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


1 to 17 of 17 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MYMKHumanCarey-Fineman-Ziter syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequencesClinVarPMID:28681861 and PMID:29560417
MYMKHumanCarey-Fineman-Ziter syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: MYOPATHY more ...ClinVarPMID:25741868 more ...
MYMKHumanCarey-Fineman-Ziter syndrome  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequencesClinVarPMID:28681861
MYMKHumanCarey-Fineman-Ziter syndrome  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
MYMKHumanCarey-Fineman-Ziter syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequencesClinVarPMID:25741868 and PMID:28681861
MYMKHumanCarey-Fineman-Ziter syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequencesClinVarPMID:25741868 and PMID:30016436
MYMKHumanCarey-Fineman-Ziter Syndrome 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1ClinVarPMID:25741868 more ...
MYMKHumanCarey-Fineman-Ziter Syndrome 1  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1ClinVarPMID:25741868
MYMKHumandevelopmental and epileptic encephalopathy 14  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14ClinVarPMID:28492532
MYMKHumanEhlers-Danlos syndrome classic type 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome and classic typeClinVarPMID:28492532
MYMKHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
MYMKHumangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
MYMKHumanKleefstra syndrome 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Kleefstra syndrome 1ClinVarPMID:22318994 more ...
MYMKHumanLeigh disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh syndromeClinVarPMID:28492532
MYMKHumanprimary coenzyme Q10 deficiency 7  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndromeClinVarPMID:28492532
MYMKHumanRafiq syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Rafiq syndromeClinVarPMID:28492532
MYMKHumantuberous sclerosis 1  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Tuberous sclerosis 1ClinVarPMID:28492532
1 to 17 of 17 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MYMKHumanCarey-Fineman-Ziter Syndrome 1  IAGP 7240710 OMIM 

1 to 12 of 12 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MYMKHuman1,2-dimethylhydrazine decreases expressionISOMymk (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of TMEM8C mRNACTDPMID:22206623
MYMKHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOMymk (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of MYMK mRNACTDPMID:32109520
MYMKHuman4,4'-sulfonyldiphenol increases expressionISOMymk (Mus musculus)6480464bisphenol S results in increased expression of TMEM8C mRNACTDPMID:30951980
MYMKHumanbisphenol A decreases expressionISOMymk (Rattus norvegicus)6480464bisphenol A results in decreased expression of MYMK mRNACTDPMID:25181051
MYMKHumanbisphenol F increases expressionISOMymk (Mus musculus)6480464bisphenol F results in increased expression of TMEM8C mRNACTDPMID:30951980
MYMKHumancarbon nanotube increases expressionISOMymk (Mus musculus)6480464Nanotubes more ...CTDPMID:25554681
MYMKHumanozone increases expressionISOMymk (Mus musculus)6480464Ozone results in increased expression of MYMK mRNACTDPMID:31626304
MYMKHumansodium arsenite increases expressionISOMymk (Mus musculus)6480464sodium arsenite results in increased expression of MYMK mRNACTDPMID:37682722
MYMKHumansunitinib decreases expressionEXP 6480464Sunitinib results in decreased expression of MYMK mRNACTDPMID:31533062
MYMKHumantitanium dioxide decreases expressionISOMymk (Mus musculus)6480464titanium dioxide results in decreased expression of TMEM8C mRNACTDPMID:29264374
MYMKHumantriclosan increases expressionEXP 6480464Triclosan results in increased expression of TMEM8C mRNACTDPMID:30510588
MYMKHumanvalproic acid increases methylationEXP 6480464Valproic Acid results in increased methylation of MYMK geneCTDPMID:29154799

1 to 12 of 12 rows

Biological Process
1 to 10 of 10 rows

  
1 to 10 of 10 rows

Cellular Component
1 to 11 of 11 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MYMKHumanGolgi apparatus located_inIEAUniProtKB-KW:KW-0333150520179 UniProtGO_REF:0000043
MYMKHumanGolgi membrane located_inIEAUniProtKB-SubCell:SL-0134150520179 UniProtGO_REF:0000044
MYMKHumanGolgi membrane located_inISSUniProtKB:Q9D1N4150520179 UniProtGO_REF:0000024
MYMKHumanGolgi membrane located_inIEAUniProtKB:Q9D1N4 and ensembl:ENSMUSP00000009358150520179 EnsemblGO_REF:0000107
MYMKHumanmembrane located_inIEAInterPro:IPR021910150520179 InterProGO_REF:0000002
MYMKHumanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
MYMKHumanplasma membrane located_inIDA 150520179 PMID:28681861UniProtPMID:28681861
MYMKHumanplasma membrane located_inIEAUniProtKB-SubCell:SL-0039150520179 UniProtGO_REF:0000044
MYMKHumanplasma membrane located_inISSUniProtKB:Q9D1N4150520179 UniProtGO_REF:0000024
MYMKHumanplasma membrane located_inIEAUniProtKB:Q9D1N4 and ensembl:ENSMUSP00000009358150520179 EnsemblGO_REF:0000107
MYMKHumanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
1 to 11 of 11 rows

