Aliases for AFF4 Gene
Aliases for AFF4 Gene
External Ids for AFF4 Gene
- HGNC: 17869
- Entrez Gene: 27125
- Ensembl: ENSG00000072364
- OMIM: 604417
- UniProtKB: Q9UHB7
Previous GeneCards Identifiers for AFF4 Gene
- GC05M132243
- GC05M132211
- GC05M127403
Summaries for AFF4 Gene
-
The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
GeneCards Summary for AFF4 Gene
AFF4 (AF4/FMR2 Family Member 4) is a Protein Coding gene. Diseases associated with AFF4 include Chops Syndrome and Lymphoblastic Leukemia. Among its related pathways are Gene Expression and Formation of HIV elongation complex in the absence of HIV Tat. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is AFF1.
UniProtKB/Swiss-Prot for AFF4 Gene
-
Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression.
Additional gene information for AFF4 Gene
- Monarch Initiative
- Search for AFF4 at DataMed
- Search for AFF4 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFF4 Gene
Genomics for AFF4 Gene
GeneHancer (GH) Regulatory Elements for AFF4 Gene
Promoters and enhancers for AFF4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AFF4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for AFF4 Gene
Genomic Locations for AFF4 Gene
- chr5:132,875,379-132,963,662
- (GRCh38/hg38)
- Size:
- 88,284 bases
- Orientation:
- Minus strand
- chr5:132,211,071-132,299,354
- (GRCh37/hg19)
Genomic View for AFF4 Gene
Genes around AFF4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q31.1 by Ensembl
- 5q31.1 by Entrez Gene
- 5q31.1 by HGNC
AFF4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AFF4 Gene
Proteins for AFF4 Gene
-
Protein details for AFF4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UHB7-AFF4_HUMAN
- Recommended name:
- AF4/FMR2 family member 4
- Protein Accession:
- Q9UHB7
- B2RP19
- B7WPD2
- Q498B2
- Q59FB3
- Q6P592
- Q8TDR1
- Q9P0E4
Protein attributes for AFF4 Gene
- Size:
- 1163 amino acids
- Molecular mass:
- 127459 Da
- Quaternary structure:
-
- Interacts with ELL3; the interaction is direct (By similarity). Interacts with ELL2; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination and degradation. Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL.
- SequenceCaution:
-
- Sequence=AAI00288.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92784.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for AFF4 Gene
Protein Expression for AFF4 Gene
Post-translational modifications for AFF4 Gene
Other Protein References for AFF4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AFF4
- Novus Biologicals Antibodies for AFF4
-
Abcam antibodies for AFF4
- Invitrogen Antibodies for AFF4
- Search GeneTex for Antibodies for AFF4
-
Santa Cruz Biotechnology (SCBT) Antibodies for AFF4
Protein Products
-
OriGene Purified Proteins for AFF4
- Search Origene for MassSpec and Protein Over-expression Lysates for AFF4
- Origene Custom Protein Services for AFF4
- antibodies-online: Search results for 4 available AFF4 Proteins ranked by validation data
- Compare Top AFF4 Proteins
-
Quality Products:
- Search GeneTex for Proteins for AFF4
-
Abcam proteins for AFF4
Assay Products
- antibodies-online: Search results for available AFF4 related products ranked by validation data
No data available for DME Specific Peptides for AFF4 Gene
Domains & Families for AFF4 Gene
Gene Families for AFF4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for AFF4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AFF4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UHB7- Family:
-
- Belongs to the AF4 family.
Function for AFF4 Gene
Molecular function for AFF4 Gene
- UniProtKB/Swiss-Prot Function:
- Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression.
