ATXN2L (ataxin 2 like) - Rat Genome Database

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Gene: ATXN2L (ataxin 2 like) Homo sapiens
Analyze
Symbol: ATXN2L
Name: ataxin 2 like
RGD ID: 1604832
HGNC Page HGNC
Description: Exhibits RNA binding activity and cadherin binding activity. Involved in regulation of cytoplasmic mRNA processing body assembly and stress granule assembly. Localizes to several cellular components, including cytoplasmic stress granule; cytosol; and nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A2D; A2LG; A2LP; A2RP; ataxin 2 related protein; ataxin 2-like; ataxin-2 domain protein; ataxin-2-like protein; ataxin-2-related protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC005014.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1628,822,999 - 28,837,237 (+)EnsemblGRCh38hg38GRCh38
GRCh381628,822,999 - 28,837,237 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371628,834,320 - 28,848,553 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361628,741,915 - 28,756,059 (+)NCBINCBI36hg18NCBI36
Celera1627,786,107 - 27,802,989 (+)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1626,701,931 - 26,716,120 (+)NCBIHuRef
CHM1_11629,846,212 - 29,860,401 (+)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8896555   PMID:9110174   PMID:11784712   PMID:12477932   PMID:14769358   PMID:15144186   PMID:15302935   PMID:15489334   PMID:15782174   PMID:16009940   PMID:16344560  
PMID:16713569   PMID:16964243   PMID:17081983   PMID:17110338   PMID:17392519   PMID:18729074   PMID:19156129   PMID:19615732   PMID:19738201   PMID:19915574   PMID:19946888   PMID:20020773  
PMID:20473688   PMID:20811636   PMID:20935630   PMID:21145461   PMID:21280222   PMID:21873635   PMID:21988832   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22681889   PMID:23209657  
PMID:23722424   PMID:24189400   PMID:24457600   PMID:24778252   PMID:24981860   PMID:25010285   PMID:25192599   PMID:25201988   PMID:25468996   PMID:25631074   PMID:25659154   PMID:25665578  
PMID:25748791   PMID:25921289   PMID:25959826   PMID:26186194   PMID:26344197   PMID:26471122   PMID:26496610   PMID:26725010   PMID:26777405   PMID:26831064   PMID:27025967   PMID:27545878  
PMID:27609421   PMID:27684187   PMID:28302793   PMID:28431233   PMID:28514442   PMID:28533407   PMID:28689657   PMID:28902428   PMID:29104064   PMID:29180619   PMID:29229926   PMID:29395067  
PMID:29509190   PMID:29845934   PMID:30209976   PMID:30258100   PMID:30455355   PMID:30629181   PMID:30652415   PMID:30778852   PMID:30787271   PMID:30995489   PMID:31048545   PMID:31091453  
PMID:31239290   PMID:31300519   PMID:31586073   PMID:31617661   PMID:31640799   PMID:31792442   PMID:32120844   PMID:32129710   PMID:32296183   PMID:32529326   PMID:32694731   PMID:32780723  
PMID:32788342  


Genomics

Comparative Map Data
ATXN2L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1628,822,999 - 28,837,237 (+)EnsemblGRCh38hg38GRCh38
GRCh381628,822,999 - 28,837,237 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371628,834,320 - 28,848,553 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361628,741,915 - 28,756,059 (+)NCBINCBI36hg18NCBI36
Celera1627,786,107 - 27,802,989 (+)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1626,701,931 - 26,716,120 (+)NCBIHuRef
CHM1_11629,846,212 - 29,860,401 (+)NCBICHM1_1
Atxn2l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,090,880 - 126,106,991 (-)NCBIGRCm39mm39
GRCm39 Ensembl7126,090,880 - 126,102,609 (-)Ensembl
GRCm387126,491,708 - 126,507,819 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,491,708 - 126,503,437 (-)EnsemblGRCm38mm10GRCm38
MGSCv377133,635,222 - 133,646,816 (-)NCBIGRCm37mm9NCBIm37
MGSCv367126,282,856 - 126,294,450 (-)NCBImm8
Celera7126,344,285 - 126,355,877 (-)NCBICelera
Cytogenetic Map7F3NCBI
Atxn2l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21181,078,293 - 181,090,079 (-)NCBI
Rnor_6.0 Ensembl1197,908,094 - 197,919,560 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01197,908,087 - 197,920,400 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01204,886,847 - 204,898,772 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,637,263 - 185,647,581 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1178,736,999 - 178,748,389 (-)NCBICelera
Cytogenetic Map1q36NCBI
Atxn2l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,626,106 - 6,637,681 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,626,106 - 6,637,678 (-)NCBIChiLan1.0ChiLan1.0
ATXN2L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11629,210,011 - 29,223,859 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1629,209,115 - 29,226,239 (+)Ensemblpanpan1.1panPan2
ATXN2L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,342,953 - 18,355,421 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl618,343,016 - 18,385,112 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,921,327 - 19,933,653 (+)NCBI
ROS_Cfam_1.0618,478,908 - 18,491,196 (+)NCBI
UMICH_Zoey_3.1618,278,302 - 18,290,582 (+)NCBI
UNSW_CanFamBas_1.0618,193,184 - 18,205,511 (+)NCBI
UU_Cfam_GSD_1.0618,509,337 - 18,521,626 (+)NCBI
Atxn2l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344123,767,936 - 123,777,133 (-)NCBI
