MYMK (myomaker, myoblast fusion factor) - Rat Genome Database

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Gene: MYMK (myomaker, myoblast fusion factor) Homo sapiens
Analyze
Symbol: MYMK
Name: myomaker, myoblast fusion factor
RGD ID: 3302829
HGNC Page HGNC:33778
Description: Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: M83-like; myoblast fusion maker; myomaker; TMEM226; TMEM8C; transmembrane protein 226; transmembrane protein 8-like; transmembrane protein 8C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389133,514,586 - 133,524,959 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9133,514,586 - 133,528,612 (-)EnsemblGRCh38hg38GRCh38
GRCh379136,379,708 - 136,390,081 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369135,369,579 - 135,379,787 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map9q34.2NCBI
HuRef9105,880,949 - 105,891,314 (-)NCBIHuRef
CHM1_19136,529,867 - 136,540,211 (-)NCBICHM1_1
T2T-CHM13v2.09145,728,593 - 145,738,968 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Golgi apparatus  (IEA)
Golgi membrane  (IEA,ISS)
membrane  (IEA)
plasma membrane  (IDA,IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abducens palsy  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormality of the larynx  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the pectoralis major muscle  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the tongue  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bowel irritability  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Cataract  (IAGP)
Cerebral calcification  (IAGP)
Cleft palate  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fetal movement  (IAGP)
Depressed nasal bridge  (IAGP)
Distal muscle weakness  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysphagia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Epicanthus  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Glandular hypospadias  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
Growth delay  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hypertensive crisis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the musculature  (IAGP)
Hypotonia  (IAGP)
Impaired ocular abduction  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Juvenile onset  (IAGP)
Lagophthalmos  (IAGP)
Laryngeal stenosis  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Microcephaly  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Myopathy  (IAGP)
Oculomotor nerve palsy  (IAGP)
Ophthalmoplegia  (IAGP)
Pectoralis hypoplasia  (IAGP)
Pierre-Robin sequence  (IAGP)
Plagiocephaly  (IAGP)
Proximal muscle weakness  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Spinal rigidity  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Thin vermilion border  (IAGP)
Trismus  (IAGP)
Ulnar deviation of finger  (IAGP)
Ventriculomegaly  (IAGP)
Weakness of facial musculature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:21873635   PMID:28681861   PMID:29560417   PMID:31642939   PMID:34288723  


Genomics

Comparative Map Data
MYMK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389133,514,586 - 133,524,959 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9133,514,586 - 133,528,612 (-)EnsemblGRCh38hg38GRCh38
GRCh379136,379,708 - 136,390,081 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369135,369,579 - 135,379,787 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map9q34.2NCBI
HuRef9105,880,949 - 105,891,314 (-)NCBIHuRef
CHM1_19136,529,867 - 136,540,211 (-)NCBICHM1_1
T2T-CHM13v2.09145,728,593 - 145,738,968 (-)NCBIT2T-CHM13v2.0
Mymk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39226,951,648 - 26,962,173 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl226,951,648 - 26,962,191 (-)EnsemblGRCm39 Ensembl
GRCm38227,061,636 - 27,072,161 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl227,061,636 - 27,072,179 (-)EnsemblGRCm38mm10GRCm38
MGSCv37226,917,156 - 26,927,681 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36226,883,682 - 26,894,170 (-)NCBIMGSCv36mm8
Celera226,764,277 - 26,775,219 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map219.21NCBI
Mymk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8330,786,443 - 30,795,374 (-)NCBIGRCr8
mRatBN7.2310,388,363 - 10,397,294 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl310,388,361 - 10,397,343 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx313,453,976 - 13,462,907 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0322,039,374 - 22,048,305 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0320,294,674 - 20,303,605 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.035,608,243 - 5,617,689 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl35,608,243 - 5,617,225 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0310,970,626 - 10,979,608 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.435,957,947 - 5,966,929 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.135,958,805 - 5,967,234 (-)NCBI
Celera35,186,642 - 5,195,624 (-)NCBICelera
Cytogenetic Map3p12NCBI
