S100A14

S100 calcium binding protein A14, the group of S100 calcium binding proteins

Basic information

Region (hg38): 1:153614255-153616986

Links

ENSG00000189334 ∙ NCBI:57402 ∙ OMIM:607986 ∙ HGNC:18901 ∙ Uniprot:Q9HCY8 ∙ 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 S100A14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the S100A14 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						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in S100A14

This is a list of pathogenic ClinVar variants found in the S100A14 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-153614895-C-T		not specified	Uncertain significance (Jul 28, 2021)
1-153614937-A-C		not specified	Uncertain significance (Mar 02, 2023)
1-153615001-T-C		not specified	Uncertain significance (Feb 04, 2025)
1-153615273-G-A		not specified	Uncertain significance (Sep 30, 2024)
1-153615293-G-A		not specified	Uncertain significance (Nov 18, 2022)
1-153615307-C-G		not specified	Uncertain significance (Feb 28, 2023)
1-153615312-C-A		not specified	Uncertain significance (Jan 04, 2024)
1-153615312-C-T		not specified	Uncertain significance (Feb 22, 2023)
1-153615360-C-T		not specified	Uncertain significance (Aug 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
S100A14	protein_coding	protein_coding	ENST00000368702	3	2732

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00186	0.502	125708	0	6	125714	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.223	66	61.1	1.08	0.00000358	682
Missense in Polyphen		17	17.264	0.98471		210
Synonymous	0.132	24	24.8	0.966	0.00000143	202
Loss of Function	0.101	4	4.22	0.947	1.78e-7	51

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000869	0.0000869
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.00000887	0.00000879
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium. {ECO:0000269|PubMed:21559403, ECO:0000269|PubMed:22032898, ECO:0000269|PubMed:22451655}.
• Pathway: EGFR1 (Consensus)

Intolerance Scores

• loftool: 0.488
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• pHI: 0.176
• hipred: N
• hipred_score: 0.170
• ghis: 0.558

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.579

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: S100a14
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: apoptotic process;response to lipopolysaccharide;toll-like receptor 4 signaling pathway;defense response to bacterium;calcium ion homeostasis;positive regulation of granulocyte chemotaxis;positive regulation of monocyte chemotaxis
• Cellular component: cytosol;plasma membrane;nuclear body;cell junction;perinuclear region of cytoplasm;extracellular exosome
• Molecular function: calcium ion binding;protein binding;chemokine receptor binding