EEIG1

estrogen-induced osteoclastogenesis regulator 1, the group of NT-C2 domain containing

Basic information

Region (hg38): 9:127940582-127980989

Previous symbols: [ "C9orf132", "FAM102A" ]

Links

ENSG00000167106 ∙ NCBI:399665 ∙ OMIM:610891 ∙ HGNC:31419 ∙ Uniprot:Q5T9C2 ∙ 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 EEIG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEIG1 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			38			38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	39	0	0

Variants in EEIG1

This is a list of pathogenic ClinVar variants found in the EEIG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-127943218-C-T		not specified	Uncertain significance (Feb 22, 2025)
9-127943220-T-C		not specified	Uncertain significance (Nov 14, 2023)
9-127943224-C-T		not specified	Uncertain significance (Aug 11, 2022)
9-127944642-G-A		not specified	Uncertain significance (Aug 28, 2024)
9-127944642-G-C		not specified	Uncertain significance (Oct 27, 2023)
9-127944655-C-T		not specified	Uncertain significance (Apr 15, 2024)
9-127944843-C-T		not specified	Uncertain significance (Oct 16, 2023)
9-127944857-T-C		not specified	Uncertain significance (May 15, 2024)
9-127944878-T-C		not specified	Uncertain significance (Jan 17, 2023)
9-127945397-C-T		not specified	Uncertain significance (Jun 28, 2024)
9-127945403-G-A		not specified	Uncertain significance (Sep 01, 2021)
9-127945409-G-A		not specified	Uncertain significance (May 15, 2024)
9-127945412-G-A		not specified	Uncertain significance (May 10, 2023)
9-127945428-G-A		not specified	Uncertain significance (Feb 26, 2025)
9-127945436-C-T		not specified	Uncertain significance (Feb 15, 2025)
9-127945437-G-A		not specified	Uncertain significance (Jan 02, 2024)
9-127945461-C-T		not specified	Uncertain significance (Apr 17, 2024)
9-127945478-C-G		not specified	Uncertain significance (Nov 12, 2024)
9-127945517-G-A		not specified	Uncertain significance (Oct 06, 2022)
9-127945542-G-A		not specified	Uncertain significance (Feb 22, 2025)
9-127945544-G-A		not specified	Uncertain significance (Feb 25, 2025)
9-127945690-G-A		not specified	Uncertain significance (Oct 14, 2023)
9-127945742-C-T		not specified	Uncertain significance (Dec 01, 2024)
9-127948080-G-A		not specified	Uncertain significance (Oct 26, 2021)
9-127948085-G-C		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EEIG1	protein_coding	protein_coding	ENST00000373095	11	39935

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.110	0.889	125738	0	7	125745	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.33	193	253	0.764	0.0000167	2472
Missense in Polyphen		57	93.719	0.6082		871
Synonymous	-0.386	114	109	1.05	0.00000762	776
Loss of Function	2.84	5	18.0	0.278	8.62e-7	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in estrogen action. {ECO:0000269|PubMed:14605097}.

Recessive Scores

• pRec: 0.122

Intolerance Scores

• loftool: 0.210
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.59

Haploinsufficiency Scores

• pHI: 0.241
• hipred: Y
• hipred_score: 0.662
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.382

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam102a

Gene ontology

• Molecular function: protein binding