ERICH3

glutamate rich 3

Basic information

Region (hg38): 1:74568117-74673792

Previous symbols: [ "C1orf173" ]

Links

ENSG00000178965 ∙ NCBI:127254 ∙ ∙ HGNC:25346 ∙ Uniprot:Q5RHP9 ∙ 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 ERICH3 gene.

• not_specified (194 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERICH3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001002912.5. 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					1	1
missense			180	15		195
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	180	15	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERICH3	protein_coding	protein_coding	ENST00000326665	14	105628

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.08e-42	8.62e-8	125538	1	209	125748	0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.07	935	773	1.21	0.0000391	9991
Missense in Polyphen		161	148.44	1.0846		2135
Synonymous	-1.14	311	287	1.09	0.0000154	2940
Loss of Function	-0.665	61	55.6	1.10	0.00000288	824

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00227	0.00227
Ashkenazi Jewish	0.000201	0.000198
East Asian	0.000723	0.000707
Finnish	0.000285	0.000277
European (Non-Finnish)	0.000793	0.000783
Middle Eastern	0.000723	0.000707
South Asian	0.000761	0.000752
Other	0.00147	0.00147

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.04
• rvis_percentile_EVS: 97.75

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.153
• ghis: 0.459

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Erich3