HRURF

HR upstream open reading frame

Basic information

Region (hg38): 8:22130457-22131010

Links

ENSG00000288677 ∙ ∙ OMIM:619257 ∙ HGNC:55085 ∙ Uniprot:P0DUH7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

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 (1 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.

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	1				2
nonsense			1			1
start loss		1				1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			11		2	13
Total	1	2	12	0	2

Variants in HRURF

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

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

Position	Type	Phenotype	Significance	ClinVar
8-22130493-C-T		Atrichia with papular lesions • Alopecia universalis congenita	Uncertain significance (Jan 12, 2018)
8-22130523-G-A		Alopecia universalis congenita • Atrichia with papular lesions	Uncertain significance (Jan 13, 2018)
8-22130605-T-C		Hypotrichosis 4	Pathogenic (Feb 01, 2009)
8-22130635-G-A			Pathogenic (Nov 18, 2023)
8-22130635-G-C			Likely pathogenic (Jun 03, 2023)
8-22130636-G-C		Hypotrichosis 4	Pathogenic (Feb 01, 2009)
8-22130689-G-T			Uncertain significance (Aug 13, 2021)
8-22130702-G-A		Hypotrichosis 4	Pathogenic (Feb 01, 2009)
8-22130706-C-T		Hypotrichosis 4	Pathogenic (Mar 31, 2021)
8-22130707-A-G		Hypotrichosis 4	Pathogenic (Oct 01, 2010)
8-22130707-A-T			Pathogenic/Likely pathogenic (Jun 06, 2022)
8-22130713-C-T		Atrichia with papular lesions • Alopecia universalis congenita	Uncertain significance (Jan 12, 2018)
8-22130720-A-G		Alopecia universalis congenita • Atrichia with papular lesions	Benign (Jan 12, 2018)
8-22130767-G-A		Atrichia with papular lesions • Alopecia universalis congenita	Uncertain significance (Jan 13, 2018)
8-22130798-G-A		Atrichia with papular lesions • Alopecia universalis congenita	Uncertain significance (Jan 13, 2018)
8-22130826-T-C		Atrichia with papular lesions • Alopecia universalis congenita	Uncertain significance (Jan 12, 2018)
8-22130830-C-G		Alopecia universalis congenita • Atrichia with papular lesions	Uncertain significance (Jan 13, 2018)
8-22130856-G-A		Atrichia with papular lesions • Alopecia universalis congenita	Uncertain significance (Jan 13, 2018)
8-22130954-T-TAGAGCGCGGCGGAGAGCGCGGCGG		Atrichia with papular lesions • Alopecia universalis	Conflicting classifications of pathogenicity (Jan 01, 2023)
8-22130959-C-G		Alopecia universalis congenita • Atrichia with papular lesions	Uncertain significance (Apr 28, 2017)
8-22130986-G-A		Atrichia with papular lesions • Alopecia universalis congenita	Uncertain significance (Apr 27, 2017)
8-22131002-A-C		Alopecia universalis congenita • Atrichia with papular lesions	Benign (Jan 13, 2018)
8-22131008-A-G		Alopecia universalis congenita • Atrichia with papular lesions	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP