LGALS14

galectin 14, the group of Galectins

Basic information

Region (hg38): 19:39704481-39709444

Links

ENSG00000006659 ∙ NCBI:56891 ∙ OMIM:607260 ∙ HGNC:30054 ∙ Uniprot:Q8TCE9 ∙ 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 LGALS14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LGALS14 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	16	0	0

Variants in LGALS14

This is a list of pathogenic ClinVar variants found in the LGALS14 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-39705972-G-A		not specified	Uncertain significance (May 17, 2023)
19-39706627-G-C		not specified	Uncertain significance (Apr 26, 2023)
19-39706639-G-A		not specified	Uncertain significance (Dec 19, 2022)
19-39706658-C-T		not specified	Uncertain significance (May 17, 2023)
19-39707209-A-G		not specified	Uncertain significance (Oct 01, 2024)
19-39707237-C-T		not specified	Uncertain significance (Feb 27, 2023)
19-39707247-C-A		not specified	Uncertain significance (Aug 10, 2021)
19-39707285-G-A		not specified	Uncertain significance (Aug 01, 2024)
19-39707299-T-C		not specified	Uncertain significance (Aug 16, 2022)
19-39707321-A-G		not specified	Uncertain significance (Nov 25, 2024)
19-39707359-T-C		not specified	Uncertain significance (Dec 11, 2023)
19-39707372-G-A		not specified	Uncertain significance (Sep 20, 2023)
19-39707378-A-G		not specified	Uncertain significance (May 13, 2024)
19-39709215-C-T		not specified	Uncertain significance (Jun 16, 2024)
19-39709282-T-C		not specified	Uncertain significance (Dec 19, 2023)
19-39709299-C-T		not specified	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LGALS14	protein_coding	protein_coding	ENST00000360675	4	5139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000275	0.569	125642	0	10	125652	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0482	98	96.7	1.01	0.00000522	1100
Missense in Polyphen		29	23.877	1.2145		307
Synonymous	0.0849	36	36.7	0.982	0.00000201	314
Loss of Function	0.535	6	7.59	0.791	4.08e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000369	0.000369
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds beta-galactoside and lactose. Strong inducer of T- cell apoptosis. {ECO:0000269|PubMed:19497882}.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.809
• rvis_EVS: 1.15
• rvis_percentile_EVS: 92.43

Haploinsufficiency Scores

• pHI: 0.0760
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.185

Gene Damage Prediction

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

Gene ontology

• Biological process: apoptotic process;positive regulation of T cell apoptotic process
• Cellular component: nucleus
• Molecular function: protein binding;carbohydrate binding