ALKBH6

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			27 clinvar	3 clinvar		30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	28	4	0	32

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 71 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032878.5	RefSeq	NP_116267.4	6	MANE Select
ENST00000378875.8	Ensembl	ENSP00000368152.4	6	MANE Select
NM_001297701.2	RefSeq	NP_001284630.1	6	Standard
NM_001386055.1	RefSeq	NP_001372984.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

oxidation-reduction process

Molecular Function

protein binding
metal ion binding
dioxygenase activity

Cellular Component

nucleus
nucleoplasm
cytoplasm
focal adhesion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000378875
Coding exons: 7
Length: 5120
Individuals with no LoFs: 125730
Homozygous LoFs: 1
Heterozygous LoFs: 10
Defined: 125741
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.16	85	121	0.704	0.00000704	1653
Missense (PolyPhen)		23	48.308	0.47611		686
Synonymous	1.40	38	50.6	0.750	0.00000327	588
Loss of Function	2.40	4	13.5	0.296	7.27e-7	151

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000063	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000057	0.000054	rare
Finnish	0.000051	0.000046	rare
European (Non-Finnish)	0.000026	0.000026	rare
South Asian	0.00010	0.000098	rare
Other	0.00034	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron. {ECO:0000250}.;

Recessive Scores

pRec: 0.106

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.231

Gene Damage Prediction

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