RBM27

protein-coding

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

Gene summary

Enables RNA binding activity. Predicted to be involved in RNA catabolic process. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_018989.2

Inheritance

—

ClinVar variants

U:127B:5

Top phenotype

RBM27-related disorder

gnomAD constraint

pLI —, LoF o/e 0.11

Max pathogenic AF

—

Genomic locus

chr5:146,203,605-146,289,223

External References & Databases

Ensembl (ENSG00000091009)

Transcript & Mutation Effects

hg38 • Region Span ~85.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RBM27 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 118

RBM27-related disorderTotal: 5

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018989.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			119 clinvar	4 clinvar		123
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	127	5	0	132

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018989.2	RefSeq	NP_061862.1	21	MANE Select
ENST00000265271.7	Ensembl	ENSP00000265271.5	21	MANE Select
ENST00000861564.1	Ensembl	ENSP00000531623.1	20	Standard
ENST00000861564.2	Ensembl	ENSP00000531623.1	20	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mRNA processing
positive regulation of RNA export from nucleus

Molecular Function

RNA binding
mRNA binding
metal ion binding

Cellular Component

nucleus
cytoplasm
nuclear speck

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265271
Coding exons: 21
Length: 135702
Individuals with no LoFs: 124569
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 124596
p: 0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.48	405	572	0.708	0.0000303	6878
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.000065	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00063	0.00030	rare
East Asian	0.00013	0.000056	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00028	0.00016	rare
South Asian	0.000080	0.000065	rare
Other	0.00042	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.240
RVIS EVS: -0.84
RVIS percentile EVS: 11.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): K
Indispensability pred.: E
Indispensability score: 0.997

Gene Damage Prediction

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