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.

not_specified (42 variants)

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. These statistics are base on transcript: NM_000032306.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			42 clinvar			42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	0	0

Loading clinvar variants...

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
Phenotype

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