BACH1

BTB domain and CNC homolog 1, the group of BTB domain containing|Basic leucine zipper proteins

Basic information

Region (hg38): 21:29194070-29630751

Links

ENSG00000156273 ∙ NCBI:571 ∙ OMIM:602751 ∙ HGNC:935 ∙ Uniprot:O14867 ∙ 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 BACH1 gene.

• Inborn genetic diseases (35 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BACH1 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						0
missense			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	0

Variants in BACH1

This is a list of pathogenic ClinVar variants found in the BACH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-29321362-C-T		not specified	Uncertain significance (Feb 22, 2023)
21-29321383-G-A		not specified	Uncertain significance (Sep 25, 2023)
21-29321461-T-G		not specified	Uncertain significance (Feb 16, 2023)
21-29321470-G-A		not specified	Uncertain significance (May 05, 2023)
21-29321491-C-G		not specified	Uncertain significance (Dec 07, 2023)
21-29321501-C-G		not specified	Uncertain significance (Jan 03, 2024)
21-29326065-G-T		not specified	Uncertain significance (Apr 28, 2023)
21-29326091-G-C		not specified	Uncertain significance (Jan 29, 2024)
21-29326147-A-C		not specified	Uncertain significance (May 24, 2023)
21-29326292-A-C		not specified	Uncertain significance (Jan 17, 2024)
21-29326312-G-A		not specified	Likely benign (Jan 29, 2024)
21-29326393-A-G		not specified	Uncertain significance (Oct 22, 2021)
21-29326425-G-T		not specified	Uncertain significance (May 05, 2023)
21-29326437-C-G		not specified	Uncertain significance (Feb 03, 2022)
21-29326453-T-C		not specified	Uncertain significance (Apr 28, 2022)
21-29326632-T-G		BACH1-related disorder	Likely benign (Feb 16, 2022)
21-29326664-C-T		BACH1-related disorder	Likely benign (Mar 26, 2019)
21-29326677-G-A		not specified	Uncertain significance (Aug 02, 2021)
21-29326680-A-G		not specified	Uncertain significance (Jun 09, 2022)
21-29326705-A-T		not specified	Uncertain significance (Dec 22, 2023)
21-29326725-A-G		not specified	Uncertain significance (Dec 27, 2023)
21-29326764-T-C		BACH1-related disorder	Benign (Jun 18, 2019)
21-29326767-A-G		not specified	Uncertain significance (May 03, 2023)
21-29326816-A-G		not specified	Uncertain significance (Dec 03, 2021)
21-29326845-C-G		not specified	Uncertain significance (Jun 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BACH1	protein_coding	protein_coding	ENST00000399921	4	436680

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.571	0.429	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.561	354	385	0.920	0.0000208	4834
Missense in Polyphen		132	146.17	0.90304		1844
Synonymous	0.640	137	147	0.933	0.00000843	1394
Loss of Function	3.63	5	24.4	0.205	0.00000125	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000534	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional regulator that acts as repressor or activator. Binds, in vitro, to NF-E2 binding sites. Play important roles in coordinating transcription activation and repression by MAFK.
• Pathway: Integrated Cancer Pathway;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.766
• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.82

Haploinsufficiency Scores

• pHI: 0.797
• hipred: Y
• hipred_score: 0.722
• ghis: 0.601

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.569

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bach1
• 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); normal phenotype; muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: regulation of transcription involved in G1/S transition of mitotic cell cycle;regulation of transcription involved in G2/M transition of mitotic cell cycle;negative regulation of transcription by RNA polymerase II;DNA repair;regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;regulation of transcription from RNA polymerase II promoter in response to hypoxia
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: RNA polymerase II distal enhancer sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;heme binding