Gene
SALL1
spalt like transcription factor 1
- HGNC 10524↗(opens in a new tab)
- Ensembl gene ENSG00000103449↗(opens in a new tab)
- NCBI Gene 6299↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q12.1
- Coordinates
- Chromosome 16: 51,135,982–51,151,270 (GRCh38)
- Exons
- 3 exons across 15.3 kb
- Protein
- 1,324 amino acids
- Also known as
- Hsal1, ZNF794
- Previous symbols
- TBS
- MANE Select transcript
- ENST00000251020.9NM_002968.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SALL1 yet. The test sequences your whole genome, so your data includes it all the same.
How SALL1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.1 kb of the gene's 15.3 kb; 3,975 of those bases code for the protein.
How a genome test reads SALL1
79
positions in SALL1 where ClinVar classes a change as pathogenic or likely pathogenic
78 of them (99%) fall in regions short reads find hard.
- Segmental duplications (78 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 15.3 kb of SALL1, introns included, not only the 5.1 kb of exons.
Traits linked to SALL1
The Human Phenotype Ontology lists these as features of the rare conditions SALL1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Extra thumb
- Finger-like thumb
- Abnormal feet structure
- Broad thumb
- Curvature of little finger
- Dropped arches
- Toe curvature
- 3-4 finger cutaneous syndactyly
Show 16 more traits
- Absent toe
- Absent/small 3rd toe
- Broad bone of big toe
- Finger bends toward pinky
- Fused toes
- Left and right leg differ in length or width
- Partial duplication of the thumb bones
- Talipes
- Webbed 4th-5th toes
- Webbed first and second toes
- Clinodactyly of the 5th toe
- Extra bone on end of second long bone of hand
- Fusion of the long bones of the feet
- Short long bone of foot
- Webbed 2nd and 3rd toes
- Webbed 3rd-4th toes
Abnormality of the digestive system
- Abnormal connection between rectum and vagina
- Absent anus
- Rectoperineal fistula
- Anteriorly placed anus
- Constipation
- Abnormal connection between trachea and esophagus
- Loss of bowel control
- Absence or narrowing of first part of small bowel
Show 3 more traits
Abnormality of the ear
- Small ears
- Abnormally shaped ears
- Sensorineural hearing impairment
- Hearing impairment
- Overfolded ears
- Abnormal tragus morphology
- Lop ear
- Large ears
Show 3 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SALL1 gene: spalt like transcription factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sall1
Dante Labs. SALL1 gene: spalt like transcription factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sall1
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