FAM210B

family with sequence similarity 210 member B

Basic information

Region (hg38): 20:56358974-56368663

Previous symbols: [ "C20orf108" ]

Links

ENSG00000124098 ∙ NCBI:116151 ∙ OMIM:618722 ∙ HGNC:16102 ∙ Uniprot:Q96KR6 ∙ 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 FAM210B gene.

• not_specified (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM210B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080821.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	19	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM210B	protein_coding	protein_coding	ENST00000371384	3	9749

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0871	0.774	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.850	58	79.3	0.731	0.00000414	1184
Missense in Polyphen		15	32.723	0.45839		393
Synonymous	-0.0832	34	33.4	1.02	0.00000191	421
Loss of Function	1.10	2	4.53	0.442	1.89e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000214	0.000213
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in erythroid differentiation (PubMed:26968549). Involved in cell proliferation and tumor cell growth suppression (PubMed:28594398). Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner (PubMed:28594398). {ECO:0000269|PubMed:26968549, ECO:0000269|PubMed:28594398}.

Recessive Scores

• pRec: 0.103

Haploinsufficiency Scores

• pHI: 0.223
• hipred: N
• hipred_score: 0.178
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam210b

Gene ontology

• Biological process: erythrocyte maturation;positive regulation of erythrocyte differentiation;cellular response to estradiol stimulus
• Cellular component: mitochondrial outer membrane;integral component of membrane;intrinsic component of membrane