FAM110D

family with sequence similarity 110 member D

Basic information

Region (hg38): 1:26159079-26163962

Previous symbols: [ "GRRP1" ]

Links

ENSG00000197245 ∙ NCBI:79927 ∙ ∙ HGNC:25860 ∙ Uniprot:Q8TAY7 ∙ 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 FAM110D gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM110D 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			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in FAM110D

This is a list of pathogenic ClinVar variants found in the FAM110D region.

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

Position	Type	Phenotype	Significance	ClinVar
1-26161326-G-C		not specified	Uncertain significance (Jul 12, 2023)
1-26161391-G-C		not specified	Uncertain significance (Jan 10, 2023)
1-26161416-C-G		not specified	Uncertain significance (Sep 11, 2024)
1-26161422-G-A		not specified	Uncertain significance (Oct 29, 2024)
1-26161439-C-T		not specified	Uncertain significance (Feb 14, 2025)
1-26161491-C-T		not specified	Uncertain significance (Jun 18, 2021)
1-26161563-G-A		not specified	Uncertain significance (Feb 28, 2023)
1-26161685-G-T		not specified	Likely benign (Jan 09, 2024)
1-26161718-C-G		not specified	Uncertain significance (Feb 06, 2024)
1-26161781-C-G		not specified	Uncertain significance (May 24, 2024)
1-26161791-A-G		not specified	Uncertain significance (Apr 12, 2024)
1-26161838-C-G		not specified	Uncertain significance (Oct 20, 2021)
1-26161848-C-G		not specified	Uncertain significance (Feb 26, 2025)
1-26161856-T-A		not specified	Uncertain significance (May 23, 2024)
1-26161881-C-A		not specified	Uncertain significance (Sep 11, 2024)
1-26161881-C-G		not specified	Uncertain significance (Feb 15, 2023)
1-26161895-C-G		not specified	Uncertain significance (Sep 12, 2023)
1-26161907-G-C		not specified	Uncertain significance (Jan 20, 2023)
1-26161931-A-C		not specified	Uncertain significance (Jun 22, 2023)
1-26161989-C-T		not specified	Uncertain significance (Jan 19, 2024)
1-26162009-C-T		not specified	Uncertain significance (Jan 12, 2024)
1-26162016-C-G		not specified	Uncertain significance (Nov 08, 2022)
1-26162016-C-T		not specified	Uncertain significance (May 04, 2022)
1-26162028-T-C		not specified	Uncertain significance (Jan 26, 2023)
1-26162042-C-T		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM110D	protein_coding	protein_coding	ENST00000374268	1	3609

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.394	0.569	108574	0	1	108575	0.00000461

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	83	118	0.705	0.00000573	1644
Missense in Polyphen		38	52.545	0.72319		700
Synonymous	1.40	42	55.2	0.761	0.00000279	629
Loss of Function	1.65	1	4.98	0.201	2.11e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000622	0.0000622
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000622	0.0000622
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.428
• hipred: N
• hipred_score: 0.324
• ghis: 0.424

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: Grrp1