AIG1

androgen induced 1

Basic information

Region (hg38): 6:143060496-143341058

Links

ENSG00000146416 ∙ NCBI:51390 ∙ OMIM:608514 ∙ HGNC:21607 ∙ Uniprot:Q9NVV5 ∙ 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 AIG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIG1 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in AIG1

This is a list of pathogenic ClinVar variants found in the AIG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-143060932-C-T		not specified	Uncertain significance (Jun 27, 2022)
6-143060944-C-A		not specified	Uncertain significance (Dec 27, 2023)
6-143060962-A-G		not specified	Uncertain significance (Aug 14, 2024)
6-143061019-C-T		not specified	Uncertain significance (Dec 15, 2022)
6-143136896-G-A		not specified	Uncertain significance (Aug 05, 2024)
6-143136903-T-G		not specified	Uncertain significance (Aug 12, 2024)
6-143136970-T-G		not specified	Uncertain significance (Apr 04, 2024)
6-143165133-T-C		not specified	Uncertain significance (Feb 06, 2023)
6-143165137-C-T		not specified	Uncertain significance (Jun 07, 2023)
6-143284153-C-T		not specified	Uncertain significance (Dec 02, 2022)
6-143284156-A-G		not specified	Uncertain significance (Nov 09, 2021)
6-143284170-A-G		not specified	Uncertain significance (Apr 15, 2024)
6-143284220-A-G		not specified	Uncertain significance (Aug 17, 2021)
6-143333301-G-A		not specified	Uncertain significance (Oct 04, 2022)
6-143333338-T-C		not specified	Uncertain significance (Mar 28, 2023)
6-143333376-A-G		not specified	Uncertain significance (May 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AIG1	protein_coding	protein_coding	ENST00000357847	6	279809

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.62e-7	0.357	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.222	120	127	0.945	0.00000614	1558
Missense in Polyphen		33	41.65	0.79232		496
Synonymous	1.21	39	49.9	0.782	0.00000272	451
Loss of Function	0.549	11	13.1	0.837	6.18e-7	145

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000179	0.000179
Ashkenazi Jewish	0.00	0.00
East Asian	0.000240	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000970	0.0000967
Middle Eastern	0.000240	0.000217
South Asian	0.000304	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in androgen-regulated growth of hair follicles.

Recessive Scores

• pRec: 0.0838

Intolerance Scores

• loftool: 0.872
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.294
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.635

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aig1

Gene ontology

• Biological process: long-chain fatty acid catabolic process
• Cellular component: membrane;integral component of membrane
• Molecular function: protein binding;hydrolase activity