RBM27

RNA binding motif protein 27, the group of Zinc fingers CCCH-type|RNA binding motif containing

Basic information

Region (hg38): 5:146203604-146289223

Links

ENSG00000091009 ∙ NCBI:54439 ∙ OMIM:620082 ∙ HGNC:29243 ∙ Uniprot:Q9P2N5 ∙ 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 RBM27 gene.

• Inborn genetic diseases (29 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM27 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			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in RBM27

This is a list of pathogenic ClinVar variants found in the RBM27 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-146203773-T-C		not specified	Uncertain significance (Mar 14, 2023)
5-146203787-G-A		not specified	Uncertain significance (May 03, 2023)
5-146203827-G-A		RBM27-related disorder	Likely benign (Apr 29, 2020)
5-146223412-G-A		not specified	Uncertain significance (Feb 17, 2024)
5-146228957-G-T		not specified	Uncertain significance (Dec 28, 2022)
5-146229030-G-A		not specified	Uncertain significance (Aug 08, 2022)
5-146229728-A-G		not specified	Uncertain significance (Jul 12, 2023)
5-146229763-C-T		not specified	Uncertain significance (Jul 20, 2022)
5-146229787-T-G		not specified	Uncertain significance (May 31, 2023)
5-146229790-C-T		not specified	Uncertain significance (Dec 13, 2023)
5-146229847-C-G		not specified	Uncertain significance (Apr 12, 2022)
5-146229878-G-A		not specified	Uncertain significance (Dec 27, 2023)
5-146230669-G-T		not specified	Uncertain significance (May 31, 2023)
5-146230821-A-C		not specified	Uncertain significance (Apr 13, 2023)
5-146230852-A-G		not specified	Uncertain significance (Jan 26, 2022)
5-146233572-C-A		not specified	Uncertain significance (Dec 30, 2023)
5-146233599-C-T		not specified	Uncertain significance (Dec 03, 2021)
5-146233607-GCCAGGTCCAGGCCCAGGCCCGGGC-G		RBM27-related disorder	Likely benign (Feb 01, 2022)
5-146233628-G-A			Likely benign (Mar 01, 2023)
5-146233680-A-G		not specified	Uncertain significance (Feb 03, 2022)
5-146233680-A-T		RBM27-related disorder	Likely benign (Apr 11, 2022)
5-146233695-C-A		not specified	Uncertain significance (Oct 27, 2022)
5-146237333-C-T		not specified	Uncertain significance (Feb 27, 2024)
5-146237364-A-G		not specified	Uncertain significance (Sep 20, 2023)
5-146251752-G-C		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM27	protein_coding	protein_coding	ENST00000265271	21	135702

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000780	124569	0	27	124596	0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.48	405	572	0.708	0.0000303	6878
Missense in Polyphen		120	232.03	0.51717		2807
Synonymous	-0.732	208	195	1.07	0.00000941	2073
Loss of Function	6.59	7	63.9	0.110	0.00000410	697

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000140	0.0000648
Ashkenazi Jewish	0.000633	0.000298
East Asian	0.000131	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000282	0.000159
Middle Eastern	0.000131	0.0000556
South Asian	0.0000804	0.0000654
Other	0.000417	0.000165

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.240
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.36

Haploinsufficiency Scores

• pHI: 0.389
• hipred: Y
• hipred_score: 0.745
• ghis: 0.665

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.997

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm27

Gene ontology

• Biological process: mRNA processing;positive regulation of RNA export from nucleus
• Cellular component: nucleus;cytoplasm;nuclear speck
• Molecular function: RNA binding;mRNA binding;metal ion binding