SpeTri2.0NW_00493650111,865,796 - 11,875,215 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATXN2L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl318,506,052 - 18,519,060 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1318,506,082 - 18,519,060 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2318,691,387 - 18,704,357 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATXN2L
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,230,503 - 26,246,365 (-)NCBI
ChlSab1.1 Ensembl526,230,488 - 26,245,334 (-)Ensembl
Vero_WHO_p1.0NW_0236660683,327,565 - 3,343,106 (+)NCBI
Atxn2l
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478212,920,255 - 12,934,084 (-)NCBI

Position Markers
RH75914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,622,928 - 16,623,012UniSTSGRCh37
GRCh371628,848,408 - 28,848,492UniSTSGRCh37
Build 36716,589,453 - 16,589,537RGDNCBI36
Celera1627,802,839 - 27,802,923UniSTS
Celera716,602,681 - 16,602,765RGD
Cytogenetic Map16p11UniSTS
Cytogenetic Map7p21UniSTS
HuRef1626,715,970 - 26,716,054UniSTS
HuRef716,509,613 - 16,509,697UniSTS
CRA_TCAGchr7v2716,676,067 - 16,676,151UniSTS
SHGC-79036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,840,987 - 28,841,260UniSTSGRCh37
Build 361628,748,488 - 28,748,761RGDNCBI36
Celera1627,795,418 - 27,795,691RGD
Cytogenetic Map16p11UniSTS
HuRef1626,708,549 - 26,708,822UniSTS
TNG Radiation Hybrid Map1616246.0UniSTS
SHGC-149359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,836,578 - 28,836,895UniSTSGRCh37
Build 361628,744,079 - 28,744,396RGDNCBI36
Celera1627,791,009 - 27,791,326RGD
Cytogenetic Map16p11UniSTS
HuRef1626,704,140 - 26,704,457UniSTS
TNG Radiation Hybrid Map1616240.0UniSTS
ATXN2L_9253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,847,783 - 28,848,566UniSTSGRCh37
Build 361628,755,284 - 28,756,067RGDNCBI36
Celera1627,802,214 - 27,802,997RGD
HuRef1626,715,345 - 26,716,128UniSTS
D16S3297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,832,309 - 28,832,493UniSTSGRCh37
Build 361628,739,810 - 28,739,994RGDNCBI36
Celera1627,786,759 - 27,786,943RGD
Cytogenetic Map16p11UniSTS
HuRef1626,699,565 - 26,699,749UniSTS
STS-N24050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,837,091 - 28,837,612UniSTSGRCh37
GRCh37716,625,927 - 16,626,050UniSTSGRCh37
Build 36716,592,452 - 16,592,575RGDNCBI36
Celera716,605,680 - 16,605,803RGD
Celera1627,791,522 - 27,792,043UniSTS
Cytogenetic Map7p21UniSTS
Cytogenetic Map16p11UniSTS
HuRef716,512,612 - 16,512,735UniSTS
HuRef1626,704,653 - 26,705,174UniSTS
CRA_TCAGchr7v2716,679,066 - 16,679,189UniSTS
GeneMap99-GB4 RH Map780.39UniSTS
NCBI RH Map7220.6UniSTS
RH66987  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p11UniSTS
RH80138  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p11UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10924
Count of miRNA genes:1207
Interacting mature miRNAs:1544
Transcripts:ENST00000325215, ENST00000336783, ENST00000340394, ENST00000382686, ENST00000395547, ENST00000561539, ENST00000561732, ENST00000562583, ENST00000562686, ENST00000562867, ENST00000563314, ENST00000564035, ENST00000564162, ENST00000564284, ENST00000564304, ENST00000564656, ENST00000565845, ENST00000565971, ENST00000566007, ENST00000566080, ENST00000566946, ENST00000567024, ENST00000568266, ENST00000569318, ENST00000570200, ENST00000570284
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 2431 2912 1706 609 1902 450 4353 2160 3560 390 1448 1605 171 1204 2786 3 1
Low 8 79 20 15 49 15 4 37 174 29 12 8 4 1 2 3 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ317970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ317971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ317972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ317973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ317974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY188334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY188335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY188336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY188337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY188338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA320741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000325215   ⟹   ENSP00000315650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,093 - 28,837,232 (+)Ensembl
RefSeq Acc Id: ENST00000336783   ⟹   ENSP00000338718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,093 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000340394   ⟹   ENSP00000341459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,048 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000382686   ⟹   ENSP00000372133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,093 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000395547   ⟹   ENSP00000378917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,093 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000561539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,825,366 - 28,826,184 (+)Ensembl
RefSeq Acc Id: ENST00000561732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,834,329 - 28,835,425 (+)Ensembl
