ERICH3

glutamate rich 3

Basic information

Region (hg38): 1:74568116-74673792

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.

• Inborn genetic diseases (52 variants)
• not provided (2 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.

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			48	5		53
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	48	5	0

Variants in ERICH3

This is a list of pathogenic ClinVar variants found in the ERICH3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-74571148-G-T		not specified	Uncertain significance (Jan 03, 2022)
1-74571190-C-T		not specified	Likely benign (Dec 21, 2022)
1-74571277-A-G		not specified	Uncertain significance (Jan 08, 2024)
1-74571371-C-T		not specified	Uncertain significance (Apr 22, 2022)
1-74571404-C-A		not specified	Uncertain significance (Mar 29, 2023)
1-74571650-C-A		not specified	Uncertain significance (Mar 30, 2022)
1-74571650-C-G		not specified	Uncertain significance (Aug 28, 2023)
1-74571694-G-A		not specified	Uncertain significance (Oct 12, 2021)
1-74571956-C-A		not specified	Uncertain significance (Oct 27, 2023)
1-74572058-C-T		not specified	Uncertain significance (Dec 02, 2022)
1-74572067-C-A		not specified	Uncertain significance (Aug 12, 2021)
1-74572110-C-A		not specified	Uncertain significance (Sep 12, 2023)
1-74572183-T-C		not specified	Uncertain significance (Oct 13, 2023)
1-74572236-T-G		not specified	Uncertain significance (May 23, 2023)
1-74572277-C-G		not specified	Uncertain significance (May 18, 2022)
1-74572366-G-C		not specified	Uncertain significance (Jun 18, 2021)
1-74572380-T-A		not specified	Uncertain significance (Nov 03, 2023)
1-74572381-C-A		not specified	Uncertain significance (Nov 03, 2023)
1-74572384-A-G		not specified	Uncertain significance (Sep 14, 2023)
1-74572403-C-T		not specified	Uncertain significance (Jan 06, 2023)
1-74572417-A-C		not specified	Uncertain significance (Aug 10, 2021)
1-74572432-T-C		not specified	Uncertain significance (Nov 29, 2023)
1-74572462-G-T		not specified	Uncertain significance (Oct 04, 2022)
1-74572464-C-A		not specified	Uncertain significance (Sep 22, 2023)
1-74572505-A-T		not specified	Uncertain significance (Nov 09, 2023)

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