RNASE9

ribonuclease A family member 9 (inactive), the group of Ribonuclease A family

Basic information

Region (hg38): 14:20556093-20561047

Links

ENSG00000188655 ∙ NCBI:390443 ∙ OMIM:614014 ∙ HGNC:20673 ∙ Uniprot:P60153 ∙ 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 RNASE9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE9 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in RNASE9

This is a list of pathogenic ClinVar variants found in the RNASE9 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-20556492-C-T		not specified	Uncertain significance (Jun 09, 2022)
14-20556504-G-C		not specified	Uncertain significance (Jan 04, 2024)
14-20556540-C-T		not specified	Uncertain significance (Jul 15, 2021)
14-20556541-G-A		not specified	Uncertain significance (Jun 29, 2022)
14-20556549-A-G		not specified	Uncertain significance (Aug 08, 2022)
14-20556577-G-A		not specified	Uncertain significance (Dec 09, 2023)
14-20556652-C-T		not specified	Uncertain significance (Mar 14, 2023)
14-20556739-C-T		not specified	Uncertain significance (Feb 10, 2022)
14-20556784-G-A		not specified	Uncertain significance (Mar 28, 2024)
14-20556807-A-C		not specified	Uncertain significance (Aug 20, 2024)
14-20556829-C-G		not specified	Uncertain significance (Oct 03, 2022)
14-20556855-T-C		not specified	Uncertain significance (Aug 12, 2021)
14-20556868-G-A		not specified	Uncertain significance (Sep 13, 2023)
14-20556891-G-C		not specified	Uncertain significance (Aug 01, 2022)
14-20556912-C-A		not specified	Uncertain significance (Jun 30, 2024)
14-20556918-A-C		not specified	Uncertain significance (Jan 23, 2024)
14-20556985-C-T		not specified	Uncertain significance (Aug 02, 2022)
14-20557051-T-A		not specified	Uncertain significance (Jun 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE9	protein_coding	protein_coding	ENST00000404716	2	4839

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.337	0.497	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.132	120	116	1.03	0.00000609	1388
Missense in Polyphen		38	30.984	1.2264		406
Synonymous	-0.297	46	43.5	1.06	0.00000260	379
Loss of Function	0.660	0	0.507	0.00	2.14e-8	6

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: Does not exhibit any ribonuclease activity. {ECO:0000269|PubMed:18992174, ECO:0000269|PubMed:19137000}.

Recessive Scores

• pRec: 0.0579

Intolerance Scores

• loftool: 0.951
• rvis_EVS: 1.73
• rvis_percentile_EVS: 96.51

Haploinsufficiency Scores

• pHI: 0.0503
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.123

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnase9
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: RNA phosphodiester bond hydrolysis
• Cellular component: extracellular region
• Molecular function: nucleic acid binding;ribonuclease activity