HROB

homologous recombination factor with OB-fold

Basic information

Region (hg38): 17:44141906-44162476

Previous symbols: [ "C17orf53" ]

Links

ENSG00000125319 ∙ NCBI:78995 ∙ OMIM:618611 ∙ HGNC:28460 ∙ Uniprot:Q8N3J3 ∙ 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 HROB gene.

• not_specified (3 variants)
• Ovarian_dysgenesis_11 (3 variants)
• Premature_ovarian_insufficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HROB gene is commonly pathogenic or not. These statistics are base on transcript: NM_001171251.3. 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						0
missense			3			3
nonsense	2					2
start loss						0
frameshift		1				1
splice donor/acceptor (+/-2bp)						0
Total	2	1	3	0	0

Highest pathogenic variant AF is 0.00000273623

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HROB	protein_coding	protein_coding	ENST00000319977	10	20571

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.45e-11	0.557	125707	0	40	125747	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.576	323	353	0.914	0.0000199	4171
Missense in Polyphen		56	85.269	0.65674		1022
Synonymous	-0.0817	139	138	1.01	0.00000752	1394
Loss of Function	1.34	20	27.6	0.725	0.00000160	294

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000388	0.000388
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0744

Intolerance Scores

• loftool: 0.924
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.43

Haploinsufficiency Scores

• pHI: 0.0402
• hipred: N
• hipred_score: 0.123
• ghis: 0.529

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: BC030867