Gene Report

Basic Info
Approved Symbol DIAPH1
Previous Symbol DFNA1
Symbol Alias hDIA1, LFHL1
Approved Name diaphanous-related formin 1
Previous Name diaphanous (Drosophila, homolog) 1, "diaphanous homolog 1 (Drosophila)"
Location 5q31
Position chr5:141515016-141619055, -1
External Links HGNC: 2876
Entrez Gene: 1729
Ensembl: ENSG00000131504
UCSC: uc003llb.4
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
Drago, A., 2016 Freq(Significant SNPs/total SNPs%)=0.04. This gene encodes for a poteind required for the assembly of F-actin structures. May as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration and it seem to have a neurite outgrowth promoting activity. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 22)

GO terms by PBA (count: 4)

GO terms by database search (count: 18)

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)

Gene related interactors from protein-protein interactions data in HPRD (count: 9)

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

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

Gene relationship with MDD

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Region: chr5:141515016..141619055 View in gBrowse
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