REST (RE1 silencing transcription factor) - Rat Genome Database

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Gene: REST (RE1 silencing transcription factor) Homo sapiens
Analyze
Symbol: REST
Name: RE1 silencing transcription factor
RGD ID: 1347756
HGNC Page HGNC
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including cellular response to electrical stimulus; negative regulation of cell differentiation; and regulation of cellular biosynthetic process. Located in cytosol and nucleoplasm. Part of transcription repressor complex. Implicated in autosomal dominant nonsyndromic deafness 27; gingival fibromatosis 5; and nephroblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DFNA27; GINGF5; HGF5; neural-restrictive silencer factor; neuron restrictive silencer factor; neuron-restrictive silencer factor; NRSF; RE1-silencing transcription factor; RE1-silencing transcription factor variant E1a/E2/E3/E4c; RE1-silencing transcription factor variant E1a/E2/E3/E5; RE1-silencing transcription factor variant E1a/E2/E3/N3a/E4i; RE1-silencing transcription factor variant E1a/E2/E3/N3c/E4; RE1-silencing transcription factor variant E1a/E2/E4; RE1-silencing transcription factor variant E1a/E2/E5; RE1-silencing transcription factor variant E1a/E2a/E2k; RE1-silencing transcription factor variant E1a/E2d/E4g; RE1-silencing transcription factor variant E1a/E2e/E4h; RE1-silencing transcription factor variant E1a/E2f/E4e; RE1-silencing transcription factor variant E1a/E2k/E2i/E3/E4j; RE1-silencing transcription factor variant E1b/E2/E3/E5; RE1-silencing transcription factor variant E1b/E2/E3/N3b/E4i; RE1-silencing transcription factor variant E1b/E2/E3/N3c/E4; RE1-silencing transcription factor variant E1b/E2a/E2k; RE1-silencing transcription factor variant E1b/E2c/E2j/E3/E4; RE1-silencing transcription factor variant E1b/E2e/E4h; RE1-silencing transcription factor variant E1c/E2/E3/E5; RE1-silencing transcription factor variant E1c/E2a/E2k; RE1-silencing transcription factor variant E1c/E2g/E3/E4; repressor binding to the X2 box; WT6; X2 box repressor; XBR
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420794  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl456,907,876 - 56,966,808 (+)EnsemblGRCh38hg38GRCh38
GRCh38456,907,900 - 56,935,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37457,774,066 - 57,802,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,468,799 - 57,493,097 (+)NCBINCBI36hg18NCBI36
Build 34457,614,969 - 57,639,268NCBI
Celera455,279,985 - 55,307,950 (+)NCBI
Cytogenetic Map4q12NCBI
HuRef453,727,986 - 53,755,535 (+)NCBIHuRef
CHM1_1457,809,465 - 57,837,418 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
auditory receptor cell stereocilium organization  (ISS)
cardiac muscle cell myoblast differentiation  (ISS)
cellular response to electrical stimulus  (IMP)
cellular response to glucocorticoid stimulus  (IDA)
cellular response to xenobiotic stimulus  (IMP)
detection of mechanical stimulus involved in sensory perception of sound  (ISS)
hematopoietic progenitor cell differentiation  (IEA,ISO)
histone H4 deacetylation  (IDA)
modification of synaptic structure  (ISS)
negative regulation by host of viral transcription  (IDA)
negative regulation of aldosterone biosynthetic process  (IMP)
negative regulation of amniotic stem cell differentiation  (IMP)
negative regulation of calcium ion-dependent exocytosis  (ISS)
negative regulation of cell population proliferation  (IMP)
negative regulation of cortisol biosynthetic process  (IMP)
negative regulation of dense core granule biogenesis  (ISS)
negative regulation of gene expression  (IMP)
negative regulation of insulin secretion  (IMP)
negative regulation of mesenchymal stem cell differentiation  (IMP)
negative regulation of neurogenesis  (IEA,ISO,ISS)
negative regulation of neuron differentiation  (IBA,IDA,IEA,IMP,ISO)
negative regulation of oxidative stress-induced neuron death  (IMP)
negative regulation of pri-miRNA transcription by RNA polymerase II  (IMP)
negative regulation of transcription by RNA polymerase II  (IDA,TAS)
negative regulation of transcription regulatory region DNA binding  (ISS)
negative regulation of transcription, DNA-templated  (IBA,IDA,IMP,ISO,NAS)
neuromuscular process controlling balance  (ISS)
neuron differentiation  (ISO)
neuronal stem cell population maintenance  (ISS)
positive regulation of apoptotic process  (IEA,IMP)
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IMP)
positive regulation of gene expression  (ISS)
positive regulation of neuron differentiation  (ISS)
positive regulation of oxidative stress-induced neuron death  (ISS)
positive regulation of stem cell population maintenance  (IDA)
positive regulation of transcription by RNA polymerase II  (IBA)
positive regulation of transcription, DNA-templated  (IDA)
regulation of alternative mRNA splicing, via spliceosome  (ISS)
regulation of gene expression  (IBA,ISO)
regulation of osteoblast differentiation  (ISS)
regulation of oxidative stress-induced neuron death  (ISS)
regulation of transcription by RNA polymerase II  (IEA)
regulation of transcription, DNA-templated  (IDA,NAS)
response to hypoxia  (IDA)
response to ischemia  (ISS)
somatic stem cell population maintenance  (ISS)

Cellular Component
chromatin  (ISO)
cytoplasm  (IDA)
cytosol  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,IMP,NAS)
protein-containing complex  (ISO)
transcription repressor complex  (IBA,IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7697725   PMID:7871435   PMID:8568247   PMID:9756936   PMID:10449787   PMID:10491605   PMID:10521596   PMID:10570134   PMID:10734093   PMID:10766169   PMID:11406295   PMID:11741002  
PMID:11779185   PMID:12192000   PMID:12399542   PMID:12477932   PMID:12492469   PMID:12628452   PMID:12829700   PMID:12881722   PMID:14565956   PMID:14633990   PMID:15009665   PMID:15035981  
PMID:15068239   PMID:15197246   PMID:15200951   PMID:15240883   PMID:15302935   PMID:15322094   PMID:15489334   PMID:15528196   PMID:15681389   PMID:15767543   PMID:15897453   PMID:16247481  
PMID:16253247   PMID:16288918   PMID:16330548   PMID:16417580   PMID:16442230   PMID:16478988   PMID:17011572   PMID:17023429   PMID:17130167   PMID:17468742   PMID:17540862   PMID:17555596  
PMID:17709376   PMID:17823282   PMID:17984088   PMID:18029348   PMID:18234667   PMID:18279434   PMID:18284609   PMID:18354482   PMID:18354483   PMID:18385973   PMID:18518926   PMID:18570921  
PMID:18691653   PMID:18771760   PMID:18806873   PMID:18818083   PMID:18922795   PMID:18959489   PMID:18990442   PMID:19061646   PMID:19134002   PMID:19149626   PMID:19173732   PMID:19246391  
PMID:19274049   PMID:19342457   PMID:19401398   PMID:19426709   PMID:19439607   PMID:19539370   PMID:19631241   PMID:19846118   PMID:19913121   PMID:19913583   PMID:20011975   PMID:20080105  
PMID:20170730   PMID:20179156   PMID:20392875   PMID:20548947   PMID:20564196   PMID:20624818   PMID:20628086   PMID:20652837   PMID:20697351   PMID:20926649   PMID:20942606   PMID:21106707  
PMID:21221247   PMID:21252229   PMID:21258371   PMID:21284946   PMID:21396985   PMID:21536750   PMID:21693630   PMID:21832040   PMID:21873635   PMID:21909106   PMID:21921234   PMID:21948504  