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MYMKHumanprotein binding enablesISOUniProtKB:Q2Q5T59068941 PMID:28386024UniProtPMID:28386024

1 to 20 of 98 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MYMKHumanAbducens palsy  IAGP 8699517 HPOMIM:254940
MYMKHumanAbnormal cardiac septum morphology  IAGP 8699517 HPOMIM:254940
MYMKHumanAbnormality of the larynx  IAGP 8699517 HPOORPHA:1358
MYMKHumanAnteverted nares  IAGP 8699517 HPOMIM:254940
MYMKHumanAnteverted nares  IAGP 8699517 HPOORPHA:1358
MYMKHumanAplasia of the pectoralis major muscle  IAGP 8699517 HPOORPHA:1358
MYMKHumanAplasia/Hypoplasia of the cerebellum  IAGP 8699517 HPOORPHA:1358
MYMKHumanAplasia/Hypoplasia of the tongue  IAGP 8699517 HPOORPHA:1358
MYMKHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:254940
MYMKHumanBowel irritability  IAGP 8699517 HPOMIM:254940
MYMKHumanBrachydactyly  IAGP 8699517 HPOORPHA:1358
MYMKHumanBroad nasal tip  IAGP 8699517 HPOMIM:254940
MYMKHumanCataract  IAGP 8699517 HPOMIM:254940
MYMKHumanCerebral calcification  IAGP 8699517 HPOORPHA:1358
MYMKHumanCleft palate  IAGP 8699517 HPOMIM:254940
MYMKHumanCleft palate  IAGP 8699517 HPOORPHA:1358
MYMKHumanCranial nerve paralysis  IAGP 8699517 HPOORPHA:1358
MYMKHumanCryptorchidism  IAGP 8699517 HPOMIM:254940
MYMKHumanDecreased fetal movement  IAGP 8699517 HPOMIM:254940
MYMKHumanDepressed nasal bridge  IAGP 8699517 HPOMIM:254940
1 to 20 of 98 rows

#
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
PMID:21873635   PMID:28681861   PMID:29560417   PMID:31642939   PMID:34288723  



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

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Variants in MYMK
63 total Variants

1 to 10 of 120 rows
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
1 to 10 of 120 rows

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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597328458GWAS1424532_Hsexual dimorphism measurement QTL GWAS1424532 (human)1e-08sexual dimorphism measurement9133518025133518026Human
597250576GWAS1346650_Halkaline phosphatase measurement QTL GWAS1346650 (human)2e-28alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)9133523357133523358Human
597252709GWAS1348783_Halkaline phosphatase measurement QTL GWAS1348783 (human)2e-18alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)9133522677133522678Human
597264836GWAS1360910_Hfactor VIII measurement QTL GWAS1360910 (human)9e-13factor VIII measurement9133514768133514769Human
597223910GWAS1319984_Hblood group A QTL GWAS1319984 (human)5e-08blood group A9133523580133523581Human
597125753GWAS1221827_Happendicular lean mass QTL GWAS1221827 (human)8e-11appendicular lean mass9133524893133524894Human
596977754GWAS1097273_Hbody height QTL GWAS1097273 (human)2e-18body height9133519966133519967Human

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




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
331 576 1556 680 2671 919 1192 2 252 427 206 811 2524 1876 10 2517 393 962 875 50 1


RefSeq Transcripts NM_001080483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide BX324209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000339996   ⟹   ENSP00000419712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9133,514,586 - 133,524,959 (-)Ensembl
Ensembl 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 RefSeqs NP_001073952 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NI61 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000419712
  ENSP00000419712.2
RefSeq Acc Id: NP_001073952   ⟸   NM_001080483
- UniProtKB: A6NI61 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000419712   ⟸   ENST00000339996

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



1 to 16 of 16 rows
Database
Acc Id
Source(s)
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
1 to 16 of 16 rows


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