Mymk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555132,833,234 - 2,842,325 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555132,835,466 - 2,842,325 (-)NCBIChiLan1.0ChiLan1.0
MYMK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2115,808,338 - 5,838,538 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan195,810,674 - 5,840,870 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09104,638,011 - 104,668,204 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19133,248,761 - 133,259,631 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9133,248,761 - 133,259,631 (-)Ensemblpanpan1.1panPan2
MYMK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1949,905,580 - 49,919,849 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl949,907,228 - 49,921,007 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha949,188,745 - 49,200,929 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0950,781,759 - 50,793,959 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl950,781,326 - 50,791,690 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1949,543,510 - 49,555,688 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0949,885,340 - 49,897,530 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0949,963,490 - 49,975,710 (-)NCBIUU_Cfam_GSD_1.0
Mymk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947199,961,922 - 199,970,359 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366693,404,704 - 3,413,136 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366693,404,729 - 3,413,123 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYMK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1273,101,678 - 273,111,727 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11273,101,674 - 273,111,721 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21307,075,501 - 307,086,445 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYMK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1124,611,952 - 4,623,373 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl124,612,268 - 4,622,381 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666058366,360 - 377,331 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mymk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247601,934,699 - 1,941,149 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247601,934,223 - 1,941,176 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYMK
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.2(chr9:133504071-133777922)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052259]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052259]|See cases [RCV000052259] Chr9:133504071..133777922 [GRCh38]
Chr9:136324358..136643044 [GRCh37]
Chr9:135314179..135632865 [NCBI36]
Chr9:9q34.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
NM_001080483.2(TMEM8C):c.136-2179C>T single nucleotide variant Lung cancer [RCV000108187] Chr9:133522467 [GRCh38]
Chr9:136387589 [GRCh37]
Chr9:9q34.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001080483.3(MYMK):c.481G>C (p.Gly161Arg) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001270899] Chr9:133515526 [GRCh38]
Chr9:136380648 [GRCh37]
Chr9:9q34.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_001080483.3(MYMK):c.2T>A (p.Met1Lys) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495944] Chr9:133524843 [GRCh38]
Chr9:136389965 [GRCh37]
Chr9:9q34.2		 pathogenic
NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495947] Chr9:133514749 [GRCh38]
Chr9:136379871 [GRCh37]
Chr9:9q34.2		 pathogenic
NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495951]|See cases [RCV002252140] Chr9:133518975 [GRCh38]
Chr9:136384097 [GRCh37]
Chr9:9q34.2		 pathogenic|likely pathogenic
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) single nucleotide variant Carey-Fineman-Ziter syndrome 1 [RCV003147484]|Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495954]|MYMK-related condition [RCV003424047]|not provided [RCV001575718] Chr9:133519002 [GRCh38]
Chr9:136384124 [GRCh37]
Chr9:9q34.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495946] Chr9:133515546 [GRCh38]
Chr9:136380668 [GRCh37]
Chr9:9q34.2		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3		 drug response
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.2(chr9:136310908-136452144)x1 copy number loss not provided [RCV000748743] Chr9:136310908..136452144 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9q34.2(chr9:136351927-136402067)x3 copy number gain not provided [RCV000748744] Chr9:136351927..136402067 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001080483.3(MYMK):c.253C>T (p.Leu85=) single nucleotide variant not provided [RCV000963929] Chr9:133519020 [GRCh38]
Chr9:136384142 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.642C>T (p.Ser214=) single nucleotide variant not provided [RCV000982722] Chr9:133514660 [GRCh38]
Chr9:136379782 [GRCh37]
Chr9:9q34.2		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001080483.3(MYMK):c.219G>A (p.Gly73=) single nucleotide variant not provided [RCV000970202] Chr9:133520205 [GRCh38]
Chr9:136385327 [GRCh37]
Chr9:9q34.2		 benign|likely benign