RefSeq Acc Id: ENST00000562583   ⟹   ENSP00000456162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,834,065 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000562686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,834,852 - 28,835,430 (+)Ensembl
RefSeq Acc Id: ENST00000562867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,482 - 28,826,605 (+)Ensembl
RefSeq Acc Id: ENST00000563314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,035 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000564035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,833,856 - 28,835,316 (+)Ensembl
RefSeq Acc Id: ENST00000564162   ⟹   ENSP00000455427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,835,669 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000564284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,829,778 - 28,830,936 (+)Ensembl
RefSeq Acc Id: ENST00000564304   ⟹   ENSP00000457613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,095 - 28,836,919 (+)Ensembl
RefSeq Acc Id: ENST00000564656   ⟹   ENSP00000456812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,824,451 - 28,826,885 (+)Ensembl
RefSeq Acc Id: ENST00000565845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,833,196 - 28,835,187 (+)Ensembl
RefSeq Acc Id: ENST00000565971   ⟹   ENSP00000457599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,825,770 - 28,837,237 (+)Ensembl
RefSeq Acc Id: ENST00000566007   ⟹   ENSP00000455981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,835,595 - 28,836,929 (+)Ensembl
RefSeq Acc Id: ENST00000566080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,825,371 - 28,825,920 (+)Ensembl
RefSeq Acc Id: ENST00000566946   ⟹   ENSP00000454757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,834,065 - 28,837,221 (+)Ensembl
RefSeq Acc Id: ENST00000567024   ⟹   ENSP00000455560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,836,446 - 28,837,232 (+)Ensembl
RefSeq Acc Id: ENST00000568266   ⟹   ENSP00000456752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,824,138 - 28,830,768 (+)Ensembl
RefSeq Acc Id: ENST00000569318   ⟹   ENSP00000454588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,835,099 - 28,836,076 (+)Ensembl
RefSeq Acc Id: ENST00000570200   ⟹   ENSP00000454516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,823,252 - 28,837,215 (+)Ensembl
RefSeq Acc Id: ENST00000570284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1628,829,401 - 28,832,348 (+)Ensembl
RefSeq Acc Id: NM_001308230   ⟹   NP_001295159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
CHM1_11629,846,212 - 29,860,401 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387166   ⟹   NP_001374095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387167   ⟹   NP_001374096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387168   ⟹   NP_001374097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387169   ⟹   NP_001374098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387170   ⟹   NP_001374099
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387171   ⟹   NP_001374100
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387172   ⟹   NP_001374101
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387173   ⟹   NP_001374102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387174   ⟹   NP_001374103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387175   ⟹   NP_001374104
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387176   ⟹   NP_001374105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387177   ⟹   NP_001374106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387178   ⟹   NP_001374107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387179   ⟹   NP_001374108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387180   ⟹   NP_001374109
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387181   ⟹   NP_001374110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387182   ⟹   NP_001374111
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387183   ⟹   NP_001374112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387184   ⟹   NP_001374113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387185   ⟹   NP_001374114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387186   ⟹   NP_001374115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387187   ⟹   NP_001374116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387188   ⟹   NP_001374117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387189   ⟹   NP_001374118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387190   ⟹   NP_001374119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387191   ⟹   NP_001374120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387192   ⟹   NP_001374121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387193   ⟹   NP_001374122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387194   ⟹   NP_001374123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387195   ⟹   NP_001374124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387196   ⟹   NP_001374125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387197   ⟹   NP_001374126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387198   ⟹   NP_001374127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387199   ⟹   NP_001374128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387200   ⟹   NP_001374129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387202   ⟹   NP_001374131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387203   ⟹   NP_001374132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_001387204   ⟹   NP_001374133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
