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
ENST00000221403	[[49436938, 49437068], [49438256, 49438368], [49439288, 49439452], [49442705, 49442958], [49445696, 49445821], [49447613, 49447764], [49448080, 49448226]]	[[49436978, 49437068], [49438256, 49438368], [49439288, 49439452], [49442705, 49442958], [49445696, 49445821], [49447613, 49447764], [49448080, 49448190]]
ENST00000523250	[[49436958, 49437068], [49438256, 49438368], [49445696, 49445821], [49447613, 49447764], [49448080, 49448216]]	[[49436978, 49437068], [49438256, 49438368], [49445696, 49445821], [49447613, 49447764], [49448080, 49448190]]
ENST00000522614	[[49436961, 49437068], [49438256, 49438368], [49439288, 49439452], [49442705, 49442958], [49448080, 49448220]]	[[49436978, 49437068], [49438256, 49438368], [49439288, 49439452], [49442705, 49442958], [49448080, 49448190]]
ENST00000520557	[[49437014, 49437068], [49438256, 49438368], [49442705, 49442958], [49447613, 49447764], [49448080, 49448225]]	[[49437014, 49437068], [49438256, 49438368], [49442705, 49442953]]
NM_014475	[[49436938, 49437068], [49438256, 49438368], [49439288, 49439452], [49442705, 49442958], [49445696, 49445821], [49447613, 49447764], [49448080, 49448226]]	[[49436978, 49437068], [49438256, 49438368], [49439288, 49439452], [49442705, 49442958], [49445696, 49445821], [49447613, 49447764], [49448080, 49448190]]

Promoter

Chrom	Start	End	Description
chr19	49436936	49436971	CAGE_peak_1_at_DHDH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I048933	48933002	48934173	1.9	[{'connected_gene': 'DHDH', 'score': 556.15}, {'connected_gene': 'GC19P048929', 'score': 0.77}]
chr19	GH19I048958	48958905	48969153	2.91	[{'connected_gene': 'FTL', 'score': 552.4}, {'connected_gene': 'GC19P048967', 'score': 550.77}, {'connected_gene': 'ENSG00000267898', 'score': 550.77}, {'connected_gene': 'GC19P048966', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 82.3}, {'connected_gene': 'PTOV1-AS2', 'score': 59.3}, {'connected_gene': 'IRF3', 'score': 58.81}, {'connected_gene': 'PRR12', 'score': 55.41}, {'connected_gene': 'SNORD35A', 'score': 52.87}, {'connected_gene': 'SNORD35B', 'score': 52.19}, {'connected_gene': 'ALDH16A1', 'score': 47.83}, {'connected_gene': 'GRWD1', 'score': 46.86}, {'connected_gene': 'PIH1D1', 'score': 45.72}, {'connected_gene': 'PNKP', 'score': 43.31}, {'connected_gene': 'KDELR1', 'score': 31.64}, {'connected_gene': 'PPP1R15A', 'score': 26.55}, {'connected_gene': 'RUVBL2', 'score': 25.65}, {'connected_gene': 'RPS11', 'score': 23.61}, {'connected_gene': 'ENSG00000268047', 'score': 23.44}, {'connected_gene': 'RPL18', 'score': 22.56}, {'connected_gene': 'CPT1C', 'score': 21.16}, {'connected_gene': 'DKKL1', 'score': 20.95}, {'connected_gene': 'RPL13A', 'score': 20.8}, {'connected_gene': 'BAX', 'score': 20.63}, {'connected_gene': 'PTOV1', 'score': 18.63}, {'connected_gene': 'IZUMO1', 'score': 16.67}, {'connected_gene': 'ENSG00000268093', 'score': 15.43}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'SEC1P', 'score': 13.96}, {'connected_gene': 'ZSWIM9', 'score': 12.7}, {'connected_gene': 'NUCB1', 'score': 11.69}, {'connected_gene': 'TULP2', 'score': 11.69}, {'connected_gene': 'NUCB1-AS1', 'score': 11.55}, {'connected_gene': 'NOSIP', 'score': 11.36}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'BCAT2', 'score': 11.1}, {'connected_gene': 'GYS1', 'score': 11.08}, {'connected_gene': 'RASIP1', 'score': 10.66}, {'connected_gene': 'ADM5', 'score': 10.36}, {'connected_gene': 'HSD17B14', 'score': 10.33}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'SLC6A16', 'score': 10.11}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'FLT3LG', 'score': 9.93}, {'connected_gene': 'CYTH2', 'score': 9.76}, {'connected_gene': 'DHDH', 'score': 5.28}, {'connected_gene': 'CD37', 'score': 3.53}]
chr19	GH19I048937	48937486	48938221	0.8	[{'connected_gene': 'CPT1C', 'score': 4.96}, {'connected_gene': 'DHDH', 'score': 0.77}, {'connected_gene': 'GC19P048950', 'score': 0.39}]
chr19	GH19I048509	48509412	48512800	1.33	[{'connected_gene': 'NOP53-AS1', 'score': 20.72}, {'connected_gene': 'SNORD35A', 'score': 17.7}, {'connected_gene': 'BICRA', 'score': 17.58}, {'connected_gene': 'SNORD35B', 'score': 16.66}, {'connected_gene': 'ALDH16A1', 'score': 15.3}, {'connected_gene': 'GRWD1', 'score': 13.04}, {'connected_gene': 'DKKL1', 'score': 12.66}, {'connected_gene': 'NOP53', 'score': 12.45}, {'connected_gene': 'PIH1D1', 'score': 11.87}, {'connected_gene': 'KDELR1', 'score': 11.83}, {'connected_gene': 'SNRNP70', 'score': 11.38}, {'connected_gene': 'CYTH2', 'score': 10.92}, {'connected_gene': 'RPL18', 'score': 10.67}, {'connected_gene': 'RPS11', 'score': 10.59}, {'connected_gene': 'RPL13A', 'score': 10.32}, {'connected_gene': 'SNORD23', 'score': 9.68}, {'connected_gene': 'DHDH', 'score': 7.51}, {'connected_gene': 'NTF4', 'score': 4.23}, {'connected_gene': 'ENSG00000269814', 'score': 0.77}, {'connected_gene': 'LMTK3', 'score': 0.77}, {'connected_gene': 'GC19P048479', 'score': 0.29}]