XRRA1

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			130 clinvar	12 clinvar		142
nonsense			4 clinvar			4
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	139	14	0	153

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 79 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001378157.1	RefSeq	NP_001365086.1	17	MANE Select
ENST00000684022.1	Ensembl	ENSP00000507107.1	17	MANE Select
NM_001270380.3	RefSeq	NP_001257309.1	13	Standard
NM_001270381.3	RefSeq	NP_001257310.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to X-ray

Molecular Function

molecular_function

Cellular Component

nucleus
nucleoplasm
cytoplasm
nuclear body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340360
Coding exons: 17
Length: 141462
Individuals with no LoFs: 124512
Homozygous LoFs: 2
Heterozygous LoFs: 223
Defined: 124737
p: 0.000902

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0319	441	439	1.00	0.0000250	5111
Missense (PolyPhen)		143	138.79	1.0303		1742
Synonymous	1.79	147	177	0.829	0.00000982	1586
Loss of Function	2.58	19	35.6	0.534	0.00000175	458

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0.012	0.012	notable
East Asian	0.00056	0.00056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00045	0.00044	rare
South Asian	0.00092	0.00085	rare
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the response of cells to X-ray radiation. {ECO:0000269|PubMed:12908878}.;

Recessive Scores

pRec: 0.0771

Intolerance Scores

LoFtool: 0.965
RVIS EVS: 1.72
RVIS percentile EVS: 96.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0195

Gene Damage Prediction

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