AHRR

aryl hydrocarbon receptor repressor, the group of Basic helix-loop-helix proteins|PAS domain containing

Basic information

Region (hg38): 5:321714-438291

Previous symbols: [ "AHH", "AHHR" ]

Links

ENSG00000063438 ∙ NCBI:57491 ∙ OMIM:606517 ∙ HGNC:346 ∙ Uniprot:A9YTQ3 ∙ 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 AHRR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AHRR 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				6	1	7
missense			50	6	1	57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			3			3
Total	0	0	53	12	2

Variants in AHRR

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

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

Position	Type	Phenotype	Significance	ClinVar
5-353740-G-A		not specified	Uncertain significance (May 08, 2023)
5-353743-G-C		not specified	Uncertain significance (May 21, 2024)
5-353755-T-C		not specified	Uncertain significance (Jun 24, 2022)
5-353771-G-A		not specified	Uncertain significance (Dec 21, 2023)
5-353776-C-T		not specified	Uncertain significance (Apr 01, 2024)
5-353783-G-A		not specified	Uncertain significance (Oct 27, 2022)
5-353783-G-T		not specified	Uncertain significance (Jun 21, 2023)
5-353792-C-G		not specified	Uncertain significance (Jan 18, 2022)
5-353823-G-A			Likely benign (Mar 29, 2018)
5-353863-G-A		not specified	Uncertain significance (Mar 06, 2023)
5-376612-G-A		not specified	Uncertain significance (Sep 14, 2022)
5-376640-C-T		not specified	Uncertain significance (Jul 13, 2021)
5-376648-G-A		not specified	Uncertain significance (Jan 03, 2024)
5-376675-C-G		not specified	Uncertain significance (Mar 08, 2024)
5-376676-T-C		not specified	Uncertain significance (Mar 02, 2023)
5-376690-G-A		not specified	Uncertain significance (Oct 06, 2021)
5-413384-C-T		not specified	Likely benign (Jan 09, 2024)
5-413405-C-T		not specified	Uncertain significance (Dec 28, 2022)
5-413406-G-A			Likely benign (Aug 01, 2022)
5-422777-C-T		not specified	Uncertain significance (Jun 07, 2024)
5-422789-T-C		not specified	Uncertain significance (Oct 22, 2021)
5-422791-C-T			Benign (Jun 12, 2018)
5-422833-T-G		not specified	Uncertain significance (Nov 30, 2022)
5-423861-A-T		not specified	Uncertain significance (Mar 25, 2024)
5-423895-C-T		not specified	Uncertain significance (Jun 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AHRR	protein_coding	protein_coding	ENST00000316418	12	134116

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000181	0.995	124770	0	27	124797	0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.485	427	456	0.936	0.0000295	4579
Missense in Polyphen		116	141.32	0.82081		1595
Synonymous	-0.500	212	203	1.04	0.0000141	1509
Loss of Function	2.46	10	22.6	0.442	0.00000113	248

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000195	0.000195
Ashkenazi Jewish	0.000315	0.000298
East Asian	0.000223	0.000223
Finnish	0.0000478	0.0000464
European (Non-Finnish)	0.0000540	0.0000530
Middle Eastern	0.000223	0.000223
South Asian	0.000349	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site. {ECO:0000269|PubMed:17890447, ECO:0000269|PubMed:18172554}.
• Pathway: Aryl Hydrocarbon Receptor;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Aryl hydrocarbon receptor signalling;Phase I - Functionalization of compounds;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.164

Intolerance Scores

• loftool: 0.621
• rvis_EVS: 1
• rvis_percentile_EVS: 90.79

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.444
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ahrr
• Phenotype: homeostasis/metabolism phenotype; vision/eye phenotype; hematopoietic system phenotype; pigmentation phenotype; neoplasm; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hearing/vestibular/ear phenotype

Zebrafish Information Network

• Gene name: ahrrb
• Affected structure: regulation of transcription from RNA polymerase II promoter in response to stress
• Phenotype tag: abnormal
• Phenotype quality: disrupted

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;xenobiotic metabolic process;response to xenobiotic stimulus;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleoplasm;cytosol
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;protein dimerization activity