RSPRY1 (ring finger and SPRY domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
16q13
LOCUSID
ALIAS
SEMDFA
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
263653412015Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.7
300630902018Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.0

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