SERPINF1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SERPINF1 (HGNC:8824) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- serpin family F member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PEDF
- Alias symbols
- EPC-1, PIG35
- %HI
- 32.9(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.06(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:1665354-1680859 NCBI Ensembl UCSC GRCh38/hg38: chr17:1762060-1777565 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002615.7 ENST00000254722.9 (Read more about MANE Select)
- Function
- Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity. {ECO:0000269|PubMed:7592790, ECO:0000269|PubMed:8226833}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27154
ClinGen Curation ID:
CCID:007828
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- osteogenesis imperfecta type 6 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)