FSTL5

follistatin like 5, the group of I-set domain containing|EF-hand domain containing

Basic information

Region (hg38): 4:161383896-162164004

Links

ENSG00000168843 ∙ NCBI:56884 ∙ OMIM:620128 ∙ HGNC:21386 ∙ Uniprot:Q8N475 ∙ 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 FSTL5 gene.

• Inborn genetic diseases (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSTL5 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in FSTL5

This is a list of pathogenic ClinVar variants found in the FSTL5 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-161385752-C-T		not specified	Uncertain significance (Dec 19, 2023)
4-161385860-T-A		not specified	Uncertain significance (Feb 06, 2023)
4-161385900-G-C		not specified	Uncertain significance (Mar 11, 2022)
4-161386033-T-C		not specified	Uncertain significance (Jun 16, 2023)
4-161386177-T-C		not specified	Uncertain significance (Dec 19, 2023)
4-161386198-T-C		not specified	Uncertain significance (Dec 06, 2023)
4-161386257-C-T		not specified	Uncertain significance (May 04, 2022)
4-161386313-A-G		not specified	Uncertain significance (Dec 27, 2023)
4-161386357-T-C		not specified	Uncertain significance (Jan 16, 2024)
4-161386389-C-G		not specified	Uncertain significance (May 17, 2023)
4-161386405-A-G		not specified	Uncertain significance (Nov 30, 2022)
4-161455029-T-G		not specified	Uncertain significance (Dec 27, 2023)
4-161481169-C-G		not specified	Uncertain significance (Jan 27, 2022)
4-161500059-A-C		not specified	Uncertain significance (Sep 27, 2021)
4-161500074-G-A		not specified	Uncertain significance (Mar 31, 2023)
4-161500098-T-C		not specified	Uncertain significance (Jan 03, 2024)
4-161538178-C-T		not specified	Uncertain significance (Oct 25, 2022)
4-161538264-T-C		not specified	Uncertain significance (Dec 07, 2021)
4-161542612-C-A		not specified	Uncertain significance (Mar 13, 2023)
4-161587470-T-C		not specified	Uncertain significance (Nov 05, 2021)
4-161587477-C-G		not specified	Uncertain significance (Dec 28, 2023)
4-161587550-T-C		not specified	Uncertain significance (Dec 27, 2023)
4-161587568-C-T		not specified	Uncertain significance (Jun 28, 2022)
4-161656368-T-C		not specified	Uncertain significance (Mar 16, 2022)
4-161656423-C-A		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FSTL5	protein_coding	protein_coding	ENST00000306100	15	780139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000140	1.00	125713	0	33	125746	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0470	426	429	0.994	0.0000202	5587
Missense in Polyphen		227	226.68	1.0014		3030
Synonymous	-0.249	161	157	1.03	0.00000787	1551
Loss of Function	3.42	17	40.5	0.420	0.00000208	510

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000309	0.000307
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.000218	0.000217
South Asian	0.000166	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0975

Intolerance Scores

• loftool: 0.852
• rvis_EVS: 0.54
• rvis_percentile_EVS: 81.07

Haploinsufficiency Scores

• pHI: 0.185
• hipred: N
• hipred_score: 0.492
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.216

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fstl5

Gene ontology

• Cellular component: extracellular region
• Molecular function: calcium ion binding;protein binding