FAM210A

family with sequence similarity 210 member A

Basic information

Region (hg38): 18:13663347-13726663

Previous symbols: [ "C18orf19" ]

Links

ENSG00000177150 ∙ NCBI:125228 ∙ OMIM:617975 ∙ HGNC:28346 ∙ Uniprot:Q96ND0 ∙ 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 FAM210A gene.

• not_specified (35 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM210A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152352.4. 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			32	3		35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM210A	protein_coding	protein_coding	ENST00000322247	3	63317

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000106	0.350	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.456	133	149	0.895	0.00000788	1752
Missense in Polyphen		37	55.363	0.66831		643
Synonymous	-0.102	56	55.0	1.02	0.00000278	549
Loss of Function	0.449	10	11.7	0.858	6.55e-7	142

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000405	0.000403
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000232	0.000231
European (Non-Finnish)	0.000136	0.000132
Middle Eastern	0.000218	0.000217
South Asian	0.000193	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the structure and strength of both muscle and bone. {ECO:0000250|UniProtKB:Q8BGY7}.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.292
• ghis: 0.579

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• 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: Fam210a
• Phenotype: growth/size/body region phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; skeleton phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: cytoplasm;mitochondrion;integral component of membrane
• Molecular function: molecular_function