ERICH4

glutamate rich 4

Basic information

Region (hg38): 19:41443156-41444765

Previous symbols: [ "C19orf69" ]

Links

ENSG00000204978 ∙ NCBI:100170765 ∙ ∙ HGNC:34497 ∙ Uniprot:A6NGS2 ∙ 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 ERICH4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERICH4 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			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in ERICH4

This is a list of pathogenic ClinVar variants found in the ERICH4 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-41443204-T-G		not specified	Uncertain significance (Feb 22, 2023)
19-41443213-C-T		not specified	Uncertain significance (Oct 03, 2022)
19-41443230-C-T		not specified	Uncertain significance (Nov 18, 2022)
19-41443235-G-C		not specified	Uncertain significance (Jan 30, 2024)
19-41443272-C-G		not specified	Uncertain significance (Oct 06, 2024)
19-41443290-G-C		not specified	Uncertain significance (May 08, 2024)
19-41443306-G-T		not specified	Uncertain significance (Jan 22, 2024)
19-41443324-T-C		not specified	Uncertain significance (Jun 04, 2024)
19-41444016-G-A		not specified	Uncertain significance (Dec 20, 2024)
19-41444019-G-A		not specified	Likely benign (Aug 10, 2021)
19-41444021-G-A		not specified	Uncertain significance (Jul 26, 2024)
19-41444051-A-C		not specified	Uncertain significance (Oct 19, 2024)
19-41444068-G-A		not specified	Likely benign (Jan 27, 2025)
19-41444079-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-41444121-G-A		not specified	Uncertain significance (Aug 09, 2021)
19-41444151-A-G		not specified	Uncertain significance (Dec 05, 2022)
19-41444190-C-T		not specified	Uncertain significance (Dec 22, 2024)
19-41444207-T-C		not specified	Uncertain significance (Nov 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERICH4	protein_coding	protein_coding	ENST00000378187	2	1608

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0392	0.662	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.564	42	53.6	0.783	0.00000264	824
Missense in Polyphen		13	13.732	0.9467		204
Synonymous	1.21	15	22.2	0.675	0.00000104	265
Loss of Function	0.449	2	2.81	0.711	1.96e-7	33

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

Haploinsufficiency Scores

• ghis: 0.394

Mouse Genome Informatics

• Gene name: Erich4