Gene
ZSWIM6
zinc finger SWIM-type containing 6
- HGNC 29316↗(opens in a new tab)
- Ensembl gene ENSG00000130449↗(opens in a new tab)
- NCBI Gene 57688↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q12.1
- Coordinates
- Chromosome 5: 61,332,258–61,546,172 (GRCh38)
- Exons
- 14 exons across 213.9 kb
- Protein
- 1,215 amino acids
- Also known as
- KIAA1577
- MANE Select transcript
- ENST00000252744.6NM_020928.2
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/zswim6.json"
page <- fromJSON(url)
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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads ZSWIM6 yet. The test sequences your whole genome, so your data includes it all the same.
How ZSWIM6 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 5.5 kb of the gene's 213.9 kb; 3,648 of those bases code for the protein.
Sequencing ZSWIM6
4
positions in ZSWIM6 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 213.9 kb of ZSWIM6, introns included, not only the 5.5 kb of exons.
Traits linked to ZSWIM6
The Human Phenotype Ontology lists these as features of the rare conditions ZSWIM6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Corners of eye widely separated
- Midline defect of the nose
- Midline facial cleft
- Vertical clivus
- Wide nasal bridge
- Abnormality of the area between the eyebrows
- Broad head shape
- Broad nasal tip
Show 30 more traits
- Central cleft palate
- Cleft nasal bridge
- Cleft nasal tip
- Encephalocele
- Thick nasal alae
- Wide fontanelles
- Big sella turcica
- Carp-like mouth
- Central cleft upper lip
- Coarse facial features
- Downward slanting of the opening between the eyelids
- Holes in parietal bones
- Progressively abnormally small cranium
- Big calvaria
- Cleft palate
- Early eruption of teeth
- Prominent brow
- Prominent forehead
- Submucous cleft soft palate
- Thick eyebrow
- Wide mouth
- Broad columella
- Cleft upper lip
- Depressed nasal bridge
- Downturned corners of mouth
- Drooping lower lip
- Highly arched eyebrow
- Open mouth
- Short nose
- Widely spaced teeth
Abnormality of the nervous system
- Aplasia of the olfactory bulb
- Global developmental delay
- Happy demeanor
- Intellectual disability
- Motor delay
- Unsteady walk
- Absent speech development
- Agenesis of corpus callosum
Show 22 more traits
- Meningocele
- Ataxia
- Autism spectrum disorder
- Choroid plexus cyst
- Hypoplasia of the olfactory bulb
- More active than typical
- Ventriculomegaly
- Absent septum pellucidum
- Cavum septum pellucidum
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased reflex response
- Epilepsy
- Periventricular nodular heterotopia
- Pica
- Retrocerebellar cyst
- Stereotypical body rocking
- Tic disorder
- Tongue thrusting
- Underdevelopment of part of brain called corpus callosum
- Delayed ability to walk
- Gray matter heterotopia
- Wide based walk
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 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). ZSWIM6 gene: zinc finger SWIM-type containing 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/zswim6
Dante Labs. ZSWIM6 gene: zinc finger SWIM-type containing 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/zswim6
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