ERICH1

glutamate rich 1

Basic information

Region (hg38): 8:614745-738106

Links

ENSG00000104714 ∙ NCBI:157697 ∙ ∙ HGNC:27234 ∙ Uniprot:Q86X53 ∙ 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 ERICH1 gene.

• Inborn genetic diseases (34 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERICH1 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			33	1		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	1	0

Variants in ERICH1

This is a list of pathogenic ClinVar variants found in the ERICH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-668603-G-C		not specified	Uncertain significance (Sep 01, 2021)
8-668609-G-A		not specified	Uncertain significance (Jun 24, 2022)
8-668626-C-A		not specified	Uncertain significance (Aug 13, 2021)
8-668626-C-T		not specified	Uncertain significance (May 09, 2023)
8-668675-G-A		not specified	Uncertain significance (Aug 12, 2021)
8-668727-C-T		not specified	Uncertain significance (Nov 02, 2023)
8-668732-C-T		not specified	Likely benign (Jul 12, 2022)
8-668753-G-A		not specified	Uncertain significance (Jan 23, 2024)
8-668778-C-G		not specified	Uncertain significance (May 17, 2023)
8-673294-T-C		not specified	Uncertain significance (Jun 06, 2022)
8-673348-T-C		not specified	Uncertain significance (Jun 11, 2021)
8-673400-C-T		not specified	Uncertain significance (Dec 02, 2021)
8-673411-C-A		not specified	Uncertain significance (Nov 15, 2021)
8-673447-C-A		not specified	Uncertain significance (Mar 16, 2022)
8-673456-G-A		not specified	Uncertain significance (Dec 28, 2022)
8-673462-T-C		not specified	Uncertain significance (Feb 03, 2023)
8-673474-G-A		not specified	Uncertain significance (Feb 17, 2022)
8-673532-C-T		not specified	Uncertain significance (Feb 27, 2023)
8-673547-C-G		not specified	Uncertain significance (May 09, 2023)
8-673604-C-A		not specified	Uncertain significance (Sep 01, 2021)
8-673622-G-A		not specified	Uncertain significance (Dec 28, 2023)
8-673629-G-C		not specified	Uncertain significance (Mar 17, 2023)
8-673660-T-G		not specified	Uncertain significance (Sep 16, 2021)
8-673663-C-G		not specified	Uncertain significance (Feb 07, 2023)
8-673723-C-T		not specified	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERICH1	protein_coding	protein_coding	ENST00000262109	6	123361

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.14e-14	0.00592	125674	0	74	125748	0.000294

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.66	388	266	1.46	0.0000160	2935
Missense in Polyphen		84	59.796	1.4048		781
Synonymous	-3.57	162	114	1.43	0.00000885	821
Loss of Function	-0.529	20	17.6	1.14	9.15e-7	217

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000993	0.000984
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000364	0.000360
Middle Eastern	0.000109	0.000109
South Asian	0.000269	0.000261
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0752

Intolerance Scores

• loftool: 0.850
• rvis_EVS: 0.07
• rvis_percentile_EVS: 59.16

Haploinsufficiency Scores

• pHI: 0.0677
• hipred: N
• hipred_score: 0.153
• ghis: 0.481

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0476

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Erich1