REPIN1

replication initiator 1, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:150368188-150374044

Previous symbols: [ "ZNF464" ]

Links

ENSG00000214022 ∙ NCBI:29803 ∙ OMIM:619039 ∙ HGNC:17922 ∙ Uniprot:Q9BWE0 ∙ 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 REPIN1 gene.

• Inborn genetic diseases (28 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REPIN1 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
missense			28			28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	1	0

Variants in REPIN1

This is a list of pathogenic ClinVar variants found in the REPIN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150369736-C-G		not specified	Uncertain significance (Apr 05, 2023)
7-150369797-G-C		not specified	Uncertain significance (Jul 14, 2021)
7-150369808-C-A		not specified	Uncertain significance (Nov 20, 2023)
7-150369842-C-T		not specified	Uncertain significance (Mar 02, 2023)
7-150371299-C-T		not specified	Uncertain significance (Dec 09, 2023)
7-150371342-A-C		not specified	Uncertain significance (Dec 16, 2023)
7-150371485-C-T		not specified	Uncertain significance (Nov 08, 2022)
7-150371543-C-G		not specified	Uncertain significance (Oct 12, 2021)
7-150371561-A-G		not specified	Uncertain significance (Feb 28, 2023)
7-150371594-G-A		not specified	Uncertain significance (May 27, 2022)
7-150371723-G-T		not specified	Uncertain significance (Jul 14, 2021)
7-150371753-C-T		not specified	Uncertain significance (Oct 12, 2021)
7-150371759-A-G		not specified	Uncertain significance (Jul 09, 2021)
7-150371779-G-A		not specified	Uncertain significance (Oct 06, 2021)
7-150371956-G-A		not specified	Uncertain significance (Nov 27, 2023)
7-150372004-C-A		not specified	Uncertain significance (Feb 22, 2023)
7-150372091-C-T		not specified	Uncertain significance (Dec 03, 2021)
7-150372199-T-G		not specified	Uncertain significance (Sep 16, 2021)
7-150372218-G-A		not specified	Uncertain significance (Aug 17, 2022)
7-150372233-A-C		not specified	Uncertain significance (Aug 10, 2021)
7-150372269-C-G		not specified	Uncertain significance (Aug 11, 2022)
7-150372293-C-A		not specified	Uncertain significance (Nov 18, 2022)
7-150372324-A-C			Likely benign (Apr 01, 2023)
7-150372331-C-G		not specified	Uncertain significance (Aug 19, 2021)
7-150372356-C-G		not specified	Uncertain significance (Jul 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REPIN1	protein_coding	protein_coding	ENST00000489432	2	5856

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0947	0.905	125279	0	14	125293	0.0000559

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.43	295	438	0.673	0.0000337	3912
Missense in Polyphen		115	224.5	0.51225		1965
Synonymous	1.15	172	192	0.895	0.0000147	1338
Loss of Function	3.16	6	22.0	0.273	0.00000149	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000870
Ashkenazi Jewish	0.000102	0.0000993
East Asian	0.00	0.00
Finnish	0.000112	0.0000927
European (Non-Finnish)	0.0000627	0.0000617
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5'-ATT-3' reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending.

Intolerance Scores

• loftool: 0.482
• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.79

Haploinsufficiency Scores

• pHI: 0.621
• hipred: Y
• hipred_score: 0.572
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.915

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Repin1
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: DNA replication
• Cellular component: nucleus;nuclear origin of replication recognition complex
• Molecular function: DNA binding;RNA binding;metal ion binding