ERICH6

glutamate rich 6

Basic information

Region (hg38): 3:150659885-150703971

Previous symbols: [ "C3orf44", "FAM194A" ]

Links

ENSG00000163645 ∙ NCBI:131831 ∙ ∙ HGNC:28602 ∙ Uniprot:Q7L0X2 ∙ 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 ERICH6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERICH6 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				1		1
missense			48	3		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	4	0

Variants in ERICH6

This is a list of pathogenic ClinVar variants found in the ERICH6 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-150659908-A-G		not specified	Uncertain significance (Dec 13, 2023)
3-150659995-T-C		not specified	Uncertain significance (Apr 15, 2024)
3-150660046-C-A		not specified	Uncertain significance (Feb 01, 2025)
3-150660071-G-A		not specified	Uncertain significance (Jun 07, 2023)
3-150660084-T-G		not specified	Uncertain significance (Dec 20, 2023)
3-150660119-C-T		not specified	Uncertain significance (Sep 24, 2024)
3-150660121-T-A		not specified	Uncertain significance (Jul 19, 2023)
3-150660143-C-T		not specified	Uncertain significance (Jan 02, 2024)
3-150666791-A-C		not specified	Uncertain significance (Feb 06, 2023)
3-150666828-T-C		not specified	Uncertain significance (Jun 13, 2023)
3-150666831-C-A		not specified	Uncertain significance (Dec 03, 2024)
3-150666843-T-C		not specified	Uncertain significance (Jan 20, 2025)
3-150666869-C-T		not specified	Uncertain significance (Aug 16, 2021)
3-150666872-A-G		not specified	Uncertain significance (Dec 30, 2024)
3-150666885-G-C		not specified	Uncertain significance (Mar 18, 2024)
3-150666950-T-C		not specified	Uncertain significance (Nov 29, 2021)
3-150666968-T-C		not specified	Uncertain significance (Dec 17, 2024)
3-150666978-G-C		not specified	Uncertain significance (Oct 13, 2023)
3-150666992-C-T		not specified	Uncertain significance (Jun 19, 2024)
3-150667004-T-C		not specified	Uncertain significance (Oct 12, 2024)
3-150667008-T-C		not specified	Uncertain significance (May 15, 2024)
3-150669321-A-C		not specified	Uncertain significance (Apr 08, 2024)
3-150669326-C-G		not specified	Uncertain significance (Nov 10, 2023)
3-150669360-C-A		not specified	Uncertain significance (Apr 09, 2024)
3-150669395-G-A		not specified	Uncertain significance (Aug 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERICH6	protein_coding	protein_coding	ENST00000295910	14	44087

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.82e-29	0.00000562	125220	4	522	125746	0.00209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.274	363	349	1.04	0.0000168	4368
Missense in Polyphen		108	106.77	1.0115		1388
Synonymous	1.14	110	126	0.871	0.00000623	1218
Loss of Function	-1.07	40	33.3	1.20	0.00000166	417

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00281	0.00280
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.00141	0.00141
Finnish	0.000371	0.000370
European (Non-Finnish)	0.00271	0.00269
Middle Eastern	0.00141	0.00141
South Asian	0.00230	0.00222
Other	0.00294	0.00294

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.82
• rvis_percentile_EVS: 97.02

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Erich6