RHNO1

RAD9-HUS1-RAD1 interacting nuclear orphan 1

Basic information

Region (hg38): 12:2876258-2889524

Previous symbols: [ "C12orf32" ]

Links

ENSG00000171792

∙ NCBI:83695 ∙ OMIM:614085 ∙ HGNC:28206 ∙ Uniprot:Q9BSD3 ∙ 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 RHNO1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHNO1 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				1 clinvar		1
nonsense				1 clinvar		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in RHNO1

This is a list of pathogenic ClinVar variants found in the RHNO1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-2885388-C-T			Likely benign (Mar 05, 2018)	711715
12-2887992-C-T			Likely benign (Dec 31, 2019)	717229

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHNO1	protein_coding	protein_coding	ENST00000489288	2	13203

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00275	0.812	125364	2	382	125748	0.00153

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0186	127	128	0.995	0.00000636	1529
Missense in Polyphen		34	35.17	0.96672		449
Synonymous	0.329	46	48.9	0.940	0.00000234	486
Loss of Function	1.08	5	8.39	0.596	4.85e-7	94

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000695	0.000695
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00114	0.00114
Finnish	0.00425	0.00426
European (Non-Finnish)	0.00213	0.00211
Middle Eastern	0.00114	0.00114
South Asian	0.000270	0.000261
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role in DNA damage response (DDR) signaling upon genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation. {ECO:0000269|PubMed:21659603}.;
Pathway: HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;Gene expression (Transcription);DNA Double-Strand Break Repair;Generic Transcription Pathway;Homology Directed Repair;RNA Polymerase II Transcription;G2/M DNA damage checkpoint;G2/M Checkpoints;Cell Cycle Checkpoints;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Cell Cycle;Processing of DNA double-strand break ends;Presynaptic phase of homologous DNA pairing and strand exchange;Homologous DNA Pairing and Strand Exchange;HDR through Homologous Recombination (HRR) (Consensus)

Haploinsufficiency Scores

pHI: 0.102
hipred: N
hipred_score: 0.123
ghis: 0.461

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rhno1
Phenotype

Gene ontology

Biological process: DNA damage checkpoint;recombinational repair;cell cycle;cellular response to UV;positive regulation of G0 to G1 transition;cellular response to ionizing radiation
Cellular component: nucleus;nucleoplasm;chromosome
Molecular function: protein binding