UBALD2

UBA like domain containing 2

Basic information

Region (hg38): 17:76265348-76271298

Previous symbols: [ "FAM100B" ]

Links

ENSG00000185262 ∙ NCBI:283991 ∙ ∙ HGNC:28438 ∙ Uniprot:Q8IYN6 ∙ 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 UBALD2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBALD2 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			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	2	0

Variants in UBALD2

This is a list of pathogenic ClinVar variants found in the UBALD2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-76265512-G-A		not specified	Uncertain significance (Jan 30, 2025)
17-76265518-A-G		not specified	Uncertain significance (Aug 28, 2024)
17-76265519-T-C		not specified	Uncertain significance (Mar 28, 2024)
17-76265586-G-T		not specified	Uncertain significance (Jan 15, 2025)
17-76265611-C-T		not specified	Uncertain significance (Nov 24, 2024)
17-76265920-C-T		not specified	Uncertain significance (Dec 30, 2023)
17-76270212-A-T		not specified	Uncertain significance (Apr 12, 2022)
17-76270267-G-A		not specified	Uncertain significance (Jun 30, 2023)
17-76270269-G-A		not specified	Likely benign (Jan 29, 2024)
17-76270330-C-G		not specified	Uncertain significance (Mar 06, 2025)
17-76270375-C-T		not specified	Uncertain significance (Jan 26, 2022)
17-76270422-C-T		not specified	Likely benign (Dec 27, 2022)
17-76270435-C-T		not specified	Uncertain significance (Feb 27, 2025)
17-76270457-G-C		not specified	Uncertain significance (Feb 20, 2025)
17-76270479-A-G		not specified	Uncertain significance (Feb 28, 2023)
17-76270493-C-A		not specified	Uncertain significance (Jan 21, 2025)
17-76270494-G-A		not specified	Uncertain significance (Nov 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBALD2	protein_coding	protein_coding	ENST00000327490	3	6093

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.368	0.587	121488	0	1	121489	0.00000412

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.72	43	88.6	0.485	0.00000504	1057
Missense in Polyphen		7	28.569	0.24502		332
Synonymous	-0.236	41	39.1	1.05	0.00000271	296
Loss of Function	1.58	1	4.71	0.212	2.03e-7	49

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000921	0.00000921
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.110

Haploinsufficiency Scores

• pHI: 0.318
• hipred: N
• hipred_score: 0.314
• ghis: 0.614

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ubald2