MYMK

myomaker, myoblast fusion factor, the group of TMEM8 family

Basic information

Region (hg38): 9:133514586-133528612

Previous symbols: [ "TMEM8C" ]

Links

ENSG00000187616 ∙ NCBI:389827 ∙ OMIM:615345 ∙ HGNC:33778 ∙ Uniprot:A6NI61 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Carey-Fineman-Ziter syndrome (Strong), mode of inheritance: AR
• Carey-Fineman-Ziter syndrome (Strong), mode of inheritance: AR
• Carey-Fineman-Ziter syndrome (Supportive), mode of inheritance: AR
• Carey-Fineman-Ziter syndrome 1 (Strong), mode of inheritance: AR
• Carey-Fineman-Ziter syndrome (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Carey-Fineman-Ziter syndrome 1	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Musculoskeletal	28681861; 29560417

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYMK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYMK 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				9	3	12
missense		3	18			21
nonsense						0
start loss						0
frameshift			2			2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2	1	1	4
non coding					12	12
Total	0	3	20	9	15

Variants in MYMK

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

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

Position	Type	Phenotype	Significance	ClinVar
9-133514660-G-A			Likely benign (Jan 01, 2019)
9-133514687-C-T			Benign (Dec 31, 2019)
9-133514688-G-A		Inborn genetic diseases	Uncertain significance (Jun 06, 2021)
9-133514737-T-C		Inborn genetic diseases	Uncertain significance (May 17, 2023)
9-133514749-A-G		Congenital nonprogressive myopathy with Moebius and Robin sequences	Pathogenic (Jan 07, 2019)
9-133514760-C-G		Inborn genetic diseases	Uncertain significance (Dec 21, 2022)
9-133514760-C-T		MYMK-related disorder	Uncertain significance (May 26, 2023)
9-133514767-C-T		Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Jan 16, 2020)
9-133514768-A-G		Congenital nonprogressive myopathy with Moebius and Robin sequences	Benign (Sep 10, 2021)
9-133514789-C-T		Inborn genetic diseases	Likely benign (May 06, 2022)
9-133514954-A-C			Benign (May 15, 2021)
9-133514993-A-C			Benign (May 15, 2021)
9-133515501-A-C		Inborn genetic diseases	Uncertain significance (Aug 08, 2023)
9-133515521-C-G			Likely benign (May 01, 2024)
9-133515524-C-CTGGG		Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Nov 16, 2020)
9-133515526-C-G		Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Jun 04, 2019)
9-133515527-G-A			Likely benign (Dec 31, 2019)
9-133515539-G-A			Likely benign (Jun 06, 2018)
9-133515546-A-G		Congenital nonprogressive myopathy with Moebius and Robin sequences	Pathogenic (Jul 19, 2017)
9-133515579-A-G		Carey-Fineman-Ziter syndrome 1	Uncertain significance (Jun 28, 2024)
9-133515589-T-G		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
9-133518513-T-C			Benign (Dec 19, 2019)
9-133518847-G-C			Benign (May 25, 2021)
9-133518869-C-T		Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Oct 16, 2019)
9-133518908-A-G			Uncertain significance (Feb 27, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYMK	protein_coding	protein_coding	ENST00000339996	5	14027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000178	0.716	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.761	119	145	0.822	0.00000895	1434
Missense in Polyphen		40	53.917	0.74188		498
Synonymous	0.204	64	66.1	0.968	0.00000481	454
Loss of Function	0.936	7	10.2	0.684	5.24e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000333	0.000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000218	0.000217
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction. Associates with MYMX to promote myoblast fusion. {ECO:0000269|PubMed:28681861}.
• Disease: DISEASE: Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940]: An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive. {ECO:0000269|PubMed:28681861}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Intolerance Scores

• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.337
• ghis: 0.424

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mymk
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); skeleton phenotype; muscle phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: mymk
• Affected structure: fast muscle myoblast
• Phenotype tag: abnormal
• Phenotype quality: nucleate quality

Gene ontology

• Biological process: muscle organ development;myoblast fusion;myoblast fusion involved in skeletal muscle regeneration;plasma membrane fusion
• Cellular component: plasma membrane;integral component of membrane