CLBA1

clathrin binding box of aftiphilin containing 1

Basic information

Region (hg38): 14:104985775-105010482

Previous symbols: [ "C14orf79" ]

Links

ENSG00000140104 ∙ NCBI:122616 ∙ ∙ HGNC:20126 ∙ Uniprot:Q96F83 ∙ 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 CLBA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLBA1 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in CLBA1

This is a list of pathogenic ClinVar variants found in the CLBA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-104986453-G-C		not specified	Uncertain significance (Oct 29, 2021)
14-104988988-A-G		not specified	Likely benign (Oct 12, 2021)
14-104989012-G-C		not specified	Uncertain significance (Sep 17, 2021)
14-104991508-T-G		not specified	Uncertain significance (Dec 16, 2023)
14-104991553-G-A		not specified	Uncertain significance (Jun 11, 2021)
14-104993020-A-T		not specified	Uncertain significance (Jul 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLBA1	protein_coding	protein_coding	ENST00000547315	5	24708

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.36e-12	0.0161	124752	0	39	124791	0.000156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.534	213	192	1.11	0.0000112	2115
Missense in Polyphen		36	31.304	1.15		409
Synonymous	0.225	72	74.5	0.967	0.00000464	651
Loss of Function	-0.562	16	13.8	1.16	7.27e-7	145

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000189	0.000189
Ashkenazi Jewish	0.00195	0.00189
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000540	0.0000530
Middle Eastern	0.00	0.00
South Asian	0.000327	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.16

Haploinsufficiency Scores

• pHI: 0.0391
• hipred: N
• hipred_score: 0.123
• ghis: 0.489

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Clba1

Gene ontology

• Biological process: intracellular transport
• Cellular component: cell;cytoplasm;AP-1 adaptor complex;trans-Golgi network membrane
• Molecular function: protein transporter activity;clathrin binding