RBM48

RNA binding motif protein 48, the group of RNA binding motif containing

Basic information

Region (hg38): 7:92528773-92540481

Previous symbols: [ "C7orf64" ]

Links

ENSG00000127993 ∙ NCBI:84060 ∙ ∙ HGNC:21785 ∙ Uniprot:Q5RL73 ∙ 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 RBM48 gene.

• not_specified (47 variants)
• not_provided (27 variants)
• Nephronophthisis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM48 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032120.4. 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				4	2	6
missense		1	54	3	1	59
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	1	55	7	3

Highest pathogenic variant AF is 0.000017347644

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM48	protein_coding	protein_coding	ENST00000265732	5	9233

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.53e-7	0.403	124744	0	51	124795	0.000204

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.322	188	201	0.936	0.0000103	2397
Missense in Polyphen		38	50.47	0.75293		612
Synonymous	0.157	71	72.7	0.977	0.00000383	691
Loss of Function	0.705	12	14.9	0.803	7.18e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000324	0.000323
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.0000557	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000386	0.000335
Middle Eastern	0.0000557	0.0000556
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0986

Intolerance Scores

• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm48

Gene ontology

• Cellular component: nucleoplasm
• Molecular function: RNA binding