SLFN14

schlafen family member 14, the group of Schlafen family

Basic information

Region (hg38): 17:35543985-35560819

Links

ENSG00000236320 ∙ NCBI:342618 ∙ OMIM:614958 ∙ HGNC:32689 ∙ Uniprot:P0C7P3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• platelet-type bleeding disorder 20 (Strong), mode of inheritance: AD
• platelet-type bleeding disorder 20 (Supportive), mode of inheritance: AD
• platelet-type bleeding disorder 20 (Moderate), mode of inheritance: AD
• platelet-type bleeding disorder 20 (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bleeding disorder, platelet-type, 20	AR	Hematologic	Individuals have increased bleeding tendency, and awareness may allow preventive measures and early management of bleeding complications	Hematologic	26280575; 26769223

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLFN14 gene.

• Inborn_genetic_diseases (110 variants)
• Platelet-type_bleeding_disorder_20 (27 variants)
• not_provided (23 variants)
• SLFN14-related_disorder (16 variants)
• Thrombocytopenia (7 variants)
• Abnormal_bleeding (7 variants)
• not_specified (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLFN14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001129820.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5	5	10
missense	1	3	118	14	1	137
nonsense			7			7
start loss						0
frameshift	1		5			6
splice donor/acceptor (+/-2bp)			1			1
Total	2	3	131	19	6

Highest pathogenic variant AF is 0.000005156274

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLFN14	protein_coding	protein_coding	ENST00000415846	4	9974

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.51e-9	0.929	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.43	318	465	0.684	0.0000225	6013
Missense in Polyphen		89	137.81	0.64581		1859
Synonymous	2.20	134	170	0.786	0.00000838	1732
Loss of Function	1.90	18	29.1	0.619	0.00000152	403

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protein SLFN14: Shows no ribosome-associated and endoribonuclease activities. {ECO:0000269|PubMed:25996083}.

Intolerance Scores

• rvis_EVS: 2.71
• rvis_percentile_EVS: 98.93

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.310

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slfn14

Gene ontology

• Biological process: mRNA catabolic process;rRNA catabolic process;platelet maturation;cellular response to magnesium ion;cellular response to manganese ion;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: nucleus;cytoplasm
• Molecular function: endoribonuclease activity;ATP binding;ribosome binding