RBM45

protein-coding

RNA binding motif protein 45, the group of RNA binding motif containing

Gene summary

This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]

MANE transcript

NM_152945.4

Inheritance

—

ClinVar variants

U:44B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.71

Max pathogenic AF

—

Genomic locus

chr2:178,112,424-178,139,011

External References & Databases

Ensembl (ENSG00000155636)

Transcript & Mutation Effects

hg38 • Region Span ~26.6 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 RBM45 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 38

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152945.4. 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		2 clinvar	3
missense			41 clinvar			41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	44	0	2	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152945.4	RefSeq	NP_694453.2	9	MANE Select
ENST00000286070.10	Ensembl	ENSP00000286070.5	9	MANE Select
NM_001365578.1	RefSeq	NP_001352507.1	9	Standard
NM_001365579.1	RefSeq	NP_001352508.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nervous system development
cell differentiation

Molecular Function

RNA binding
mRNA binding
protein binding

Cellular Component

nucleus
cytoplasm
ribonucleoprotein complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000286070
Coding exons: 9
Length: 26588
Individuals with no LoFs: 125669
Homozygous LoFs: 0
Heterozygous LoFs: 79
Defined: 125748
p: 0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.66	183	258	0.709	0.0000127	3105
Missense (PolyPhen)		46	70.072	0.65647		848
Synonymous	0.968	80	91.8	0.871	0.00000453	891
Loss of Function	1.41	19	26.9	0.706	0.00000174	298

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00028	0.00026	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00083	0.00071	rare
Finnish	0.00079	0.00079	rare
European (Non-Finnish)	0.00025	0.00024	rare
South Asian	0.00015	0.00013	rare
Other	0.00090	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: RNA-binding protein with binding specificity for poly(C). May play an important role in neural development. {ECO:0000250|UniProtKB:Q8CFD1, ECO:0000269|PubMed:12220514}.;

Recessive Scores

pRec: 0.114

Intolerance Scores

LoFtool: 0.620
RVIS EVS: -0.27
RVIS percentile EVS: 34.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.955

Gene Damage Prediction

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