480	2.24	[{'connected_gene': 'TNS4', 'score': 557.7}, {'connected_gene': 'SNORD124', 'score': 36.8}, {'connected_gene': 'SMARCE1', 'score': 21.15}, {'connected_gene': 'MED24', 'score': 20.14}, {'connected_gene': 'IGFBP4', 'score': 15.8}, {'connected_gene': 'KRT10', 'score': 12.49}, {'connected_gene': 'RPL23AP75', 'score': 11.48}, {'connected_gene': 'TOP2A', 'score': 10.93}, {'connected_gene': 'RAPGEFL1', 'score': 7.1}, {'connected_gene': 'CDC6', 'score': 4.77}, {'connected_gene': 'ORMDL3', 'score': 4.69}, {'connected_gene': 'WIPF2', 'score': 4.15}, {'connected_gene': 'THRA', 'score': 3.32}, {'connected_gene': 'KRT222', 'score': 2.7}, {'connected_gene': 'KRT24', 'score': 2.15}, {'connected_gene': 'MSL1', 'score': 1.92}, {'connected_gene': 'GJD3', 'score': 1.29}, {'connected_gene': 'GC17P040488', 'score': 0.77}]
chr17	GH17I040857	40857129	40857400	0.99	[{'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 10.63}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'KRTAP1-5', 'score': 9.82}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17	GH17I040660	40660849	40661219	0.22	[{'connected_gene': 'SMARCE1', 'score': 23.71}, {'connected_gene': 'KRT24', 'score': 22.1}, {'connected_gene': 'KRT222', 'score': 0.77}, {'connected_gene': 'ENSG00000264058', 'score': 0.77}]
chr17	GH17I040628	40628645	40630612	0.2	[{'connected_gene': 'SMARCE1', 'score': 21.64}, {'connected_gene': 'KRT222', 'score': 10.24}, {'connected_gene': 'PIR34828', 'score': 0.77}, {'connected_gene': 'GC17P040641', 'score': 0.39}, {'connected_gene': 'ENSG00000264058', 'score': 0.28}]
chr17	GH17I040601	40601570	40609705	1.55	[{'connected_gene': 'SMARCE1', 'score': 37.86}, {'connected_gene': 'CCR7', 'score': 19.79}, {'connected_gene': 'KRT222', 'score': 10.31}, {'connected_gene': 'RAPGEFL1', 'score': 6.02}, {'connected_gene': 'RARA', 'score': 1.93}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'KRTAP3-2', 'score': 1.16}, {'connected_gene': 'WIPF2', 'score': 1.14}, {'connected_gene': 'ENSG00000279775', 'score': 0.44}, {'connected_gene': 'GC17M040594', 'score': 0.39}]
chr17	GH17I039753	39753044	39760144	1.8	[{'connected_gene': 'GSDMB', 'score': 24.55}, {'connected_gene': 'ORMDL3', 'score': 20.45}, {'connected_gene': 'THRA', 'score': 15.86}, {'connected_gene': 'IKZF3', 'score': 14.78}, {'connected_gene': 'KRT222', 'score': 10.27}, {'connected_gene': 'SNORD124', 'score': 10.06}, {'connected_gene': 'MED24', 'score': 4.67}, {'connected_gene': 'STARD3', 'score': 3.92}, {'connected_gene': 'FBXL20', 'score': 3.46}, {'connected_gene': 'CDK12', 'score': 2.41}, {'connected_gene': 'WIPF2', 'score': 2.04}, {'connected_gene': 'CASC3', 'score': 1.46}, {'connected_gene': 'GC17M039760', 'score': 0.44}, {'connected_gene': 'GRB7', 'score': 0.37}]
chr17	GH17I040803	40803649	40803798	0.89	[{'connected_gene': 'KRT27', 'score': 10.83}, {'connected_gene': 'KRT26', 'score': 9.99}, {'connected_gene': 'KRT222', 'score': 9.11}, {'connected_gene': 'SMARCE1', 'score': 9.1}, {'connected_gene': 'LOC105371776', 'score': 0.77}, {'connected_gene': 'GC17M040770', 'score': 0.77}]
