EEIG2

EEIG family member 2, the group of NT-C2 domain containing

Basic information

Region (hg38): 1:108560089-108644900

Previous symbols: [ "FAM102B" ]

Links

ENSG00000162636 ∙ NCBI:284611 ∙ ∙ HGNC:27637 ∙ Uniprot:Q5T8I3 ∙ 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 EEIG2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEIG2 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in EEIG2

This is a list of pathogenic ClinVar variants found in the EEIG2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-108560465-T-G		not specified	Uncertain significance (Jul 30, 2023)
1-108560502-A-G		not specified	Uncertain significance (Dec 28, 2023)
1-108560531-C-A		not specified	Uncertain significance (May 16, 2024)
1-108560544-G-A		not specified	Uncertain significance (Jul 27, 2024)
1-108600633-A-G		not specified	Uncertain significance (May 25, 2022)
1-108612187-G-A		not specified	Uncertain significance (Mar 21, 2023)
1-108612210-T-G		not specified	Uncertain significance (Jun 25, 2024)
1-108612256-G-A		not specified	Uncertain significance (Nov 13, 2024)
1-108624667-A-G		not specified	Uncertain significance (Dec 18, 2023)
1-108624685-T-C		not specified	Uncertain significance (Aug 14, 2024)
1-108624722-C-T		not specified	Uncertain significance (Sep 02, 2024)
1-108628206-G-T		not specified	Uncertain significance (Aug 04, 2023)
1-108628512-T-C		not specified	Uncertain significance (Mar 06, 2023)
1-108628523-A-G		not specified	Uncertain significance (Dec 20, 2023)
1-108628545-C-T		not specified	Uncertain significance (Nov 23, 2024)
1-108628578-T-G		not specified	Uncertain significance (Feb 05, 2024)
1-108628694-A-T		not specified	Uncertain significance (Dec 21, 2022)
1-108629638-A-G		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EEIG2	protein_coding	protein_coding	ENST00000370035	11	84812

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000399	0.992	125715	0	33	125748	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.999	155	194	0.798	0.00000965	2350
Missense in Polyphen		46	65.022	0.70745		796
Synonymous	1.08	58	69.4	0.835	0.00000345	689
Loss of Function	2.33	9	20.3	0.443	0.00000103	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000264
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000169	0.000167
Middle Eastern	0.000110	0.000109
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.212
• hipred: Y
• hipred_score: 0.605
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.640

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam102b