RPL27

ribosomal protein L27, the group of L ribosomal proteins

Basic information

Region (hg38): 17:42998272-43002959

Links

ENSG00000131469 ∙ NCBI:6155 ∙ OMIM:607526 ∙ HGNC:10328 ∙ Uniprot:P61353 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Diamond-Blackfan anemia 16 (Limited), mode of inheritance: AD
• Diamond-Blackfan anemia 16 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Diamond-Blackfan anemia 16	AD	Cardiovascular; Hematologic; Oncologic	Specific treatment of anemia (eg, steroids, regular transfusions) can be effective; Surveillance for and early treatment of malignancy may allow early detection and management; Individuals with DBA may manifest a variety of congenital malformations (eg, cardiac anomalies), and awareness may allow prompt detection and management	Cardiovascular; Hematologic; Oncologic	25424902

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL27 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			3	7		10
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	1		2
non coding			2	2	11	15
Total	0	0	23	9	11

Variants in RPL27

This is a list of pathogenic ClinVar variants found in the RPL27 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-42998447-TG-T			Benign (Jun 19, 2021)
17-42998454-G-C			Benign (Oct 15, 2020)
17-42998504-C-T			Benign (Jun 19, 2021)
17-42998748-G-A		Diamond-Blackfan anemia 16	Pathogenic (Mar 28, 2017)
17-42998756-C-T		RPL27-related disorder	Uncertain significance (Sep 14, 2023)
17-42998783-G-A		not specified	Likely benign (Jan 18, 2024)
17-42998787-G-C			Uncertain significance (Jun 18, 2022)
17-42998790-C-G		Diamond-Blackfan anemia 16	Uncertain significance (Apr 04, 2024)
17-42998793-G-T			Uncertain significance (May 23, 2023)
17-42998811-C-G		not specified	Uncertain significance (May 11, 2022)
17-42998817-G-T		RPL27-related disorder	Uncertain significance (Jun 13, 2023)
17-42998825-C-T			Likely benign (May 17, 2023)
17-42998838-G-C			Uncertain significance (Oct 15, 2023)
17-42998899-G-A			Likely benign (Apr 01, 2023)
17-42998932-G-A			Benign (May 14, 2021)
17-42998966-T-C			Benign (May 14, 2021)
17-42999726-G-A			Benign (May 14, 2021)
17-42999941-T-C		RPL27-related disorder	Likely benign (Jan 25, 2024)
17-42999946-G-T			Uncertain significance (May 10, 2022)
17-42999975-C-G			Uncertain significance (May 23, 2023)
17-42999993-C-T			Uncertain significance (May 04, 2022)
17-42999996-TAC-CAG		not specified	Uncertain significance (Nov 02, 2022)
17-43000006-A-G			Uncertain significance (Feb 13, 2023)
17-43000018-C-T			Uncertain significance (Oct 16, 2023)
17-43000031-G-A			Benign/Likely benign (Jan 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL27	protein_coding	protein_coding	ENST00000589913	4	4687

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.850	0.147	125740	0	1	125741	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	54	83.3	0.648	0.00000488	884
Missense in Polyphen		6	9.7701	0.61412		158
Synonymous	-1.70	40	28.5	1.40	0.00000137	264
Loss of Function	2.31	0	6.24	0.00	3.45e-7	82

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	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25424902, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000305|PubMed:12962325}.
• Disease: DISEASE: Diamond-Blackfan anemia 16 (DBA16) [MIM:617408]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:25424902}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.163

Intolerance Scores

• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• pHI: 0.857
• hipred: Y
• hipred_score: 0.723
• ghis: 0.638

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Mouse Genome Informatics

• Gene name: Rpl27

Zebrafish Information Network

• Gene name: rpl27
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
• Cellular component: nucleus;cytosol;ribosome;focal adhesion;membrane;cytosolic large ribosomal subunit;extracellular exosome;cytoplasmic side of rough endoplasmic reticulum membrane;ribonucleoprotein complex
• Molecular function: RNA binding;structural constituent of ribosome;protein binding