NM_001080483.3(MYMK):c.480C>T (p.Phe160=) single nucleotide variant not provided [RCV000942341] Chr9:133515527 [GRCh38]
Chr9:136380649 [GRCh37]
Chr9:9q34.2		 likely benign
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_001080483.3(MYMK):c.165G>C (p.Leu55Phe) single nucleotide variant Inborn genetic diseases [RCV003240637] Chr9:133520259 [GRCh38]
Chr9:136385381 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.253C>A (p.Leu85Met) single nucleotide variant Inborn genetic diseases [RCV003239778] Chr9:133519020 [GRCh38]
Chr9:136384142 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.-49T>C single nucleotide variant not provided [RCV001688820] Chr9:133524893 [GRCh38]
Chr9:136390015 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.135+179A>G single nucleotide variant not provided [RCV001620131] Chr9:133524531 [GRCh38]
Chr9:136389653 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.190G>A (p.Asp64Asn) single nucleotide variant not provided [RCV001551885] Chr9:133520234 [GRCh38]
Chr9:136385356 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.251-18T>C single nucleotide variant not provided [RCV001541252] Chr9:133519040 [GRCh38]
Chr9:136384162 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.399+27C>G single nucleotide variant not provided [RCV001617544] Chr9:133518847 [GRCh38]
Chr9:136383969 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.267C>T (p.Asp89=) single nucleotide variant not provided [RCV000930226] Chr9:133519006 [GRCh38]
Chr9:136384128 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.348G>C (p.Gly116=) single nucleotide variant not provided [RCV000930019] Chr9:133518925 [GRCh38]
Chr9:136384047 [GRCh37]
Chr9:9q34.2		 likely benign
NM_001080483.3(MYMK):c.615G>A (p.Pro205=) single nucleotide variant not provided [RCV000918491] Chr9:133514687 [GRCh38]
Chr9:136379809 [GRCh37]
Chr9:9q34.2		 benign
NC_000009.11:g.(?_135771602)_(136769889_?)dup duplication Tuberous sclerosis 1 [RCV001033460] Chr9:135771602..136769889 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_001080483.3(MYMK):c.468C>T (p.Pro156=) single nucleotide variant not provided [RCV000890513] Chr9:133515539 [GRCh38]
Chr9:136380661 [GRCh37]
Chr9:9q34.2		 likely benign
NM_001080483.3(MYMK):c.300C>T (p.Gly100=) single nucleotide variant not provided [RCV000933960] Chr9:133518973 [GRCh38]
Chr9:136384095 [GRCh37]
Chr9:9q34.2		 likely benign
NM_001080483.3(MYMK):c.517-4G>A single nucleotide variant not provided [RCV000890572] Chr9:133514789 [GRCh38]
Chr9:136379911 [GRCh37]
Chr9:9q34.2		 likely benign
NC_000009.11:g.(?_135771850)_(137038881_?)dup duplication Tuberous sclerosis 1 [RCV001033564] Chr9:135771850..137038881 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_001080483.3(MYMK):c.517-169T>G single nucleotide variant not provided [RCV001710286] Chr9:133514954 [GRCh38]
Chr9:136380076 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.399+361A>G single nucleotide variant not provided [RCV001680121] Chr9:133518513 [GRCh38]
Chr9:136383635 [GRCh37]
Chr9:9q34.2		 benign
NC_000009.12:g.133524994T>G single nucleotide variant not provided [RCV001665632] Chr9:133524994 [GRCh38]
Chr9:136390116 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.517-208T>G single nucleotide variant not provided [RCV001611094] Chr9:133514993 [GRCh38]
Chr9:136380115 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.136-27T>C single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001838702]|not provided [RCV001611502] Chr9:133520315 [GRCh38]
Chr9:136385437 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.135+81T>G single nucleotide variant not provided [RCV001648472] Chr9:133524629 [GRCh38]
Chr9:136389751 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.399+5G>A single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001004946]|not provided [RCV001766821] Chr9:133518869 [GRCh38]
Chr9:136383991 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001089958] Chr9:133518968 [GRCh38]
Chr9:136384090 [GRCh37]
Chr9:9q34.2		 likely pathogenic
NM_001080483.3(MYMK):c.242C>T (p.Ser81Leu) single nucleotide variant not provided [RCV001549477] Chr9:133520182 [GRCh38]
Chr9:136385304 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs) insertion Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001267695] Chr9:133515524..133515525 [GRCh38]
Chr9:136380646..136380647 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.162del (p.Leu55fs) deletion Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001333720] Chr9:133520262 [GRCh38]
Chr9:136385384 [GRCh37]
Chr9:9q34.2		 pathogenic
NM_001080483.3(MYMK):c.535G>A (p.Val179Ile) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001332769] Chr9:133514767 [GRCh38]
Chr9:136379889 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.534T>C (p.Tyr178=) single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001838682]|not provided [RCV001537062] Chr9:133514768 [GRCh38]
Chr9:136379890 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.136-144C>T single nucleotide variant not provided [RCV001619287] Chr9:133520432 [GRCh38]