PMID:22017875   PMID:22228704   PMID:22396653   PMID:22419809   PMID:22496669   PMID:22530801   PMID:22532168   PMID:22569092   PMID:22665064   PMID:22668508   PMID:22684772   PMID:22701651  
PMID:22792276   PMID:22821339   PMID:22958208   PMID:23069678   PMID:23084401   PMID:23086924   PMID:23151521   PMID:23168245   PMID:23216891   PMID:23238568   PMID:23250796   PMID:23284171  
PMID:23598529   PMID:23614038   PMID:23651552   PMID:23928058   PMID:24068568   PMID:24126098   PMID:24135225   PMID:24163104   PMID:24235014   PMID:24415532   PMID:24500709   PMID:24634989  
PMID:24670762   PMID:24740933   PMID:24760862   PMID:25154622   PMID:25197063   PMID:25220237   PMID:25299066   PMID:25332235   PMID:25424701   PMID:25429064   PMID:25453754   PMID:25515538  
PMID:25524378   PMID:25559091   PMID:25569790   PMID:25613376   PMID:25900982   PMID:25990720   PMID:26003726   PMID:26071481   PMID:26100015   PMID:26119235   PMID:26288249   PMID:26307266  
PMID:26341630   PMID:26496610   PMID:26551668   PMID:26647819   PMID:26690059   PMID:26708060   PMID:27004407   PMID:27034167   PMID:27531581   PMID:27634302   PMID:27685921   PMID:27697091  
PMID:27698411   PMID:27773593   PMID:27976729   PMID:28040710   PMID:28142142   PMID:28218430   PMID:28218735   PMID:28483947   PMID:28570664   PMID:28685749   PMID:28686854   PMID:28912501  
PMID:28986522   PMID:29351877   PMID:29507755   PMID:29845934   PMID:29872149   PMID:29931089   PMID:29944905   PMID:29961578   PMID:30006541   PMID:30021884   PMID:30108242   PMID:30217818  
PMID:30224756   PMID:30391650   PMID:30456455   PMID:30670636   PMID:30684677   PMID:30699343   PMID:30804502   PMID:30903955   PMID:31146914   PMID:31242417   PMID:31361762   PMID:31428904  
PMID:31535361   PMID:31631027   PMID:32305596   PMID:32556117   PMID:32694731   PMID:32807901   PMID:32946763   PMID:33038663   PMID:33108349   PMID:33652591   PMID:33834072  


Genomics

Comparative Map Data
REST
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl456,907,876 - 56,966,808 (+)EnsemblGRCh38hg38GRCh38
GRCh38456,907,900 - 56,935,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37457,774,066 - 57,802,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,468,799 - 57,493,097 (+)NCBINCBI36hg18NCBI36
Build 34457,614,969 - 57,639,268NCBI
Celera455,279,985 - 55,307,950 (+)NCBI
Cytogenetic Map4q12NCBI
HuRef453,727,986 - 53,755,535 (+)NCBIHuRef
CHM1_1457,809,465 - 57,837,418 (+)NCBICHM1_1
Rest
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39577,413,273 - 77,434,279 (+)NCBIGRCm39mm39
GRCm39 Ensembl577,413,338 - 77,434,279 (+)Ensembl
GRCm38577,265,494 - 77,286,432 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl577,265,491 - 77,286,432 (+)EnsemblGRCm38mm10GRCm38
MGSCv37577,694,519 - 77,712,722 (+)NCBIGRCm37mm9NCBIm37
MGSCv36578,342,716 - 78,357,759 (+)NCBImm8
Celera574,535,211 - 74,550,959 (+)NCBICelera
Cytogenetic Map5C3.3NCBI
Rest
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21430,859,109 - 30,879,828 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1433,134,511 - 33,164,141 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01433,131,985 - 33,152,019 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01432,925,741 - 32,951,551 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41433,136,046 - 33,151,142 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11433,136,045 - 33,151,142 (-)NCBI
Celera1430,181,687 - 30,196,879 (-)NCBICelera
Cytogenetic Map14p11NCBI
REST
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1473,556,780 - 73,582,419 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl473,526,085 - 73,582,242 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0466,984,466 - 67,012,301 (-)NCBIMhudiblu_PPA_v0panPan3
REST
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11349,041,082 - 49,062,596 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1349,041,047 - 49,059,388 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1348,930,954 - 48,953,349 (+)NCBI
ROS_Cfam_1.01349,654,746 - 49,677,219 (+)NCBI
UMICH_Zoey_3.11349,327,159 - 49,349,567 (+)NCBI
UNSW_CanFamBas_1.01348,856,606 - 48,878,993 (+)NCBI
UU_Cfam_GSD_1.01349,801,275 - 49,823,781 (+)NCBI
Rest
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528527,258,819 - 27,303,941 (-)NCBI
SpeTri2.0NW_00493648219,018,454 - 19,040,438 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
REST
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl856,035,150 - 56,215,013 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1856,035,182 - 56,061,140 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2857,440,573 - 57,466,453 (-)NCBISscrofa10.2Sscrofa10.2susScr3
REST
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1711,749,312 - 11,776,103 (-)NCBI
ChlSab1.1 Ensembl711,749,168 - 11,773,340 (-)Ensembl
Vero_WHO_p1.0NW_02366606612,388,814 - 12,415,743 (-)NCBI
Rest
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476112,464,243 - 12,495,294 (-)NCBI

Position Markers
SHGC-35370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,777,782 - 57,777,997UniSTSGRCh37
Build 36457,472,539 - 57,472,754RGDNCBI36
Celera455,283,725 - 55,283,940RGD
Cytogenetic Map4q12UniSTS
HuRef453,731,528 - 53,731,743UniSTS
TNG Radiation Hybrid Map431294.0UniSTS
Stanford-G3 RH Map43375.0UniSTS
GeneMap99-GB4 RH Map4350.01UniSTS
Whitehead-RH Map4407.4UniSTS
NCBI RH Map4664.4UniSTS
GeneMap99-G3 RH Map43359.0UniSTS
STS-U22314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,797,985 - 57,798,144UniSTSGRCh37
Build 36457,492,742 - 57,492,901RGDNCBI36
Celera455,303,926 - 55,304,085RGD
Cytogenetic Map4q12UniSTS
HuRef453,751,511 - 53,751,670UniSTS
GeneMap99-GB4 RH Map4351.02UniSTS
SHGC-59569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,707,113 - 79,707,304UniSTSGRCh37
GRCh37457,801,739 - 57,801,930UniSTSGRCh37
Build 36457,496,496 - 57,496,687RGDNCBI36
Celera455,307,679 - 55,307,870RGD
Celera1279,373,779 - 79,373,970UniSTS
Cytogenetic Map12cen-q21UniSTS
Cytogenetic Map4q12UniSTS
HuRef1276,763,288 - 76,763,479UniSTS
HuRef453,755,264 - 53,755,455UniSTS
TNG Radiation Hybrid Map431404.0UniSTS
GeneMap99-GB4 RH Map4353.05UniSTS
RH65065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,796,105 - 57,796,205UniSTSGRCh37
Build 36457,490,862 - 57,490,962RGDNCBI36
Celera455,302,046 - 55,302,146RGD
Cytogenetic Map4q12UniSTS
HuRef453,749,631 - 53,749,731UniSTS
UniSTS:168889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,359,661 - 150,359,778UniSTSGRCh37
GRCh37457,801,848 - 57,801,965UniSTSGRCh37
Build 36457,496,605 - 57,496,722RGDNCBI36
Celera7144,916,755 - 144,916,872UniSTS
Celera455,307,788 - 55,307,905RGD
HuRef453,755,373 - 53,755,490UniSTS
HuRef7144,171,950 - 144,172,067UniSTS
CRA_TCAGchr7v27149,688,958 - 149,689,075UniSTS
REST__5483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,796,783 - 57,797,647UniSTSGRCh37
Build 36457,491,540 - 57,492,404RGDNCBI36
Celera455,302,724 - 55,303,588RGD
HuRef453,750,309 - 53,751,173UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pOncomiRDBexternal_infoNANA23212916
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19242418

