HRURF

HR upstream open reading frame

Basic information

Region (hg38): 8:22130458-22131010

Links

ENSG00000288677

∙ ∙ OMIM:619257 ∙ HGNC:55085 ∙ Uniprot:P0DUH7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

hypotrichosis 4 (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hypotrichosis 4	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic	19122663; 20659777; 20814945

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HRURF gene.

not_provided (8 variants)
Hypotrichosis_4 (5 variants)
Alopecia_universalis_congenita (3 variants)
Atrichia_with_papular_lesions (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HRURF gene is commonly pathogenic or not. These statistics are base on transcript: NM_001394132.1. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense	2 clinvar	1 clinvar				3
nonsense	1 clinvar		3 clinvar			4
start loss	3	1				4
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	6	2	4	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP