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This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha ... See more...
Aliases for SALL3 Gene
Aliases for SALL3 Gene
External Ids for SALL3 Gene
- HGNC: 10527
- Entrez Gene: 27164
- Ensembl: ENSG00000256463
- OMIM: 605079
- UniProtKB: Q9BXA9
Previous GeneCards Identifiers for SALL3 Gene
- GC18U990052
- GC18P076766
- GC18P076475
- GC18P074839
- GC18P074841
- GC18P073383
Summaries for SALL3 Gene
-
This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]
GeneCards Summary for SALL3 Gene
SALL3 (Spalt Like Transcription Factor 3) is a Protein Coding gene. Diseases associated with SALL3 include Chromosome 18Q Deletion Syndrome and Ivic Syndrome. An important paralog of this gene is SALL1.
UniProtKB/Swiss-Prot Summary for SALL3 Gene
-
Probable transcription factor.
Additional gene information for SALL3 Gene
- HGNC(10527)
- Entrez Gene(27164)
- Ensembl(ENSG00000256463)
- OMIM(605079)
- UniProtKB(Q9BXA9)
- Open Targets Platform(ENSG00000256463)
- Monarch Initiative
- Search for SALL3 at DataMed
- Search for SALL3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SALL3 Gene
Genomics for SALL3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SALL3 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH18J078978 | Promoter/Enhancer | 1.6 | UCNEbase EPDnew Ensembl ENCODE | 600.7 | +1.3 | 1326 | 6.4 | TEAD4 POLR2A EZH2 ZBTB20 YY1 ZNF335 ZNF398 TAF1 NANOG HLF | LINC01896 SALL3 HSALNG0122726 ATP9B | |
| GH18J078814 | Enhancer | 0.5 | FANTOM5 Ensembl | 4.7 | -165.6 | -165594 | 0.6 | BHLHE40 | SALL3 RF00017-2709 HSALNG0122715 | |
| GH18J078977 | Promoter/Enhancer | 0.9 | EPDnew Ensembl ENCODE | 0.7 | -2.2 | -2234 | 0.3 | EZH2 | LINC01896 SALL3 RF00994-452 | |
| GH18J078984 | Promoter/Enhancer | 0.9 | Ensembl ENCODE | 0.7 | +4.9 | 4934 | 0.8 | CTCF FOXA1 RFX1 RAD21 POLR2A EZH2 FOXA2 SMC3 SIN3A ZBTB33 | SALL3 HSALNG0122726 ATP9B | |
| GH18J078975 | Enhancer | 0.9 | UCNEbase FANTOM5 Ensembl | 0.4 | -5.9 | -5939 | 1.9 | POLR2A EZH2 ETS1 POU5F1 | LINC01896 SALL3 RF00994-452 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SALL3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SALL3
- Top Transcription factor binding sites by QIAGEN in the SALL3 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Evi-1
- FOXL1
- POU3F2
- POU3F2 (N-Oct-5a)
Genomic Locations for SALL3 Gene
Genomic Locations for SALL3 Gene
- chr18:78,980,275-79,002,677
- (GRCh38/hg38)
- Size:
- 22,403 bases
- Orientation:
- Plus strand
- chr18:76,740,275-76,762,677
- (GRCh37/hg19)
- Size:
- 22,403 bases
- Orientation:
- Plus strand
Genomic View for SALL3 Gene
Genes around SALL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q23 by HGNC
- 18q23 by Entrez Gene
- 18q23 by Ensembl
SALL3 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 SALL3 Gene
Proteins for SALL3 Gene
-
Protein details for SALL3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BXA9-SALL3_HUMAN
- Recommended name:
- Sal-like protein 3
- Protein Accession:
- Q9BXA9
- Q9UGH1
Protein attributes for SALL3 Gene
- Size:
- 1300 amino acids
- Molecular mass:
- 135346 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- [Isoform 1]: Lacks two zinc finger domains. Major isoform with isoform 2.
- [Isoform 2]: Lacks two zinc finger domains. Major isoform with isoform 1.
Protein Expression for SALL3 Gene
Post-translational modifications for SALL3 Gene
Other Protein References for SALL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SALL3
- Novus Biologicals Antibodies for SALL3
- Invitrogen Antibodies for SALL3 (AFLGC-SALL3)
- antibodies-online: Show 6 available SALL3 Antibodies ranked by validation data
- Compare Top SALL3 Antibodies
-
Quality Products:
-
Santa Cruz Biotechnology (SCBT) Antibodies for SALL3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SALL3
- Origene Custom Protein Services for SALL3
- Novus Biologicals proteins for SALL3
No data available for DME Specific Peptides for SALL3 Gene
Domains & Families for SALL3 Gene
Gene Families for SALL3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SALL3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SALL3 Gene
- GenScript: Design optimal peptide antigens:
-
- SALL3 protein (A9JR48_HUMAN)
- Zinc finger protein SALL3 (SALL3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BXA9- Family:
-
- Belongs to the sal C2H2-type zinc-finger protein family.
Function for SALL3 Gene
Molecular function for SALL3 Gene
- UniProtKB/Swiss-Prot Function:
- Probable transcription factor.
- GENATLAS Biochemistry:
- spalt (sal)-like,Drosophila SAL like gene 3,expressed in fetal brain and in several adult tissues,haploinsufficency in the 18q deletion syndrome and may be contributing to the phenotype
Phenotypes From GWAS Catalog for SALL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for SALL3 Gene
- MGI mutant phenotypes for SALL3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SALL3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Increased ionizing radiation sensitivity
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Decreased viability after Maraba virus infection
- Decreased viability in pancreas lineage
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Polylobed nuclei
- Increased caspase activity
Animal Models for SALL3 Gene
- MGI Knock Outs for SALL3:
-
- Sall3 Sall3<tm1Apm>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SALL3 - Select products 50% OFF >
- * SALL3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SALL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SALL3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SALL3
miRNA for SALL3 Gene
- miRTarBase miRNAs that target SALL3
-
- mmu-miR-301b-3p (MIRT008074)
- mmu-miR-17-5p (MIRT010139)
- mmu-miR-340-5p (MIRT010580)
- mmu-miR-19b-3p (MIRT012532)
- mmu-miR-124-3p (MIRT015970)
- hsa-miR-615-3p (MIRT040159)
- hsa-miR-17-5p (MIRT242654)
- hsa-miR-20a-5p (MIRT242657)
- hsa-miR-93-5p (MIRT242658)
- hsa-miR-106a-5p (MIRT242659)
- hsa-miR-130a-3p (MIRT242660)
- hsa-miR-106b-5p (MIRT242661)
- hsa-miR-301a-3p (MIRT242662)
- hsa-miR-130b-3p (MIRT242663)
- hsa-miR-20b-5p (MIRT242665)
- hsa-miR-519c-3p (MIRT242666)
- hsa-miR-526b-3p (MIRT242667)
- hsa-miR-519b-3p (MIRT242668)
- hsa-miR-519d-3p (MIRT242669)
- hsa-miR-519a-3p (MIRT242670)
- hsa-miR-454-3p (MIRT242671)
- hsa-miR-301b-3p (MIRT242672)
- hsa-miR-548t-5p (MIRT242673)
- hsa-miR-4295 (MIRT242674)
- hsa-miR-3666 (MIRT242675)
- hsa-miR-548az-5p (MIRT242676)
- hsa-let-7a-5p (MIRT252326)
- hsa-let-7b-5p (MIRT252327)
- hsa-let-7c-5p (MIRT252328)
- hsa-let-7d-5p (MIRT252329)
- hsa-let-7e-5p (MIRT252330)
- hsa-let-7f-5p (MIRT252331)
- hsa-miR-98-5p (MIRT252332)
- hsa-miR-196a-5p (MIRT252333)
- hsa-let-7g-5p (MIRT252334)
- hsa-let-7i-5p (MIRT252335)
- hsa-miR-196b-5p (MIRT252336)
- hsa-miR-1252-3p (MIRT252337)
- hsa-miR-3662 (MIRT252338)
- hsa-miR-4458 (MIRT252340)
- hsa-miR-4500 (MIRT252341)
- hsa-miR-548n (MIRT291294)
- hsa-miR-450b-5p (MIRT534527)
- hsa-miR-2113 (MIRT542684)
- hsa-miR-218-5p (MIRT542685)
- hsa-miR-8068 (MIRT542686)
- hsa-miR-202-3p (MIRT542687)
