SHFL

shiftless antiviral inhibitor of ribosomal frameshifting

Basic information

Region (hg38): 19:10086121-10093252

Previous symbols: [ "C19orf66" ]

Links

ENSG00000130813 ∙ NCBI:55337 ∙ OMIM:616808 ∙ HGNC:25649 ∙ Uniprot:Q9NUL5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SHFL gene.

• Inborn genetic diseases (3 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SHFL gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	3	1	0

Variants in SHFL

This is a list of pathogenic ClinVar variants found in the SHFL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-10089906-G-A			Likely benign (Oct 01, 2022)
19-10091332-C-A		not specified	Uncertain significance (Aug 02, 2021)
19-10092270-G-A		not specified	Uncertain significance (Oct 12, 2021)
19-10092639-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-10092686-C-T		not specified	Uncertain significance (Jan 18, 2022)
19-10092711-C-T		not specified	Uncertain significance (Aug 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SHFL	protein_coding	protein_coding	ENST00000253110	8	7131

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.137	0.859	124620	0	8	124628	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.14	109	192	0.566	0.0000127	1897
Missense in Polyphen		24	59.045	0.40647		614
Synonymous	0.287	67	70.1	0.956	0.00000416	550
Loss of Function	2.52	4	14.3	0.280	6.77e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000568	0.0000556
Finnish	0.0000470	0.0000464
European (Non-Finnish)	0.0000544	0.0000531
Middle Eastern	0.0000568	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cellular mRNA-binding proteins and viral RNA. Can also limit the replication of hepatitis C virus (HCV), West Nile virus (WNV), Chikungunya virus (CHIKV), herpes simplex virus type 1 (HHV-1) and human adenovirus (PubMed:26735137). {ECO:0000269|PubMed:26735137}.

Intolerance Scores

• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.617
• ghis: 0.621

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: A230050P20Rik