Predicted Target Of
Summary Value
Count of predictions:1658
Count of miRNA genes:931
Interacting mature miRNAs:1099
Transcripts:ENST00000309042, ENST00000503522, ENST00000511065, ENST00000514063
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 702 641 679 145 867 85 1776 291 682 230 1118 974 74 319 1103 4
Low 1731 2327 1045 479 1067 380 2580 1900 2950 187 336 609 98 885 1685 1 2
Below cutoff 2 21 1 17 5 91 2 3 25 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB024498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF228045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX896993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC117262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC117263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC117264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC117265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC117266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U13877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U13879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000309042   ⟹   ENSP00000311816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,907,900 - 56,935,844 (+)Ensembl
RefSeq Acc Id: ENST00000503522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,909,190 - 56,910,688 (+)Ensembl
RefSeq Acc Id: ENST00000514063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,911,212 - 56,929,959 (+)Ensembl
RefSeq Acc Id: ENST00000611211   ⟹   ENSP00000479151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,909,016 - 56,929,878 (+)Ensembl
RefSeq Acc Id: ENST00000612429   ⟹   ENSP00000484206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,907,876 - 56,922,378 (+)Ensembl
RefSeq Acc Id: ENST00000616975   ⟹   ENSP00000484058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,907,876 - 56,927,655 (+)Ensembl
RefSeq Acc Id: ENST00000619101   ⟹   ENSP00000484836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,908,913 - 56,935,836 (+)Ensembl
RefSeq Acc Id: ENST00000622863   ⟹   ENSP00000481650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,908,094 - 56,932,184 (+)Ensembl
RefSeq Acc Id: ENST00000638187   ⟹   ENSP00000492006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,907,876 - 56,919,989 (+)Ensembl
RefSeq Acc Id: ENST00000640168   ⟹   ENSP00000490969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,907,876 - 56,966,678 (+)Ensembl
RefSeq Acc Id: ENST00000640343   ⟹   ENSP00000492813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,907,876 - 56,966,678 (+)Ensembl
RefSeq Acc Id: ENST00000675105   ⟹   ENSP00000502313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,909,190 - 56,935,822 (+)Ensembl
RefSeq Acc Id: ENST00000675249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,912,583 - 56,916,271 (+)Ensembl
RefSeq Acc Id: ENST00000675341   ⟹   ENSP00000502488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,909,561 - 56,935,844 (+)Ensembl
RefSeq Acc Id: NM_001193508   ⟹   NP_001180437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,908,913 - 56,935,844 (+)NCBI
GRCh37457,774,042 - 57,802,010 (+)ENTREZGENE
HuRef453,727,986 - 53,755,535 (+)ENTREZGENE
CHM1_1457,810,502 - 57,837,418 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363453   ⟹   NP_001350382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,908,742 - 56,935,844 (+)NCBI
RefSeq Acc Id: NM_005612   ⟹   NP_005603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,907,900 - 56,935,844 (+)NCBI
GRCh37457,774,042 - 57,802,010 (+)ENTREZGENE
Build 36457,468,799 - 57,493,097 (+)NCBI Archive
HuRef453,727,986 - 53,755,535 (+)ENTREZGENE
CHM1_1457,809,465 - 57,837,418 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008527   ⟹   XP_016864016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,907,915 - 56,935,847 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001180437 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350382 (Get FASTA)   NCBI Sequence Viewer  
  NP_005603 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864016 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17211 (Get FASTA)   NCBI Sequence Viewer  
  AAC50114 (Get FASTA)   NCBI Sequence Viewer  
  AAC50115 (Get FASTA)   NCBI Sequence Viewer  
  AAF61710 (Get FASTA)   NCBI Sequence Viewer  
  AAH17822 (Get FASTA)   NCBI Sequence Viewer  
  AAH38985 (Get FASTA)   NCBI Sequence Viewer  
  AAI32860 (Get FASTA)   NCBI Sequence Viewer  
  AAI36492 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81807 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81808 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81809 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81810 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81811 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81812 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81813 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81814 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81815 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81816 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81817 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81818 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81819 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81820 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81821 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81822 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81823 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81824 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81825 (Get FASTA)   NCBI Sequence Viewer  
  AFZ81826 (Get FASTA)   NCBI Sequence Viewer  
  BAD92987 (Get FASTA)   NCBI Sequence Viewer  
  EAX05516 (Get FASTA)   NCBI Sequence Viewer  
  EAX05517 (Get FASTA)   NCBI Sequence Viewer  
  Q13127 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005603   ⟸   NM_005612
- UniProtKB: Q13127 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180437   ⟸   NM_001193508
- UniProtKB: Q13127 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864016   ⟸   XM_017008527
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001350382   ⟸   NM_001363453
RefSeq Acc Id: ENSP00000481650   ⟸   ENST00000622863
RefSeq Acc Id: ENSP00000311816   ⟸   ENST00000309042
RefSeq Acc Id: ENSP00000492006   ⟸   ENST00000638187
RefSeq Acc Id: ENSP00000479151   ⟸   ENST00000611211
RefSeq Acc Id: ENSP00000484206   ⟸   ENST00000612429
RefSeq Acc Id: ENSP00000490969   ⟸   ENST00000640168
RefSeq Acc Id: ENSP00000492813   ⟸   ENST00000640343
RefSeq Acc Id: ENSP00000484058   ⟸   ENST00000616975
RefSeq Acc Id: ENSP00000484836   ⟸   ENST00000619101
RefSeq Acc Id: ENSP00000502488   ⟸   ENST00000675341
RefSeq Acc Id: ENSP00000502313   ⟸   ENST00000675105
Protein Domains
C2H2-type

Promoters
RGD ID:6867528
Promoter ID:EPDNEW_H6929
Type:initiation region
Name:REST_1
Description:RE1 silencing transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6930  EPDNEW_H6931  EPDNEW_H6932  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,907,924 - 56,907,984EPDNEW
RGD ID:6867530
Promoter ID:EPDNEW_H6930
Type:initiation region
Name:REST_2
