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
ENST00000426926	[[136243116, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136253540, 136254529]]	[[136243344, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136253540, 136253630]]
ENST00000371957	[[136243237, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136255309, 136255380], [136256456, 136256572], [136259417, 136259536], [136260726, 136260890], [136262290, 136262421], [136263098, 136263182], [136265540, 136265657], [136266866, 136267007], [136268006, 136268141], [136268823, 136268952], [136269043, 136269172], [136269912, 136270053], [136270375, 136271220]]	[[136243344, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136255309, 136255380], [136256456, 136256572], [136259417, 136259536], [136260726, 136260890], [136262290, 136262421], [136263098, 136263182], [136265540, 136265657], [136266866, 136267007], [136268006, 136268141], [136268823, 136268952], [136269043, 136269172], [136269912, 136270053], [136270375, 136270545]]
ENST00000371955	[[136243283, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136255309, 136255380], [136256456, 136256572], [136259417, 136259536], [136260726, 136260890], [136262290, 136262421], [136263098, 136263182], [136265540, 136265657], [136268823, 136268952], [136269043, 136269172], [136269912, 136270053], [136270375, 136271220]]	[[136265584, 136265657], [136268823, 136268952], [136269043, 136269172], [136269912, 136270053], [136270375, 136270545]]
ENST00000468046	[[136245908, 136245993], [136249639, 136250339]]	None
ENST00000475232	[[136245927, 136245993], [136249639, 136249684], [136250384, 136250539]]	None
ENST00000462310	[[136258997, 136259536], [136260726, 136260931]]	None
ENST00000477284	[[136259913, 136259946], [136260726, 136261210]]	None
NM_153710	[[136243283, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136255309, 136255380], [136256456, 136256572], [136259417, 136259536], [136260726, 136260890], [136262290, 136262421], [136263098, 136263182], [136265540, 136265657], [136266866, 136267007], [136268006, 136268141], [136268823, 136268952], [136269043, 136269172], [136269912, 136270053], [136270375, 136271220]]	[[136243344, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136255309, 136255380], [136256456, 136256572], [136259417, 136259536], [136260726, 136260890], [136262290, 136262421], [136263098, 136263182], [136265540, 136265657], [136266866, 136267007], [136268006, 136268141], [136268823, 136268952], [136269043, 136269172], [136269912, 136270053], [136270375, 136270545]]
NR_103997	[[136243283, 136243431], [136245906, 136245993], [136249639, 136249684], [136251400, 136251475], [136253230, 136253332], [136253540, 136253626], [136254215, 136255380], [136259417, 136259536], [136260726, 136260890], [136265540, 136265657], [136268823, 136268952], [136269043, 136269172], [136269912, 136270053], [136270375, 136271220]]	None

Promoter

Chrom	Start	End	Description
chr9	136243210	136243245	CAGE_peak_1_at_C9orf96_5end
chr9	136243264	136243277	CAGE_peak_4_at_C9orf96_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I133029	133029451	133031962	2.13	[{'connected_gene': 'GTF3C5', 'score': 608.67}, {'connected_gene': 'LOC105376306', 'score': 550.77}, {'connected_gene': 'SETX', 'score': 81.52}, {'connected_gene': 'TTF1', 'score': 54.6}, {'connected_gene': 'MED22', 'score': 49.32}, {'connected_gene': 'DDX31', 'score': 49.04}, {'connected_gene': 'TSC1', 'score': 44.67}, {'connected_gene': 'GTF3C4', 'score': 37.11}, {'connected_gene': 'BRD3OS', 'score': 22.75}, {'connected_gene': 'SPACA9', 'score': 22.0}, {'connected_gene': 'MED27', 'score': 20.93}, {'connected_gene': 'AK8', 'score': 20.7}, {'connected_gene': 'EEF1A1P5', 'score': 19.69}, {'connected_gene': 'SURF6', 'score': 18.56}, {'connected_gene': 'REXO4', 'score': 17.99}, {'connected_gene': 'RPL7A', 'score': 11.8}, {'connected_gene': 'STKLD1', 'score': 10.38}, {'connected_gene': 'RALGDS', 'score': 8.1}, {'connected_gene': 'CEL', 'score': 7.29}, {'connected_gene': 'MIR6877', 'score': 0.34}]
