MYRF (myelin regulatory factor) - Rat Genome Database
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Gene: MYRF (myelin regulatory factor) Homo sapiens
Analyze
Symbol: MYRF
Name: myelin regulatory factor
RGD ID: 1315345
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in several processes, including central nervous system myelin maintenance; positive regulation of myelination; and protein autoprocessing. Localizes to Golgi apparatus; cytosol; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 11orf9; C11orf9; CUGS; KIAA0954; MGC10781; MMERV; MRF; myelin gene regulatory factor; Ndt80; pqn-47
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1161,752,636 - 61,788,518 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1161,752,642 - 61,788,518 (+)EnsemblGRCh38hg38GRCh38
GRCh381161,752,617 - 61,788,518 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371161,520,121 - 61,555,990 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,279,437 - 61,312,565 (+)NCBINCBI36hg18NCBI36
Build 341161,279,436 - 61,312,565NCBI
Celera1158,855,535 - 58,891,401 (+)NCBI
Cytogenetic Map11q12.2NCBI
HuRef1157,848,377 - 57,884,223 (+)NCBIHuRef
CHM1_11161,403,328 - 61,439,205 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:9615227   PMID:10231032   PMID:10828591   PMID:12384578   PMID:12477932   PMID:18854154   PMID:19274049   PMID:19596243   PMID:19913121   PMID:20301533   PMID:20628086   PMID:21829377  
PMID:21873635   PMID:22956843   PMID:23966832   PMID:23966833   PMID:24816252   PMID:24836286   PMID:28160598   PMID:28631093   PMID:29265453   PMID:29446546   PMID:30532227   PMID:30639242  
PMID:30985895   PMID:31048900   PMID:31069960   PMID:31172260   PMID:31266062   PMID:31700225   PMID:31964908  


Genomics

Comparative Map Data
MYRF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1161,752,636 - 61,788,518 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1161,752,642 - 61,788,518 (+)EnsemblGRCh38hg38GRCh38
GRCh381161,752,617 - 61,788,518 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371161,520,121 - 61,555,990 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,279,437 - 61,312,565 (+)NCBINCBI36hg18NCBI36
Build 341161,279,436 - 61,312,565NCBI
Celera1158,855,535 - 58,891,401 (+)NCBI
Cytogenetic Map11q12.2NCBI
HuRef1157,848,377 - 57,884,223 (+)NCBIHuRef
CHM1_11161,403,328 - 61,439,205 (+)NCBICHM1_1
Myrf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391910,185,635 - 10,218,134 (-)NCBIGRCm39mm39
GRCm381910,208,271 - 10,240,777 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1910,208,272 - 10,240,748 (-)EnsemblGRCm38mm10GRCm38
MGSCv371910,282,761 - 10,315,238 (-)NCBIGRCm37mm9NCBIm37
MGSCv361910,275,316 - 10,307,793 (-)NCBImm8
Celera1910,904,189 - 10,936,740 (-)NCBICelera
Cytogenetic Map19ANCBI
Myrf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01226,260,558 - 226,292,650 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1226,260,558 - 226,292,480 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01233,205,242 - 233,237,579 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,699,254 - 212,726,526 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11212,857,689 - 212,887,553 (-)NCBI
Celera1204,350,584 - 204,382,768 (-)NCBICelera
Cytogenetic Map1q43NCBI
Myrf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555115,927,698 - 5,942,242 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555115,927,103 - 5,949,289 (-)NCBIChiLan1.0ChiLan1.0
MYRF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11160,412,780 - 60,448,579 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1160,412,780 - 60,448,579 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01157,052,219 - 57,088,105 (+)NCBIMhudiblu_PPA_v0panPan3