Phenotypes From GWAS Catalog for AFF4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003700 | DNA binding transcription factor activity | TAS | 10588740 |
| GO:0005515 | protein binding | IPI | 20153263 |
Phenotypes for AFF4 Gene
- MGI mutant phenotypes for AFF4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AFF4:
Animal Models for AFF4 Gene
- MGI Knock Outs for AFF4:
-
- Aff4 tm1Nosa
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AFF4
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AFF4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
- Search ViGene Biosciences for AFF4
CRISPR Products
-
OriGene CRISPR knockouts for AFF4
- genomics-online: gRNA clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
- Applied Biological Materials CRISPR for AFF4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AFF4
- GenScript: Design CRISPR guide RNA sequences for AFF4
miRNA for AFF4 Gene
- miRTarBase miRNAs that target AFF4
-
- hsa-mir-374b-5p (MIRT016084)
- hsa-mir-421 (MIRT016134)
- hsa-mir-335-5p (MIRT018533)
- hsa-mir-128-3p (MIRT022101)
- hsa-mir-101-3p (MIRT027364)
- hsa-mir-27a-3p (MIRT028734)
- hsa-mir-532-3p (MIRT037928)
- hsa-mir-18a-5p (MIRT050659)
- hsa-let-7b-5p (MIRT052066)
- hsa-mir-3156-5p (MIRT094974)
- hsa-mir-7161-3p (MIRT094978)
- hsa-mir-126-5p (MIRT094992)
- hsa-mir-466 (MIRT095001)
- hsa-mir-4789-3p (MIRT095005)
- hsa-mir-101-5p (MIRT095008)
- hsa-mir-548c-3p (MIRT165349)
- hsa-mir-519d-5p (MIRT243846)
- hsa-mir-4795-3p (MIRT243849)
- hsa-mir-5695 (MIRT243850)
- hsa-mir-513a-3p (MIRT311608)
- hsa-mir-513c-3p (MIRT311609)
- hsa-mir-3606-3p (MIRT311610)
- hsa-mir-425-5p (MIRT371252)
- hsa-mir-4659a-5p (MIRT391126)
- hsa-mir-4659b-5p (MIRT391127)
- hsa-mir-205-5p (MIRT441250)
- hsa-mir-142-3p (MIRT441251)
- hsa-mir-4424 (MIRT482375)
- hsa-mir-642b-3p (MIRT482377)
- hsa-mir-642a-3p (MIRT482378)
- hsa-mir-936 (MIRT482379)
- hsa-mir-4776-3p (MIRT539359)
- hsa-mir-5590-5p (MIRT539360)
- hsa-mir-519e-5p (MIRT539361)
- hsa-mir-515-5p (MIRT539362)
- hsa-mir-4643 (MIRT539363)
- hsa-mir-302f (MIRT539364)
- hsa-mir-5006-3p (MIRT660845)
- hsa-mir-4755-5p (MIRT660846)
- hsa-mir-587 (MIRT660847)
- hsa-mir-211-5p (MIRT660848)
- hsa-mir-204-5p (MIRT660849)
- hsa-mir-623 (MIRT660850)
- hsa-mir-627-3p (MIRT660851)
- hsa-mir-6832-3p (MIRT660852)
- hsa-mir-3938 (MIRT660853)
- hsa-mir-30e-5p (MIRT728371)
- hsa-mir-30d-5p (MIRT728372)
- hsa-mir-30b-5p (MIRT728373)
- hsa-mir-30c-5p (MIRT728374)
- hsa-mir-30a-5p (MIRT728375)
- hsa-mir-27b-3p (MIRT728376)
- hsa-mir-181d-5p (MIRT728377)
- hsa-mir-181c-5p (MIRT728378)
- hsa-mir-181b-5p (MIRT728379)
- hsa-mir-181a-5p (MIRT728380)
- hsa-mir-195-5p (MIRT728381)
- hsa-mir-15b-5p (MIRT728382)
- hsa-mir-16-5p (MIRT728383)
- hsa-mir-15a-5p (MIRT728384)
miRNA Products
- Search ViGene Biosciences for AFF4
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AFF4
- Browse OriGene Inhibitory RNA Products For AFF4
- genomics-online: shRNA clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
Clone Products
- Sino Biological Human cDNA Clone for AFF4
- VectorBuilder custom plasmid, inducible vectors for AFF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for AFF4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AFF4
-
ViGene Biosciences adenoviral particle packaged cDNA for AFF4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AFF4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AFF4 Gene
Localization for AFF4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AFF4 Gene
- Nucleus. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| golgi apparatus | 1 |
- Nucleoli fibrillar center (3)
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0008023 | transcription elongation factor complex | IDA | 22195968 |
| GO:0035327 | transcriptionally active chromatin | ISS | -- |
Pathways & Interactions for AFF4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Formation of HIV elongation complex in the absence of HIV Tat | ||
| 2 | Gene Expression |
.48
|
|
Pathways by source for AFF4 Gene
Interacting Proteins for AFF4 Gene
Selected Interacting proteins:
Q9UHB7-AFF4_HUMAN
ENSP00000265343
for AFF4 Gene via
IID
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | TAS | -- |
| GO:0006368 | transcription elongation from RNA polymerase II promoter | TAS | -- |
| GO:0007286 | spermatid development | IEA | -- |
No data available for SIGNOR curated interactions for AFF4 Gene
Transcripts for AFF4 Gene
mRNA/cDNA for AFF4 Gene
- (4) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (238) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AFF4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for AFF4
- genomics-online: gRNA clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
- Applied Biological Materials CRISPR for AFF4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AFF4
- GenScript: Design CRISPR guide RNA sequences for AFF4
miRNA Products
- Search ViGene Biosciences for AFF4
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AFF4
- Browse OriGene Inhibitory RNA Products For AFF4
- genomics-online: shRNA clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
Clone Products
- Sino Biological Human cDNA Clone for AFF4
- VectorBuilder custom plasmid, inducible vectors for AFF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for AFF4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
| ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: |
Expression for AFF4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
- Lung (Respiratory System)
-
Testis (Reproductive System)
This gene is overexpressed in Plasma (31.0), Pancreatic juice (9.0), and Platelet (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AFF4 Gene
NURSA nuclear receptor signaling pathways regulating expression of AFF4 Gene:
AFF4SOURCE GeneReport for Unigene cluster for AFF4 Gene:
Hs.519313mRNA Expression by UniProt/SwissProt for AFF4 Gene:
Q9UHB7-AFF4_HUMAN
Tissue specificity:
Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain.
