FAM110C

family with sequence similarity 110 member C

Basic information

Region (hg38): 2:38813-46870

Links

ENSG00000184731 ∙ NCBI:642273 ∙ OMIM:611395 ∙ HGNC:33340 ∙ Uniprot:Q1W6H9 ∙ 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 FAM110C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM110C 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			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	0

Variants in FAM110C

This is a list of pathogenic ClinVar variants found in the FAM110C region.

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

Position	Type	Phenotype	Significance	ClinVar
2-45509-T-C		not specified	Uncertain significance (Jan 06, 2023)
2-45559-A-C		not specified	Uncertain significance (May 24, 2023)
2-45602-G-A		not specified	Uncertain significance (Sep 20, 2023)
2-45622-G-T		not specified	Uncertain significance (Nov 12, 2021)
2-45695-C-G		Streaky metaphyseal sclerosis;Aplasia/Hypoplasia of the phalanges of the 4th toe	Pathogenic (-)
2-45696-C-G		Streaky metaphyseal sclerosis;Aplasia/Hypoplasia of the phalanges of the 4th toe	Pathogenic (-)
2-45713-C-A		not specified	Uncertain significance (Mar 16, 2023)
2-45784-T-G		not specified	Uncertain significance (Oct 06, 2022)
2-45806-G-A		not specified	Uncertain significance (Oct 12, 2022)
2-45821-G-T		not specified	Uncertain significance (Dec 28, 2023)
2-45836-G-T		not specified	Uncertain significance (Oct 27, 2023)
2-45844-G-A		not specified	Uncertain significance (Jul 06, 2021)
2-45857-G-T		not specified	Uncertain significance (Oct 20, 2023)
2-45863-C-T		not specified	Uncertain significance (Nov 22, 2021)
2-45866-A-G		not specified	Uncertain significance (Dec 01, 2022)
2-45868-C-T		not specified	Uncertain significance (Jan 11, 2023)
2-45899-C-G		not specified	Uncertain significance (Oct 04, 2023)
2-45901-G-T		not specified	Uncertain significance (May 30, 2023)
2-46005-G-C		not specified	Uncertain significance (Jan 17, 2024)
2-46061-A-C		not specified	Uncertain significance (Feb 28, 2024)
2-46127-G-T		not specified	Uncertain significance (Feb 03, 2022)
2-46141-G-C		not specified	Uncertain significance (Jun 05, 2023)
2-46148-G-A		not specified	Uncertain significance (May 26, 2024)
2-46160-C-A		not specified	Uncertain significance (Aug 02, 2023)
2-46166-C-A		not specified	Uncertain significance (Dec 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM110C	protein_coding	protein_coding	ENST00000327669	2	8057

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000988	0.199	124787	0	8	124795	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.329	131	142	0.922	0.00000653	1948
Missense in Polyphen		42	58.366	0.7196		738
Synonymous	-1.39	81	66.6	1.22	0.00000320	733
Loss of Function	-0.414	7	5.91	1.18	2.51e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.0000180	0.0000177
Middle Eastern	0.000167	0.000167
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway. {ECO:0000269|PubMed:17499476, ECO:0000269|PubMed:19698782}.

Recessive Scores

• pRec: 0.0993

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.238
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.240

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam110c

Gene ontology

• Biological process: positive regulation of cell migration;positive regulation of protein kinase B signaling;regulation of cell projection assembly
• Cellular component: spindle pole;nucleus;microtubule organizing center;microtubule;cell cortex
• Molecular function: protein binding;alpha-tubulin binding