RefSeq Acc Id: NM_007245   ⟹   NP_009176
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Build 361628,741,915 - 28,756,059 (+)NCBI Archive
Celera1627,786,107 - 27,802,989 (+)RGD
HuRef1626,701,931 - 26,716,120 (+)NCBI
CHM1_11629,846,212 - 29,860,401 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017492   ⟹   NP_059867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
HuRef1626,701,931 - 26,716,120 (+)NCBI
CHM1_11629,846,212 - 29,860,401 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145714   ⟹   NP_663760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Build 361628,741,915 - 28,756,054 (+)NCBI Archive
Celera1627,786,107 - 27,802,989 (+)RGD
HuRef1626,701,931 - 26,716,120 (+)NCBI
CHM1_11629,846,212 - 29,860,401 (+)NCBI
Sequence:
RefSeq Acc Id: NM_148414   ⟹   NP_680780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Build 361628,741,915 - 28,756,059 (+)NCBI Archive
Celera1627,786,107 - 27,802,989 (+)RGD
HuRef1626,701,931 - 26,716,120 (+)NCBI
CHM1_11629,846,212 - 29,860,401 (+)NCBI
Sequence:
RefSeq Acc Id: NM_148415   ⟹   NP_680781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Build 361628,741,915 - 28,756,059 (+)NCBI Archive
Celera1627,786,107 - 27,802,989 (+)RGD
HuRef1626,701,931 - 26,716,120 (+)NCBI
CHM1_11629,846,212 - 29,860,401 (+)NCBI
Sequence:
RefSeq Acc Id: NM_148416   ⟹   NP_680782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,837,232 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Build 361628,741,915 - 28,756,059 (+)NCBI Archive
Celera1627,786,107 - 27,802,989 (+)RGD
HuRef1626,701,931 - 26,716,120 (+)NCBI
CHM1_11629,846,212 - 29,860,401 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255061   ⟹   XP_005255118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255062   ⟹   XP_005255119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255063   ⟹   XP_005255120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,836,810 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255064   ⟹   XP_005255121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255065   ⟹   XP_005255122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255066   ⟹   XP_005255123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255067   ⟹   XP_005255124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255068   ⟹   XP_005255125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255070   ⟹   XP_005255127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255074   ⟹   XP_005255131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255075   ⟹   XP_005255132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255077   ⟹   XP_005255134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,824,149 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721007   ⟹   XP_006721070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721008   ⟹   XP_006721071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721009   ⟹   XP_006721072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721010   ⟹   XP_006721073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,836,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721011   ⟹   XP_006721074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721012   ⟹   XP_006721075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545719   ⟹   XP_011544021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545722   ⟹   XP_011544024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,824,451 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022891   ⟹   XP_016878380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,824,149 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022892   ⟹   XP_016878381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,824,451 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751820
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
Sequence:
RefSeq Acc Id: XR_243256
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,048 - 28,837,237 (+)NCBI
GRCh371628,834,369 - 28,848,558 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001295159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374097 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374098 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374099 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374100 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374101 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374102 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374103 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374104 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374105 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374106 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374107 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374108 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374109 