Description:RE1 silencing transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6929  EPDNEW_H6931  EPDNEW_H6932  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,908,938 - 56,908,998EPDNEW
RGD ID:6867532
Promoter ID:EPDNEW_H6931
Type:initiation region
Name:REST_4
Description:RE1 silencing transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6929  EPDNEW_H6930  EPDNEW_H6932  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,909,158 - 56,909,218EPDNEW
RGD ID:6867534
Promoter ID:EPDNEW_H6932
Type:initiation region
Name:REST_3
Description:RE1 silencing transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6929  EPDNEW_H6930  EPDNEW_H6931  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,911,264 - 56,911,324EPDNEW
RGD ID:6802560
Promoter ID:HG_KWN:48309
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000250691
Position:
Human AssemblyChrPosition (strand)Source
Build 36457,468,646 - 57,469,146 (+)MPROMDB
RGD ID:6802559
Promoter ID:HG_KWN:48310
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003HCI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36457,469,356 - 57,470,202 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1
pathogenic
GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3 copy number gain See cases [RCV000051771] Chr4:51831622..66991489 [GRCh38]
Chr4:52697788..67857207 [GRCh37]
Chr4:52392545..67539802 [NCBI36]
Chr4:4q12-13.2
pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3 copy number gain See cases [RCV000051773] Chr4:51899860..59984479 [GRCh38]
Chr4:52766026..60850197 [GRCh37]
Chr4:52460783..60532792 [NCBI36]
Chr4:4q12-13.1
pathogenic
GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1 copy number loss See cases [RCV000053265] Chr4:52639018..59984479 [GRCh38]
Chr4:53505185..60850197 [GRCh37]
Chr4:53199942..60532792 [NCBI36]
Chr4:4q12-13.1
pathogenic
GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1 copy number loss See cases [RCV000053266] Chr4:54198601..62270115 [GRCh38]
Chr4:55064768..63135833 [GRCh37]
Chr4:54759525..62818428 [NCBI36]
Chr4:4q12-13.1
pathogenic
NM_005612.4(REST):c.2254C>A (p.Pro752Thr) single nucleotide variant Malignant melanoma [RCV000066466] Chr4:56931112 [GRCh38]
Chr4:57797278 [GRCh37]
Chr4:57492035 [NCBI36]
Chr4:4q12
not provided
NM_005612.4(REST):c.2938G>A (p.Glu980Lys) single nucleotide variant Malignant melanoma [RCV000061016] Chr4:56931796 [GRCh38]
Chr4:57797962 [GRCh37]
Chr4:57492719 [NCBI36]
Chr4:4q12
not provided
NM_005612.4(REST):c.2957C>T (p.Ser986Phe) single nucleotide variant Malignant melanoma [RCV000061017] Chr4:56931815 [GRCh38]
Chr4:57797981 [GRCh37]
Chr4:57492738 [NCBI36]
Chr4:4q12
not provided
NM_005612.4(REST):c.2962A>C (p.Thr988Pro) single nucleotide variant Malignant melanoma [RCV000061018] Chr4:56931820 [GRCh38]
Chr4:57797986 [GRCh37]
Chr4:57492743 [NCBI36]
Chr4:4q12
not provided
NM_005612.5(REST):c.238G>A (p.Gly80Arg) single nucleotide variant Fibromatosis, gingival, 5 [RCV001294083] Chr4:56910876 [GRCh38]
Chr4:57777042 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2533G>T (p.Val845Phe) single nucleotide variant not provided [RCV001348713] Chr4:56931391 [GRCh38]
Chr4:57797557 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1688G>T (p.Ser563Ile) single nucleotide variant not provided [RCV001348097] Chr4:56930546 [GRCh38]
Chr4:57796712 [GRCh37]
Chr4:4q12
uncertain significance
GRCh38/hg38 4q12(chr4:56248102-57218522)x4 copy number gain See cases [RCV000137649] Chr4:56248102..57218522 [GRCh38]
Chr4:57114268..58084688 [GRCh37]
Chr4:56809025..57779445 [NCBI36]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.965A>G (p.His322Arg) single nucleotide variant Wilms tumor 6 [RCV000207458] Chr4:56919853 [GRCh38]
Chr4:57786019 [GRCh37]
Chr4:4q12
risk factor
NM_005612.5(REST):c.831_832del (p.Cys278fs) deletion Wilms tumor 6 [RCV000207462]|not provided [RCV001230375] Chr4:56911469..56911470 [GRCh38]
Chr4:57777635..57777636 [GRCh37]
Chr4:4q12
pathogenic|risk factor
NM_005612.5(REST):c.773_776del (p.Val258fs) deletion Wilms tumor 6 [RCV000207468] Chr4:56911409..56911412 [GRCh38]
Chr4:57777575..57777578 [GRCh37]
Chr4:4q12
pathogenic|risk factor
GRCh37/hg19 4q12(chr4:57759221-57795328)x3 copy number gain Premature ovarian failure [RCV000225294] Chr4:57759221..57795328 [GRCh37]
Chr4:4q12
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_005612.5(REST):c.2865_2866del (p.Asn958fs) deletion Fibromatosis, gingival, 5 [RCV000497680]|Gingival fibromatosis 1 [RCV000516014] Chr4:56931723..56931724 [GRCh38]
Chr4:57797889..57797890 [GRCh37]
Chr4:4q12
pathogenic|likely pathogenic
NM_005612.5(REST):c.1310T>A (p.Leu437Ter) single nucleotide variant Fibromatosis, gingival, 5 [RCV000498225]|Gingival fibromatosis 1 [RCV000516150] Chr4:56930168 [GRCh38]
Chr4:57796334 [GRCh37]
Chr4:4q12
pathogenic|likely pathogenic
NM_005612.5(REST):c.2413del (p.Leu805fs) deletion Fibromatosis, gingival, 5 [RCV000498949]|Gingival fibromatosis 1 [RCV000515908] Chr4:56931268 [GRCh38]
Chr4:57797434 [GRCh37]
Chr4:4q12
pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_005612.5(REST):c.2515G>T (p.Glu839Ter) single nucleotide variant Inborn genetic diseases [RCV000624224] Chr4:56931373 [GRCh38]
Chr4:57797539 [GRCh37]
Chr4:4q12
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_005612.5(REST):c.2464del (p.Glu822fs) deletion not provided [RCV000677291] Chr4:56931321 [GRCh38]
Chr4:57797487 [GRCh37]
Chr4:4q12
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_005612.5(REST):c.2227G>T (p.Glu743Ter) single nucleotide variant not provided [RCV000760805] Chr4:56931085 [GRCh38]
Chr4:57797251 [GRCh37]
Chr4:4q12
pathogenic
NM_005612.5(REST):c.595A>G (p.Arg199Gly) single nucleotide variant not provided [RCV001053987] Chr4:56911233 [GRCh38]
Chr4:57777399 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.983-2247C>G single nucleotide variant Deafness, autosomal dominant 27 [RCV000855719] Chr4:56927594 [GRCh38]
Chr4:57793760 [GRCh37]
Chr4:4q12
pathogenic
NM_005612.5(REST):c.1101T>C (p.Asp367=) single nucleotide variant not provided [RCV000923893] Chr4:56929959 [GRCh38]
Chr4:57796125 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1974G>A (p.Gln658=) single nucleotide variant not provided [RCV000970927] Chr4:56930832 [GRCh38]
Chr4:57796998 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2229_2276del (p.Gln746_Val761del) deletion not provided [RCV000949906] Chr4:56931052..56931099 [GRCh38]
Chr4:57797218..57797265 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1996C>T (p.Leu666=) single nucleotide variant not provided [RCV000958930] Chr4:56930854 [GRCh38]
Chr4:57797020 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2556G>A (p.Lys852=) single nucleotide variant not provided [RCV000968576] Chr4:56931414 [GRCh38]
Chr4:57797580 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2557G>C (p.Glu853Gln) single nucleotide variant not provided [RCV000882604] Chr4:56931415 [GRCh38]
Chr4:57797581 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1146A>G (p.Leu382=) single nucleotide variant not provided [RCV000921273] Chr4:56930004 [GRCh38]
Chr4:57796170 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2855A>G (p.Asp952Gly) single nucleotide variant not provided [RCV000923812] Chr4:56931713 [GRCh38]
