RBM44

RNA binding motif protein 44, the group of RNA binding motif containing

Basic information

Region (hg38): 2:237798389-237842808

Links

ENSG00000177483 ∙ NCBI:375316 ∙ ∙ HGNC:24756 ∙ Uniprot:Q6ZP01 ∙ 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 RBM44 gene.

• not_specified (120 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM44 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001080504.3. 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				1		1
missense			107	12		119
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	107	13	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM44	protein_coding	protein_coding	ENST00000316997	14	44420

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00108	0.999	124582	0	27	124609	0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.260	467	483	0.967	0.0000225	6917
Missense in Polyphen		96	122.09	0.7863		1801
Synonymous	1.01	160	177	0.904	0.00000887	1887
Loss of Function	4.01	13	40.6	0.320	0.00000179	645

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000157	0.000157
Ashkenazi Jewish	0.000111	0.0000994
East Asian	0.000455	0.000445
Finnish	0.00	0.00
European (Non-Finnish)	0.0000919	0.0000885
Middle Eastern	0.000455	0.000445
South Asian	0.000100	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.934
• rvis_EVS: 0.34
• rvis_percentile_EVS: 73.68

Haploinsufficiency Scores

• pHI: 0.0842
• hipred: N
• hipred_score: 0.273

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0885

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm44
• Phenotype: reproductive system phenotype

Gene ontology

• Cellular component: cytoplasm;intercellular bridge
• Molecular function: RNA binding;protein homodimerization activity