RSPRY1 (ring finger and SPRY domain containing 1)

2014-11-01  

Identity

HGNC
RSPRY1
LOCATION
16q13
LOCUSID
89970
ALIAS
SEMDFA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 89970
MIM: 616585
HGNC: 29420
Ensembl: ENSG00000159579

Variants:

dbSNP: 89970
ClinVar: 89970
TCGA: ENSG00000159579
COSMIC: RSPRY1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159579ENST00000394420Q96DX4
ENSG00000159579ENST00000394420A0A024R6U0
ENSG00000159579ENST00000537866Q96DX4
ENSG00000159579ENST00000537866A0A024R6U0
ENSG00000159579ENST00000561641H3BPL2
ENSG00000159579ENST00000562439H3BSC7
ENSG00000159579ENST00000562959H3BQG6
ENSG00000159579ENST00000564435H3BSC7
ENSG00000159579ENST00000568505H3BQQ7

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385621222024Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.1
385621222024Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.1
300630902018Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.2
300630902018Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.2
263653412015Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.11
263653412015Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.11

Citation

Dessen P

RSPRY1 (ring finger and SPRY domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72915/rspry1-(ring-finger-and-spry-domain-containing-1)