KRBA1

KRAB-A domain containing 1

Basic information

Region (hg38): 7:149714781-149734575

Links

ENSG00000133619 ∙ NCBI:84626 ∙ ∙ HGNC:22228 ∙ Uniprot:A5PL33 ∙ 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 KRBA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRBA1 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			55	5		60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	5	0

Variants in KRBA1

This is a list of pathogenic ClinVar variants found in the KRBA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-149719643-G-A		not specified	Uncertain significance (Oct 12, 2022)
7-149719651-T-C		not specified	Uncertain significance (May 08, 2023)
7-149719658-C-T		not specified	Uncertain significance (Dec 20, 2022)
7-149720047-C-G		not specified	Uncertain significance (Dec 20, 2023)
7-149720116-G-C			Likely benign (Nov 01, 2022)
7-149720858-C-T		not specified	Uncertain significance (Mar 11, 2022)
7-149720880-T-C		not specified	Uncertain significance (Aug 12, 2021)
7-149720887-G-C		not specified	Uncertain significance (Jan 26, 2023)
7-149720924-G-A		not specified	Likely benign (Aug 15, 2023)
7-149720944-C-A		not specified	Uncertain significance (Dec 13, 2021)
7-149721380-C-T		not specified	Uncertain significance (Aug 12, 2021)
7-149721467-C-T		not specified	Uncertain significance (Mar 28, 2024)
7-149721534-C-G		not specified	Uncertain significance (Jan 17, 2024)
7-149722430-G-A		not specified	Uncertain significance (Dec 06, 2021)
7-149722460-C-T		not specified	Uncertain significance (May 06, 2024)
7-149722461-C-T		not specified	Uncertain significance (May 06, 2024)
7-149722475-G-A		not specified	Uncertain significance (Dec 20, 2021)
7-149722542-C-T		not specified	Uncertain significance (Dec 01, 2022)
7-149722813-G-A		not specified	Uncertain significance (Jan 04, 2022)
7-149722824-T-C			not provided (-)
7-149722842-G-A		not specified	Uncertain significance (Nov 03, 2022)
7-149722843-T-C		not specified	Uncertain significance (Jan 16, 2024)
7-149722854-C-T		not specified	Uncertain significance (Oct 02, 2023)
7-149722902-G-A			Likely benign (Jan 01, 2023)
7-149722909-C-G		not specified	Uncertain significance (Jun 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRBA1	protein_coding	protein_coding	ENST00000255992	17	19793

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.23e-16	0.118	124590	0	57	124647	0.000229

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.562	537	575	0.934	0.0000334	6392
Missense in Polyphen		284	300.48	0.94517		3553
Synonymous	-0.0178	251	251	1.00	0.0000162	2242
Loss of Function	1.03	27	33.4	0.807	0.00000168	398

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000851	0.000831
Ashkenazi Jewish	0.00	0.00
East Asian	0.000403	0.000389
Finnish	0.0000468	0.0000464
European (Non-Finnish)	0.000196	0.000186
Middle Eastern	0.000403	0.000389
South Asian	0.000278	0.000261
Other	0.000379	0.000330

dbNSFP

Source: dbNSFP

• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Haploinsufficiency Scores

• pHI: 0.0779
• hipred: N
• hipred_score: 0.123
• ghis: 0.412

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.312

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krba1

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function