ERMARD (ER membrane associated RNA degradation) - Rat Genome Database

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Gene: ERMARD (ER membrane associated RNA degradation) Homo sapiens
Analyze
Symbol: ERMARD
Name: ER membrane associated RNA degradation
RGD ID: 1319689
HGNC Page HGNC
Description: Predicted to be involved in multicellular organism development. Predicted to localize to endoplasmic reticulum membrane and integral component of membrane. Implicated in periventricular nodular heterotopia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C6orf70; dJ266L20.3; endoplasmic reticulum membrane-associated RNA degradation protein; ER membrane-associated RNA degradation; ER membrane-associated RNA degradation protein; FLJ11152; PVNH6; transmembrane protein C6orf70
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 Ensembl6169,751,622 - 169,781,600 (+)EnsemblGRCh38hg38GRCh38
GRCh386169,751,622 - 169,781,600 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376170,151,718 - 170,181,696 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366169,893,646 - 169,923,542 (+)NCBINCBI36hg18NCBI36
Build 346169,969,352 - 169,999,240NCBI
Celera6170,861,896 - 170,891,792 (+)NCBI
Cytogenetic Map6q27NCBI
HuRef6167,571,485 - 167,601,446 (+)NCBIHuRef
CHM1_16170,413,940 - 170,443,916 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal heart valve morphology  (IAGP)
Aortic aneurysm  (IAGP)
Aortic regurgitation  (IAGP)
Aplasia/Hypoplasia of the ribs  (IAGP)
Autosomal dominant inheritance  (IAGP)
Broad philtrum  (IAGP)
Cerebellar hypoplasia  (IAGP)
Clinodactyly  (IAGP)
Colpocephaly  (IAGP)
Delayed speech and language development  (IAGP)
Dolichocephaly  (IAGP)
Dysmetria  (IAGP)
Failure to thrive  (IAGP)
Focal-onset seizure  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Gynecomastia  (IAGP)
Hallux valgus  (IAGP)
Hernia  (IAGP)
High, narrow palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperkeratosis  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability, mild  (IAGP)
Joint hypermobility  (IAGP)
Joint laxity  (IAGP)
Low anterior hairline  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrocephaly  (IAGP)
Micrognathia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Periventricular heterotopia  (IAGP)
Periventricular nodular heterotopia  (IAGP)
Phimosis  (IAGP)
Plagiocephaly  (IAGP)
Polymicrogyria  (IAGP)
Prominent forehead  (IAGP)
Prominent metopic ridge  (IAGP)
Pyloric stenosis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Shoulder dislocation  (IAGP)
Strabismus  (IAGP)
Talipes calcaneovalgus  (IAGP)
Thick vermilion border  (IAGP)
Thin skin  (IAGP)
Wide intermamillary distance  (IAGP)
References

Additional References at PubMed
PMID:12107410   PMID:12477932   PMID:14702039   PMID:16344560   PMID:23768067   PMID:24056535   PMID:28611215  


Genomics

Comparative Map Data
ERMARD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6169,751,622 - 169,781,600 (+)EnsemblGRCh38hg38GRCh38
GRCh386169,751,622 - 169,781,600 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376170,151,718 - 170,181,696 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366169,893,646 - 169,923,542 (+)NCBINCBI36hg18NCBI36
Build 346169,969,352 - 169,999,240NCBI
Celera6170,861,896 - 170,891,792 (+)NCBI
Cytogenetic Map6q27NCBI
HuRef6167,571,485 - 167,601,446 (+)NCBIHuRef
CHM1_16170,413,940 - 170,443,916 (+)NCBICHM1_1
Ermard
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391715,261,813 - 15,310,307 (+)NCBIGRCm39mm39
GRCm39 Ensembl1715,261,470 - 15,310,306 (+)Ensembl
GRCm381715,041,551 - 15,090,045 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1715,041,208 - 15,090,044 (+)EnsemblGRCm38mm10GRCm38
MGSCv371715,178,576 - 15,201,196 (+)NCBIGRCm37mm9NCBIm37
MGSCv361714,715,200 - 14,769,186 (+)NCBImm8
Celera1715,839,838 - 15,854,990 (+)NCBICelera
Cytogenetic Map17A2NCBI
Ermard
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2155,983,312 - 56,004,569 (+)NCBI
Rnor_6.0 Ensembl156,982,821 - 57,001,665 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0156,982,742 - 57,008,076 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0158,165,821 - 58,185,153 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4153,905,895 - 53,925,656 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1153,909,505 - 53,916,096 (+)NCBI
Celera152,195,633 - 52,219,900 (+)NCBICelera
Cytogenetic Map1q12NCBI
Ermard
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554113,835,751 - 3,865,321 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554113,838,125 - 3,866,282 (-)NCBIChiLan1.0ChiLan1.0
ERMARD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16172,863,406 - 172,891,822 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6172,861,675 - 172,891,822 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06167,823,630 - 167,854,200 (+)NCBIMhudiblu_PPA_v0panPan3