MYRF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1854,692,453 - 54,723,085 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11854,690,073 - 54,723,046 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Myrf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365811,335,969 - 1,367,104 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYRF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.129,761,230 - 9,795,873 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.229,314,215 - 9,345,474 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYRF
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1112,066,277 - 12,103,091 (-)NCBI
Myrf
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624926615,991 - 636,167 (-)NCBI

Position Markers
RH48140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,519,355 - 61,519,542UniSTSGRCh37
Build 361161,275,931 - 61,276,118RGDNCBI36
Celera1158,854,769 - 58,854,956RGD
Cytogenetic Map11q12-q13.1UniSTS
HuRef1157,847,611 - 57,847,798UniSTS
GeneMap99-GB4 RH Map11236.6UniSTS
NCBI RH Map11559.6UniSTS
D11S2300E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,555,860 - 61,555,939UniSTSGRCh37
Build 361161,312,436 - 61,312,515RGDNCBI36
Celera1158,891,272 - 58,891,351RGD
Cytogenetic Map11q12-q13.1UniSTS
HuRef1157,884,094 - 57,884,173UniSTS
GeneMap99-GB4 RH Map11236.6UniSTS
NCBI RH Map11559.6UniSTS
RH78968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,555,694 - 61,555,877UniSTSGRCh37
Build 361161,312,270 - 61,312,453RGDNCBI36
Celera1158,891,106 - 58,891,289RGD
Cytogenetic Map11q12-q13.1UniSTS
HuRef1157,883,928 - 57,884,111UniSTS
GeneMap99-GB4 RH Map11228.98UniSTS
NCBI RH Map11563.0UniSTS
RH36061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,554,577 - 61,554,707UniSTSGRCh37
Build 361161,311,153 - 61,311,283RGDNCBI36
Celera1158,889,989 - 58,890,119RGD
Cytogenetic Map11q12-q13.1UniSTS
HuRef1157,882,811 - 57,882,941UniSTS
GeneMap99-GB4 RH Map11228.98UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5073
Count of miRNA genes:1105
Interacting mature miRNAs:1401
Transcripts:ENST00000265460, ENST00000278836, ENST00000327797, ENST00000389602, ENST00000536352, ENST00000537318, ENST00000537766, ENST00000539361, ENST00000546247
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


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 pharyngeal arch
High
Medium 560 107 225 213 224 219 485 18 2679 155 554 646 2 351 466
Low 1835 1255 1195 396 1079 244 2296 944 903 236 829 830 157 1 664 1010 4 2
Below cutoff 44 1624 301 15 620 2 1573 1228 151 27 75 135 13 189 1312 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI366703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY145048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY148147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265460   ⟹   ENSP00000265460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,755,389 - 61,788,517 (+)Ensembl
RefSeq Acc Id: ENST00000278836   ⟹   ENSP00000278836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,752,649 - 61,788,518 (+)Ensembl
RefSeq Acc Id: ENST00000389602   ⟹   ENSP00000374253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,777,606 - 61,786,417 (+)Ensembl
RefSeq Acc Id: ENST00000536352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,778,829 - 61,781,045 (+)Ensembl
RefSeq Acc Id: ENST00000537318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,778,829 - 61,782,312 (+)Ensembl
RefSeq Acc Id: ENST00000537766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,752,642 - 61,766,867 (+)Ensembl
RefSeq Acc Id: ENST00000539361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,781,937 - 61,785,510 (+)Ensembl
RefSeq Acc Id: ENST00000546247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,780,212 - 61,783,545 (+)Ensembl
RefSeq Acc Id: ENST00000675319   ⟹   ENSP00000502795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,766,117 - 61,788,410 (+)Ensembl
RefSeq Acc Id: ENST00000675345   ⟹   ENSP00000502028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,779,559 - 61,788,494 (+)Ensembl
RefSeq Acc Id: ENST00000675792   ⟹   ENSP00000501879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1161,781,808 - 61,788,365 (+)Ensembl