Chr9:136385554 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.136-43T>C single nucleotide variant Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001838753]|not provided [RCV001669715] Chr9:133520331 [GRCh38]
Chr9:136385453 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.250+208T>G single nucleotide variant not provided [RCV001681263] Chr9:133519966 [GRCh38]
Chr9:136385088 [GRCh37]
Chr9:9q34.2		 benign
NM_001080483.3(MYMK):c.365T>C (p.Ile122Thr) single nucleotide variant not provided [RCV001771319] Chr9:133518908 [GRCh38]
Chr9:136384030 [GRCh37]
Chr9:9q34.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_135139626)_(140034216_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] Chr9:135139626..140034216 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122719] Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3		 uncertain significance
NM_001080483.3(MYMK):c.8C>T (p.Thr3Met) single nucleotide variant Carey-Fineman-Ziter syndrome 1 [RCV003132789]|MYMK-related condition [RCV003906659] Chr9:133524837 [GRCh38]
Chr9:136389959 [GRCh37]
Chr9:9q34.2		 benign|uncertain significance
NM_001080483.3(MYMK):c.565A>G (p.Met189Val) single nucleotide variant Inborn genetic diseases [RCV003262985] Chr9:133514737 [GRCh38]
Chr9:136379859 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.506T>G (p.Phe169Cys) single nucleotide variant Inborn genetic diseases [RCV003356250] Chr9:133515501 [GRCh38]
Chr9:136380623 [GRCh37]
Chr9:9q34.2		 uncertain significance
GRCh37/hg19 9q34.2(chr9:136378366-136726628)x3 copy number gain not provided [RCV003484785] Chr9:136378366..136726628 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.542G>A (p.Ser181Asn) single nucleotide variant MYMK-related condition [RCV003399973] Chr9:133514760 [GRCh38]
Chr9:136379882 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.159del (p.Gly54fs) deletion not provided [RCV003443271] Chr9:133520265 [GRCh38]
Chr9:136385387 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001080483.3(MYMK):c.243G>A (p.Ser81=) single nucleotide variant not provided [RCV003430375] Chr9:133520181 [GRCh38]
Chr9:136385303 [GRCh37]
Chr9:9q34.2		 likely benign
NM_001080483.3(MYMK):c.159C>T (p.Pro53=) single nucleotide variant not provided [RCV003884920] Chr9:133520265 [GRCh38]
Chr9:136385387 [GRCh37]
Chr9:9q34.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:760
Count of miRNA genes:551
Interacting mature miRNAs:606
Transcripts:ENST00000339996, ENST00000413714
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D9S1268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,385,959 - 136,386,093UniSTSGRCh37
Build 369135,375,780 - 135,375,914RGDNCBI36
Cytogenetic Map9q34.2UniSTS
HuRef9105,887,200 - 105,887,334UniSTS
D9S1311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,386,866 - 136,387,019UniSTSGRCh37
Build 369135,376,687 - 135,376,840RGDNCBI36
Cytogenetic Map9q34.2UniSTS
HuRef9105,888,107 - 105,888,260UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 1 16 9 10 2 16
Low 11 11 61 19 31 14 620 142 644 55 202 133 8 1 8 604
Below cutoff 565 767 857 233 396 192 1474 785 1863 184 555 738 42 323 936 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000339996   ⟹   ENSP00000419712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9133,514,586 - 133,524,959 (-)Ensembl
RefSeq Acc Id: ENST00000413714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9133,515,531 - 133,528,612 (-)Ensembl
RefSeq Acc Id: NM_001080483   ⟹   NP_001073952
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389133,514,586 - 133,524,959 (-)NCBI
GRCh379136,379,708 - 136,390,068 (-)RGD
Build 369135,369,579 - 135,379,787 (-)NCBI Archive
HuRef9105,880,949 - 105,891,314 (-)ENTREZGENE
CHM1_19136,529,867 - 136,540,211 (-)NCBI
T2T-CHM13v2.09145,728,593 - 145,738,968 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001073952 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NI61 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000419712
  ENSP00000419712.2
Reference Protein Sequences
RefSeq Acc Id: NP_001073952   ⟸   NM_001080483
- UniProtKB: A6NI61 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000419712   ⟸   ENST00000339996

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NI61-F1-model_v2 AlphaFold A6NI61 1-221 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33778 AgrOrtholog
COSMIC MYMK COSMIC
Ensembl Genes ENSG00000187616 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000339996 ENTREZGENE
  ENST00000339996.4 UniProtKB/Swiss-Prot
GTEx ENSG00000187616 GTEx
HGNC ID HGNC:33778 ENTREZGENE
Human Proteome Map MYMK Human Proteome Map
InterPro NGX6/PGAP6/MYMK UniProtKB/Swiss-Prot
KEGG Report hsa:389827 UniProtKB/Swiss-Prot
NCBI Gene 389827 ENTREZGENE
OMIM 615345 OMIM
PANTHER POST-GPI ATTACHMENT TO PROTEINS FACTOR 6 UniProtKB/Swiss-Prot
  PTHR14319 UniProtKB/Swiss-Prot
Pfam DUF3522 UniProtKB/Swiss-Prot
PharmGKB PA165586306 PharmGKB
UniProt A6NI61 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-16 MYMK  myomaker, myoblast fusion factor  TMEM8C  transmembrane protein 8C  Symbol and/or name change 5135510 APPROVED