ERMARD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11271,998,431 - 72,024,726 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1271,998,437 - 72,023,512 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1271,758,577 - 71,783,581 (+)NCBI
ROS_Cfam_1.01272,880,117 - 72,905,280 (+)NCBI
UMICH_Zoey_3.11272,232,744 - 72,257,762 (+)NCBI
UNSW_CanFamBas_1.01272,073,611 - 72,098,576 (+)NCBI
UU_Cfam_GSD_1.01272,463,145 - 72,489,411 (+)NCBI
Ermard
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946150,949,595 - 150,989,755 (+)NCBI
SpeTri2.0NW_00493648918,201,790 - 18,244,810 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERMARD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1512,676 - 540,898 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11513,364 - 540,948 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.211,069,587 - 1,092,011 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERMARD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11397,558,822 - 97,592,030 (+)NCBI
Ermard
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248505,683,191 - 5,709,015 (+)NCBI

Position Markers
G63713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,157,091 - 170,157,397UniSTSGRCh37
Build 366169,899,016 - 169,899,322RGDNCBI36
Celera6170,867,266 - 170,867,572RGD
Cytogenetic Map6q27UniSTS
HuRef6167,576,858 - 167,577,164UniSTS
TNG Radiation Hybrid Map685097.0UniSTS
SHGC-149278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,162,543 - 170,162,879UniSTSGRCh37
Build 366169,904,468 - 169,904,804RGDNCBI36
Celera6170,872,718 - 170,873,054RGD
Cytogenetic Map6q27UniSTS
HuRef6167,582,310 - 167,582,646UniSTS
TNG Radiation Hybrid Map685093.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1915
Count of miRNA genes:759
Interacting mature miRNAs:859
Transcripts:ENST00000366771, ENST00000366772, ENST00000366773, ENST00000392095, ENST00000418781, ENST00000477995, ENST00000492738, ENST00000586341, ENST00000588437, ENST00000588451, ENST00000590017, ENST00000590711, ENST00000592315, ENST00000592367, ENST00000592580, ENST00000592745
Prediction methods:Microtar, 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 2112 1355 1553 462 1149 315 3602 1164 2539 261 1346 1407 157 1147 2230 3 1
Low 327 1631 173 162 797 150 754 1033 1195 158 113 206 17 1 57 558 3 1
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_942506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_942508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA909435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI522177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA396814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA650477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,767,015 - 169,781,584 (+)Ensembl
RefSeq Acc Id: ENST00000366772   ⟹   ENSP00000355734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,622 - 169,781,584 (+)Ensembl
RefSeq Acc Id: ENST00000366773   ⟹   ENSP00000355735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,622 - 169,781,600 (+)Ensembl
RefSeq Acc Id: ENST00000392095   ⟹   ENSP00000375945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,625 - 169,781,520 (+)Ensembl
RefSeq Acc Id: ENST00000418781   ⟹   ENSP00000397661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,638 - 169,781,516 (+)Ensembl
RefSeq Acc Id: ENST00000477995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,775,878 - 169,781,516 (+)Ensembl
RefSeq Acc Id: ENST00000492738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,773,044 - 169,776,550 (+)Ensembl
RefSeq Acc Id: ENST00000586341   ⟹   ENSP00000468124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,638 - 169,759,857 (+)Ensembl
RefSeq Acc Id: ENST00000588437   ⟹   ENSP00000467665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,648 - 169,756,415 (+)Ensembl
RefSeq Acc Id: ENST00000588451   ⟹   ENSP00000468240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,797 - 169,781,517 (+)Ensembl
RefSeq Acc Id: ENST00000590017   ⟹   ENSP00000466335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,753,905 - 169,759,923 (+)Ensembl
RefSeq Acc Id: ENST00000590711   ⟹   ENSP00000466474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,622 - 169,759,060 (+)Ensembl
RefSeq Acc Id: ENST00000592315   ⟹   ENSP00000467582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,625 - 169,758,984 (+)Ensembl
RefSeq Acc Id: ENST00000592367   ⟹   ENSP00000468722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,622 - 169,756,735 (+)Ensembl
RefSeq Acc Id: ENST00000592580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,638 - 169,755,655 (+)Ensembl