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374110 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374111 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374112 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374113 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374114 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374116 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374117 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374118 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374119 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374120 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374121 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374123 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374124 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374125 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374126 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374127 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374128 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374129 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374132 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374133 (Get FASTA)   NCBI Sequence Viewer  
  NP_009176 (Get FASTA)   NCBI Sequence Viewer  
  NP_059867 (Get FASTA)   NCBI Sequence Viewer  
  NP_663760 (Get FASTA)   NCBI Sequence Viewer  
  NP_680780 (Get FASTA)   NCBI Sequence Viewer  
  NP_680781 (Get FASTA)   NCBI Sequence Viewer  
  NP_680782 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255118 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255119 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255120 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255121 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255122 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255123 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255124 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255125 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255127 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255131 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255132 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255134 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721070 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721071 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721072 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721073 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721074 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721075 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544021 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544024 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878380 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878381 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB19201 (Get FASTA)   NCBI Sequence Viewer  
  AAC69607 (Get FASTA)   NCBI Sequence Viewer  
  AAH10239 (Get FASTA)   NCBI Sequence Viewer  
  AAH68012 (Get FASTA)   NCBI Sequence Viewer  
  AAH82760 (Get FASTA)   NCBI Sequence Viewer  
  AAI36585 (Get FASTA)   NCBI Sequence Viewer  
  AAO12056 (Get FASTA)   NCBI Sequence Viewer  
  AAO12057 (Get FASTA)   NCBI Sequence Viewer  
  AAO12058 (Get FASTA)   NCBI Sequence Viewer  
  AAO12059 (Get FASTA)   NCBI Sequence Viewer  
  AAO12060 (Get FASTA)   NCBI Sequence Viewer  
  BAF82670 (Get FASTA)   NCBI Sequence Viewer  
  CAC38068 (Get FASTA)   NCBI Sequence Viewer  
  CAC38069 (Get FASTA)   NCBI Sequence Viewer  
  CAC38070 (Get FASTA)   NCBI Sequence Viewer  
  CAC38071 (Get FASTA)   NCBI Sequence Viewer  
  CAC38072 (Get FASTA)   NCBI Sequence Viewer  
  EAW51986 (Get FASTA)   NCBI Sequence Viewer  
  EAW51987 (Get FASTA)   NCBI Sequence Viewer  
  EAW51988 (Get FASTA)   NCBI Sequence Viewer  
  EAW51989 (Get FASTA)   NCBI Sequence Viewer  
  EAW51990 (Get FASTA)   NCBI Sequence Viewer  
  EAW51991 (Get FASTA)   NCBI Sequence Viewer  
  EAW51992 (Get FASTA)   NCBI Sequence Viewer  
  EAW51993 (Get FASTA)   NCBI Sequence Viewer  
  EAW51994 (Get FASTA)   NCBI Sequence Viewer  
  EAW51995 (Get FASTA)   NCBI Sequence Viewer  
  EAW51996 (Get FASTA)   NCBI Sequence Viewer  
  Q8WWM7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_009176   ⟸   NM_007245
- Peptide Label: isoform 1
- UniProtKB: Q8WWM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_680780   ⟸   NM_148414
- Peptide Label: isoform 3
- UniProtKB: Q8WWM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_680781   ⟸   NM_148415
- Peptide Label: isoform 4
- UniProtKB: Q8WWM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_680782   ⟸   NM_148416
- Peptide Label: isoform 5
- UniProtKB: Q8WWM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_663760   ⟸   NM_145714
- Peptide Label: isoform 2
- UniProtKB: Q8WWM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_059867   ⟸   NM_017492
- Peptide Label: isoform 6
- UniProtKB: Q8WWM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255118   ⟸   XM_005255061
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005255119   ⟸   XM_005255062
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005255127   ⟸   XM_005255070
