RFX8

regulatory factor X8, the group of Regulatory factor X family

Basic information

Region (hg38): 2:101397359-101475112

Links

ENSG00000196460 ∙ NCBI:731220 ∙ ∙ HGNC:37253 ∙ Uniprot:Q6ZV50 ∙ 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 RFX8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RFX8 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		2
missense			27	5	1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	7	1

Variants in RFX8

This is a list of pathogenic ClinVar variants found in the RFX8 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-101397616-T-G		not specified	Uncertain significance (Jan 24, 2024)
2-101397667-G-C		not specified	Uncertain significance (Jan 23, 2024)
2-101397679-T-G		not specified	Uncertain significance (Aug 12, 2021)
2-101397687-C-T		not specified	Uncertain significance (Aug 13, 2021)
2-101402501-C-A		not specified	Uncertain significance (Apr 14, 2022)
2-101402501-C-T		not specified	Uncertain significance (Oct 13, 2023)
2-101402608-T-C		not specified	Uncertain significance (Dec 19, 2022)
2-101402633-C-A		not specified	Uncertain significance (Dec 03, 2021)
2-101402743-T-C		not specified	Uncertain significance (May 30, 2023)
2-101402747-A-G		not specified	Uncertain significance (Feb 10, 2023)
2-101405996-A-C		not specified	Uncertain significance (Nov 05, 2021)
2-101406009-G-T		not specified	Uncertain significance (Jan 04, 2022)
2-101412948-C-T		not specified	Uncertain significance (Apr 11, 2023)
2-101412957-G-A		not specified	Uncertain significance (Dec 12, 2023)
2-101412993-T-A		not specified	Uncertain significance (Dec 15, 2023)
2-101412995-C-G		not specified	Likely benign (Mar 07, 2023)
2-101412998-T-A		not specified	Uncertain significance (Mar 29, 2023)
2-101413001-T-C		not specified	Likely benign (Nov 05, 2021)
2-101413055-A-C		not specified	Uncertain significance (Oct 26, 2021)
2-101414878-C-G		not specified	Uncertain significance (Jan 03, 2024)
2-101417555-A-C			Likely benign (Apr 10, 2018)
2-101417570-C-T		not specified	Uncertain significance (Jan 16, 2024)
2-101418897-G-A			Benign (Apr 30, 2018)
2-101418948-G-C		not specified	Uncertain significance (Jul 20, 2021)
2-101418956-G-A			Likely benign (Aug 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RFX8	protein_coding	protein_coding	ENST00000428343	11	77343

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.32e-9	0.630	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	174	227	0.766	0.0000115	3103
Missense in Polyphen		31	46.557	0.66585		749
Synonymous	1.28	76	91.6	0.830	0.00000537	874
Loss of Function	1.25	16	22.4	0.714	0.00000124	287

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a transcription factor. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 3
• rvis_percentile_EVS: 99.21

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rfx8

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity