RESF1

retroelement silencing factor 1, the group of Minor histocompatibility antigens

Basic information

Region (hg38): 12:31959370-31993107

Previous symbols: [ "C12orf35", "KIAA1551" ]

Links

ENSG00000174718 ∙ NCBI:55196 ∙ OMIM:615621 ∙ HGNC:25559 ∙ Uniprot:Q9HCM1 ∙ 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 RESF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RESF1 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				2	1	3
missense			105	14	2	121
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	105	16	3

Variants in RESF1

This is a list of pathogenic ClinVar variants found in the RESF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-31981038-T-C		not specified	Uncertain significance (Feb 12, 2024)
12-31981110-A-G		not specified	Uncertain significance (Jul 09, 2021)
12-31981112-C-A		not specified	Uncertain significance (Aug 08, 2022)
12-31981173-T-C		not specified	Uncertain significance (Oct 17, 2023)
12-31981223-G-A		not specified	Uncertain significance (Jul 12, 2023)
12-31981273-C-G		not specified	Uncertain significance (Sep 13, 2023)
12-31981289-T-C		not specified	Uncertain significance (May 18, 2023)
12-31981359-C-T		not specified	Uncertain significance (Mar 20, 2024)
12-31981365-C-G		not specified	Uncertain significance (Dec 16, 2022)
12-31981382-G-A		not specified	Uncertain significance (Jul 30, 2023)
12-31981391-G-A		not specified	Uncertain significance (Jan 24, 2024)
12-31981394-C-T			Benign (Jan 30, 2018)
12-31981404-C-T		not specified	Uncertain significance (Jan 23, 2024)
12-31981416-G-A		not specified	Likely benign (Aug 22, 2023)
12-31981434-A-G		not specified	Uncertain significance (Aug 13, 2021)
12-31981446-T-C		not specified	Uncertain significance (Apr 26, 2024)
12-31981467-C-A		not specified	Uncertain significance (May 30, 2024)
12-31981712-G-A		not specified	Uncertain significance (Mar 30, 2024)
12-31981724-C-T		not specified	Uncertain significance (Jun 08, 2022)
12-31981767-C-T		not specified	Likely benign (Apr 25, 2023)
12-31981794-C-G		not specified	Uncertain significance (Sep 30, 2021)
12-31981794-C-T		not specified	Uncertain significance (Oct 04, 2022)
12-31981836-C-T		not specified	Uncertain significance (Apr 12, 2024)
12-31981872-C-T		not specified	Uncertain significance (May 15, 2023)
12-31981911-G-A		not specified	Uncertain significance (Nov 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RESF1	protein_coding	protein_coding	ENST00000312561	3	33736

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00929	0.991	123446	0	1	123447	0.00000405

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.79	1005	857	1.17	0.0000408	11522
Missense in Polyphen		190	188.79	1.0064		2927
Synonymous	-1.52	349	315	1.11	0.0000161	3264
Loss of Function	5.23	16	59.6	0.268	0.00000288	819

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000891	0.00000891
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: 2.85
• rvis_percentile_EVS: 99.12

Haploinsufficiency Scores

• pHI: 0.0996
• hipred: N
• hipred_score: 0.233
• ghis: 0.439

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Resf1