Evidence on tissue expression from TISSUES for AFF4 Gene
- Nervous system(4.7)
- Liver(4.4)
- Blood(4.3)
- Skin(4.3)
- Muscle(3.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AFF4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- vocal cord
Thorax:
- bronchus
- esophagus
- heart
- heart valve
- lung
- trachea
Abdomen:
- kidney
- stomach
Pelvis:
- testicle
- ureter
- urinary bladder
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for AFF4
- genomics-online: primer clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for AFF4 Gene
Orthologs for AFF4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AFF4 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | AFF4 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | AFF4 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aff4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Aff4 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AFF4 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AFF4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AFF4 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AFF4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aff4 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aff4 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | lilli 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4989 34 |
|
OneToMany |
- Species where no ortholog for AFF4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for AFF4 Gene
(4) SIMAP similar genes for AFF4 Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for AFF4 Gene
Variants for AFF4 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs786205233 | pathogenic, Chops syndrome, CHOPS syndrome (CHOPS) [MIM:616368] | 132,934,305(-) | T/C | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs786205679 | pathogenic, Chops syndrome, CHOPS syndrome (CHOPS) [MIM:616368] | 132,934,304(-) | G/C | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs786205680 | pathogenic, Chops syndrome, not provided, CHOPS syndrome (CHOPS) [MIM:616368] | 132,934,293(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs138116584 | likely-benign, not specified | 132,892,356(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs188073736 | likely-benign, not specified | 132,897,044(-) | G/A | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2730796 | CNV | deletion | 23290073 |
| esv3606811 | CNV | gain | 21293372 |
| esv3606812 | CNV | loss | 21293372 |
| nsv1022039 | CNV | gain | 25217958 |
| nsv1137531 | CNV | deletion | 24896259 |
| nsv475496 | CNV | novel sequence insertion | 20440878 |
| nsv5003 | CNV | deletion | 18451855 |
| nsv830489 | CNV | loss | 17160897 |
| nsv830490 | CNV | gain | 17160897 |
| nsv968987 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
5.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.62;
45.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AFF4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFF4 Gene
Disorders for AFF4 Gene
(2) MalaCards diseases for AFF4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chops syndrome |
|
|
| lymphoblastic leukemia |
|
|
Search AFF4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AFF4_HUMAN- CHOPS syndrome (CHOPS) [MIM:616368]: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. {ECO:0000269 PubMed:25730767}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion ins(5;11)(q31;q13q23) that forms a KMT2A/MLL1-AFF4 fusion protein.
Additional Disease Information for AFF4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AFF4 Gene
Publications for AFF4 Gene
- AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). (PMID: 10588740) Taki T … Hayashi Y (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 58
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. (PMID: 25730767) Izumi K … Krantz ID (Nature genetics 2015) 3 4 58
- HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold. (PMID: 23251033) Chou S … Alber T (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
- The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription. (PMID: 22483617) Liu M … Zhou Q (Molecular cell 2012) 3 4 58
- The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith ER … Shilatifard A (Molecular cell 2011) 3 4 58
Products for AFF4 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for AFF4
- VectorBuilder custom plasmid, inducible vectors for AFF4
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 68 available AFF4 Antibodies ranked by validation data
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- Search GeneTex for Antibodies for AFF4
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- ViGene Biosciences adenoviral particle packaged cDNA for AFF4 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
- Search ViGene Biosciences for AFF4
- Santa Cruz Biotechnology (SCBT) Antibodies for AFF4
- Search Santa Cruz Biotechnology (SCBT) for AFF4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AFF4
- Horizon Cell Lines for AFF4
- genomics-online: cdna clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
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- genomics-online: gRNA clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
- genomics-online: primer clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
- genomics-online: shRNA clones - Search results for 108 available AFF4 gene related products
- Overview of 108 available AFF4 gene related products
Sources for AFF4 Gene
- (1) GeneCards
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- (92) COMPARTMENTS
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