RefSeq Acc Id: NM_001127392   ⟹   NP_001120864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,636 - 61,788,518 (+)NCBI
GRCh371161,520,121 - 61,555,990 (+)NCBI
Celera1158,855,535 - 58,891,401 (+)RGD
HuRef1157,848,377 - 57,884,223 (+)RGD
CHM1_11161,403,328 - 61,439,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013279   ⟹   NP_037411
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,755,378 - 61,788,518 (+)NCBI
GRCh371161,520,121 - 61,555,990 (+)NCBI
Build 361161,279,437 - 61,312,565 (+)NCBI Archive
Celera1158,855,535 - 58,891,401 (+)RGD
HuRef1157,848,377 - 57,884,223 (+)RGD
CHM1_11161,406,080 - 61,439,205 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274222   ⟹   XP_005274279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,649 - 61,788,518 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274223   ⟹   XP_005274280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,649 - 61,788,518 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274224   ⟹   XP_005274281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,649 - 61,788,518 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274225   ⟹   XP_005274282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,649 - 61,788,518 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274226   ⟹   XP_005274283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,649 - 61,788,518 (+)NCBI
GRCh371161,520,121 - 61,555,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274227   ⟹   XP_005274284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,649 - 61,788,518 (+)NCBI
GRCh371161,520,121 - 61,555,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274228   ⟹   XP_005274285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,649 - 61,788,518 (+)NCBI
GRCh371161,520,121 - 61,555,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545234   ⟹   XP_011543536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,617 - 61,788,518 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448677   ⟹   XP_024304445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,769,417 - 61,788,518 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001120864   ⟸   NM_001127392
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y2G1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_037411   ⟸   NM_013279
- Peptide Label: isoform 1
- UniProtKB: Q9Y2G1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274279   ⟸   XM_005274222
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005274280   ⟸   XM_005274223
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005274281   ⟸   XM_005274224
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005274282   ⟸   XM_005274225
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005274284   ⟸   XM_005274227
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005274283   ⟸   XM_005274226
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005274285   ⟸   XM_005274228
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011543536   ⟸   XM_011545234
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_024304445   ⟸   XM_024448677
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: ENSP00000374253   ⟸   ENST00000389602
RefSeq Acc Id: ENSP00000278836   ⟸   ENST00000278836
RefSeq Acc Id: ENSP00000265460   ⟸   ENST00000265460
RefSeq Acc Id: ENSP00000501879   ⟸   ENST00000675792
RefSeq Acc Id: ENSP00000502795   ⟸   ENST00000675319
RefSeq Acc Id: ENSP00000502028   ⟸   ENST00000675345
Protein Domains
Peptidase S74

Promoters
RGD ID:6788560
Promoter ID:HG_KWN:13066
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001127392
Position:
Human AssemblyChrPosition (strand)Source
Build 361161,276,549 - 61,277,049 (+)MPROMDB
RGD ID:6814972
Promoter ID:HG_MRA:2756
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC004938,   BC020196
Position:
Human AssemblyChrPosition (strand)Source
Build 361161,311,901 - 61,312,401 (+)MPROMDB
RGD ID:7220569
Promoter ID:EPDNEW_H16030
Type:initiation region
Name:MYRF_1
