ERICH6B

glutamate rich 6B

Basic information

Region (hg38): 13:45534522-45615739

Previous symbols: [ "FAM194B" ]

Links

ENSG00000165837 ∙ NCBI:220081 ∙ ∙ HGNC:26523 ∙ Uniprot:Q5W0A0 ∙ 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 ERICH6B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERICH6B 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				5		5
missense			45	4		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	9	0

Variants in ERICH6B

This is a list of pathogenic ClinVar variants found in the ERICH6B region.

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

Position	Type	Phenotype	Significance	ClinVar
13-45541532-A-G		not specified	Likely benign (Jun 13, 2023)
13-45541533-T-A		not specified	Uncertain significance (Feb 14, 2025)
13-45541559-G-A		not specified	Likely benign (Mar 07, 2024)
13-45541560-C-T		not specified	Uncertain significance (Aug 19, 2024)
13-45541579-C-T		not specified	Uncertain significance (Oct 09, 2024)
13-45541598-C-T		not specified	Likely benign (Dec 27, 2022)
13-45541609-G-C			Likely benign (Feb 01, 2023)
13-45541656-C-T		not specified	Uncertain significance (Dec 02, 2024)
13-45544809-A-G		not specified	Uncertain significance (Jan 06, 2023)
13-45544835-C-A		not specified	Uncertain significance (Jun 06, 2023)
13-45544956-T-C		not specified	Uncertain significance (Mar 01, 2025)
13-45544963-C-T		not specified	Uncertain significance (Oct 12, 2022)
13-45544968-T-C		not specified	Uncertain significance (Apr 17, 2024)
13-45549914-T-C		not specified	Uncertain significance (Jun 11, 2021)
13-45549948-C-A		not specified	Uncertain significance (Feb 24, 2025)
13-45549975-C-G		not specified	Uncertain significance (Feb 17, 2023)
13-45550017-T-C		not specified	Uncertain significance (Oct 05, 2023)
13-45550249-T-C		not specified	Uncertain significance (May 03, 2023)
13-45550267-T-C		not specified	Uncertain significance (Jun 16, 2022)
13-45550301-C-T		not specified	Uncertain significance (Dec 27, 2023)
13-45561370-A-G		not specified	Uncertain significance (Jul 05, 2022)
13-45561419-G-A		not specified	Uncertain significance (Oct 06, 2021)
13-45561431-G-A		not specified	Uncertain significance (Oct 17, 2024)
13-45561462-C-A		not specified	Uncertain significance (Nov 07, 2023)
13-45561473-T-A		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERICH6B	protein_coding	protein_coding	ENST00000298738	13	81218

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00e-14	0.251	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.79	250	344	0.728	0.0000171	4564
Missense in Polyphen		44	64.744	0.6796		908
Synonymous	1.04	118	133	0.886	0.00000700	1229
Loss of Function	1.23	26	33.7	0.771	0.00000162	473

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.71
• rvis_percentile_EVS: 98.94

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Erich6b