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
ENST00000307169	[[36003247, 36006260]]	[[36003458, 36005159]]
NM_032594	[[36003247, 36006260]]	[[36003458, 36005159]]

Promoter

Chrom	Start	End	Description
chr14	36003363	36003378	CAGE_peak_1_at_INSM2_5end
chr14	36003405	36003408	CAGE_peak_3_at_INSM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I035533	35533800	35534201	1.83	[{'connected_gene': 'INSM2', 'score': 550.77}, {'connected_gene': 'RALGAPA1', 'score': 16.53}, {'connected_gene': 'KRT18P6', 'score': 0.34}]
chr14	GH14I035140	35140835	35140984	0.72	[{'connected_gene': 'INSM2', 'score': 10.34}, {'connected_gene': 'RPL23AP70', 'score': 0.77}, {'connected_gene': 'KIAA0391', 'score': 0.37}, {'connected_gene': 'ENSG00000258790', 'score': 0.37}]
chr14	GH14I035535	35535295	35535444	1.02	[{'connected_gene': 'INSM2', 'score': 550.77}, {'connected_gene': 'GC14P035558', 'score': 0.34}]
chr14	GH14I035550	35550818	35551792	0.98	[{'connected_gene': 'RALGAPA1', 'score': 11.02}, {'connected_gene': 'GC14P035558', 'score': 0.44}, {'connected_gene': 'INSM2', 'score': 0.37}]
chr14	GH14I035415	35414994	35418895	1.49	[{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.84}, {'connected_gene': 'SRP54-AS1', 'score': 4.83}, {'connected_gene': 'INSM2', 'score': 4.22}, {'connected_gene': 'RALGAPA1', 'score': 4.19}, {'connected_gene': 'NFKBIA', 'score': 2.88}, {'connected_gene': 'FAM177A1', 'score': 1.76}, {'connected_gene': 'BRMS1L', 'score': 1.21}, {'connected_gene': 'PPP2R3C', 'score': 1.17}, {'connected_gene': 'DNAJC8P1', 'score': 0.39}]
chr14	GH14I035700	35700114	35700403	0.58	[{'connected_gene': 'ENSG00000253059', 'score': 10.41}, {'connected_gene': 'INSM2', 'score': 9.95}, {'connected_gene': 'GC14P035726', 'score': 0.34}, {'connected_gene': 'RALGAPA1', 'score': 0.14}, {'connected_gene': 'GC14P035558', 'score': 0.11}]
chr14	GH14I035509	35509774	35510241	0.58	[{'connected_gene': 'GC14P035509', 'score': 550.77}, {'connected_gene': 'RALGAPA1', 'score': 21.24}, {'connected_gene': 'INSM2', 'score': 12.39}, {'connected_gene': 'KRT18P6', 'score': 0.77}]