ERICH5

glutamate rich 5

Basic information

Region (hg38): 8:98064522-98093610

Previous symbols: [ "C8orf47" ]

Links

ENSG00000177459 ∙ NCBI:203111 ∙ ∙ HGNC:26823 ∙ Uniprot:Q6P6B1 ∙ 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 ERICH5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERICH5 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in ERICH5

This is a list of pathogenic ClinVar variants found in the ERICH5 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-98064680-C-G		not specified	Uncertain significance (Aug 12, 2021)
8-98064709-A-C		not specified	Uncertain significance (Aug 12, 2021)
8-98089178-T-A		not specified	Uncertain significance (Dec 02, 2022)
8-98089191-C-A		not specified	Uncertain significance (Jul 26, 2021)
8-98089321-G-A		not specified	Uncertain significance (Mar 15, 2024)
8-98089322-A-G		not specified	Uncertain significance (Mar 15, 2024)
8-98089349-A-G		not specified	Uncertain significance (Nov 08, 2022)
8-98089418-C-T		not specified	Likely benign (Jun 11, 2024)
8-98089427-G-A		not specified	Uncertain significance (Jan 23, 2023)
8-98089513-G-A		not specified	Uncertain significance (Dec 19, 2022)
8-98089574-A-C		not specified	Uncertain significance (Feb 11, 2022)
8-98089597-G-A		not specified	Likely benign (Apr 26, 2024)
8-98089661-C-A		not specified	Uncertain significance (Sep 20, 2023)
8-98089661-C-G		not specified	Uncertain significance (Feb 06, 2024)
8-98089661-C-T		not specified	Uncertain significance (May 31, 2024)
8-98089670-T-A		not specified	Uncertain significance (Jun 14, 2022)
8-98089670-T-C		not specified	Likely benign (Jul 12, 2023)
8-98089693-G-C		not specified	Uncertain significance (Apr 08, 2023)
8-98089695-A-C		not specified	Uncertain significance (Jul 09, 2021)
8-98089711-G-C		not specified	Uncertain significance (Apr 08, 2024)
8-98089745-A-G		not specified	Uncertain significance (Apr 13, 2023)
8-98089751-T-C		not specified	Uncertain significance (Jan 26, 2023)
8-98089763-T-C		not specified	Uncertain significance (Jun 02, 2023)
8-98089849-G-A		not specified	Uncertain significance (Oct 27, 2022)
8-98089909-C-A		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERICH5	protein_coding	protein_coding	ENST00000318528	3	29300

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000184	0.706	125714	0	10	125724	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.155	199	193	1.03	0.00000881	2422
Missense in Polyphen		22	29.749	0.73951		329
Synonymous	0.644	64	70.9	0.903	0.00000351	752
Loss of Function	1.03	9	13.0	0.692	6.48e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000126	0.000125
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000267	0.0000264
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.95

Haploinsufficiency Scores

• pHI: 0.0316
• hipred: N
• hipred_score: 0.153
• ghis: 0.475

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Erich5