- hsa-miR-5000-5p (MIRT542688)
- hsa-miR-8084 (MIRT546592)
- hsa-miR-4668-5p (MIRT622367)
- hsa-miR-556-3p (MIRT622368)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SALL3
- Browse OriGene Inhibitory RNA Products For SALL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SALL3
Clone Products
- Applied Biological Materials (abm): Clones for SALL3 - Select products 50% OFF >
- * SALL3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SALL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SALL3
Cell Line Products
-
Horizon Cell Lines for SALL3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SALL3 Gene
Localization for SALL3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SALL3 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SALL3 Gene
Pathways & Interactions for SALL3 Gene
Interacting Proteins for SALL3 Gene
GPS-Prot Interaction Network for SALL3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | IBA | 21873635 |
| GO:0021891 | olfactory bulb interneuron development | IEA | -- |
| GO:0035136 | forelimb morphogenesis | IEA | -- |
| GO:0035137 | hindlimb morphogenesis | IEA | -- |
| GO:0045879 | negative regulation of smoothened signaling pathway | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SALL3 Gene
Transcripts for SALL3 Gene
mRNA/cDNA for SALL3 Gene
- 1 REFSEQ mRNAs :
- 4 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000536229 3997 nts (view in UCSC)
- ENST00000537592 6555 nts (view in UCSC)
- ENST00000572928 150 nts (view in UCSC)
- ENST00000573324 838 nts (view in UCSC)
- ENST00000575389 3996 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SALL3 - Select products 50% OFF >
- * SALL3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SALL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SALL3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SALL3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SALL3
- Browse OriGene Inhibitory RNA Products For SALL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SALL3
Clone Products
- Applied Biological Materials (abm): Clones for SALL3 - Select products 50% OFF >
- * SALL3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SALL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SALL3
Relevant External Links for SALL3 Gene
- GeneLoc Exon Structure for
- SALL3
Expression for SALL3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Horizontal Cells Inner Nuclear Layer
- Mature S Cone Cells Outer Nuclear Layer
- Immature Horizontal Cells Inner Nuclear Layer
-
Neurons
- Mature Horizontal Cells Inner Nuclear Layer
- Mature S Cone Cells Outer Nuclear Layer
- Immature Horizontal Cells Inner Nuclear Layer
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Oligodendrocyte Precursor Cells Forebrain White Matter
- Endothelial Cells Blood Brain Barrier
- Inner Cell Mass (Early Embryonic Tissues)
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Neural Tube (Nervous System)
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
-
Limb (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
-
Bone (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
mRNA differential expression in normal tissues according to GTEx for SALL3 Gene
This gene is overexpressed in Vagina (x6.1), Brain - Spinal cord (cervical c-1) (x5.5), Brain - Caudate (basal ganglia) (x4.4), Brain - Amygdala (x4.2), and Brain - Nucleus accumbens (basal ganglia) (x4.1).
This gene is overexpressed in Saliva (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SALL3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SALL3
SOURCE GeneReport for Unigene cluster for SALL3 Gene:
Hs.700557mRNA Expression by UniProt/SwissProt for SALL3 Gene:
Q9BXA9-SALL3_HUMAN
Tissue specificity:
Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).
