ABCB10
Basic information
Region (hg38): 1:229516582-229558707
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 2 | |||||
missense | 57 | 58 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 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) | ||
1-229518253-G-C | not specified | Uncertain significance (Feb 08, 2023) | ||
1-229518315-G-A | not specified | Uncertain significance (Nov 14, 2024) | ||
1-229518345-G-A | not specified | Uncertain significance (Mar 01, 2023) | ||
1-229518367-C-T | not specified | Uncertain significance (Sep 22, 2023) | ||
1-229521614-G-A | not specified | Uncertain significance (Sep 24, 2024) | ||
1-229525993-G-A | not specified | Uncertain significance (Dec 14, 2022) | ||
1-229526010-T-C | not specified | Uncertain significance (Aug 17, 2022) | ||
1-229526029-T-C | not specified | Uncertain significance (Dec 25, 2024) | ||
1-229527287-T-C | not specified | Uncertain significance (Sep 27, 2024) | ||
1-229527306-T-C | not specified | Uncertain significance (Jan 09, 2025) | ||
1-229527317-GAGGAA-G | Benign (Jan 08, 2018) | |||
1-229530290-C-T | Likely benign (Mar 01, 2022) | |||
1-229530295-T-C | not specified | Uncertain significance (Oct 12, 2021) | ||
1-229530325-C-T | not specified | Uncertain significance (Nov 21, 2023) | ||
1-229530336-G-T | not specified | Uncertain significance (May 01, 2022) | ||
1-229530361-T-C | not specified | Uncertain significance (Feb 15, 2025) | ||
1-229530403-C-A | not specified | Uncertain significance (Jun 17, 2024) | ||
1-229531637-G-T | Benign (Jan 08, 2018) | |||
1-229531689-G-A | not specified | Uncertain significance (May 16, 2024) | ||
1-229531713-G-A | not specified | Uncertain significance (Oct 25, 2023) | ||
1-229539513-C-T | not specified | Uncertain significance (Dec 12, 2023) | ||
1-229539579-C-T | not specified | Uncertain significance (Jul 25, 2023) | ||
1-229540626-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
1-229540646-G-C | not specified | Uncertain significance (Feb 07, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ABCB10 | protein_coding | protein_coding | ENST00000344517 | 13 | 42114 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.91e-8 | 0.919 | 125695 | 0 | 53 | 125748 | 0.000211 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.35 | 272 | 342 | 0.794 | 0.0000198 | 4613 |
Missense in Polyphen | 83 | 125.72 | 0.66019 | 1476 | ||
Synonymous | -0.502 | 139 | 132 | 1.06 | 0.00000747 | 1631 |
Loss of Function | 1.81 | 16 | 25.9 | 0.617 | 0.00000132 | 332 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000391 | 0.000391 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000544 | 0.000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000256 | 0.000255 |
Middle Eastern | 0.000544 | 0.000544 |
South Asian | 0.000131 | 0.000131 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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