chr9	GH09I132944	132943228	132943239	0.34	[{'connected_gene': 'GFI1B', 'score': 550.77}, {'connected_gene': 'RALGDS', 'score': 1.91}, {'connected_gene': 'STKLD1', 'score': 1.47}, {'connected_gene': 'TSC1', 'score': 0.77}, {'connected_gene': 'PIR193201', 'score': 0.29}]
chr9	GH09I133281	133281994	133282721	0.38	[{'connected_gene': 'SURF6', 'score': 11.56}, {'connected_gene': 'ENSG00000230064', 'score': 11.55}, {'connected_gene': 'ENSG00000201451', 'score': 11.55}, {'connected_gene': 'STKLD1', 'score': 10.43}, {'connected_gene': 'SURF4', 'score': 10.42}, {'connected_gene': 'ADAMTS13', 'score': 5.39}, {'connected_gene': 'DDX31', 'score': 4.89}, {'connected_gene': 'ABO', 'score': 0.44}, {'connected_gene': 'PIR42730', 'score': 0.37}]
chr9	GH09I133384	133384590	133385011	0.66	[{'connected_gene': 'SURF6', 'score': 4.67}, {'connected_gene': 'STKLD1', 'score': 0.44}, {'connected_gene': 'SURF4', 'score': 0.44}, {'connected_gene': 'PIR53901', 'score': 0.39}]
chr9	GH09I133491	133491725	133493447	0.51	[{'connected_gene': 'SURF4', 'score': 15.77}, {'connected_gene': 'CACFD1', 'score': 12.1}, {'connected_gene': 'ADAMTS13', 'score': 11.99}, {'connected_gene': 'REXO4', 'score': 11.42}, {'connected_gene': 'ADAMTSL2', 'score': 11.16}, {'connected_gene': 'ENSG00000230064', 'score': 11.13}, {'connected_gene': 'ENSG00000201451', 'score': 11.13}, {'connected_gene': 'SURF6', 'score': 11.12}, {'connected_gene': 'MYMK', 'score': 11.11}, {'connected_gene': 'STKLD1', 'score': 11.1}, {'connected_gene': 'FAM163B', 'score': 10.38}, {'connected_gene': 'SURF1', 'score': 5.74}, {'connected_gene': 'LOC102723855', 'score': 0.77}, {'connected_gene': 'SLC2A6', 'score': 0.39}]
chr9	GH09I133416	133416223	133419731	2.38	[{'connected_gene': 'REXO4', 'score': 550.77}, {'connected_gene': 'SURF1', 'score': 32.9}, {'connected_gene': 'SURF6', 'score': 26.52}, {'connected_gene': 'MED22', 'score': 23.77}, {'connected_gene': 'RPL7A', 'score': 23.28}, {'connected_gene': 'ENSG00000273473', 'score': 16.85}, {'connected_gene': 'GTF3C5', 'score': 16.27}, {'connected_gene': 'DDX31', 'score': 15.48}, {'connected_gene': 'BRD3OS', 'score': 13.57}, {'connected_gene': 'ADAMTS13', 'score': 13.23}, {'connected_gene': 'CACFD1', 'score': 12.41}, {'connected_gene': 'SURF2', 'score': 11.74}, {'connected_gene': 'SNORD36C', 'score': 11.74}, {'connected_gene': 'SNORD24', 'score': 11.74}, {'connected_gene': 'SNORD36B', 'score': 11.74}, {'connected_gene': 'SNORD36A', 'score': 11.74}, {'connected_gene': 'EEF1A1P5', 'score': 11.31}, {'connected_gene': 'WDR5', 'score': 10.01}, {'connected_gene': 'STKLD1', 'score': 1.72}]
chr9	GH09I133903	133903660	133905253	0.2	[{'connected_gene': 'STKLD1', 'score': 4.97}, {'connected_gene': 'GC09M133930', 'score': 0.28}, {'connected_gene': 'VAV2', 'score': 0.17}, {'connected_gene': 'GC09P133784', 'score': 0.13}]
chr9	GH09I133373	133373943	133377001	2.21	[{'connected_gene': 'STKLD1', 'score': 550.77}, {'connected_gene': 'SURF4', 'score': 550.77}, {'connected_gene': 'SURF6', 'score': 34.14}, {'connected_gene': 'SURF1', 'score': 14.54}, {'connected_gene': 'LOC100130548', 'score': 13.52}, {'connected_gene': 'WDR5', 'score': 11.5}, {'connected_gene': 'GTF3C5', 'score': 11.23}, {'connected_gene': 'ADAMTS13', 'score': 10.33}, {'connected_gene': 'PIR60170', 'score': 0.44}]
