ALKBH7

alkB homolog 7, the group of Alkylation repair homologs

Basic information

Region (hg38): 19:6372794-6375250

Previous symbols: [ "SPATA11" ]

Links

ENSG00000125652 ∙ NCBI:84266 ∙ OMIM:613305 ∙ HGNC:21306 ∙ Uniprot:Q9BT30 ∙ 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 ALKBH7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALKBH7 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in ALKBH7

This is a list of pathogenic ClinVar variants found in the ALKBH7 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-6372831-C-T		not specified	Uncertain significance (Oct 20, 2023)
19-6372852-C-A		not specified	Uncertain significance (Aug 27, 2024)
19-6372864-C-A		not specified	Uncertain significance (Jan 31, 2024)
19-6372871-G-T		not specified	Uncertain significance (Jun 03, 2022)
19-6372879-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-6372998-C-T		not specified	Uncertain significance (Feb 24, 2025)
19-6374224-A-G		not specified	Uncertain significance (Jan 17, 2025)
19-6374227-G-A		not specified	Uncertain significance (Dec 06, 2022)
19-6374237-G-A		not specified	Uncertain significance (Dec 01, 2022)
19-6374258-C-A		not specified	Uncertain significance (May 26, 2024)
19-6374263-C-G		not specified	Uncertain significance (Nov 27, 2024)
19-6374279-C-T		not specified	Uncertain significance (Oct 20, 2021)
19-6374296-G-C		not specified	Uncertain significance (Nov 07, 2022)
19-6374318-T-A		not specified	Uncertain significance (Oct 25, 2024)
19-6374338-G-A		not specified	Uncertain significance (Jan 20, 2025)
19-6374339-C-A		not specified	Uncertain significance (Jan 20, 2025)
19-6374366-A-T		not specified	Uncertain significance (Feb 28, 2023)
19-6374483-G-A		not specified	Uncertain significance (Dec 07, 2024)
19-6374490-T-C		not specified	Uncertain significance (Jun 22, 2023)
19-6374495-C-G		not specified	Uncertain significance (Jun 04, 2024)
19-6374517-G-A		not specified	Uncertain significance (Aug 04, 2023)
19-6374568-C-G		not specified	Uncertain significance (Mar 02, 2023)
19-6374568-C-T		not specified	Uncertain significance (Mar 11, 2025)
19-6374580-A-G		not specified	Uncertain significance (May 02, 2024)
19-6374818-G-A		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALKBH7	protein_coding	protein_coding	ENST00000245812	4	2599

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000172	0.256	125678	0	31	125709	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.126	147	151	0.971	0.0000103	1366
Missense in Polyphen		60	61.412	0.97701		557
Synonymous	0.673	61	68.1	0.896	0.00000454	506
Loss of Function	0.117	9	9.39	0.959	4.92e-7	87

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000175	0.000175
Ashkenazi Jewish	0.000200	0.000199
East Asian	0.0000551	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000196	0.000193
Middle Eastern	0.0000551	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as protein hydroxylase; can catalyze auto- hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity). {ECO:0000250|UniProtKB:Q9D6Z0, ECO:0000269|PubMed:23666923, ECO:0000269|PubMed:25122757}.

Recessive Scores

• pRec: 0.0963

Haploinsufficiency Scores

• pHI: 0.0729
• hipred: N
• hipred_score: 0.239
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.757

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Alkbh7

Gene ontology

• Biological process: fatty acid metabolic process;cellular response to DNA damage stimulus;regulation of lipid storage;oxidation-reduction process;regulation of mitochondrial membrane permeability involved in programmed necrotic cell death
• Cellular component: mitochondrial matrix
• Molecular function: metal ion binding;dioxygenase activity