Chr4:57797879 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2248T>A (p.Ser750Thr) single nucleotide variant not provided [RCV000922186] Chr4:56931106 [GRCh38]
Chr4:57797272 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2229G>A (p.Glu743=) single nucleotide variant not provided [RCV000971702] Chr4:56931087 [GRCh38]
Chr4:57797253 [GRCh37]
Chr4:4q12
benign|likely benign
NM_005612.5(REST):c.1520G>A (p.Gly507Glu) single nucleotide variant not provided [RCV001050392] Chr4:56930378 [GRCh38]
Chr4:57796544 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2491G>T (p.Ala831Ser) single nucleotide variant not provided [RCV001037851] Chr4:56931349 [GRCh38]
Chr4:57797515 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.422C>G (p.Pro141Arg) single nucleotide variant not provided [RCV001050838] Chr4:56911060 [GRCh38]
Chr4:57777226 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2055G>A (p.Met685Ile) single nucleotide variant not provided [RCV001040286] Chr4:56930913 [GRCh38]
Chr4:57797079 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1933C>T (p.Arg645Trp) single nucleotide variant not provided [RCV001045626] Chr4:56930791 [GRCh38]
Chr4:57796957 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2770C>T (p.Gln924Ter) single nucleotide variant Fibromatosis, gingival, 5 [RCV000995854] Chr4:56931628 [GRCh38]
Chr4:57797794 [GRCh37]
Chr4:4q12
likely pathogenic
NM_005612.5(REST):c.367C>G (p.Pro123Ala) single nucleotide variant not provided [RCV000884953] Chr4:56911005 [GRCh38]
Chr4:57777171 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2341T>C (p.Leu781=) single nucleotide variant not provided [RCV000942479] Chr4:56931199 [GRCh38]
Chr4:57797365 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1453G>A (p.Val485Met) single nucleotide variant not provided [RCV000895645] Chr4:56930311 [GRCh38]
Chr4:57796477 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2206C>T (p.Pro736Ser) single nucleotide variant not provided [RCV000948680]|not specified [RCV001354442] Chr4:56931064 [GRCh38]
Chr4:57797230 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1011C>T (p.Cys337=) single nucleotide variant not provided [RCV000895757] Chr4:56929869 [GRCh38]
Chr4:57796035 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.618A>C (p.Ala206=) single nucleotide variant not provided [RCV000886787] Chr4:56911256 [GRCh38]
Chr4:57777422 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2008G>A (p.Val670Met) single nucleotide variant not provided [RCV000886788] Chr4:56930866 [GRCh38]
Chr4:57797032 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.3293A>G (p.Ter1098=) single nucleotide variant not provided [RCV000918426] Chr4:56932151 [GRCh38]
Chr4:57798317 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2729C>T (p.Ala910Val) single nucleotide variant not provided [RCV000937214] Chr4:56931587 [GRCh38]
Chr4:57797753 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1884G>T (p.Val628=) single nucleotide variant not provided [RCV000982746] Chr4:56930742 [GRCh38]
Chr4:57796908 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.265dup (p.Glu89fs) duplication not provided [RCV000818840] Chr4:56910902..56910903 [GRCh38]
Chr4:57777068..57777069 [GRCh37]
Chr4:4q12
pathogenic
NM_005612.5(REST):c.2486A>G (p.Glu829Gly) single nucleotide variant not provided [RCV001054651] Chr4:56931344 [GRCh38]
Chr4:57797510 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2941G>C (p.Glu981Gln) single nucleotide variant not provided [RCV001058230] Chr4:56931799 [GRCh38]
Chr4:57797965 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1342A>G (p.Ile448Val) single nucleotide variant not provided [RCV001053637] Chr4:56930200 [GRCh38]
Chr4:57796366 [GRCh37]
Chr4:4q12
uncertain significance
GRCh37/hg19 4q12(chr4:57708847-57780602)x1 copy number loss not provided [RCV000846156] Chr4:57708847..57780602 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2340G>T (p.Glu780Asp) single nucleotide variant not provided [RCV001229697] Chr4:56931198 [GRCh38]
Chr4:57797364 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.527A>G (p.His176Arg) single nucleotide variant not provided [RCV001213984] Chr4:56911165 [GRCh38]
Chr4:57777331 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1889C>T (p.Pro630Leu) single nucleotide variant not provided [RCV001243115] Chr4:56930747 [GRCh38]
Chr4:57796913 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.593C>T (p.Ala198Val) single nucleotide variant not provided [RCV001241448] Chr4:56911231 [GRCh38]
Chr4:57777397 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2680C>T (p.Leu894Phe) single nucleotide variant not provided [RCV001239828] Chr4:56931538 [GRCh38]
Chr4:57797704 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1721G>C (p.Cys574Ser) single nucleotide variant not provided [RCV001210246] Chr4:56930579 [GRCh38]
Chr4:57796745 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2783C>T (p.Thr928Met) single nucleotide variant not provided [RCV001248568] Chr4:56931641 [GRCh38]
Chr4:57797807 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.3263A>G (p.Tyr1088Cys) single nucleotide variant not provided [RCV001212116] Chr4:56932121 [GRCh38]
Chr4:57798287 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.274G>A (p.Gly92Arg) single nucleotide variant not provided [RCV000886566] Chr4:56910912 [GRCh38]
Chr4:57777078 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2331T>G (p.Val777=) single nucleotide variant not provided [RCV000886196] Chr4:56931189 [GRCh38]
Chr4:57797355 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1615T>C (p.Ser539Pro) single nucleotide variant not provided [RCV000948276] Chr4:56930473 [GRCh38]
Chr4:57796639 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1431A>G (p.Lys477=) single nucleotide variant not provided [RCV000929161] Chr4:56930289 [GRCh38]
Chr4:57796455 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.3003G>A (p.Glu1001=) single nucleotide variant not provided [RCV000898574] Chr4:56931861 [GRCh38]
Chr4:57798027 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1542T>G (p.Ser514Arg) single nucleotide variant not provided [RCV001244389] Chr4:56930400 [GRCh38]
Chr4:57796566 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2277_2324del (p.Lys762_Val777del) deletion not provided [RCV001235982] Chr4:56931118..56931165 [GRCh38]
Chr4:57797284..57797331 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1582C>T (p.His528Tyr) single nucleotide variant not provided [RCV001213554] Chr4:56930440 [GRCh38]
Chr4:57796606 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2259_2306del (p.Met753_Pro768del) deletion not provided [RCV001224630] Chr4:56931095..56931142 [GRCh38]
Chr4:57797261..57797308 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.3164C>T (p.Ala1055Val) single nucleotide variant not provided [RCV001235209] Chr4:56932022 [GRCh38]
Chr4:57798188 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.351C>T (p.Ser117=) single nucleotide variant not provided [RCV000889469] Chr4:56910989 [GRCh38]
