IAH1

isoamyl acetate hydrolyzing esterase 1 (putative)

Basic information

Region (hg38): 2:9473657-9496543

Links

ENSG00000134330 ∙ NCBI:285148 ∙ ∙ HGNC:27696 ∙ Uniprot:Q2TAA2 ∙ 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 IAH1 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IAH1 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			1			1
Total	0	0	11	0	0

Variants in IAH1

This is a list of pathogenic ClinVar variants found in the IAH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-9474570-G-A		not specified	Uncertain significance (Dec 27, 2023)
2-9474571-C-T		not specified	Uncertain significance (Sep 20, 2023)
2-9475999-C-A		not specified	Uncertain significance (Aug 15, 2023)
2-9476000-A-C		not specified	Uncertain significance (Feb 27, 2023)
2-9478241-C-T		not specified	Uncertain significance (Jan 25, 2023)
2-9478263-C-T		not specified	Uncertain significance (Dec 21, 2022)
2-9481287-T-A		not specified	Uncertain significance (Sep 28, 2022)
2-9481324-G-A		not specified	Uncertain significance (Nov 17, 2022)
2-9481397-C-T		not specified	Uncertain significance (Sep 07, 2022)
2-9481411-T-C		not specified	Uncertain significance (Sep 29, 2023)
2-9484480-C-A		not specified	Uncertain significance (Dec 08, 2023)
2-9484504-G-C		not specified	Uncertain significance (Dec 15, 2023)
2-9488172-G-T		not specified	Uncertain significance (Sep 23, 2023)
2-9488177-C-T		not specified	Uncertain significance (Jul 12, 2023)
2-9488231-G-A		not specified	Uncertain significance (Apr 19, 2023)
2-9488247-C-T		not specified	Uncertain significance (Dec 18, 2023)
2-9488294-C-T		not specified	Uncertain significance (Aug 15, 2023)
2-9488307-T-C		not specified	Uncertain significance (Jul 15, 2021)
2-9489887-T-C			Benign (Nov 10, 2018)
2-9490102-C-T		Inflammatory skin and bowel disease, neonatal, 1 • not specified	Benign (Nov 12, 2023)
2-9490115-AT-A		Inflammatory skin and bowel disease, neonatal, 1 • not specified	Benign (Nov 12, 2023)
2-9490180-GCACTCTGTTTCTTTGCTGTCAA-G		Inborn genetic diseases	Uncertain significance (May 10, 2018)
2-9490185-CTG-C		Inflammatory skin and bowel disease, neonatal, 1	Uncertain significance (Oct 22, 2021)
2-9490185-C-CTGT		Inflammatory skin and bowel disease, neonatal, 1	Uncertain significance (Feb 20, 2020)
2-9490200-C-G		Inflammatory skin and bowel disease, neonatal, 1	Uncertain significance (Feb 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IAH1	protein_coding	protein_coding	ENST00000497473	6	22886

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00344	0.956	124759	0	38	124797	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.292	124	134	0.929	0.00000699	1596
Missense in Polyphen		38	45.123	0.84215		551
Synonymous	0.278	51	53.6	0.952	0.00000298	486
Loss of Function	1.79	6	13.0	0.463	6.18e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000704	0.000704
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.000223	0.000223
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000975	0.0000971
Middle Eastern	0.000223	0.000223
South Asian	0.000266	0.000261
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable lipase. {ECO:0000250}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.666
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.292
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.438

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iah1
• Phenotype: homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); limbs/digits/tail phenotype; skeleton phenotype

Gene ontology

• Biological process: lipid catabolic process
• Molecular function: hydrolase activity, acting on ester bonds