ABCB10

ATP binding cassette subfamily B member 10, the group of ATP binding cassette subfamily B

Basic information

Region (hg38): 1:229516582-229558707

Links

ENSG00000135776NCBI:23456OMIM:605454HGNC:41Uniprot:Q9NRK6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ABCB10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCB10 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
1
clinvar
1
clinvar
2
missense
57
clinvar
1
clinvar
58
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 57 1 3

Variants in ABCB10

This is a list of pathogenic ClinVar variants found in the ABCB10 region.

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

Position Type Phenotype Significance ClinVar
1-229518223-T-C not specified Uncertain significance (Sep 17, 2021)3119397
1-229518253-G-C not specified Uncertain significance (Feb 08, 2023)2467284
1-229518315-G-A not specified Uncertain significance (Nov 14, 2024)3531659
1-229518345-G-A not specified Uncertain significance (Mar 01, 2023)2473489
1-229518367-C-T not specified Uncertain significance (Sep 22, 2023)3119290
1-229521614-G-A not specified Uncertain significance (Sep 24, 2024)3531059
1-229525993-G-A not specified Uncertain significance (Dec 14, 2022)2334746
1-229526010-T-C not specified Uncertain significance (Aug 17, 2022)2392096
1-229526029-T-C not specified Uncertain significance (Dec 25, 2024)3862202
1-229527287-T-C not specified Uncertain significance (Sep 27, 2024)3531490
1-229527306-T-C not specified Uncertain significance (Jan 09, 2025)3861851
1-229527317-GAGGAA-G Benign (Jan 08, 2018)767760
1-229530290-C-T Likely benign (Mar 01, 2022)2640063
1-229530295-T-C not specified Uncertain significance (Oct 12, 2021)2356905
1-229530325-C-T not specified Uncertain significance (Nov 21, 2023)3119150
1-229530336-G-T not specified Uncertain significance (May 01, 2022)2286808
1-229530361-T-C not specified Uncertain significance (Feb 15, 2025)3861943
1-229530403-C-A not specified Uncertain significance (Jun 17, 2024)3289628
1-229531637-G-T Benign (Jan 08, 2018)732920
1-229531689-G-A not specified Uncertain significance (May 16, 2024)3289532
1-229531713-G-A not specified Uncertain significance (Oct 25, 2023)3119092
1-229539513-C-T not specified Uncertain significance (Dec 12, 2023)3119056
1-229539579-C-T not specified Uncertain significance (Jul 25, 2023)2613793
1-229540626-G-A not specified Uncertain significance (Jul 20, 2021)2322350
1-229540646-G-C not specified Uncertain significance (Feb 07, 2023)2462287

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ABCB10protein_codingprotein_codingENST00000344517 1342114
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.91e-80.9191256950531257480.000211
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.352723420.7940.00001984613
Missense in Polyphen83125.720.660191476
Synonymous-0.5021391321.060.000007471631
Loss of Function1.811625.90.6170.00000132332

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003910.000391
Ashkenazi Jewish0.000.00
East Asian0.0005440.000544
Finnish0.000.00
European (Non-Finnish)0.0002560.000255
Middle Eastern0.0005440.000544
South Asian0.0001310.000131
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May mediate critical mitochondrial transport functions related to heme biosynthesis. {ECO:0000250}.;
Pathway
ABC transporters - Homo sapiens (human);Transport of small molecules;ABC-family proteins mediated transport;Mitochondrial ABC transporters (Consensus)

Recessive Scores

pRec
0.143

Intolerance Scores

loftool
0.238
rvis_EVS
-0.13
rvis_percentile_EVS
43.91

Haploinsufficiency Scores

pHI
0.262
hipred
N
hipred_score
0.267
ghis
0.582

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.665

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Abcb10
Phenotype
liver/biliary system phenotype; embryo phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype;

Zebrafish Information Network

Gene name
abcb10
Affected structure
nucleate erythrocyte
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
mitochondrial transport;transmembrane transport
Cellular component
mitochondrial inner membrane;integral component of membrane;integral component of mitochondrial membrane
Molecular function
transporter activity;ATP binding;ATPase activity, coupled to transmembrane movement of substances;protein homodimerization activity