RefSeq Acc Id: ENST00000592745   ⟹   ENSP00000466679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6169,751,625 - 169,756,764 (+)Ensembl
RefSeq Acc Id: NM_001278531   ⟹   NP_001265460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,622 - 169,781,600 (+)NCBI
GRCh376170,151,718 - 170,181,680 (+)NCBI
HuRef6167,571,485 - 167,601,446 (+)NCBI
CHM1_16170,413,940 - 170,443,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278532   ⟹   NP_001265461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,622 - 169,781,600 (+)NCBI
GRCh376170,151,718 - 170,181,680 (+)NCBI
HuRef6167,571,485 - 167,601,446 (+)NCBI
CHM1_16170,413,940 - 170,443,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278533   ⟹   NP_001265462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,622 - 169,781,600 (+)NCBI
GRCh376170,151,718 - 170,181,680 (+)NCBI
HuRef6167,571,485 - 167,601,446 (+)NCBI
CHM1_16170,413,940 - 170,443,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018341   ⟹   NP_060811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,622 - 169,781,600 (+)NCBI
GRCh376170,151,718 - 170,181,680 (+)NCBI
Build 366169,893,646 - 169,923,542 (+)NCBI Archive
Celera6170,861,896 - 170,891,792 (+)RGD
HuRef6167,571,485 - 167,601,446 (+)NCBI
CHM1_16170,413,940 - 170,443,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535938   ⟹   XP_011534240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,625 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535939   ⟹   XP_011534241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,752,241 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535940   ⟹   XP_011534242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,752,241 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011027   ⟹   XP_016866516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,752,241 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011028   ⟹   XP_016866517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,671 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011029   ⟹   XP_016866518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,638 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011030   ⟹   XP_016866519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,645 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011031   ⟹   XP_016866520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,753,944 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011032   ⟹   XP_016866521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,752,241 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011033   ⟹   XP_016866522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,752,241 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446486   ⟹   XP_024302254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,625 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446487   ⟹   XP_024302255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,625 - 169,781,583 (+)NCBI
Sequence:
RefSeq Acc Id: XR_942506
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,625 - 169,781,523 (+)NCBI
Sequence:
RefSeq Acc Id: XR_942508
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,625 - 169,781,523 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060811   ⟸   NM_018341
- Peptide Label: isoform 1
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265460   ⟸   NM_001278531
- Peptide Label: isoform 2
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265462   ⟸   NM_001278533
- Peptide Label: isoform 4
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265461   ⟸   NM_001278532
- Peptide Label: isoform 3
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534240   ⟸   XM_011535938
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011534241   ⟸   XM_011535939
- Peptide Label: isoform X3
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534242   ⟸   XM_011535940
- Peptide Label: isoform X3
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866518   ⟸   XM_017011029
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016866519   ⟸   XM_017011030
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016866517   ⟸   XM_017011028
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016866521   ⟸   XM_017011032
- Peptide Label: isoform X3
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866516   ⟸   XM_017011027
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016866522   ⟸   XM_017011033
- Peptide Label: isoform X3
- UniProtKB: Q5T6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866520   ⟸   XM_017011031
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024302254   ⟸   XM_024446486
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024302255   ⟸   XM_024446487
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000468124   ⟸   ENST00000586341
RefSeq Acc Id: ENSP00000468240   ⟸   ENST00000588451
RefSeq Acc Id: ENSP00000467665   ⟸   ENST00000588437
RefSeq Acc Id: ENSP00000397661   ⟸   ENST00000418781
RefSeq Acc Id: ENSP00000355734   ⟸   ENST00000366772
RefSeq Acc Id: ENSP00000355735   ⟸   ENST00000366773
RefSeq Acc Id: ENSP00000375945   ⟸   ENST00000392095
RefSeq Acc Id: ENSP00000466335   ⟸   ENST00000590017
RefSeq Acc Id: ENSP00000466474   ⟸   ENST00000590711
RefSeq Acc Id: ENSP00000466679   ⟸   ENST00000592745
RefSeq Acc Id: ENSP00000467582   ⟸   ENST00000592315
RefSeq Acc Id: ENSP00000468722   ⟸   ENST00000592367
Protein Domains
DUF4209

Promoters
RGD ID:7209705
Promoter ID:EPDNEW_H10598
Type:initiation region
Name:ERMARD_1
Description:ER membrane associated RNA degradation
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10596  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,751,625 - 169,751,685EPDNEW
RGD ID:6803872
Promoter ID:HG_KWN:55850
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366772,   OTTHUMT00000043238,   OTTHUMT00000043243,   UC003QXF.2,   UC003QXH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366169,893,364 - 169,893,864 (+)MPROMDB
RGD ID:6803867
Promoter ID:HG_KWN:55851
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC010KKY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366169,894,686 - 169,895,186 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018341.3(ERMARD):c.1130T>A (p.Ile377Asn) single nucleotide variant Periventricular nodular heterotopia 6 [RCV000074458] Chr6:169769610 [GRCh38]
Chr6:170169706 [GRCh37]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168524169-170612001)x1 copy number loss See cases [RCV000050982] Chr6:168524169..170612001 [GRCh38]
Chr6:168924849..170921089 [GRCh37]
Chr6:168667698..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169441378-170612001)x1 copy number loss See cases [RCV000050605] Chr6:169441378..170612001 [GRCh38]
Chr6:169841473..170921089 [GRCh37]
Chr6:169583398..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169641704-170612001)x1 copy number loss See cases [RCV000051219] Chr6:169641704..170612001 [GRCh38]
Chr6:170041800..170921089 [GRCh37]
Chr6:169783725..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167838308-170581020)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|See cases [RCV000052228] Chr6:167838308..170581020 [GRCh38]
Chr6:168238988..170890108 [GRCh37]
Chr6:167981837..170732033 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167924952-170602152)x1 copy number loss See cases [RCV000052229] Chr6:167924952..170602152 [GRCh38]
Chr6:168325632..170911240 [GRCh37]
Chr6:168068481..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168180473-170583214)x1 copy number loss See cases [RCV000052230] Chr6:168180473..170583214 [GRCh38]
Chr6:168581153..170892302 [GRCh37]
Chr6:168324002..170734227 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169021176-170602152)x1 copy number loss See cases [RCV000052243] Chr6:169021176..170602152 [GRCh38]
Chr6:169421271..170911240 [GRCh37]
Chr6:169163196..170753165 [NCBI36]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.563T>C (p.Val188Ala) single nucleotide variant not provided [RCV000515104] Chr6:169759023 [GRCh38]
Chr6:170159119 [GRCh37]
Chr6:6q27
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169688809-170583214)x1 copy number loss See cases [RCV000136831] Chr6:169688809..170583214 [GRCh38]
Chr6:170088905..170892302 [GRCh37]
Chr6:169830830..170734227 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167145050-170714507)x1 copy number loss See cases [RCV000137523] Chr6:167145050..170714507 [GRCh38]
Chr6:167558538..171023595 [GRCh37]
Chr6:167478528..170865520 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168802993-170714507)x1 copy number loss See cases [RCV000137643] Chr6:168802993..170714507 [GRCh38]
Chr6:169203088..171023595 [GRCh37]
Chr6:168945013..170865520 [NCBI36]
Chr6:6q27
likely pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q27(chr6:168881467-170602152)x1 copy number loss See cases [RCV000137746] Chr6:168881467..170602152 [GRCh38]
Chr6:169281562..170911240 [GRCh37]
Chr6:169023487..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168581259-170610394)x1 copy number loss See cases [RCV000140451] Chr6:168581259..170610394 [GRCh38]
Chr6:168981939..170919482 [GRCh37]
Chr6:168724788..170761407 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q27(chr6:167963618-170597678)x1 copy number loss See cases [RCV000139526] Chr6:167963618..170597678 [GRCh38]
Chr6:168364298..170906766 [GRCh37]
Chr6:168107147..170748691 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167896913-170714507)x1 copy number loss See cases [RCV000140812] Chr6:167896913..170714507 [GRCh38]
Chr6:168297593..171023595 [GRCh37]
Chr6:168040442..170865520 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q27(chr6:167760366-170610394)x1 copy number loss See cases [RCV000143582] Chr6:167760366..170610394 [GRCh38]
Chr6:168161046..170919482 [GRCh37]
Chr6:167903895..170761407 [NCBI36]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) single nucleotide variant not provided [RCV000954262]|not specified [RCV000239187] Chr6:169773331 [GRCh38]
Chr6:170173427 [GRCh37]
Chr6:6q27
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.1072del (p.Asp358fs) deletion Periventricular nodular heterotopia 6 [RCV001169928] Chr6:169769550 [GRCh38]
Chr6:170169646 [GRCh37]
Chr6:6q27
uncertain significance
NM_018341.3(ERMARD):c.826G>A (p.Glu276Lys) single nucleotide variant not provided [RCV000923266]|not specified [RCV000601525] Chr6:169760725 [GRCh38]
Chr6:170160821 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:170103349-170201866)x1 copy number loss See cases [RCV000449237] Chr6:170103349..170201866 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:169131334-170919482)x3 copy number gain See cases [RCV000446893] Chr6:169131334..170919482 [GRCh37]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.1513A>G (p.Thr505Ala) single nucleotide variant not specified [RCV000427225] Chr6:169776058 [GRCh38]
Chr6:170176154 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1739+18T>C single nucleotide variant not specified [RCV000431069] Chr6:169776691 [GRCh38]
Chr6:170176787 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1618A>G (p.Ser540Gly) single nucleotide variant not specified [RCV000420811] Chr6:169776552 [GRCh38]
Chr6:170176648 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1899C>T (p.Tyr633=) single nucleotide variant not provided [RCV000975139]|not specified [RCV000423926] Chr6:169781375 [GRCh38]
Chr6:170181471 [GRCh37]
Chr6:6q27
benign|likely benign
NM_018341.3(ERMARD):c.1234-16G>C single nucleotide variant not specified [RCV000438081] Chr6:169773303 [GRCh38]
Chr6:170173399 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.819A>G (p.Pro273=) single nucleotide variant not provided [RCV000961773]|not specified [RCV000427857] Chr6:169760718 [GRCh38]
Chr6:170160814 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1329T>C (p.Cys443=) single nucleotide variant not provided [RCV000907501]|not specified [RCV000435032] Chr6:169775281 [GRCh38]
Chr6:170175377 [GRCh37]
Chr6:6q27
benign|likely benign
NM_018341.3(ERMARD):c.1112A>G (p.His371Arg) single nucleotide variant not specified [RCV000438311] Chr6:169769592 [GRCh38]
Chr6:170169688 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.6+7C>T single nucleotide variant not specified [RCV000441981] Chr6:169751670 [GRCh38]
Chr6:170151766 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.9A>C (p.Val3=) single nucleotide variant not specified [RCV000442041] Chr6:169753866 [GRCh38]
Chr6:170153962 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.-29A>T single nucleotide variant not specified [RCV000424607] Chr6:169751629 [GRCh38]
Chr6:170151725 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1901C>T (p.Thr634Ile) single nucleotide variant not specified [RCV000428565] Chr6:169781377 [GRCh38]
Chr6:170181473 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.257C>A (p.Thr86Asn) single nucleotide variant not provided [RCV000884634]|not specified [RCV000432020] Chr6:169755364 [GRCh38]
Chr6:170155460 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.171G>C (p.Glu57Asp) single nucleotide variant not specified [RCV000435507] Chr6:169754028 [GRCh38]
Chr6:170154124 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) single nucleotide variant not provided [RCV000425299]|not specified [RCV000486312] Chr6:169769642 [GRCh38]
Chr6:170169738 [GRCh37]
Chr6:6q27
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018341.3(ERMARD):c.-13G>C single nucleotide variant not specified [RCV000421966] Chr6:169751645 [GRCh38]
Chr6:170151741 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.858-10A>C single nucleotide variant not specified [RCV000419618] Chr6:169762419 [GRCh38]
Chr6:170162515 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1060-12A>G single nucleotide variant not specified [RCV000425586] Chr6:169769528 [GRCh38]
Chr6:170169624 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.385C>T (p.Leu129=) single nucleotide variant not provided [RCV000885739]|not specified [RCV000429212] Chr6:169756407 [GRCh38]
Chr6:170156503 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1695G>A (p.Thr565=) single nucleotide variant not provided [RCV000970846]|not specified [RCV000443541] Chr6:169776629 [GRCh38]
Chr6:170176725 [GRCh37]
Chr6:6q27
benign|likely benign
NM_018341.3(ERMARD):c.960G>A (p.Glu320=) single nucleotide variant not provided [RCV000962191]|not specified [RCV000429508] Chr6:169762531 [GRCh38]
Chr6:170162627 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1944A>G (p.Thr648=) single nucleotide variant not specified [RCV000436459] Chr6:169781420 [GRCh38]
Chr6:170181516 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.870C>T (p.Cys290=) single nucleotide variant not specified [RCV000426163] Chr6:169762441 [GRCh38]
Chr6:170162537 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.192C>T (p.Tyr64=) single nucleotide variant not specified [RCV000426215] Chr6:169755299 [GRCh38]
Chr6:170155395 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.265C>A (p.Gln89Lys) single nucleotide variant not provided [RCV000970845]|not specified [RCV000433117] Chr6:169755372 [GRCh38]
Chr6:170155468 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.858-11C>T single nucleotide variant not specified [RCV000443962] Chr6:169762418 [GRCh38]
Chr6:170162514 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.274A>G (p.Ile92Val) single nucleotide variant not specified [RCV000433691] Chr6:169755381 [GRCh38]
Chr6:170155477 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1505G>A (p.Arg502His) single nucleotide variant not specified [RCV000437289] Chr6:169776050 [GRCh38]
Chr6:170176146 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NM_018341.3(ERMARD):c.1233+10A>G single nucleotide variant not specified [RCV000430742] Chr6:169769723 [GRCh38]
Chr6:170169819 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1617C>T (p.Ile539=) single nucleotide variant not specified [RCV000437515] Chr6:169776551 [GRCh38]
Chr6:170176647 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1014T>C (p.Asp338=) single nucleotide variant not provided [RCV000968105]|not specified [RCV000444730] Chr6:169768126 [GRCh38]
Chr6:170168222 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q27(chr6:168923404-170919482)x1 copy number loss See cases [RCV000448842] Chr6:168923404..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:168827897-170919482)x1 copy number loss See cases [RCV000447973] Chr6:168827897..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_018341.3(ERMARD):c.241C>T (p.His81Tyr) single nucleotide variant not specified [RCV000501616] Chr6:169755348 [GRCh38]
Chr6:170155444 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.1394+4C>T single nucleotide variant not specified [RCV000503041] Chr6:169775350 [GRCh38]
Chr6:170175446 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NM_018341.3(ERMARD):c.529G>A (p.Val177Ile) single nucleotide variant not provided [RCV000492910] Chr6:169758989 [GRCh38]
Chr6:170159085 [GRCh37]
Chr6:6q27
uncertain significance
NM_018341.3(ERMARD):c.900T>C (p.Thr300=) single nucleotide variant not provided [RCV000917362]|not specified [RCV000603994] Chr6:169762471 [GRCh38]
Chr6:170162567 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1395-11_1395-10del deletion not specified [RCV000601940] Chr6:169775928..169775929 [GRCh38]
Chr6:170176024..170176025 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.5A>T (p.Glu2Val) single nucleotide variant not provided [RCV000912441]|not specified [RCV000605306] Chr6:169751662 [GRCh38]
Chr6:170151758 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.508-17A>C single nucleotide variant not specified [RCV000616171] Chr6:169758951 [GRCh38]
Chr6:170159047 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1740-9del deletion not specified [RCV000607968] Chr6:169779173 [GRCh38]
Chr6:170179269 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1976G>T (p.Ser659Ile) single nucleotide variant not specified [RCV000608423] Chr6:169781452 [GRCh38]
Chr6:170181548 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.6+19C>T single nucleotide variant not specified [RCV000611986] Chr6:169751682 [GRCh38]
Chr6:170151778 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1419T>C (p.Asn473=) single nucleotide variant not specified [RCV000606063] Chr6:169775964 [GRCh38]
Chr6:170176060 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.364A>G (p.Ile122Val) single nucleotide variant not specified [RCV000601055] Chr6:169756386 [GRCh38]
Chr6:170156482 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27
pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q27(chr6:170077456-170331725)x3 copy number gain not provided [RCV000682751] Chr6:170077456..170331725 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:167388817-170919482)x1 copy number loss not provided [RCV000682747] Chr6:167388817..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169811293-170384298)x3 copy number gain not provided [RCV000682750] Chr6:169811293..170384298 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169854753-170919470)x1 copy number loss not provided [RCV000746261] Chr6:169854753..170919470 [GRCh37]