Description:myelin regulatory factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16031  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,752,636 - 61,752,696EPDNEW
RGD ID:7220571
Promoter ID:EPDNEW_H16031
Type:initiation region
Name:MYRF_2
Description:myelin regulatory factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16030  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,755,390 - 61,755,450EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001127392.3(MYRF):c.1256C>T (p.Thr419Met) single nucleotide variant Malignant tumor of prostate [RCV000149201] Chr11:61774107 [GRCh38]
Chr11:61541579 [GRCh37]
Chr11:11q12.2
uncertain significance
GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3 copy number gain See cases [RCV000136058] Chr11:61409529..61821159 [GRCh38]
Chr11:61177001..61588631 [GRCh37]
Chr11:60933577..61345207 [NCBI36]
Chr11:11q12.2
likely benign
NM_001127392.3(MYRF):c.2336+1G>A single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV000736002]|not specified [RCV000413370] Chr11:61779931 [GRCh38]
Chr11:61547403 [GRCh37]
Chr11:11q12.2
pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001127392.3(MYRF):c.1208A>G (p.Gln403Arg) single nucleotide variant ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION [RCV000679810] Chr11:61774059 [GRCh38]
Chr11:61541531 [GRCh37]
Chr11:11q12.2
pathogenic
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3 copy number gain not provided [RCV000683362] Chr11:58935215..62177656 [GRCh37]
Chr11:11q12.1-12.3
likely pathogenic
NM_001127392.3(MYRF):c.1254_1255dup (p.Thr419fs) duplication CARDIAC-UROGENITAL SYNDROME [RCV000736004] Chr11:61774103..61774104 [GRCh38]
Chr11:61541575..61541576 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.2518C>T (p.Arg840Ter) single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV000736003] Chr11:61780991 [GRCh38]
Chr11:61548463 [GRCh37]
Chr11:11q12.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001127392.3(MYRF):c.1200C>A (p.Asn400Lys) single nucleotide variant not provided [RCV000761608] Chr11:61774051 [GRCh38]
Chr11:61541523 [GRCh37]
Chr11:11q12.2
likely pathogenic
NM_001127392.3(MYRF):c.2817G>A (p.Trp939Ter) single nucleotide variant not provided [RCV000760682] Chr11:61781625 [GRCh38]
Chr11:61549097 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.3405C>T (p.Leu1135=) single nucleotide variant not provided [RCV000972124] Chr11:61786092 [GRCh38]
Chr11:61553564 [GRCh37]
Chr11:11q12.2
benign
NM_001127392.3(MYRF):c.1269C>T (p.Leu423=) single nucleotide variant not provided [RCV000893615] Chr11:61774120 [GRCh38]
Chr11:61541592 [GRCh37]
Chr11:11q12.2
benign
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV000758214] Chr11:61779333 [GRCh38]
Chr11:61546805 [GRCh37]
Chr11:11q12.2
pathogenic|uncertain significance
NM_001127392.3(MYRF):c.3239dup (p.Glu1081fs) duplication CARDIAC-UROGENITAL SYNDROME [RCV000786767] Chr11:61784321..61784322 [GRCh38]
Chr11:61551793..61551794 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly) single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV000786766] Chr11:61783599 [GRCh38]
Chr11:61551071 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.3207C>T (p.Pro1069=) single nucleotide variant not provided [RCV000895799] Chr11:61784292 [GRCh38]
Chr11:61551764 [GRCh37]
Chr11:11q12.2
benign
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV000758213] Chr11:61774154 [GRCh38]
Chr11:61541626 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.350_366delinsT (p.Gly117fs) indel CARDIAC-UROGENITAL SYNDROME [RCV000786768] Chr11:61766173..61766189 [GRCh38]
Chr11:61533645..61533661 [GRCh37]
Chr11:11q12.2
pathogenic
NM_013279.4(MYRF):c.3241del (p.Arg1081fs) deletion Nanophthalmos 1 [RCV000786043] Chr11:61785859 [GRCh38]
Chr11:61553331 [GRCh37]
Chr11:11q12.2
pathogenic
GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3 copy number gain not provided [RCV000848682] Chr11:60499486..61529578 [GRCh37]
Chr11:11q12.2
uncertain significance
GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 copy number gain not provided [RCV001006412] Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3
uncertain significance
NM_001127392.3(MYRF):c.425C>G (p.Ser142Trp) single nucleotide variant not specified [RCV001174742] Chr11:61769286 [GRCh38]
Chr11:61536758 [GRCh37]
Chr11:11q12.2
uncertain significance
NM_001127392.3(MYRF):c.2167G>A (p.Ala723Thr) single nucleotide variant not provided [RCV000950763] Chr11:61779416 [GRCh38]
Chr11:61546888 [GRCh37]
Chr11:11q12.2
benign
NM_001127392.3(MYRF):c.3367G>A (p.Ala1123Thr) single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV000988566] Chr11:61785866 [GRCh38]
Chr11:61553338 [GRCh37]
Chr11:11q12.2
uncertain significance
NM_001127392.3(MYRF):c.789dup (p.Ser264fs) duplication not provided [RCV001008929] Chr11:61771540..61771541 [GRCh38]
Chr11:61539012..61539013 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter) single nucleotide variant Dextrocardia [RCV001254676] Chr11:61777459 [GRCh38]
Chr11:61544931 [GRCh37]
Chr11:11q12.2
likely pathogenic
NM_001127392.3(MYRF):c.2572+1G>A single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV001194628] Chr11:61781046 [GRCh38]
Chr11:61548518 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val) single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV001194632] Chr11:61779323 [GRCh38]
Chr11:61546795 [GRCh37]
Chr11:11q12.2
likely pathogenic
NM_001127392.3(MYRF):c.2041del (p.Ala681fs) deletion Inborn genetic diseases [RCV001267143] Chr11:61779287 [GRCh38]
Chr11:61546759 [GRCh37]
Chr11:11q12.2
pathogenic
NM_001127392.3(MYRF):c.1420G>A (p.Val474Met) single nucleotide variant Seizures [RCV001255033] Chr11:61776353 [GRCh38]
Chr11:61543825 [GRCh37]
Chr11:11q12.2
uncertain significance
NM_001127392.3(MYRF):c.2042C>A (p.Ala681Asp) single nucleotide variant CARDIAC-UROGENITAL SYNDROME [RCV001267679] Chr11:61779291 [GRCh38]
Chr11:61546763 [GRCh37]
Chr11:11q12.2
likely pathogenic
NM_001127392.3(MYRF):c.2358_2359del (p.Tyr787fs) deletion Inborn genetic diseases [RCV001265799] Chr11:61780242..61780243 [GRCh38]
Chr11:61547714..61547715 [GRCh37]
Chr11:11q12.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1181 AgrOrtholog
COSMIC MYRF COSMIC
Ensembl Genes ENSG00000124920 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265460 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000278836 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501879 UniProtKB/TrEMBL
  ENSP00000502028 UniProtKB/TrEMBL
  ENSP00000502795 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265460 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000278836 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675319 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675345 UniProtKB/TrEMBL
  ENST00000675792 UniProtKB/TrEMBL
GTEx ENSG00000124920 GTEx
HGNC ID HGNC:1181 ENTREZGENE
Human Proteome Map MYRF Human Proteome Map
InterPro MRF UniProtKB/Swiss-Prot
  MRF_C1 UniProtKB/Swiss-Prot
  MRF_C2 UniProtKB/Swiss-Prot
  NDT80_DNA-bd_dom UniProtKB/Swiss-Prot
  p53-like_TF_DNA-bd UniProtKB/Swiss-Prot
  S74_ICA UniProtKB/Swiss-Prot
KEGG Report hsa:745 UniProtKB/Swiss-Prot
NCBI Gene 745 ENTREZGENE
OMIM 608329 OMIM
  618113 OMIM
  618280 OMIM
PANTHER PTHR13029:SF16 UniProtKB/Swiss-Prot
Pfam MRF_C1 UniProtKB/Swiss-Prot
  MRF_C2 UniProtKB/Swiss-Prot
  NDT80_PhoG UniProtKB/Swiss-Prot
  Peptidase_S74 UniProtKB/Swiss-Prot
PharmGKB PA25500 PharmGKB
PROSITE ICA UniProtKB/Swiss-Prot
  NDT80 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49417 UniProtKB/Swiss-Prot
UniProt A0A6Q8PFL7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFY9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHM1_HUMAN UniProtKB/TrEMBL
  MYRF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O43582 UniProtKB/Swiss-Prot
  Q9P1Q6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-25 MYRF  myelin regulatory factor  C11orf9  chromosome 11 open reading frame 9  Symbol and/or name change 5135510 APPROVED