RPL7L1

ribosomal protein L7 like 1, the group of L ribosomal proteins

Basic information

Region (hg38): 6:42879615-42889925

Links

ENSG00000146223 ∙ NCBI:285855 ∙ OMIM:617417 ∙ HGNC:21370 ∙ Uniprot:Q6DKI1 ∙ 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 RPL7L1 gene.

• Inborn genetic diseases (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL7L1 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in RPL7L1

This is a list of pathogenic ClinVar variants found in the RPL7L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-42880884-C-T		not specified	Uncertain significance (Apr 07, 2022)
6-42880926-A-G		not specified	Uncertain significance (Oct 18, 2021)
6-42880949-C-T		not specified	Uncertain significance (Sep 29, 2023)
6-42883500-A-G		not specified	Uncertain significance (Aug 06, 2021)
6-42883512-G-A		not specified	Uncertain significance (Feb 01, 2023)
6-42883520-C-T		not specified	Uncertain significance (Jun 23, 2021)
6-42883521-G-A		not specified	Uncertain significance (May 23, 2023)
6-42883572-T-G		not specified	Uncertain significance (Jun 30, 2022)
6-42883584-A-G		not specified	Uncertain significance (Oct 06, 2021)
6-42883605-G-A		not specified	Uncertain significance (Apr 07, 2023)
6-42883607-A-G		not specified	Uncertain significance (Dec 18, 2023)
6-42883610-G-A		not specified	Uncertain significance (Oct 26, 2022)
6-42884659-C-T		not specified	Uncertain significance (Sep 16, 2021)
6-42884660-G-A		not specified	Uncertain significance (Jan 26, 2023)
6-42884744-C-T		not specified	Uncertain significance (Jan 19, 2024)
6-42885977-T-G		not specified	Uncertain significance (Jan 23, 2023)
6-42886060-A-G		not specified	Uncertain significance (Sep 12, 2023)
6-42886421-A-G		not specified	Uncertain significance (Jan 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL7L1	protein_coding	protein_coding	ENST00000493763	6	10308

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000156	0.883	125720	0	27	125747	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.399	157	144	1.09	0.00000860	1595
Missense in Polyphen		23	28.494	0.80718		437
Synonymous	-1.17	59	48.6	1.21	0.00000232	484
Loss of Function	1.43	8	13.7	0.583	8.41e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000154	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.000262	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.26

Haploinsufficiency Scores

• pHI: 0.110
• hipred: Y
• hipred_score: 0.756
• ghis: 0.660

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.830

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rpl7l1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: rpl7l1
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: curved dorsal

Gene ontology

• Biological process: maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);blastocyst formation
• Cellular component: nucleolus;cytosolic large ribosomal subunit
• Molecular function: RNA binding;structural constituent of ribosome