chr9	GH09I133485	133485896	133486973	1.07	[{'connected_gene': 'CACFD1', 'score': 16.98}, {'connected_gene': 'ADAMTS13', 'score': 11.65}, {'connected_gene': 'REXO4', 'score': 11.43}, {'connected_gene': 'ENSG00000230064', 'score': 11.13}, {'connected_gene': 'ENSG00000201451', 'score': 11.13}, {'connected_gene': 'SURF6', 'score': 11.13}, {'connected_gene': 'SURF4', 'score': 11.12}, {'connected_gene': 'STKLD1', 'score': 11.11}, {'connected_gene': 'MYMK', 'score': 11.1}, {'connected_gene': 'ADAMTSL2', 'score': 11.08}, {'connected_gene': 'LOC100130548', 'score': 10.92}, {'connected_gene': 'SLC2A6', 'score': 0.44}, {'connected_gene': 'LOC102723855', 'score': 0.44}]
chr9	GH09I133386	133386195	133389002	1.02	[{'connected_gene': 'ADAMTS13', 'score': 10.33}, {'connected_gene': 'SURF4', 'score': 0.44}, {'connected_gene': 'STKLD1', 'score': 0.39}, {'connected_gene': 'PIR53901', 'score': 0.39}]
chr9	GH09I134134	134134080	134138095	2.01	[{'connected_gene': 'WDR5', 'score': 570.7}, {'connected_gene': 'ENSG00000273249', 'score': 550.77}, {'connected_gene': 'STKLD1', 'score': 10.48}, {'connected_gene': 'SARDH', 'score': 5.09}, {'connected_gene': 'RNU6ATAC', 'score': 0.31}, {'connected_gene': 'GC09M134165', 'score': 0.31}]
chr9	GH09I133405	133405595	133406365	0.43	[{'connected_gene': 'PIR41096', 'score': 550.77}, {'connected_gene': 'GC09P133434', 'score': 550.77}, {'connected_gene': 'SURF6', 'score': 25.16}, {'connected_gene': 'SURF1', 'score': 12.44}, {'connected_gene': 'ADAMTS13', 'score': 10.46}, {'connected_gene': 'REXO4', 'score': 10.36}, {'connected_gene': 'STKLD1', 'score': 0.31}]
chr9	GH09I133367	133367375	133373374	1.18	[{'connected_gene': 'PIR60170', 'score': 550.77}, {'connected_gene': 'PIR38866', 'score': 550.77}, {'connected_gene': 'SURF6', 'score': 44.95}, {'connected_gene': 'SURF1', 'score': 26.42}, {'connected_gene': 'ADAMTS13', 'score': 22.05}, {'connected_gene': 'SNORD24', 'score': 12.95}, {'connected_gene': 'SNORD36B', 'score': 12.95}, {'connected_gene': 'MED22', 'score': 12.95}, {'connected_gene': 'RPL7A', 'score': 12.95}, {'connected_gene': 'ENSG00000230064', 'score': 11.17}, {'connected_gene': 'ENSG00000201451', 'score': 11.17}, {'connected_gene': 'GBGT1', 'score': 10.73}, {'connected_gene': 'RALGDS', 'score': 10.72}, {'connected_gene': 'CACFD1', 'score': 10.28}, {'connected_gene': 'STKLD1', 'score': 0.44}, {'connected_gene': 'SURF4', 'score': 0.44}]
chr9	GH09I133280	133280428	133280577	0.62	[{'connected_gene': 'ENSG00000230064', 'score': 11.55}, {'connected_gene': 'SURF6', 'score': 11.55}, {'connected_gene': 'ENSG00000201451', 'score': 11.55}, {'connected_gene': 'STKLD1', 'score': 10.42}, {'connected_gene': 'SURF4', 'score': 10.42}, {'connected_gene': 'SURF1', 'score': 4.79}, {'connected_gene': 'ABO', 'score': 0.44}, {'connected_gene': 'PIR42730', 'score': 0.34}]
chr9	GH09I133279	133279503	133279568	0.2	[{'connected_gene': 'ENSG00000230064', 'score': 11.55}, {'connected_gene': 'SURF6', 'score': 11.55}, {'connected_gene': 'ENSG00000201451', 'score': 11.55}, {'connected_gene': 'STKLD1', 'score': 10.42}, {'connected_gene': 'SURF4', 'score': 10.42}, {'connected_gene': 'LCN1P1', 'score': 5.7}, {'connected_gene': 'ABO', 'score': 0.77}, {'connected_gene': 'PIR42730', 'score': 0.34}]
chr9	GH09I133403	133403917	133404146	0.73	[{'connected_gene': 'PIR41096', 'score': 550.77}, {'connected_gene': 'GC09P133434', 'score': 550.77}, {'connected_gene': 'ADAMTS13', 'score': 10.28}, {'connected_gene': 'PIR53901', 'score': 0.44}, {'connected_gene': 'STKLD1', 'score': 0.31}]