FADS6

fatty acid desaturase 6, the group of Fatty acid desaturases

Basic information

Region (hg38): 17:74877302-74893781

Links

ENSG00000172782 ∙ NCBI:283985 ∙ ∙ HGNC:30459 ∙ Uniprot:Q8N9I5 ∙ 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 FADS6 gene.

• not_specified (59 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FADS6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178128.6. 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						0
missense			54	5		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FADS6	protein_coding	protein_coding	ENST00000310226	6	16281

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.15e-9	0.0524	124566	1	126	124693	0.000509

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.295	196	208	0.943	0.0000125	2228
Missense in Polyphen		74	80.556	0.91861		947
Synonymous	0.911	78	88.9	0.877	0.00000537	728
Loss of Function	-0.348	13	11.7	1.11	4.99e-7	144

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00102	0.000922
Ashkenazi Jewish	0.00	0.00
East Asian	0.00495	0.00491
Finnish	0.00	0.00
European (Non-Finnish)	0.000156	0.000150
Middle Eastern	0.00495	0.00491
South Asian	0.000147	0.000131
Other	0.000167	0.000165

dbNSFP

Source: dbNSFP

• Pathway: oleate biosynthesis (Consensus)

Intolerance Scores

• loftool: 0.595
• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.91

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.300
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.135

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fads6

Gene ontology

• Biological process: fatty acid biosynthetic process;oxidation-reduction process
• Cellular component: integral component of membrane
• Molecular function: oxidoreductase activity