REV1

REV1 DNA directed polymerase, the group of DNA polymerases

Basic information

Region (hg38): 2:99400475-99490035

Previous symbols: [ "REV1L" ]

Links

ENSG00000135945 ∙ NCBI:51455 ∙ OMIM:606134 ∙ HGNC:14060 ∙ Uniprot:Q9UBZ9 ∙ 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 REV1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REV1 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				1	1	2
missense			55	6	1	62
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	7	2

Variants in REV1

This is a list of pathogenic ClinVar variants found in the REV1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-99401333-C-G		not specified	Uncertain significance (Nov 18, 2022)
2-99402317-C-T		not specified	Uncertain significance (Jun 04, 2024)
2-99402341-T-C		not specified	Uncertain significance (Jun 16, 2024)
2-99402688-T-C		not specified	Likely benign (Dec 01, 2022)
2-99402692-A-C		not specified	Uncertain significance (Dec 12, 2022)
2-99402694-T-G		not specified	Uncertain significance (Mar 28, 2023)
2-99402758-T-C		not specified	Likely benign (Dec 07, 2021)
2-99402782-T-C		not specified	Uncertain significance (Jun 21, 2022)
2-99402793-A-T			Benign (Aug 05, 2018)
2-99402896-T-C		not specified	Uncertain significance (Jun 16, 2024)
2-99402898-C-G		not specified	Uncertain significance (Oct 02, 2023)
2-99403032-C-T		not specified	Likely benign (Dec 18, 2023)
2-99403085-T-C		not specified	Uncertain significance (Nov 17, 2023)
2-99403717-G-T		not specified	Uncertain significance (Nov 22, 2023)
2-99403746-T-C		not specified	Uncertain significance (Jan 26, 2023)
2-99403794-C-G		not specified	Uncertain significance (Dec 20, 2023)
2-99404456-T-C			Benign (Aug 05, 2018)
2-99404515-G-T		not specified	Uncertain significance (Jun 29, 2022)
2-99404620-C-T		not specified	Uncertain significance (Mar 26, 2024)
2-99404659-C-T		not specified	Uncertain significance (Nov 07, 2022)
2-99405980-T-C		not specified	Uncertain significance (Jun 16, 2023)
2-99406001-G-T		not specified	Uncertain significance (Dec 13, 2021)
2-99406014-C-G		not specified	Uncertain significance (Aug 02, 2021)
2-99406025-G-A		not specified	Uncertain significance (Jul 20, 2021)
2-99406058-C-G		not specified	Uncertain significance (Jun 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REV1	protein_coding	protein_coding	ENST00000258428	22	89560

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000110	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.60	536	651	0.823	0.0000320	8190
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000768	0.000435
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000108	0.000105
Middle Eastern	0.000768	0.000435
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: Fanconi anemia pathway - Homo sapiens (human);DNA Repair;Translesion synthesis by REV1;Translesion synthesis by POLK;Translesion synthesis by POLI;Termination of translesion DNA synthesis;Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template;DNA Damage Bypass (Consensus)

Intolerance Scores

• loftool: 0.544
• rvis_EVS: 0.06
• rvis_percentile_EVS: 57.55

Haploinsufficiency Scores

• pHI: 0.221
• hipred: Y
• hipred_score: 0.746
• ghis: 0.570

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.800

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rev1
• Phenotype: hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: DNA replication;response to UV;translesion synthesis;error-prone translesion synthesis
• Cellular component: nucleoplasm
• Molecular function: damaged DNA binding;protein binding;deoxycytidyl transferase activity;metal ion binding