AKIRIN1

akirin 1

Basic information

Region (hg38): 1:38991276-39006059

Previous symbols: [ "C1orf108" ]

Links

ENSG00000174574 ∙ NCBI:79647 ∙ OMIM:615164 ∙ HGNC:25744 ∙ Uniprot:Q9H9L7 ∙ 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 AKIRIN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKIRIN1 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			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1		1
Total	0	0	12	1	0

Variants in AKIRIN1

This is a list of pathogenic ClinVar variants found in the AKIRIN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-38991427-C-T		not specified	Uncertain significance (Dec 13, 2022)
1-38991477-G-A		not specified	Uncertain significance (Jul 26, 2022)
1-38991480-C-T		not specified	Uncertain significance (Nov 22, 2022)
1-38991483-A-T		not specified	Uncertain significance (Apr 23, 2024)
1-38991496-G-C		not specified	Uncertain significance (Aug 16, 2021)
1-38991514-C-T		not specified	Uncertain significance (Jan 24, 2024)
1-38991538-C-A		not specified	Uncertain significance (Oct 13, 2023)
1-38991552-C-G		not specified	Uncertain significance (Dec 07, 2021)
1-38998218-T-A		not specified	Uncertain significance (Dec 16, 2023)
1-38998246-A-G		not specified	Uncertain significance (May 12, 2024)
1-38998278-C-G		not specified	Uncertain significance (Sep 17, 2021)
1-38998278-C-T		not specified	Uncertain significance (Jun 24, 2022)
1-39001068-G-A		not specified	Uncertain significance (Jul 25, 2023)
1-39001114-C-G		AKIRIN1-related disorder	Benign (Oct 21, 2019)
1-39003387-T-G		not specified	Uncertain significance (Mar 21, 2022)
1-39003428-G-A		AKIRIN1-related disorder	Likely benign (Aug 05, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKIRIN1	protein_coding	protein_coding	ENST00000432648	5	14837

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.793	0.205	123998	0	2	124000	0.00000806

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.501	71	83.9	0.846	0.00000455	1218
Missense in Polyphen		18	30.868	0.58313		446
Synonymous	-0.454	32	28.9	1.11	0.00000139	375
Loss of Function	2.57	1	9.57	0.104	4.93e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as signal transducer for MSTN during skeletal muscle regeneration and myogenesis. May regulates chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway. {ECO:0000250|UniProtKB:Q99LF1}.

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• pHI: 0.437
• hipred: Y
• hipred_score: 0.522
• ghis: 0.643

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.189

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akirin1
• Phenotype: normal phenotype

Gene ontology

• Biological process: positive regulation of lamellipodium assembly;positive regulation of macrophage chemotaxis;myoblast migration involved in skeletal muscle regeneration;positive regulation of myoblast differentiation;negative regulation of skeletal muscle satellite cell proliferation;negative regulation of satellite cell differentiation
• Cellular component: nucleus;nucleoplasm;nuclear membrane
• Molecular function: protein binding