BDgene

Gene Report

Basic Info
Approved Symbol MBNL1
Previous Symbol MBNL
Symbol Alias KIAA0428, EXP42, EXP40, EXP35, EXP
Approved Name muscleblind-like splicing regulator 1
Previous Name muscleblind (Drosophila)-like, "muscleblind-like (Drosophila)"
Location 3q25
Position chr3:152243828-152465780, 1
External Links HGNC: 6923
Entrez Gene: 4154
Ensembl: ENSG00000152601
UCSC: uc003ezm.3
No. of Studies 1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ? NO
Overlap with MDD? NO
Gene related studies (count: 1)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Hattori, E.,2009 SNP: rs2681437 After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 20)

GO terms by PBA (count: 3)

GO terms by database search (count: 17)


Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors
Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

LD-proxies (count: 0)


Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:152243828..152465780 View in gBrowse
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