chr17	GH17I040138	40138723	40141954	2.13	[{'connected_gene': 'CASC3', 'score': 557.34}, {'connected_gene': 'GC17M040140', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 134.31}, {'connected_gene': 'SNORD124', 'score': 91.71}, {'connected_gene': 'SMARCE1', 'score': 89.67}, {'connected_gene': 'CDK12', 'score': 78.87}, {'connected_gene': 'MED24', 'score': 62.65}, {'connected_gene': 'MSL1', 'score': 23.36}, {'connected_gene': 'STARD3', 'score': 20.38}, {'connected_gene': 'IGFBP4', 'score': 19.14}, {'connected_gene': 'RPL19', 'score': 18.87}, {'connected_gene': 'THRA', 'score': 15.98}, {'connected_gene': 'ENSG00000264968', 'score': 10.31}, {'connected_gene': 'KRT222', 'score': 10.28}, {'connected_gene': 'RARA', 'score': 9.85}, {'connected_gene': 'FBXL20', 'score': 9.71}, {'connected_gene': 'ENSG00000266208', 'score': 7.04}, {'connected_gene': 'GC17P040124', 'score': 0.37}, {'connected_gene': 'MIR6866', 'score': 0.34}]
chr17	GH17I040707	40707518	40708949	0.67	[{'connected_gene': 'KRT24', 'score': 36.16}, {'connected_gene': 'KRT27', 'score': 10.24}, {'connected_gene': 'KRT222', 'score': 10.2}, {'connected_gene': 'SMARCE1', 'score': 10.16}, {'connected_gene': 'KRT37', 'score': 9.14}, {'connected_gene': 'KRT223P', 'score': 0.39}]
chr17	GH17I040726	40726970	40728820	0.72	[{'connected_gene': 'KRT24', 'score': 11.96}, {'connected_gene': 'TMEM99', 'score': 10.93}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRT222', 'score': 9.51}, {'connected_gene': 'SMARCE1', 'score': 9.49}, {'connected_gene': 'KRT37', 'score': 9.03}, {'connected_gene': 'KRT223P', 'score': 0.44}, {'connected_gene': 'KRT25', 'score': 0.31}]
chr17	GH17I040846	40846920	40847005	0.58	[{'connected_gene': 'TMEM99', 'score': 34.99}, {'connected_gene': 'KRT10', 'score': 16.52}, {'connected_gene': 'KRT28', 'score': 10.62}, {'connected_gene': 'KRT27', 'score': 9.96}, {'connected_gene': 'KRT26', 'score': 9.59}, {'connected_gene': 'ENSG00000234477', 'score': 9.5}, {'connected_gene': 'KRT222', 'score': 8.91}, {'connected_gene': 'SMARCE1', 'score': 8.91}, {'connected_gene': 'KRTAP2-1', 'score': 1.71}, {'connected_gene': 'LOC105371777', 'score': 0.77}, {'connected_gene': 'PIR55120', 'score': 0.39}]
chr17	GH17I040217	40217716	40220601	2.34	[{'connected_gene': 'WIPF2', 'score': 552.71}, {'connected_gene': 'MED1', 'score': 45.8}, {'connected_gene': 'CDK12', 'score': 41.29}, {'connected_gene': 'SMARCE1', 'score': 39.19}, {'connected_gene': 'RAPGEFL1', 'score': 19.61}, {'connected_gene': 'PGAP3', 'score': 13.71}, {'connected_gene': 'MSL1', 'score': 12.22}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'IGFBP4', 'score': 10.11}, {'connected_gene': 'ENSG00000266208', 'score': 9.33}, {'connected_gene': 'KRT222', 'score': 8.63}, {'connected_gene': 'THRA', 'score': 4.17}, {'connected_gene': 'NR1D1', 'score': 1.52}, {'connected_gene': 'RARA', 'score': 1.36}, {'connected_gene': 'MIR6867', 'score': 0.31}, {'connected_gene': 'GC17P040124', 'score': 0.16}]
chr17	GH17I040633	40632389	40632538	0.2	[{'connected_gene': 'KRT222', 'score': 10.25}, {'connected_gene': 'SMARCE1', 'score': 4.87}, {'connected_gene': 'PIR34828', 'score': 0.44}, {'connected_gene': 'GC17P040641', 'score': 0.44}, {'connected_gene': 'ENSG00000264058', 'score': 0.29}]
