AIRIM

AFG2 interacting ribosome maturation factor

Basic information

Region (hg38): 1:37681570-37692249

Previous symbols: [ "C1orf109" ]

Links

ENSG00000116922 ∙ NCBI:54955 ∙ OMIM:614799 ∙ HGNC:26039 ∙ Uniprot:Q9NX04 ∙ 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 AIRIM gene.

Variants pathogenicity by type

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

Variants in AIRIM

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

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

Position	Type	Phenotype	Significance	ClinVar
1-37689816-T-C		not specified	Uncertain significance (Jun 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AIRIM	protein_coding	protein_coding	ENST00000358011	4	10673

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000147	0.410	125620	0	127	125747	0.000505

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.274	104	112	0.927	0.00000578	1304
Missense in Polyphen		24	29.187	0.8223		382
Synonymous	1.05	39	48.2	0.808	0.00000254	409
Loss of Function	0.566	10	12.1	0.825	8.33e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000624	0.000624
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000786	0.000783
Middle Eastern	0.000163	0.000163
South Asian	0.000441	0.000425
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May promote cancer cell proliferation by controlling the G1 to S phase transition. {ECO:0000269|PubMed:22548824}.

Intolerance Scores

• loftool: 0.550
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.0831
• hipred: N
• hipred_score: 0.208
• ghis: 0.616

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 9930104L06Rik

Zebrafish Information Network

• Gene name: c19h1orf109
• Affected structure: pharyngeal arch 3-7
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding