MYRFL

myelin regulatory factor like

Basic information

Region (hg38): 12:69825227-69959097

Previous symbols: [ "C12orf15", "C12orf28" ]

Links

ENSG00000166268 ∙ NCBI:196446 ∙ ∙ HGNC:26316 ∙ Uniprot:Q96LU7 ∙ 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 MYRFL gene.

Variants pathogenicity by type

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

Variants in MYRFL

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

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

Position	Type	Phenotype	Significance	ClinVar
12-69880291-G-A			Likely benign (Dec 01, 2022)
12-69886875-C-T			Likely benign (Oct 01, 2022)
12-69936587-CAA-C			Uncertain significance (Feb 01, 2018)
12-69958513-C-T			Likely benign (Mar 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYRFL	protein_coding	protein_coding	ENST00000535034	9	133794

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.08e-9	0.171	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.785	99	124	0.801	0.00000633	1633
Missense in Polyphen		31	40.891	0.75812		560
Synonymous	1.24	30	40.0	0.750	0.00000196	443
Loss of Function	0.376	14	15.6	0.897	8.10e-7	192

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

Haploinsufficiency Scores

• pHI: 0.115

Essentials

• 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: Myrfl
• Phenotype: skeleton phenotype

Gene ontology

• Biological process: positive regulation of transcription, DNA-templated
• Cellular component: nucleus;cytoplasm;integral component of membrane
• Molecular function: DNA-binding transcription factor activity;sequence-specific DNA binding