Chr6:6q27
likely pathogenic
GRCh37/hg19 6q27(chr6:170068151-170151758)x3 copy number gain not provided [RCV000746267] Chr6:170068151..170151758 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:170103996-170157288)x3 copy number gain not provided [RCV000746268] Chr6:170103996..170157288 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.720C>T (p.Leu240=) single nucleotide variant not provided [RCV000929496] Chr6:169759952 [GRCh38]
Chr6:170160048 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.661T>A (p.Tyr221Asn) single nucleotide variant not provided [RCV000900431] Chr6:169759893 [GRCh38]
Chr6:170159989 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1795T>C (p.Leu599=) single nucleotide variant not provided [RCV000882509] Chr6:169779237 [GRCh38]
Chr6:170179333 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q27(chr6:168311806-170881789) copy number loss not provided [RCV000767674] Chr6:168311806..170881789 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.1607T>C (p.Leu536Pro) single nucleotide variant not specified [RCV000780225] Chr6:169776541 [GRCh38]
Chr6:170176637 [GRCh37]
Chr6:6q27
uncertain significance
NM_018341.3(ERMARD):c.1480C>G (p.Arg494Gly) single nucleotide variant not provided [RCV000969786] Chr6:169776025 [GRCh38]
Chr6:170176121 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.278G>A (p.Arg93Gln) single nucleotide variant not provided [RCV000923869] Chr6:169755385 [GRCh38]
Chr6:170155481 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1758T>C (p.Pro586=) single nucleotide variant not provided [RCV000896001] Chr6:169779200 [GRCh38]
Chr6:170179296 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.846C>T (p.Phe282=) single nucleotide variant not provided [RCV000970155] Chr6:169760745 [GRCh38]
Chr6:170160841 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1368C>T (p.Pro456=) single nucleotide variant not provided [RCV000904502] Chr6:169775320 [GRCh38]
Chr6:170175416 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1881G>A (p.Thr627=) single nucleotide variant not provided [RCV000916300] Chr6:169781357 [GRCh38]
Chr6:170181453 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.351A>G (p.Leu117=) single nucleotide variant not provided [RCV000924334] Chr6:169756373 [GRCh38]
Chr6:170156469 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1614C>T (p.Ser538=) single nucleotide variant not provided [RCV000928912] Chr6:169776548 [GRCh38]
Chr6:170176644 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q27(chr6:167440417-170919482)x1 copy number loss not provided [RCV001005882] Chr6:167440417..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:170136337-170919482)x1 copy number loss not provided [RCV001005885] Chr6:170136337..170919482 [GRCh37]
Chr6:6q27
pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27
likely pathogenic
NM_018341.3(ERMARD):c.1395-209C>T single nucleotide variant not provided [RCV000841617] Chr6:169775731 [GRCh38]
Chr6:170175827 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1739+97C>T single nucleotide variant not provided [RCV000841648] Chr6:169776770 [GRCh38]
Chr6:170176866 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1589T>C (p.Leu530Pro) single nucleotide variant not provided [RCV000837948] Chr6:169776523 [GRCh38]
Chr6:170176619 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.507+75A>G single nucleotide variant not provided [RCV000839828] Chr6:169756883 [GRCh38]
Chr6:170156979 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1234-260A>G single nucleotide variant not provided [RCV000826908] Chr6:169773059 [GRCh38]
Chr6:170173155 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.1853+307T>C single nucleotide variant not provided [RCV000826909] Chr6:169779602 [GRCh38]
Chr6:170179698 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.961-62T>C single nucleotide variant not provided [RCV000839832] Chr6:169766576 [GRCh38]
Chr6:170166672 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 copy number loss not provided [RCV000846415] Chr6:166607593..170919482 [GRCh37]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.508-8C>T single nucleotide variant not provided [RCV000937342] Chr6:169758960 [GRCh38]
Chr6:170159056 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.378A>G (p.Leu126=) single nucleotide variant not provided [RCV000975252] Chr6:169756400 [GRCh38]
Chr6:170156496 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NM_018341.3(ERMARD):c.788A>G (p.Lys263Arg) single nucleotide variant not provided [RCV000930327] Chr6:169760687 [GRCh38]
Chr6:170160783 [GRCh37]
Chr6:6q27
benign
NM_018341.3(ERMARD):c.582G>A (p.Ala194=) single nucleotide variant not provided [RCV000907284] Chr6:169759042 [GRCh38]