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_005255124   ⟸   XM_005255067
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005255125   ⟸   XM_005255068
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005255131   ⟸   XM_005255074
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_005255132   ⟸   XM_005255075
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_005255121   ⟸   XM_005255064
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005255122   ⟸   XM_005255065
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005255123   ⟸   XM_005255066
- Peptide Label: isoform X4
- UniProtKB: Q8WWM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255120   ⟸   XM_005255063
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005255134   ⟸   XM_005255077
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_006721072   ⟸   XM_006721009
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_006721074   ⟸   XM_006721011
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_006721070   ⟸   XM_006721007
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006721071   ⟸   XM_006721008
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006721073   ⟸   XM_006721010
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_006721075   ⟸   XM_006721012
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011544021   ⟸   XM_011545719
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011544024   ⟸   XM_011545722
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: NP_001295159   ⟸   NM_001308230
- Peptide Label: isoform 7
- UniProtKB: H3BUF6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878380   ⟸   XM_017022891
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016878381   ⟸   XM_017022892
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: ENSP00000454516   ⟸   ENST00000570200
RefSeq Acc Id: ENSP00000338718   ⟸   ENST00000336783
RefSeq Acc Id: ENSP00000315650   ⟸   ENST00000325215
RefSeq Acc Id: ENSP00000456162   ⟸   ENST00000562583
RefSeq Acc Id: ENSP00000457613   ⟸   ENST00000564304
RefSeq Acc Id: ENSP00000455427   ⟸   ENST00000564162
RefSeq Acc Id: ENSP00000456812   ⟸   ENST00000564656
RefSeq Acc Id: ENSP00000341459   ⟸   ENST00000340394
RefSeq Acc Id: ENSP00000457599   ⟸   ENST00000565971
RefSeq Acc Id: ENSP00000454757   ⟸   ENST00000566946
RefSeq Acc Id: ENSP00000455981   ⟸   ENST00000566007
RefSeq Acc Id: ENSP00000378917   ⟸   ENST00000395547
RefSeq Acc Id: ENSP00000455560   ⟸   ENST00000567024
RefSeq Acc Id: ENSP00000372133   ⟸   ENST00000382686
RefSeq Acc Id: ENSP00000456752   ⟸   ENST00000568266
RefSeq Acc Id: ENSP00000454588   ⟸   ENST00000569318
RefSeq Acc Id: NP_001374100   ⟸   NM_001387171
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001374110   ⟸   NM_001387181
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001374101   ⟸   NM_001387172
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001374095   ⟸   NM_001387166
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001374111   ⟸   NM_001387182
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001374098   ⟸   NM_001387169
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001374099   ⟸   NM_001387170
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001374122   ⟸   NM_001387193
- Peptide Label: isoform 29
RefSeq Acc Id: NP_001374118   ⟸   NM_001387189
- Peptide Label: isoform 25
RefSeq Acc Id: NP_001374119   ⟸   NM_001387190
- Peptide Label: isoform 26
RefSeq Acc Id: NP_001374126   ⟸   NM_001387197
- Peptide Label: isoform 32
RefSeq Acc Id: NP_001374129   ⟸   NM_001387200
- Peptide Label: isoform 34
RefSeq Acc Id: NP_001374107   ⟸   NM_001387178
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001374112   ⟸   NM_001387183
- Peptide Label: isoform 19
RefSeq Acc Id: NP_001374113   ⟸   NM_001387184
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001374102   ⟸   NM_001387173
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001374123   ⟸   NM_001387194
- Peptide Label: isoform 30
RefSeq Acc Id: NP_001374121   ⟸   NM_001387192
- Peptide Label: isoform 28
RefSeq Acc Id: NP_001374120   ⟸   NM_001387191
- Peptide Label: isoform 27
RefSeq Acc Id: NP_001374097   ⟸   NM_001387168
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001374096   ⟸   NM_001387167
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001374103   ⟸   NM_001387174
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001374105   ⟸   NM_001387176
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001374104   ⟸   NM_001387175
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001374106   ⟸   NM_001387177
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001374125   ⟸   NM_001387196
- Peptide Label: isoform 31
RefSeq Acc Id: NP_001374127   ⟸   NM_001387198
- Peptide Label: isoform 31
RefSeq Acc Id: NP_001374124   ⟸   NM_001387195
- Peptide Label: isoform 31
RefSeq Acc Id: NP_001374133   ⟸   NM_001387204
- Peptide Label: isoform 37
RefSeq Acc Id: NP_001374109   ⟸   NM_001387180
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001374115   ⟸   NM_001387186
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001374117   ⟸   NM_001387188
- Peptide Label: isoform 24
RefSeq Acc Id: NP_001374108   ⟸   NM_001387179
