BAALC

BAALC binder of MAP3K1 and KLF4, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 8:103140713-103230305

Links

ENSG00000164929 ∙ NCBI:79870 ∙ OMIM:606602 ∙ HGNC:14333 ∙ Uniprot:Q8WXS3 ∙ 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 BAALC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAALC 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in BAALC

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

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

Position	Type	Phenotype	Significance	ClinVar
8-103140923-A-T		not specified	Uncertain significance (Aug 22, 2023)
8-103140937-C-G		not specified	Uncertain significance (Feb 27, 2023)
8-103140951-C-G		not specified	Uncertain significance (Jun 18, 2021)
8-103140958-C-G		not specified	Uncertain significance (Mar 08, 2024)
8-103141001-C-T		not specified	Uncertain significance (Apr 23, 2024)
8-103141022-C-G		not specified	Uncertain significance (Dec 13, 2022)
8-103212970-C-T		not specified	Uncertain significance (Jun 07, 2023)
8-103212981-C-A		not specified	Uncertain significance (Nov 29, 2021)
8-103213000-C-T		not specified	Likely benign (Jun 10, 2024)
8-103213033-G-A		not specified	Uncertain significance (Jun 22, 2023)
8-103213038-A-G		not specified	Uncertain significance (Dec 03, 2021)
8-103227997-A-T		not specified	Uncertain significance (Dec 08, 2023)
8-103228059-T-C		not specified	Uncertain significance (Aug 08, 2023)
8-103228071-G-A		not specified	Uncertain significance (May 18, 2023)
8-103228089-G-A		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BAALC	protein_coding	protein_coding	ENST00000309982	3	89596

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00444	0.688	125699	0	9	125708	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.257	78	71.9	1.09	0.00000334	922
Missense in Polyphen		16	18.049	0.88648		255
Synonymous	0.579	23	26.8	0.858	0.00000128	281
Loss of Function	0.660	4	5.70	0.702	3.28e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000109	0.000109
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A. {ECO:0000250|UniProtKB:Q920K5}.

Recessive Scores

• pRec: 0.0608

Haploinsufficiency Scores

• pHI: 0.0236
• hipred: N
• hipred_score: 0.146
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.325

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Baalc

Gene ontology

• Cellular component: nucleus;cytoplasm;cytosol;postsynaptic density;cell junction;neuron projection;membrane raft;postsynaptic membrane