Chr6:170159138 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.753T>C (p.Tyr251=) single nucleotide variant not provided [RCV000929995] Chr6:169760652 [GRCh38]
Chr6:170160748 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.393G>A (p.Ser131=) single nucleotide variant not provided [RCV000944107] Chr6:169756415 [GRCh38]
Chr6:170156511 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1620C>T (p.Ser540=) single nucleotide variant not provided [RCV000935964] Chr6:169776554 [GRCh38]
Chr6:170176650 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27
likely pathogenic
NM_018341.3(ERMARD):c.1286G>T (p.Arg429Leu) single nucleotide variant Seizures [RCV001255044] Chr6:169773371 [GRCh38]
Chr6:170173467 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:167580012-170919482)x1 copy number loss not provided [RCV001258925] Chr6:167580012..170919482 [GRCh37]
Chr6:6q27
pathogenic
NM_018341.3(ERMARD):c.313G>C (p.Glu105Gln) single nucleotide variant Periventricular nodular heterotopia 6 [RCV001255820] Chr6:169755420 [GRCh38]
Chr6:170155516 [GRCh37]
Chr6:6q27
likely benign
NM_018341.3(ERMARD):c.1394+1G>T single nucleotide variant Periventricular nodular heterotopia 6 [RCV001332254] Chr6:169775347 [GRCh38]
Chr6:170175443 [GRCh37]
Chr6:6q27
uncertain significance
NM_018341.3(ERMARD):c.960+2T>G single nucleotide variant none provided [RCV001286797] Chr6:169762533 [GRCh38]
Chr6:170162629 [GRCh37]
Chr6:6q27
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21056 AgrOrtholog
COSMIC ERMARD COSMIC
Ensembl Genes ENSG00000130023 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276187 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355734 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355735 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000375945 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397661 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466335 UniProtKB/TrEMBL
  ENSP00000466474 UniProtKB/TrEMBL
  ENSP00000466679 UniProtKB/TrEMBL
  ENSP00000467582 UniProtKB/TrEMBL
  ENSP00000468124 UniProtKB/TrEMBL
  ENSP00000468240 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000468722 UniProtKB/TrEMBL
  ENSP00000480327 UniProtKB/Swiss-Prot
  ENSP00000483666 UniProtKB/Swiss-Prot
  ENSP00000483849 UniProtKB/Swiss-Prot
  ENSP00000483960 UniProtKB/Swiss-Prot
  ENSP00000485754 UniProtKB/TrEMBL
  ENSP00000486172 UniProtKB/TrEMBL
  ENSP00000486399 UniProtKB/TrEMBL
  ENSP00000486419 UniProtKB/TrEMBL
  ENSP00000486852 UniProtKB/TrEMBL
  ENSP00000486998 UniProtKB/TrEMBL
  ENSP00000487161 UniProtKB/TrEMBL
Ensembl Transcript ENST00000366772 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000366773 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418781 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586341 UniProtKB/TrEMBL
  ENST00000588451 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000590017 UniProtKB/TrEMBL
  ENST00000590711 UniProtKB/TrEMBL
  ENST00000592315 UniProtKB/TrEMBL
  ENST00000592367 UniProtKB/TrEMBL
  ENST00000592745 UniProtKB/TrEMBL
  ENST00000611694 UniProtKB/Swiss-Prot
  ENST00000615090 UniProtKB/Swiss-Prot
  ENST00000616801 UniProtKB/Swiss-Prot
  ENST00000621205 UniProtKB/Swiss-Prot
  ENST00000627446 UniProtKB/TrEMBL
  ENST00000628241 UniProtKB/TrEMBL
  ENST00000628674 UniProtKB/TrEMBL
  ENST00000629254 UniProtKB/TrEMBL
  ENST00000629523 UniProtKB/TrEMBL
  ENST00000630950 UniProtKB/TrEMBL
  ENST00000631324 UniProtKB/TrEMBL
GTEx ENSG00000130023 GTEx
  ENSG00000276187 GTEx
HGNC ID HGNC:21056 ENTREZGENE
Human Proteome Map ERMARD Human Proteome Map
InterPro DUF4209 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERMARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55780 UniProtKB/Swiss-Prot
NCBI Gene 55780 ENTREZGENE
OMIM 615532 OMIM
  615544 OMIM
PANTHER PTHR31701 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4209 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134884522 PharmGKB
UniProt EMARD_HUMAN UniProtKB/Swiss-Prot
  K7EM31_HUMAN UniProtKB/TrEMBL
  K7EME8_HUMAN UniProtKB/TrEMBL
  K7EMW5_HUMAN UniProtKB/TrEMBL
  K7EPX8_HUMAN UniProtKB/TrEMBL
  K7ER62_HUMAN UniProtKB/TrEMBL
  K7ERF7_HUMAN UniProtKB/TrEMBL
  K7ESI0_HUMAN UniProtKB/TrEMBL
  Q5T6L9 ENTREZGENE
UniProt Secondary B4DFH0 UniProtKB/Swiss-Prot
  F8WAF1 UniProtKB/Swiss-Prot
  Q3ZCS8 UniProtKB/Swiss-Prot
  Q5T6L8 UniProtKB/Swiss-Prot
  Q9NUT5 UniProtKB/Swiss-Prot
  Q9NVU2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 ERMARD  ER membrane associated RNA degradation    ER membrane-associated RNA degradation  Symbol and/or name change 5135510 APPROVED
2013-09-03 ERMARD  ER membrane-associated RNA degradation  C6orf70  chromosome 6 open reading frame 70  Symbol and/or name change 5135510 APPROVED