Chr4:57777155 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1946A>G (p.Asp649Gly) single nucleotide variant not provided [RCV000956215] Chr4:56930804 [GRCh38]
Chr4:57796970 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2103G>A (p.Met701Ile) single nucleotide variant not provided [RCV000956216] Chr4:56930961 [GRCh38]
Chr4:57797127 [GRCh37]
Chr4:4q12
benign
GRCh37/hg19 4q12(chr4:57067953-57957651)x3 copy number gain not provided [RCV001005548] Chr4:57067953..57957651 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2873A>C (p.Asn958Thr) single nucleotide variant not provided [RCV001055429] Chr4:56931731 [GRCh38]
Chr4:57797897 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1637A>G (p.Lys546Arg) single nucleotide variant not provided [RCV001069474] Chr4:56930495 [GRCh38]
Chr4:57796661 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2327C>T (p.Pro776Leu) single nucleotide variant not provided [RCV001058129] Chr4:56931185 [GRCh38]
Chr4:57797351 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1344A>G (p.Ile448Met) single nucleotide variant Wilms tumor 6 [RCV001526813]|not provided [RCV001212714] Chr4:56930202 [GRCh38]
Chr4:57796368 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1324A>G (p.Thr442Ala) single nucleotide variant not provided [RCV001213709] Chr4:56930182 [GRCh38]
Chr4:57796348 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.302G>A (p.Gly101Asp) single nucleotide variant not provided [RCV001051855] Chr4:56910940 [GRCh38]
Chr4:57777106 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2259G>A (p.Met753Ile) single nucleotide variant not provided [RCV001213261] Chr4:56931117 [GRCh38]
Chr4:57797283 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2179G>A (p.Glu727Lys) single nucleotide variant not provided [RCV001068521] Chr4:56931037 [GRCh38]
Chr4:57797203 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.3098A>G (p.His1033Arg) single nucleotide variant not provided [RCV001215115] Chr4:56931956 [GRCh38]
Chr4:57798122 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.440_441dup (p.Glu148fs) duplication not provided [RCV001041844] Chr4:56911076..56911077 [GRCh38]
Chr4:57777242..57777243 [GRCh37]
Chr4:4q12
pathogenic
GRCh37/hg19 4q12(chr4:57588857-57872994)x3 copy number gain not provided [RCV001258646] Chr4:57588857..57872994 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2813A>G (p.His938Arg) single nucleotide variant not provided [RCV001313088] Chr4:56931671 [GRCh38]
Chr4:57797837 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2824A>G (p.Ser942Gly) single nucleotide variant not provided [RCV001319263] Chr4:56931682 [GRCh38]
Chr4:57797848 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2347C>T (p.Pro783Ser) single nucleotide variant not provided [RCV001305547] Chr4:56931205 [GRCh38]
Chr4:57797371 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2225A>G (p.Lys742Arg) single nucleotide variant not provided [RCV001299646] Chr4:56931083 [GRCh38]
Chr4:57797249 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.70A>G (p.Met24Val) single nucleotide variant not provided [RCV001348285] Chr4:56910708 [GRCh38]
Chr4:57776874 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2494C>T (p.Arg832Trp) single nucleotide variant not provided [RCV001303688] Chr4:56931352 [GRCh38]
Chr4:57797518 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1343T>C (p.Ile448Thr) single nucleotide variant not provided [RCV001313302] Chr4:56930201 [GRCh38]
Chr4:57796367 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.843C>T (p.Cys281=) single nucleotide variant not provided [RCV001318758] Chr4:56911481 [GRCh38]
Chr4:57777647 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1639G>T (p.Val547Leu) single nucleotide variant not provided [RCV001325863] Chr4:56930497 [GRCh38]
Chr4:57796663 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1652C>G (p.Ser551Cys) single nucleotide variant not provided [RCV001337405] Chr4:56930510 [GRCh38]
Chr4:57796676 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2992G>A (p.Ala998Thr) single nucleotide variant not provided [RCV001296645] Chr4:56931850 [GRCh38]
Chr4:57798016 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1879C>G (p.Gln627Glu) single nucleotide variant not provided [RCV001340513] Chr4:56930737 [GRCh38]
Chr4:57796903 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.3137A>G (p.Asn1046Ser) single nucleotide variant not provided [RCV001306516] Chr4:56931995 [GRCh38]
Chr4:57798161 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.679C>T (p.Arg227Ter) single nucleotide variant Fibromatosis, gingival, 5 [RCV001335305] Chr4:56911317 [GRCh38]
Chr4:57777483 [GRCh37]
Chr4:4q12
pathogenic
NM_005612.5(REST):c.1656A>C (p.Lys552Asn) single nucleotide variant not provided [RCV001372196] Chr4:56930514 [GRCh38]
Chr4:57796680 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.556T>C (p.Phe186Leu) single nucleotide variant not provided [RCV001372586] Chr4:56911194 [GRCh38]
Chr4:57777360 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.659G>A (p.Arg220His) single nucleotide variant not provided [RCV001369307] Chr4:56911297 [GRCh38]
Chr4:57777463 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1284G>A (p.Lys428=) single nucleotide variant not provided [RCV001421761] Chr4:56930142 [GRCh38]
Chr4:57796308 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.111C>G (p.Ser37=) single nucleotide variant not provided [RCV001415326] Chr4:56910749 [GRCh38]
Chr4:57776915 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1747A>G (p.Thr583Ala) single nucleotide variant not provided [RCV001312298] Chr4:56930605 [GRCh38]
Chr4:57796771 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.3156A>G (p.Ala1052=) single nucleotide variant not provided [RCV001423132] Chr4:56932014 [GRCh38]
Chr4:57798180 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.296T>C (p.Ile99Thr) single nucleotide variant not provided [RCV001343405] Chr4:56910934 [GRCh38]
Chr4:57777100 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2182C>G (p.Pro728Ala) single nucleotide variant not provided [RCV001364099] Chr4:56931040 [GRCh38]
Chr4:57797206 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.419T>G (p.Leu140Arg) single nucleotide variant not provided [RCV001344821] Chr4:56911057 [GRCh38]
Chr4:57777223 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2083C>G (p.Gln695Glu) single nucleotide variant not provided [RCV001340762] Chr4:56930941 [GRCh38]
Chr4:57797107 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2087C>T (p.Thr696Met) single nucleotide variant not provided [RCV001373963] Chr4:56930945 [GRCh38]
Chr4:57797111 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2735A>C (p.Asn912Thr) single nucleotide variant not provided [RCV001322230] Chr4:56931593 [GRCh38]
Chr4:57797759 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2909T>A (p.Val970Asp) single nucleotide variant not provided [RCV001347368] Chr4:56931767 [GRCh38]
Chr4:57797933 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2774A>G (p.Asn925Ser) single nucleotide variant not provided [RCV001374217] Chr4:56931632 [GRCh38]
