RBM45

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

Basic information

Region (hg38): 2:178112424-178139011

Links

ENSG00000155636 ∙ NCBI:129831 ∙ OMIM:608888 ∙ HGNC:24468 ∙ Uniprot:Q8IUH3 ∙ 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 RBM45 gene.

• not_specified (30 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM45 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152945.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			30			30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	0	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM45	protein_coding	protein_coding	ENST00000286070	9	26588

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.11e-10	0.654	125669	0	79	125748	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	183	258	0.709	0.0000127	3105
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000399	0.000399
Ashkenazi Jewish	0.000202	0.000198
East Asian	0.000833	0.000707
Finnish	0.000788	0.000786
European (Non-Finnish)	0.000245	0.000237
Middle Eastern	0.000833	0.000707
South Asian	0.000150	0.000131
Other	0.000903	0.000815

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.100
• hipred: Y
• hipred_score: 0.563
• ghis: 0.634

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.955

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm45

Gene ontology

• Biological process: nervous system development;cell differentiation
• Cellular component: nucleus;cytoplasm;ribonucleoprotein complex
• Molecular function: RNA binding;mRNA binding;protein binding