ZSWIM6 (zinc finger SWIM-type containing 6)

2014-11-01  

Identity

HGNC
ZSWIM6
LOCATION
5q12.1
LOCUSID
57688
ALIAS
AFND,NEDMAGA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57688
MIM: 615951
HGNC: 29316
Ensembl: ENSG00000130449

Variants:

dbSNP: 57688
ClinVar: 57688
TCGA: ENSG00000130449
COSMIC: ZSWIM6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130449ENST00000252744Q9HCJ5

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
359708612022Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations.0
359708612022Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations.0
291987222017A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.17
291987222017A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.17
267068542016Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.15
267068542016Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.15
251052282014Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.29
251052282014Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.29

Citation

Dessen P

ZSWIM6 (zinc finger SWIM-type containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76509/zswim6-(zinc-finger-swim-type-containing-6)