Primer Products
-
OriGene qPCR primer pairs for SALL3
Gene Expression Assay Products
No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SALL3 Gene
Orthologs for SALL3 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SALL3 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SALL3 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SALL3 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | SALL3 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sall3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Sall3 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SALL3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SALL3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SALL3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sall3 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | sal1-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC560775 30 |
|
||
| sall3a 31 |
|
OneToMany | |||
| sall3b 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | salr 31 |
|
ManyToMany | |
| salm 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | sem-4 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FZF1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for SALL3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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 Vase (Ciona intestinalis)
- 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)
Evolution for SALL3 Gene
- ENSEMBL:
- Gene Tree for SALL3 (if available)
- TreeFam:
- Gene Tree for SALL3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SALL3: view image
Paralogs for SALL3 Gene
Paralogs for SALL3 Gene
(33) SIMAP similar genes for SALL3 Gene using alignment to 3 proteins:
- SALL3_HUMAN
- A9JR48_HUMAN
- I3L3L8_HUMAN
Pseudogenes.org Pseudogenes for SALL3 Gene
Variants for SALL3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SALL3 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 746821 | Benign: not provided | 78,993,059(+) | C/T | SYNONYMOUS_VARIANT | |
| 754090 | Likely Benign: not provided | 78,992,546(+) | G/A | SYNONYMOUS_VARIANT | |
| 777279 | Benign: not provided | 78,994,226(+) | G/A | SYNONYMOUS_VARIANT | |
| rs760494400 | Likely Benign: Anophthalmia - microphthalmia | 78,994,245(+) | G/A | MISSENSE_VARIANT | |
| VAR_035552 | A colorectal cancer sample | p.Arg143His |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv564n67 | CNV | gain | 20364138 |
| dgv565n67 | CNV | gain | 20364138 |
| dgv6099n54 | CNV | gain | 21841781 |
| dgv6100n54 | CNV | loss | 21841781 |
| dgv6101n54 | CNV | gain | 21841781 |
| dgv6102n54 | CNV | gain+loss | 21841781 |
| dgv6103n54 | CNV | loss | 21841781 |
| dgv6104n54 | CNV | gain+loss | 21841781 |
| esv2666555 | CNV | deletion | 23128226 |
| esv2717497 | CNV | deletion | 23290073 |
| esv29012 | CNV | loss | 19812545 |
| esv3643277 | CNV | loss | 21293372 |
| esv3643278 | CNV | gain | 21293372 |
| nsv1065902 | CNV | gain | 25217958 |
| nsv1071874 | CNV | deletion | 25765185 |
| nsv1133432 | CNV | deletion | 24896259 |
| nsv1141945 | CNV | deletion | 24896259 |
| nsv1143887 | CNV | deletion | 24896259 |
| nsv2377 | CNV | insertion | 18451855 |
| nsv458313 | CNV | loss | 19166990 |
| nsv577793 | CNV | loss | 21841781 |
| nsv577794 | CNV | gain | 21841781 |
| nsv577795 | CNV | loss | 21841781 |
| nsv577796 | CNV | loss | 21841781 |
| nsv577799 | CNV | gain+loss | 21841781 |
| nsv577800 | CNV | loss | 21841781 |
| nsv577821 | CNV | loss | 21841781 |
| nsv828333 | CNV | loss | 20364138 |
| nsv828338 | CNV | gain | 20364138 |
| nsv828342 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.15;
69.47% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SALL3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SALL3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SALL3 Gene
Disorders for SALL3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chromosome 18q deletion syndrome |
|
|
| ivic syndrome |
|
|
| ureteral benign neoplasm |
|
|
| duane-radial ray syndrome |
|
|
| townes-brocks syndrome |
|
|
Search SALL3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SALL3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SALL3 Gene
Publications for SALL3 Gene
- SALL3, a new member of the human spalt-like gene family, maps to 18q23. (PMID: 10610715) Kohlhase J … Engel W (Genomics 1999) 2 3 4
- Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
- Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility. (PMID: 18668548) Julià A … Marsal S (Arthritis and rheumatism 2008) 3 41
- SALL3 expression balance underlies lineage biases in human induced pluripotent stem cell differentiation. (PMID: 31092818) Kuroda T … Sato Y (Nature communications 2019) 3
- [Correlation between Methylation of SALL3 and Cervical Cancer]. (PMID: 31699190) Zhao J … Yang XF (Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2019) 3
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