AKR7L

aldo-keto reductase family 7 like (gene/pseudogene)

Basic information

Region (hg38): 1:19265982-19274194

Links

ENSG00000211454 ∙ NCBI:246181 ∙ OMIM:608478 ∙ HGNC:24056 ∙ Uniprot:Q8NHP1 ∙ 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 AKR7L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR7L 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKR7L	polymorphic_pseudogene	protein_coding	ENST00000420396	4	8213

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000224	0.525	125716	0	28	125744	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.258	93	100	0.928	0.00000636	989
Missense in Polyphen		20	19.226	1.0403		222
Synonymous	0.0292	45	45.3	0.994	0.00000362	303
Loss of Function	0.432	6	7.26	0.827	3.11e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000793	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.000458	0.000457
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen (By similarity). {ECO:0000250}.
• Pathway: Biological oxidations;Metabolism;Aflatoxin activation and detoxification (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Biological process: xenobiotic metabolic process;oxidation-reduction process
• Cellular component: cytosol;extracellular exosome
• Molecular function: aldo-keto reductase (NADP) activity