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Relevance to Autism

Rare mutations in the AFF4 gene have been identified with autism (O'Roak et al., 2011; Sanders et al., 2012).

Molecular Function

May play a role in transcriptional regulation

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Highly Cited
AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23).
Recent Recommendation
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
CHOPS syndrome
DD, ID
Recent Recommendation
Regulation of AMP-activated protein kinase signaling by AFF4 protein, member of AF4 (ALL1-fused gene from chromosome 4) family of transcription fac...
Recent Recommendation
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disab...
Recent Recommendation
AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN006R001 
 synonymous_variant 
 c.2919G>A 
 p.Thr973= 
 De novo 
  
 Simplex 
 GEN006R002 
 missense_variant 
 c.760A>G 
 p.Thr254Ala 
 De novo 
  
  
 GEN006R003 
 missense_variant 
 c.761C>G 
 p.Thr254Ser 
 De novo 
  
  
 GEN006R004 
 missense_variant 
 c.772C>T 
 p.Arg258Trp 
 De novo 
  
  
 GEN006R005 
 missense_variant 
 c.3379C>A 
 p.Leu1127Met 
 Unknown 
  
  
 GEN006R006 
 synonymous_variant 
 c.855T>G 
 p.Thr285%3D 
 De novo 
  
  
 GEN006R007 
 splice_site_variant 
 c.123+2T>G 
  
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
5
Duplication
 1
 
5
Deletion
 1
 
5
Deletion
 2
 
5
Duplication
 1
 
5
Deletion-Duplication
 9
 

No Animal Model Data Available





Download AFF4's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AFF1 AF4/FMR2 family member 1 4299 P51825 MudPIT
Lin C , et al. 2010
AP2B1 adaptor-related protein complex 2, beta 1 subunit 163 P63010 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ARRB2 arrestin, beta 2 409 P32121 IP; LC-MS/MS
Huttlin EL , et al. 2015
CAMKV CaM kinase-like vesicle-associated protein 79012 Q8NCB2-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCNT1 cyclin T1 904 O60563 MudPIT; IP/WB; Size-exclusion chromatography (SEC)
Lin C , et al. 2010
CCNT1 cyclin T1 904 O60563 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCNT2 Cyclin-T2 905 O60583 MudPIT
Lin C , et al. 2010
CCNT2 Cyclin-T2 905 O60583 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDK9 cyclin-dependent kinase 9 1025 P50750 MudPIT; IP/WB; Size-exclusion chromatography (SEC)
Lin C , et al. 2010
CDK9 cyclin-dependent kinase 9 1025 P50750 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
DENND2D DENN domain-containing protein 2D 79961 Q9H6A0 IP; LC-MS/MS
Huttlin EL , et al. 2015
EAF1 ELL associated factor 1 85403 Q96JC9 MudPIT
Lin C , et al. 2010
EAF1 ELL associated factor 1 85403 Q96JC9 IP; LC-MS/MS
Huttlin EL , et al. 2015
EAF2 ELL-associated factor 2 55840 Q96CJ1 IP; LC-MS/MS
Huttlin EL , et al. 2015
EEL elongation factor RNA polymerase II 8178 P55199 MudPIT; IP/WB
Lin C , et al. 2010
EEL2 elongation factor, RNA polymerase II, 2 22936 O00472 MudPIT; IP/WB
Lin C , et al. 2010
EEL3 elongation factor RNA polymerase II-like 3 80237 Q9HB65 MudPIT; IP/WB
Lin C , et al. 2010
ELL elongation factor RNA polymerase II 8178 P55199 IP; LC-MS/MS
Huttlin EL , et al. 2015
ELL2 elongation factor, RNA polymerase II, 2 22936 O00472 IP; LC-MS/MS
Huttlin EL , et al. 2015
ELL3 RNA polymerase II elongation factor ELL3 80237 Q9HB65 IP; LC-MS/MS
Huttlin EL , et al. 2015
EPB41L5 erythrocyte membrane protein band 4.1 like 5 57669 Q9HCM4 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM9A Protein FAM9A 171482 Q8IZU1 IP; LC-MS/MS
Huttlin EL , et al. 2015
GOLGA2 golgin A2 2801 Q08379 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
HEXIM1 hexamethylene bis-acetamide inducible 1 10614 O94992 IP; LC-MS/MS
Huttlin EL , et al. 2015
MDK midkine (neurite growth-promoting factor 2) 4192 P21741 IP; LC-MS/MS
Huttlin EL , et al. 2015
MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 4298 Q03111 MudPIT; IP/WB
Lin C , et al. 2010
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 4300 P42568 MudPIT; IP/WB
Lin C , et al. 2010
MTUS2 microtubule associated tumor suppressor candidate 2 23281 J3KQA9 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PBX2 pre-B-cell leukemia homeobox 2 5089 P40425 IP; LC-MS/MS
Huttlin EL , et al. 2015
PES1 pescadillo ribosomal biogenesis factor 1 23481 O00541 IP; LC-MS/MS
Huttlin EL , et al. 2015
PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 5305 P48426 IP; LC-MS/MS
Huttlin EL , et al. 2015
RSBN1 round spermatid basic protein 1 54665 Q5VWQ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SIAH1 seven in absentia homolog 1 (Drosophila) 6477 Q8IUQ4 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
STAG1 stromal antigen 1 10274 Q6P275 IP/WB
Izumi K , et al. 2015
TOP3B topoisomerase (DNA) III beta 8940 O95985 IP/WB
Xu D , et al. 2013
TRAF2 TNF receptor-associated factor 2 7186 Q12933 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014

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