RELL1

RELT like 1, the group of RELT family

Basic information

Region (hg38): 4:37590799-37686376

Links

ENSG00000181826 ∙ NCBI:768211 ∙ OMIM:611212 ∙ HGNC:27379 ∙ Uniprot:Q8IUW5 ∙ 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 RELL1 gene.

• Inborn genetic diseases (13 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RELL1 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					1	1
missense			12	1	1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	2

Variants in RELL1

This is a list of pathogenic ClinVar variants found in the RELL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-37631393-C-T		not specified	Uncertain significance (Apr 27, 2022)
4-37631402-T-C		not specified	Uncertain significance (Mar 07, 2024)
4-37634920-C-T		not specified	Uncertain significance (Feb 05, 2024)
4-37634921-G-A		not specified	Uncertain significance (Dec 15, 2023)
4-37634987-G-A		not specified	Uncertain significance (Jul 06, 2021)
4-37634995-A-T		not specified	Uncertain significance (Dec 19, 2022)
4-37634996-C-T		not specified	Uncertain significance (Feb 03, 2022)
4-37635001-C-G		not specified	Uncertain significance (Jul 06, 2021)
4-37635044-C-T		not specified	Likely benign (May 26, 2023)
4-37635055-G-A		not specified	Uncertain significance (Nov 08, 2022)
4-37635068-G-T		not specified	Uncertain significance (Nov 09, 2021)
4-37638457-C-A		not specified	Uncertain significance (May 09, 2023)
4-37638458-A-G			Benign (Apr 04, 2018)
4-37638483-G-A		not specified	Uncertain significance (May 26, 2022)
4-37649279-T-A		not specified	Uncertain significance (Dec 20, 2023)
4-37649366-C-T		not specified	Uncertain significance (Sep 22, 2023)
4-37649377-C-T		not specified	Uncertain significance (Apr 27, 2023)
4-37649452-G-A		not specified	Uncertain significance (Apr 25, 2023)
4-37649458-G-T		not specified	Uncertain significance (Dec 22, 2023)
4-37649476-T-C		not specified	Uncertain significance (Mar 27, 2023)
4-37686227-C-G		not specified	Uncertain significance (Feb 28, 2024)
4-37686239-A-G			Benign (Apr 04, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RELL1	protein_coding	protein_coding	ENST00000454158	6	95577

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.959	0.0412	124792	0	5	124797	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	128	169	0.757	0.0000105	1759
Missense in Polyphen		32	54.75	0.58447		557
Synonymous	-0.610	77	70.5	1.09	0.00000481	550
Loss of Function	2.93	0	9.96	0.00	4.17e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000655	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290). {ECO:0000269|PubMed:19969290, ECO:0000269|PubMed:28688764}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.259
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.12

Haploinsufficiency Scores

• pHI: 0.0640
• hipred: Y
• hipred_score: 0.654
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rell1

Gene ontology

• Biological process: positive regulation of p38MAPK cascade
• Cellular component: plasma membrane;microtubule cytoskeleton;integral component of membrane
• Molecular function: protein binding