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001374114   ⟸   NM_001387185
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001374131   ⟸   NM_001387202
- Peptide Label: isoform 35
RefSeq Acc Id: NP_001374116   ⟸   NM_001387187
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001374128   ⟸   NM_001387199
- Peptide Label: isoform 33
RefSeq Acc Id: NP_001374132   ⟸   NM_001387203
- Peptide Label: isoform 36
Protein Domains
LsmAD   SM-ATX

Promoters
RGD ID:6792821
Promoter ID:HG_KWN:23412
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:ENST00000325200,   ENST00000359153,   NM_007245,   NM_148414,   NM_148416,   OTTHUMT00000214137,   UC002DRB.1,   UC002DRE.1,   UC010BYL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361628,741,274 - 28,741,774 (+)MPROMDB
RGD ID:6810893
Promoter ID:HG_ACW:30095
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:ATXN2L.GAPR07,   ATXN2L.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361628,742,646 - 28,743,317 (+)MPROMDB
RGD ID:6792820
Promoter ID:HG_KWN:23414
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002DRG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361628,752,386 - 28,753,172 (+)MPROMDB
RGD ID:6815129
Promoter ID:HG_MRA:5950
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:AL137587
Position:
Human AssemblyChrPosition (strand)Source
Build 361628,754,471 - 28,755,347 (+)MPROMDB
RGD ID:7231751
Promoter ID:EPDNEW_H21622
Type:initiation region
Name:ATXN2L_1
Description:ataxin 2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21623  EPDNEW_H21624  EPDNEW_H21625  EPDNEW_H21626  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,822,999 - 28,823,059EPDNEW
RGD ID:7231753
Promoter ID:EPDNEW_H21623
Type:initiation region
Name:ATXN2L_3
Description:ataxin 2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21622  EPDNEW_H21624  EPDNEW_H21625  EPDNEW_H21626  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,114 - 28,823,174EPDNEW
RGD ID:7231755
Promoter ID:EPDNEW_H21624
Type:initiation region
Name:ATXN2L_4
Description:ataxin 2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21622  EPDNEW_H21623  EPDNEW_H21625  EPDNEW_H21626  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,823,229 - 28,823,289EPDNEW
RGD ID:7231759
Promoter ID:EPDNEW_H21625
Type:initiation region
Name:ATXN2L_5
Description:ataxin 2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21622  EPDNEW_H21623  EPDNEW_H21624  EPDNEW_H21626  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,825,843 - 28,825,903EPDNEW
RGD ID:7231763
Promoter ID:EPDNEW_H21626
Type:initiation region
Name:ATXN2L_2
Description:ataxin 2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21622  EPDNEW_H21623  EPDNEW_H21624  EPDNEW_H21625  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,834,098 - 28,834,158EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3 copy number gain See cases [RCV000053118] Chr16:28293803..29531653 [GRCh38]
Chr16:28305124..29542974 [GRCh37]
Chr16:28212625..29450475 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 copy number gain See cases [RCV000053119] Chr16:28589904..29030797 [GRCh38]
Chr16:28601225..29042118 [GRCh37]
Chr16:28508726..28949619 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3 copy number gain See cases [RCV000053120] Chr16:28592408..29025786 [GRCh38]
Chr16:28603729..29037107 [GRCh37]
Chr16:28511230..28944608 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3 copy number gain See cases [RCV000053121] Chr16:28599237..29025786 [GRCh38]
Chr16:28610558..29037107 [GRCh37]
Chr16:28518059..28944608 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3 copy number gain See cases [RCV000053123] Chr16:28813473..28981076 [GRCh38]
Chr16:28824794..28992397 [GRCh37]
Chr16:28732295..28899898 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1 copy number loss See cases [RCV000053490] Chr16:28531783..29025786 [GRCh38]
Chr16:28543104..29037107 [GRCh37]
Chr16:28450605..28944608 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3 copy number gain See cases [RCV000053491] Chr16:28710478..29025786 [GRCh38]
Chr16:28721799..29037107 [GRCh37]
Chr16:28629300..28944608 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1 copy number loss See cases [RCV000053492] Chr16:28710478..29025786 [GRCh38]
Chr16:28721799..29037107 [GRCh37]
Chr16:28629300..28944608 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1 copy number loss See cases [RCV000053494] Chr16:28826129..29030797 [GRCh38]
Chr16:28837450..29042118 [GRCh37]
Chr16:28744951..28949619 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh37/hg19 16p11.2(chr16:28833437-29046252)x3 copy number gain See cases [RCV000184079] Chr16:28833437..29046252 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3 copy number gain See cases [RCV000135281] Chr16:28813473..29032580 [GRCh38]
Chr16:28824794..29043901 [GRCh37]
Chr16:28732295..28951402 [NCBI36]
Chr16:16p11.2
conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3 copy number gain See cases [RCV000134985] Chr16:28584316..29019738 [GRCh38]
Chr16:28595637..29031059 [GRCh37]
Chr16:28503138..28938560 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3 copy number gain See cases [RCV000135755] Chr16:28492482..29320029 [GRCh38]
