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
ENST00000351205	[[70220767, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70241892, 70242003], [70247767, 70247821], [70248265, 70248841]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70241892, 70242003], [70247767, 70247818]]
ENST00000503079	[[70220856, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70241892, 70242003], [70247767, 70248174]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70241892, 70242003], [70247767, 70247818]]
ENST00000380707	[[70220856, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70247767, 70247821], [70248265, 70248839]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70247767, 70247818]]
ENST00000514951	[[70220882, 70221011], [70234665, 70234737], [70237215, 70237335], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70247767, 70248394]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70247767, 70247818]]
ENST00000506239	[[70220901, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70242533, 70242642], [70248265, 70248843]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70242533, 70242584]]
ENST00000506163	[[70220921, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70248265, 70248867]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70248265, 70248280]]
ENST00000518504	[[70238298, 70238385], [70238544, 70238697], [70241892, 70242105]]	None
ENST00000507905	[[70238334, 70238385], [70238544, 70238697], [70240275, 70240392], [70240484, 70240580], [70241892, 70241906]]	[[70238334, 70238385], [70238544, 70238697], [70240275, 70240311]]
ENST00000513228	[[70238344, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242101]]	None
ENST00000510679	[[70241915, 70242003], [70247767, 70247821], [70248265, 70248407], [70249008, 70249769]]	None
NM_022874	[[70220767, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70241892, 70242003], [70247767, 70247821], [70248265, 70248839]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70241892, 70242003], [70247767, 70247818]]
NM_001297715	[[70220767, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70248265, 70248839]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70248265, 70248280]]
NM_000344	[[70220767, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70247767, 70247821], [70248265, 70248839]]	[[70220930, 70221011], [70234665, 70234737], [70237215, 70237335], [70238184, 70238385], [70238544, 70238697], [70240484, 70240580], [70241892, 70242003], [70247767, 70247818]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I070900	70900201	70901801	1	[{'connected_gene': 'SERF1A', 'score': 550.77}, {'connected_gene': 'SMN1', 'score': 0.34}]
chr5	GH05I070931	70931698	70932570	0.2	[{'connected_gene': 'SMN1', 'score': 0.44}, {'connected_gene': 'NAIP', 'score': 0.16}]
chr5	GH05I070953	70953001	70953200	0.2	[{'connected_gene': 'SMN1', 'score': 0.31}, {'connected_gene': 'NAIP', 'score': 0.19}]
chr5	GH05I070924	70924400	70926401	1.23	[{'connected_gene': 'SMN1', 'score': 550.77}, {'connected_gene': 'NAIP', 'score': 0.15}]
chr5	GH05I071481	71481820	71484632	0.79	[{'connected_gene': 'MCCC2', 'score': 15.63}, {'connected_gene': 'BDP1', 'score': 13.62}, {'connected_gene': 'LOC653080', 'score': 11.75}, {'connected_gene': 'GUSBP9', 'score': 11.54}, {'connected_gene': 'SMN1', 'score': 11.03}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'NAIP', 'score': 4.61}, {'connected_gene': 'LOC100419852', 'score': 0.44}, {'connected_gene': 'HMGN1P12', 'score': 0.23}]
chr5	GH05I071002	71002801	71003800	0.2	[{'connected_gene': 'NAIP', 'score': 0.34}, {'connected_gene': 'SMN1', 'score': 0.18}]
chr5	GH05I071017	71017001	71021800	0.2	[{'connected_gene': 'NAIP', 'score': 0.44}, {'connected_gene': 'SMN1', 'score': 0.16}]
chr5	GH05I070952	70952201	70952800	0.2	[{'connected_gene': 'GTF2H2', 'score': 5.93}, {'connected_gene': 'ENSG00000179978', 'score': 4.09}, {'connected_gene': 'SMN1', 'score': 0.31}, {'connected_gene': 'NAIP', 'score': 0.19}]