FAM229B

family with sequence similarity 229 member B

Basic information

Region (hg38): 6:112087591-112102790

Previous symbols: [ "C6orf225" ]

Links

ENSG00000203778 ∙ NCBI:619208 ∙ ∙ HGNC:33858 ∙ Uniprot:Q4G0N7 ∙ 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 FAM229B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM229B 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in FAM229B

This is a list of pathogenic ClinVar variants found in the FAM229B region.

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

Position	Type	Phenotype	Significance	ClinVar
6-112099360-G-C		not specified	Uncertain significance (May 30, 2023)
6-112099373-T-G		not specified	Uncertain significance (Dec 15, 2022)
6-112099378-C-T		not specified	Uncertain significance (Oct 11, 2024)
6-112100702-T-C		not specified	Uncertain significance (Aug 05, 2024)
6-112100715-T-A		not specified	Uncertain significance (Apr 20, 2023)
6-112100716-G-A		not specified	Uncertain significance (Dec 16, 2023)
6-112100726-C-G		not specified	Uncertain significance (Sep 25, 2023)
6-112100741-C-T		not specified	Likely benign (Feb 16, 2023)
6-112100775-G-A		not specified	Uncertain significance (Aug 31, 2022)
6-112100777-A-G		not specified	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM229B	protein_coding	protein_coding	ENST00000368656	2	15192

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.571	0.387	125688	0	10	125698	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.179	41	44.4	0.924	0.00000225	513
Missense in Polyphen		12	13.115	0.91497		165
Synonymous	0.743	12	15.7	0.762	8.27e-7	162
Loss of Function	1.49	0	2.59	0.00	1.08e-7	35

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000490
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000489	0.000490
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.77
• rvis_percentile_EVS: 86.89

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.144

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam229b