chr17	GH17I040664	40664801	40665000	0.59	[{'connected_gene': 'KRT222', 'score': 550.77}, {'connected_gene': 'ENSG00000264058', 'score': 550.77}, {'connected_gene': 'PIR54879', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 0.37}]
chr17	GH17I040632	40632968	40634131	0.2	[{'connected_gene': 'KRT222', 'score': 10.25}, {'connected_gene': 'PIR34828', 'score': 0.44}, {'connected_gene': 'GC17P040641', 'score': 0.44}, {'connected_gene': 'SMARCE1', 'score': 0.39}, {'connected_gene': 'ENSG00000264058', 'score': 0.29}]
chr17	GH17I040665	40665154	40665213	0.87	[{'connected_gene': 'KRT222', 'score': 550.77}, {'connected_gene': 'ENSG00000264058', 'score': 550.77}, {'connected_gene': 'PIR54879', 'score': 550.77}]
chr17	GH17I040626	40626760	40628544	0.43	[{'connected_gene': 'PIR34828', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 10.6}, {'connected_gene': 'KRT222', 'score': 10.54}, {'connected_gene': 'GC17P040641', 'score': 0.39}]
chr17	GH17I040600	40600292	40600759	0.2	[{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 28.89}, {'connected_gene': 'CCR7', 'score': 16.13}, {'connected_gene': 'KRT222', 'score': 10.3}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'GC17M040594', 'score': 0.37}]
chr17	GH17I040595	40595775	40600078	1.62	[{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 42.57}, {'connected_gene': 'CCR7', 'score': 18.01}, {'connected_gene': 'SNORD124', 'score': 10.43}, {'connected_gene': 'KRT222', 'score': 9.86}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'RARA', 'score': 4.1}, {'connected_gene': 'WIPF2', 'score': 2.15}, {'connected_gene': 'KRTAP3-2', 'score': 1.55}, {'connected_gene': 'CASC3', 'score': 1.42}, {'connected_gene': 'KRTAP2-1', 'score': 1.25}, {'connected_gene': 'KRTAP2-2', 'score': 1.21}, {'connected_gene': 'GC17M040594', 'score': 0.37}]
chr17	GH17I040470	40470419	40477221	1.38	[{'connected_gene': 'GC17P040474', 'score': 550.77}, {'connected_gene': 'ENSG00000279806', 'score': 550.77}, {'connected_gene': 'GC17M040474', 'score': 550.77}, {'connected_gene': 'GC17P040473', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 32.78}, {'connected_gene': 'SNORD124', 'score': 23.32}, {'connected_gene': 'THRA', 'score': 15.85}, {'connected_gene': 'STARD3', 'score': 12.22}, {'connected_gene': 'IGFBP4', 'score': 11.04}, {'connected_gene': 'MED24', 'score': 10.42}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'CDC6', 'score': 5.2}, {'connected_gene': 'TNS4', 'score': 0.31}]
chr17	GH17I041618	41618489	41619648	0.56	[{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'ENSG00000259623', 'score': 12.34}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT222', 'score': 10.27}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'HSD17B1P1', 'score': 9.91}, {'connected_gene': 'KRT16', 'score': 7.11}, {'connected_gene': 'KRT17', 'score': 0.44}]
chr17	GH17I040809	40809645	40811306	0.9	[{'connected_gene': 'GC17P040810', 'score': 550.77}, {'connected_gene': 'KRT222', 'score': 9.32}, {'connected_gene': 'SMARCE1', 'score': 9.3}, {'connected_gene': 'TMEM99', 'score': 7.39}, {'connected_gene': 'MED24', 'score': 6.21}, {'connected_gene': 'LOC105371776', 'score': 0.44}]