TYROBP |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TYROBP (HGNC:12449) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transmembrane immune signaling adaptor TYROBP
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PLOSL
- Alias symbols
- DAP12, PLO-SL, KARAP
- %HI
- 59.61(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.28(Read more about gnomAD LOEUF score)
- Cytoband
- 19q13.12
- Genomic Coordinates
-
GRCh37/hg19: chr19:36395305-36399197 NCBI Ensembl UCSC GRCh38/hg38: chr19:35904403-35908295 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003332.4 ENST00000262629.9 (Read more about MANE Select)
- Function
- Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (PubMed:9490415, PubMed:9655483, PubMed:10604985). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (PubMed:9490415). Also has an inhibitory role in... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25685
ClinGen Curation ID:
CCID:008073
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)