Gene
DYM
dymeclin
- HGNC 21317↗(opens in a new tab)
- Ensembl gene ENSG00000141627↗(opens in a new tab)
- NCBI Gene 54808↗(opens in a new tab)
Summary
- Cytogenetic location
- 18q21.1
- Coordinates
- Chromosome 18: 49,036,387–49,460,645 (GRCh38)
- Exons
- 18 exons across 424.3 kb
- Protein
- 724 amino acids
- Also known as
- FLJ20071, DMC, SMC
- MANE Select transcript
- ENST00000675505.1NM_001353214.3
- 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/dym.json"
page <- fromJSON(url)
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How DYM 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 10.1 kb of the gene's 424.3 kb; 2,175 of those bases code for the protein.
Sequencing DYM
1Low
How hard DYM is to sequence with short reads, out of 100Each bar is the share of DYM's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.3%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.10%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
22
positions in DYM 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 424.3 kb of DYM, introns included, not only the 10.1 kb of exons.
Traits linked to DYM
The Human Phenotype Ontology lists these as features of the rare conditions DYM can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Atlantoaxial instability
- Barrel-shaped chest
- Beaking of vertebral bodies
- Excessive inward curvature of lower spine
- Flaring of lower rib cage
- Flattened vertebrae
- Hunched back
- Iliac crest serration
Show 33 more traits
- Limitation of joint mobility
- Prominent sternum
- Wide pubic symphysis
- Disproportionate short-trunked short stature
- Pigeon chest
- Shield chest
- Spondyloepimetaphyseal dysplasia
- Abnormal development of end part of bone
- Abnormal shape of pelvis bone
- Abnormal skeletal development
- Abnormality of the hip bone
- Abnormality of the vertebral column
- Abnormality of the vertebral endplates
- Broad ribs
- Horizontal inferior border of scapula
- Hypoplasia of the odontoid process
- Hypoplastic iliac wing
- Scoliosis
- Short long bone
- Shorter than typical length between neck and abdomen
- Small wings of the pelvic girdle
- Decreased lung function due to weak breathing muscles
- Difficulty in standing
- Frequent falls
- Glenoid fossa hypoplasia
- Spastic tetraparesis
- Enlargement of the costochondral junction
- Flat glenoid fossa
- Irregular end part of long bone
- Narrow greater sciatic notch
- Permanent flexion of the finger or toe
- Small shoulder blade
- Thoracic kyphosis
Abnormality of limbs
- Broad wide portion of long bone
- Disproportionately short upper portion of limb
- Irregular wide portion of a long bone
- Outward bow-leggedness
- Short fingers or toes
- Short long bone of foot
- Shortened long bone of hand
- Small carpal bones
Show 28 more traits
- Knock knees
- Rhizomelic arm shortening
- Abnormal head of thigh bone
- Broad femoral neck
- Curvature of little finger
- Flat acetabular roof
- Hypoplastic acetabulae
- Limb muscle weakness
- Metaphyseal dysplasia
- Small innermost thighbone end part
- Abnormality of the ankle
- Bowed shankbone
- Bowed thighbone
- Club feet
- Coxa vara
- Dropped arches
- Limited elbow extension
- Limited knee straightening
- Prominent heel bone
- Wide wrist bones
- Broad foot
- Broad palm
- Cone-shaped end part of finger bones
- Delayed maturation of the head of the thigh bone
- Multicentric femoral head ossification
- Multicentric ossification of proximal femoral epiphyses
- Multicentric ossification of proximal humeral epiphyses
- Short finger bones
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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- 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.). DYM gene: dymeclin. Retrieved 17 October 2026, from https://dantelabs.com/genes/dym
Dante Labs. DYM gene: dymeclin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dym
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