ERH

ERH mRNA splicing and mitosis factor

Basic information

Region (hg38): 14:69380128-69398299

Links

ENSG00000100632

∙ NCBI:2079 ∙ OMIM:601191 ∙ HGNC:3447 ∙ Uniprot:P84090 ∙ 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 ERH gene.

Variants pathogenicity by type

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

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERH	protein_coding	protein_coding	ENST00000557016	4	18497

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.888	0.111	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.33	8	57.9	0.138	0.00000297	687
Missense in Polyphen		2	14.256	0.1403		195
Synonymous	0.369	19	21.2	0.898	0.00000118	177
Loss of Function	2.47	0	7.11	0.00	3.86e-7	77

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

Function: FUNCTION: May have a role in the cell cycle.;

Recessive Scores

pRec: 0.186

Intolerance Scores

loftool
rvis_EVS: 0.1
rvis_percentile_EVS: 60.96

Haploinsufficiency Scores

pHI: 0.746
hipred: Y
hipred_score: 0.673
ghis: 0.632

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: N
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.781

Mouse Genome Informatics

Gene name: Erh
Phenotype

Gene ontology

Biological process: nucleobase-containing compound metabolic process;pyrimidine nucleoside metabolic process;pyrimidine nucleotide biosynthetic process;cell cycle;positive regulation of Notch signaling pathway
Cellular component: midbody;methylosome
Molecular function: RNA binding;protein binding;methyl-CpG binding