RBMY1F

RNA binding motif protein Y-linked family 1 member F, the group of RNA binding motif containing

Basic information

Region (hg38): Y:22168542-22182982

Links

ENSG00000169800

∙ NCBI:159163 ∙ ∙ HGNC:23974 ∙ Uniprot:Q15415 ∙ 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 RBMY1F gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBMY1F gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBMY1F	protein_coding	protein_coding	ENST00000303766	11	14441

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.296	0.501	0	0	0	0	0.00

	Z-Score	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.524	2.18	0.00	2.93e-7	3227
Missense in Polyphen		0.89996	0		927
Synonymous	0.646	0.675	0.00	9.07e-8	970
Loss of Function	0.357	0.149	0.00	1.97e-8	285

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis. {ECO:0000269|PubMed:8269511}.;

Haploinsufficiency Scores

pHI: 0.132
hipred
hipred_score
ghis: 0.420

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.0879

Gene ontology

Biological process: regulation of alternative mRNA splicing, via spliceosome;spermatogenesis;mRNA cis splicing, via spliceosome
Cellular component: cellular_component;nucleus;nuclear speck
Molecular function: RNA binding;mRNA binding;protein binding;identical protein binding