REV1

protein-coding

REV1 DNA directed polymerase, the group of DNA polymerases

Gene summary

This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]

Previous symbols:

REV1L

MANE transcript

NM_016316.4

Inheritance

—

ClinVar variants

U:160B:14

Top phenotype

Preeclampsia

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr2:99,400,475-99,490,035

External References & Databases

Ensembl (ENSG00000135945)

Transcript & Mutation Effects

hg38 • Region Span ~89.6 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to REV1 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 158

not providedTotal: 4

PreeclampsiaTotal: 1

Large for gestational ageTotal: 1

Normal pregnancyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016316.4. Only rare variants are included.

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			1 clinvar	2 clinvar	1 clinvar	4
missense			149 clinvar	10 clinvar	1 clinvar	160
nonsense			2 clinvar			2
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	160	12	2	174

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 73 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016316.4	RefSeq	NP_057400.1	22	MANE Select
ENST00000258428.8	Ensembl	ENSP00000258428.3	22	MANE Select
NM_001037872.3	RefSeq	NP_001032961.1	22	Standard
NM_001321454.2	RefSeq	NP_001308383.1	23	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Fanconi anemia pathway - Homo sapiens (human)
DNA Repair
Translesion synthesis by REV1
Translesion synthesis by POLK
Translesion synthesis by POLI

Biological Process

DNA replication
response to UV
translesion synthesis
error-prone translesion synthesis

Molecular Function

damaged DNA binding
protein binding
deoxycytidyl transferase activity
metal ion binding

Cellular Component

nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000258428
Coding exons: 22
Length: 89560
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125748
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.60	536	651	0.823	0.0000320	8190
Missense (PolyPhen)		128	211.76	0.60445		2734
Synonymous	0.110	233	235	0.991	0.0000124	2392
Loss of Function	6.30	8	61.2	0.131	0.00000326	750

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00077	0.00044	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents. {ECO:0000269|PubMed:10536157, ECO:0000269|PubMed:10760286, ECO:0000269|PubMed:11278384, ECO:0000269|PubMed:11485998, ECO:0000269|PubMed:22266823}.;

Intolerance Scores

LoFtool: 0.544
RVIS EVS: 0.06
RVIS percentile EVS: 57.55

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): H
Indispensability pred.: E
Indispensability score: 0.800

Gene Damage Prediction

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