IER5L

immediate early response 5 like

Basic information

Region (hg38): 9:129175552-129178261

Links

ENSG00000188483 ∙ NCBI:389792 ∙ ∙ HGNC:23679 ∙ Uniprot:Q5T953 ∙ 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 IER5L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IER5L 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					2	2
missense			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	2

Variants in IER5L

This is a list of pathogenic ClinVar variants found in the IER5L region.

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

Position	Type	Phenotype	Significance	ClinVar
9-129176914-G-T		not specified	Uncertain significance (Nov 15, 2021)
9-129176920-G-A		not specified	Uncertain significance (Nov 08, 2024)
9-129177065-G-A		not specified	Uncertain significance (Oct 03, 2024)
9-129177092-G-C		not specified	Uncertain significance (Jul 05, 2023)
9-129177094-C-T		not specified	Likely benign (Oct 06, 2021)
9-129177104-C-T		not specified	Uncertain significance (Apr 23, 2024)
9-129177107-C-T		not specified	Uncertain significance (Jun 04, 2024)
9-129177111-G-C		not specified	Uncertain significance (Mar 29, 2022)
9-129177113-C-G		not specified	Uncertain significance (May 30, 2024)
9-129177151-T-G		not specified	Uncertain significance (Oct 05, 2023)
9-129177163-G-A		not specified	Uncertain significance (May 13, 2024)
9-129177185-G-C		not specified	Uncertain significance (Sep 02, 2024)
9-129177206-G-A		not specified	Uncertain significance (Sep 16, 2021)
9-129177266-C-T		not specified	Uncertain significance (Feb 28, 2024)
9-129177273-G-A			Benign (Dec 31, 2019)
9-129177305-A-C		not specified	Uncertain significance (Dec 20, 2023)
9-129177307-T-C		not specified	Uncertain significance (Feb 05, 2024)
9-129177308-G-A		not specified	Uncertain significance (Sep 28, 2021)
9-129177325-G-A		not specified	Uncertain significance (Nov 27, 2024)
9-129177326-G-A		not specified	Uncertain significance (Sep 24, 2024)
9-129177332-G-A		not specified	Uncertain significance (Jul 31, 2024)
9-129177355-G-T		not specified	Uncertain significance (Jun 14, 2023)
9-129177372-C-A			Benign (Dec 31, 2019)
9-129177388-G-T		not specified	Uncertain significance (May 04, 2023)
9-129177413-C-T		not specified	Uncertain significance (Oct 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IER5L	protein_coding	protein_coding	ENST00000372491	1	2706

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.554	0.434	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.575	106	124	0.855	0.00000581	2500
Missense in Polyphen		9	22.381	0.40212		331
Synonymous	-3.91	93	55.8	1.67	0.00000285	861
Loss of Function	2.02	1	6.61	0.151	2.95e-7	103

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

• pHI: 0.443
• hipred: N
• hipred_score: 0.419
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.360

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ier5l