Chr4:57797798 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2581TCACCACCA[1] (p.861SPP[1]) microsatellite not provided [RCV001307048] Chr4:56931439..56931447 [GRCh38]
Chr4:57797605..57797613 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2065C>T (p.Pro689Ser) single nucleotide variant not provided [RCV001320823] Chr4:56930923 [GRCh38]
Chr4:57797089 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.147G>A (p.Leu49=) single nucleotide variant not provided [RCV001370756] Chr4:56910785 [GRCh38]
Chr4:57776951 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2318A>G (p.Gln773Arg) single nucleotide variant not provided [RCV001323699] Chr4:56931176 [GRCh38]
Chr4:57797342 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1925C>T (p.Ala642Val) single nucleotide variant not provided [RCV001315343] Chr4:56930783 [GRCh38]
Chr4:57796949 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.92A>G (p.Tyr31Cys) single nucleotide variant not provided [RCV001341699] Chr4:56910730 [GRCh38]
Chr4:57776896 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2560A>G (p.Ser854Gly) single nucleotide variant not provided [RCV001366190] Chr4:56931418 [GRCh38]
Chr4:57797584 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.457A>G (p.Ser153Gly) single nucleotide variant not provided [RCV001295758] Chr4:56911095 [GRCh38]
Chr4:57777261 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1640T>C (p.Val547Ala) single nucleotide variant not provided [RCV001305378] Chr4:56930498 [GRCh38]
Chr4:57796664 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.222A>G (p.Ala74=) single nucleotide variant not provided [RCV001395357] Chr4:56910860 [GRCh38]
Chr4:57777026 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2068C>T (p.Pro690Ser) single nucleotide variant not provided [RCV001351997] Chr4:56930926 [GRCh38]
Chr4:57797092 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.239G>A (p.Gly80Glu) single nucleotide variant not provided [RCV001368214] Chr4:56910877 [GRCh38]
Chr4:57777043 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1900A>G (p.Met634Val) single nucleotide variant not provided [RCV001316501] Chr4:56930758 [GRCh38]
Chr4:57796924 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2018C>T (p.Ala673Val) single nucleotide variant not provided [RCV001300634] Chr4:56930876 [GRCh38]
Chr4:57797042 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2443C>T (p.Pro815Ser) single nucleotide variant not provided [RCV001357093] Chr4:56931301 [GRCh38]
Chr4:57797467 [GRCh37]
Chr4:4q12
benign|uncertain significance
NM_005612.5(REST):c.2541T>C (p.Asp847=) single nucleotide variant not provided [RCV001412802] Chr4:56931399 [GRCh38]
Chr4:57797565 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2305A>G (p.Ile769Val) single nucleotide variant not provided [RCV001312545] Chr4:56931163 [GRCh38]
Chr4:57797329 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2996C>G (p.Ala999Gly) single nucleotide variant not provided [RCV001326110] Chr4:56931854 [GRCh38]
Chr4:57798020 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1948G>A (p.Glu650Lys) single nucleotide variant not provided [RCV001324993] Chr4:56930806 [GRCh38]
Chr4:57796972 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.858C>G (p.Asp286Glu) single nucleotide variant not provided [RCV001313216] Chr4:56911496 [GRCh38]
Chr4:57777662 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2603C>T (p.Pro868Leu) single nucleotide variant not provided [RCV001358314] Chr4:56931461 [GRCh38]
Chr4:57797627 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.2413C>G (p.Leu805Val) single nucleotide variant not provided [RCV001366058] Chr4:56931271 [GRCh38]
Chr4:57797437 [GRCh37]
Chr4:4q12
uncertain significance
NM_005612.5(REST):c.1279C>T (p.Leu427=) single nucleotide variant not provided [RCV001481341] Chr4:56930137 [GRCh38]
Chr4:57796303 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1902G>A (p.Met634Ile) single nucleotide variant not provided [RCV001470203] Chr4:56930760 [GRCh38]
Chr4:57796926 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2013G>T (p.Glu671Asp) single nucleotide variant not provided [RCV001520164] Chr4:56930871 [GRCh38]
Chr4:57797037 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.663C>T (p.Cys221=) single nucleotide variant not provided [RCV001399513] Chr4:56911301 [GRCh38]
Chr4:57777467 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2844A>G (p.Lys948=) single nucleotide variant not provided [RCV001473565] Chr4:56931702 [GRCh38]
Chr4:57797868 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.528T>C (p.His176=) single nucleotide variant not provided [RCV001496445] Chr4:56911166 [GRCh38]
Chr4:57777332 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2442T>G (p.Pro814=) single nucleotide variant not provided [RCV001491145] Chr4:56931300 [GRCh38]
Chr4:57797466 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2284A>C (p.Lys762Gln) single nucleotide variant not provided [RCV001511562] Chr4:56931142 [GRCh38]
Chr4:57797308 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1719T>G (p.Thr573=) single nucleotide variant not provided [RCV001488578] Chr4:56930577 [GRCh38]
Chr4:57796743 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2236C>A (p.Gln746Lys) single nucleotide variant not provided [RCV001511744] Chr4:56931094 [GRCh38]
Chr4:57797260 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2958C>A (p.Ser986=) single nucleotide variant not provided [RCV001512165] Chr4:56931816 [GRCh38]
Chr4:57797982 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2826T>C (p.Ser942=) single nucleotide variant not provided [RCV001415906] Chr4:56931684 [GRCh38]
Chr4:57797850 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1875C>T (p.Pro625=) single nucleotide variant not provided [RCV001513811] Chr4:56930733 [GRCh38]
Chr4:57796899 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.3225C>T (p.Tyr1075=) single nucleotide variant not provided [RCV001467371] Chr4:56932083 [GRCh38]
Chr4:57798249 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2390C>T (p.Pro797Leu) single nucleotide variant not provided [RCV001518010] Chr4:56931248 [GRCh38]
Chr4:57797414 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2644T>A (p.Leu882Ile) single nucleotide variant not provided [RCV001419507] Chr4:56931502 [GRCh38]
Chr4:57797668 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.183CTG[1] (p.Cys63del) microsatellite not provided [RCV001493653] Chr4:56910820..56910822 [GRCh38]
Chr4:57776986..57776988 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1947C>T (p.Asp649=) single nucleotide variant not provided [RCV001443260] Chr4:56930805 [GRCh38]
Chr4:57796971 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2955G>A (p.Val985=) single nucleotide variant not provided [RCV001443749] Chr4:56931813 [GRCh38]
Chr4:57797979 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1452A>G (p.Ser484=) single nucleotide variant not provided [RCV001428886] Chr4:56930310 [GRCh38]
Chr4:57796476 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.873T>C (p.Tyr291=) single nucleotide variant not provided [RCV001449430] Chr4:56911511 [GRCh38]
Chr4:57777677 [GRCh37]
Chr4:4q12
