CRYBG3

crystallin beta-gamma domain containing 3, the group of Beta-gamma crystallin domain containing

Basic information

Region (hg38): 3:97822010-97944984

Links

ENSG00000080200 ∙ NCBI:131544 ∙ OMIM:620146 ∙ HGNC:34427 ∙ Uniprot:Q68DQ2 ∙ 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 CRYBG3 gene.

• not provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRYBG3 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				5		5
missense				2	4	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	0	7	4

Variants in CRYBG3

This is a list of pathogenic ClinVar variants found in the CRYBG3 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-97873144-A-G			Likely benign (Aug 01, 2022)
3-97874506-C-T			Likely benign (Oct 01, 2022)
3-97875417-G-A			Benign (Jul 23, 2018)
3-97875489-C-T			Benign (Jul 23, 2018)
3-97875661-T-C			Likely benign (Jul 01, 2022)
3-97876178-C-A			Benign (Jul 23, 2018)
3-97876441-C-T			Likely benign (Oct 01, 2022)
3-97876535-G-A			Benign (Jul 23, 2018)
3-97878035-G-A			Likely benign (Nov 01, 2022)
3-97881206-A-G			Likely benign (Jul 23, 2018)
3-97886741-T-C			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRYBG3	protein_coding	protein_coding	ENST00000182096	19	67992

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000927	1.00	124739	0	55	124794	0.000220

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.468	489	519	0.942	0.0000252	6721
Missense in Polyphen		149	162.47	0.91711		2132
Synonymous	1.82	148	179	0.827	0.00000847	1865
Loss of Function	4.47	17	51.7	0.329	0.00000241	677

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000623	0.000619
Ashkenazi Jewish	0.00	0.00
East Asian	0.000279	0.000278
Finnish	0.00	0.00
European (Non-Finnish)	0.000251	0.000247
Middle Eastern	0.000279	0.000278
South Asian	0.000167	0.000163
Other	0.000344	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform vlAKAP: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA). {ECO:0000269|PubMed:25097019}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.400
• ghis: 0.462

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0750

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Crybg3

Gene ontology

• Biological process: biological_process
• Cellular component: protein-containing complex
• Molecular function: carbohydrate binding;protein kinase A binding