ANKFN1

ankyrin repeat and fibronectin type III domain containing 1, the group of Ankyrin repeat domain containing|Fibronectin type III domain containing

Basic information

Region (hg38): 17:55882300-56517016

Links

ENSG00000153930 ∙ NCBI:162282 ∙ ∙ HGNC:26766 ∙ Uniprot:Q8N957 ∙ 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 ANKFN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKFN1 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			39	1		40
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	40	1	0

Variants in ANKFN1

This is a list of pathogenic ClinVar variants found in the ANKFN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-56153513-G-C		not specified	Uncertain significance (Aug 02, 2021)
17-56326225-G-A		not specified	Uncertain significance (Mar 20, 2024)
17-56326233-A-T		not specified	Uncertain significance (Nov 18, 2022)
17-56326259-G-A		not specified	Uncertain significance (Oct 05, 2023)
17-56326309-C-A		not specified	Uncertain significance (Dec 06, 2023)
17-56350816-A-G		not specified	Uncertain significance (Feb 27, 2023)
17-56350827-C-T		not specified	Uncertain significance (Feb 15, 2023)
17-56350832-T-G		not specified	Uncertain significance (Nov 18, 2023)
17-56350834-C-T		not specified	Uncertain significance (May 04, 2023)
17-56350855-C-T		not specified	Uncertain significance (Jan 31, 2024)
17-56350860-C-T		not specified	Uncertain significance (Sep 17, 2021)
17-56350882-A-C		not specified	Uncertain significance (May 15, 2024)
17-56350906-C-A		not specified	Uncertain significance (Feb 05, 2024)
17-56350935-A-G		not specified	Uncertain significance (Jan 26, 2022)
17-56350950-C-T		not specified	Uncertain significance (Apr 26, 2023)
17-56353934-C-G		not specified	Uncertain significance (Oct 04, 2022)
17-56353971-G-A		not specified	Uncertain significance (Aug 17, 2021)
17-56372681-A-G		not specified	Uncertain significance (Jul 12, 2022)
17-56372703-A-G		not specified	Uncertain significance (Mar 07, 2023)
17-56372707-G-T		not specified	Uncertain significance (May 09, 2023)
17-56372739-A-C		not specified	Uncertain significance (Oct 20, 2023)
17-56374604-C-T		not specified	Uncertain significance (Sep 13, 2023)
17-56374627-T-A		not specified	Uncertain significance (Sep 23, 2023)
17-56440383-A-G		not specified	Uncertain significance (May 28, 2024)
17-56440393-C-T		not specified	Uncertain significance (Nov 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKFN1	protein_coding	protein_coding	ENST00000318698	17	400702

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.09e-10	0.998	125658	0	90	125748	0.000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.559	383	415	0.923	0.0000215	5023
Missense in Polyphen		95	108.46	0.8759		1271
Synonymous	0.196	149	152	0.980	0.00000821	1426
Loss of Function	2.87	23	43.4	0.530	0.00000217	490

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000628	0.000627
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000438	0.000435
Finnish	0.000238	0.000231
European (Non-Finnish)	0.000472	0.000466
Middle Eastern	0.000438	0.000435
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.793
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.83

Haploinsufficiency Scores

• pHI: 0.451
• hipred: Y
• hipred_score: 0.540
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0933

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankfn1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hearing/vestibular/ear phenotype; growth/size/body region phenotype