likely benign
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Partial albinism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1
pathogenic
NM_005612.5(REST):c.2287A>G (p.Ile763Val) single nucleotide variant not provided [RCV001407794] Chr4:56931145 [GRCh38]
Chr4:57797311 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.3258G>A (p.Val1086=) single nucleotide variant not provided [RCV001436310] Chr4:56932116 [GRCh38]
Chr4:57798282 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1071G>T (p.Gly357=) single nucleotide variant not provided [RCV001401688] Chr4:56929929 [GRCh38]
Chr4:57796095 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2571A>G (p.Thr857=) single nucleotide variant not provided [RCV001430061] Chr4:56931429 [GRCh38]
Chr4:57797595 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.3171G>A (p.Lys1057=) single nucleotide variant not provided [RCV001514958] Chr4:56932029 [GRCh38]
Chr4:57798195 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2326C>G (p.Pro776Ala) single nucleotide variant not provided [RCV001519630] Chr4:56931184 [GRCh38]
Chr4:57797350 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1266C>T (p.Val422=) single nucleotide variant not provided [RCV001473274] Chr4:56930124 [GRCh38]
Chr4:57796290 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.3267T>G (p.Leu1089=) single nucleotide variant not provided [RCV001491240] Chr4:56932125 [GRCh38]
Chr4:57798291 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2778G>A (p.Leu926=) single nucleotide variant not provided [RCV001458835] Chr4:56931636 [GRCh38]
Chr4:57797802 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.3165G>A (p.Ala1055=) single nucleotide variant not provided [RCV001522085] Chr4:56932023 [GRCh38]
Chr4:57798189 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.234G>T (p.Pro78=) single nucleotide variant not provided [RCV001512767] Chr4:56910872 [GRCh38]
Chr4:57777038 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.354C>T (p.Val118=) single nucleotide variant not provided [RCV001504320] Chr4:56910992 [GRCh38]
Chr4:57777158 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.150A>T (p.Ala50=) single nucleotide variant not provided [RCV001498708] Chr4:56910788 [GRCh38]
Chr4:57776954 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.1095C>T (p.His365=) single nucleotide variant not provided [RCV001518589] Chr4:56929953 [GRCh38]
Chr4:57796119 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2333A>G (p.Gln778Arg) single nucleotide variant not provided [RCV001436061] Chr4:56931191 [GRCh38]
Chr4:57797357 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.753C>T (p.Ile251=) single nucleotide variant not provided [RCV001457506] Chr4:56911391 [GRCh38]
Chr4:57777557 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.441G>A (p.Ala147=) single nucleotide variant not provided [RCV001477516] Chr4:56911079 [GRCh38]
Chr4:57777245 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.720A>G (p.Arg240=) single nucleotide variant not provided [RCV001502643] Chr4:56911358 [GRCh38]
Chr4:57777524 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2457T>C (p.Asp819=) single nucleotide variant not provided [RCV001521484] Chr4:56931315 [GRCh38]
Chr4:57797481 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.1876G>A (p.Val626Ile) single nucleotide variant not provided [RCV001514928] Chr4:56930734 [GRCh38]
Chr4:57796900 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.3150C>G (p.Ala1050=) single nucleotide variant not provided [RCV001514929] Chr4:56932008 [GRCh38]
Chr4:57798174 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.3120A>G (p.Gln1040=) single nucleotide variant not provided [RCV001521787] Chr4:56931978 [GRCh38]
Chr4:57798144 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2076G>T (p.Glu692Asp) single nucleotide variant not provided [RCV001511561] Chr4:56930934 [GRCh38]
Chr4:57797100 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.2907A>G (p.Pro969=) single nucleotide variant not provided [RCV001400723] Chr4:56931765 [GRCh38]
Chr4:57797931 [GRCh37]
Chr4:4q12
likely benign
NM_005612.5(REST):c.2203C>T (p.Pro735Ser) single nucleotide variant not provided [RCV001515494] Chr4:56931061 [GRCh38]
Chr4:57797227 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.612C>T (p.Ser204=) single nucleotide variant not provided [RCV001517741] Chr4:56911250 [GRCh38]
Chr4:57777416 [GRCh37]
Chr4:4q12
benign
NM_005612.5(REST):c.324C>T (p.Asn108=) single nucleotide variant not provided [RCV001463581] Chr4:56910962 [GRCh38]
Chr4:57777128 [GRCh37]
Chr4:4q12
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9966 AgrOrtholog
COSMIC REST COSMIC
Ensembl Genes ENSG00000084093 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000311816 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479151 UniProtKB/TrEMBL
  ENSP00000481650 UniProtKB/TrEMBL
  ENSP00000484058 UniProtKB/TrEMBL
  ENSP00000484836 UniProtKB/TrEMBL
  ENSP00000490969 UniProtKB/TrEMBL
  ENSP00000492006 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000492813 UniProtKB/TrEMBL
  ENSP00000501649 UniProtKB/TrEMBL
  ENSP00000502313 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502488 UniProtKB/TrEMBL
Ensembl Transcript ENST00000309042 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000514063 UniProtKB/TrEMBL
  ENST00000611211 UniProtKB/TrEMBL
  ENST00000616975 UniProtKB/TrEMBL
  ENST00000619101 UniProtKB/TrEMBL
  ENST00000622863 UniProtKB/TrEMBL
  ENST00000638187 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000640168 UniProtKB/TrEMBL
  ENST00000640343 UniProtKB/TrEMBL
  ENST00000675105 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675341 UniProtKB/TrEMBL
GTEx ENSG00000084093 GTEx
HGNC ID HGNC:9966 ENTREZGENE
Human Proteome Map REST Human Proteome Map
InterPro REST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5978 UniProtKB/Swiss-Prot
NCBI Gene 5978 ENTREZGENE
OMIM 600571 OMIM
  612431 OMIM
  616806 OMIM
  617626 OMIM
PANTHER PTHR24403:SF64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/TrEMBL
PharmGKB PA34334 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1C2_HUMAN UniProtKB/TrEMBL
  A0A1W2PQA1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH19_HUMAN UniProtKB/TrEMBL
  A0PJ83_HUMAN UniProtKB/TrEMBL
  L0B1R1_HUMAN UniProtKB/TrEMBL
  L0B1R5_HUMAN UniProtKB/TrEMBL
  L0B1S6_HUMAN UniProtKB/TrEMBL
  L0B1U4_HUMAN UniProtKB/TrEMBL
  L0B1U9_HUMAN UniProtKB/TrEMBL
  L0B1V4_HUMAN UniProtKB/TrEMBL
  L0B2U7_HUMAN UniProtKB/TrEMBL
  L0B2V3_HUMAN UniProtKB/TrEMBL
  L0B2V9_HUMAN UniProtKB/TrEMBL
  L0B3M6_HUMAN UniProtKB/TrEMBL
  L0B3N3_HUMAN UniProtKB/TrEMBL
  L0B3Y5_HUMAN UniProtKB/TrEMBL
  L0B3Z2_HUMAN UniProtKB/TrEMBL
  L0B3Z9_HUMAN UniProtKB/TrEMBL
  Q13127 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A2RUE0 UniProtKB/Swiss-Prot
  B9EGJ0 UniProtKB/Swiss-Prot
  Q12956 UniProtKB/Swiss-Prot
  Q12957 UniProtKB/Swiss-Prot
  Q13134 UniProtKB/Swiss-Prot
  Q59ER1 UniProtKB/Swiss-Prot
  Q8IWI3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 REST  RE1 silencing transcription factor    RE1-silencing transcription factor  Symbol and/or name change 5135510 APPROVED