ABTB1

ankyrin repeat and BTB domain containing 1, the group of Ankyrin repeat domain containing|BTB domain containing

Basic information

Region (hg38): 3:127672935-127680926

Links

ENSG00000114626 ∙ NCBI:80325 ∙ OMIM:608308 ∙ HGNC:18275 ∙ Uniprot:Q969K4 ∙ 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 ABTB1 gene.

• not_specified (94 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABTB1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000172027.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			89	5		94
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	89	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABTB1	protein_coding	protein_coding	ENST00000232744	12	7991

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000213	0.995	124664	2	1081	125747	0.00432

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.345	298	315	0.945	0.0000220	3073
Missense in Polyphen		73	96.009	0.76035		977
Synonymous	-1.00	153	138	1.11	0.0000103	961
Loss of Function	2.51	12	25.7	0.467	0.00000143	268

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00414	0.00402
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00819	0.00793
European (Non-Finnish)	0.00634	0.00607
Middle Eastern	0.000109	0.000109
South Asian	0.00314	0.00304
Other	0.00303	0.00294

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes. {ECO:0000269|PubMed:10891360, ECO:0000269|PubMed:11494141}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.476
• rvis_EVS: -0.95
• rvis_percentile_EVS: 9.27

Haploinsufficiency Scores

• pHI: 0.162
• hipred: N
• hipred_score: 0.492
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.564

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abtb1

Gene ontology

• Biological process: translational elongation
• Cellular component: ubiquitin ligase complex;nucleolus;cytosol;plasma membrane
• Molecular function: translation elongation factor activity;protein binding