FABP9

fatty acid binding protein 9, the group of Fatty acid binding protein family

Basic information

Region (hg38): 8:81458253-81461579

Links

ENSG00000205186 ∙ NCBI:646480 ∙ ∙ HGNC:3563 ∙ Uniprot:Q0Z7S8 ∙ 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 FABP9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP9 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			12	1	2	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	2

Variants in FABP9

This is a list of pathogenic ClinVar variants found in the FABP9 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-81458621-A-G		not specified	Uncertain significance (Oct 07, 2024)
8-81458636-A-G		not specified	Uncertain significance (Jun 26, 2023)
8-81458636-A-T		not specified	Uncertain significance (Feb 17, 2025)
8-81458681-C-G		not specified	Uncertain significance (Dec 15, 2022)
8-81458697-T-C		not specified	Likely benign (Jun 29, 2023)
8-81458701-G-C		not specified	Uncertain significance (Mar 01, 2024)
8-81459191-T-C		not specified	Uncertain significance (Mar 29, 2023)
8-81459256-A-G		not specified	Uncertain significance (Apr 09, 2024)
8-81459261-C-T		not specified	Uncertain significance (Feb 27, 2025)
8-81459262-A-G		not specified	Uncertain significance (Sep 16, 2021)
8-81459274-T-C		not specified	Uncertain significance (Jul 12, 2023)
8-81459283-A-G		not specified	Uncertain significance (May 26, 2024)
8-81459295-G-A			Benign (Feb 26, 2018)
8-81459323-C-T		not specified	Uncertain significance (Jan 27, 2022)
8-81461501-G-A		not specified	Uncertain significance (Nov 08, 2022)
8-81461506-C-G		not specified	Uncertain significance (Mar 03, 2025)
8-81461519-A-G			Benign (Feb 26, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP9	protein_coding	protein_coding	ENST00000379071	4	3239

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.75e-9	0.0211	125662	0	17	125679	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00896	70	70.2	0.997	0.00000353	872
Missense in Polyphen		17	17.652	0.96304		234
Synonymous	-0.453	27	24.2	1.12	0.00000135	224
Loss of Function	-1.69	10	5.66	1.77	2.37e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000580	0.0000580
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000468	0.0000462
European (Non-Finnish)	0.000118	0.000114
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of lipids;Metabolism;Triglyceride catabolism;Triglyceride metabolism (Consensus)

Recessive Scores

• pRec: 0.105

Haploinsufficiency Scores

• pHI: 0.0939
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.657

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fabp9
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: acrosome assembly;triglyceride catabolic process
• Cellular component: acrosomal vesicle;cytosol
• Molecular function: lipid binding