Chr16:28503803..29331350 [GRCh37]
Chr16:28411304..29238851 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1 copy number loss See cases [RCV000135759] Chr16:28492482..29170875 [GRCh38]
Chr16:28503803..29182196 [GRCh37]
Chr16:28411304..29089697 [NCBI36]
Chr16:16p12.1-11.2
likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1 copy number loss See cases [RCV000137557] Chr16:28813473..29122414 [GRCh38]
Chr16:28824794..29133735 [GRCh37]
Chr16:28732295..29041236 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3 copy number gain See cases [RCV000137571] Chr16:28487211..29202837 [GRCh38]
Chr16:28498532..29214158 [GRCh37]
Chr16:28406033..29121659 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1 copy number loss See cases [RCV000137599] Chr16:28722418..29033455 [GRCh38]
Chr16:28733739..29044776 [GRCh37]
Chr16:28641240..28952277 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1 copy number loss See cases [RCV000137949] Chr16:28392832..29342070 [GRCh38]
Chr16:28404153..29353391 [GRCh37]
Chr16:28311654..29260892 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1 copy number loss See cases [RCV000137848] Chr16:28327346..29342070 [GRCh38]
Chr16:28338667..29353391 [GRCh37]
Chr16:28246168..29260892 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3 copy number gain See cases [RCV000138813] Chr16:28832433..29019750 [GRCh38]
Chr16:28843754..29031071 [GRCh37]
Chr16:28751255..28938572 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1 copy number loss See cases [RCV000138814] Chr16:28832433..29019750 [GRCh38]
Chr16:28843754..29031071 [GRCh37]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1 copy number loss See cases [RCV000138290] Chr16:28813473..29032639 [GRCh38]
Chr16:28824794..29043960 [GRCh37]
Chr16:28732295..28951461 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1 copy number loss See cases [RCV000138433] Chr16:28813473..29033455 [GRCh38]
Chr16:28824794..29044776 [GRCh37]
Chr16:28732295..28952277 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3 copy number gain See cases [RCV000139217] Chr16:28392026..29170879 [GRCh38]
Chr16:28403347..29182200 [GRCh37]
Chr16:28310848..29089701 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1 copy number loss See cases [RCV000140241] Chr16:28809422..29033455 [GRCh38]
Chr16:28820743..29044776 [GRCh37]
Chr16:28728244..28952277 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1 copy number loss See cases [RCV000139466] Chr16:28392832..29320029 [GRCh38]
Chr16:28404153..29331350 [GRCh37]
Chr16:28311654..29238851 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1 copy number loss See cases [RCV000140694] Chr16:28392832..29170875 [GRCh38]
Chr16:28404153..29182196 [GRCh37]
Chr16:28311654..29089697 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3 copy number gain See cases [RCV000141716] Chr16:28320366..29415078 [GRCh38]
Chr16:28331687..29426399 [GRCh37]
Chr16:28239188..29333900 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1 copy number loss See cases [RCV000141684] Chr16:28696852..29039870 [GRCh38]
Chr16:28708173..29051191 [GRCh37]
Chr16:28615674..28958692 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3 copy number gain See cases [RCV000142569] Chr16:28492482..29170875 [GRCh38]
Chr16:28503803..29182196 [GRCh37]
Chr16:28411304..29089697 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1 copy number loss See cases [RCV000143300] Chr16:28677764..29039870 [GRCh38]
Chr16:28689085..29051191 [GRCh37]
Chr16:28596586..28958692 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1 copy number loss See cases [RCV000143530] Chr16:28807707..29039870 [GRCh38]
Chr16:28819028..29051191 [GRCh37]
Chr16:28726529..28958692 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 copy number gain See cases [RCV000148153] Chr16:28589904..29030797 [GRCh38]
Chr16:28601225..29042118 [GRCh37]
Chr16:28508726..28949619 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1 copy number loss See cases [RCV000258804] Chr16:28484556..29043450 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28631584-29095327)x3 copy number gain See cases [RCV000449070] Chr16:28631584..29095327 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000449055] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2
pathogenic|likely pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Ductal breast carcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043960)x1 copy number loss See cases [RCV000240378] Chr16:28826162..29043960 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1 copy number loss See cases [RCV000240493] Chr16:28486693..29043960 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28824794-29042118)x3 copy number gain not provided [RCV000585256] Chr16:28824794..29042118 [GRCh37]
Chr16:16p11.2
likely benign
GRCh37/hg19 16p11.2(chr16:28483631-29332591)x3 copy number gain not provided [RCV001270661] Chr16:28483631..29332591 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x1 copy number loss See cases [RCV000598778] Chr16:28825605..29043450 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3 copy number gain See cases [RCV000449402] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28689085-29043450)x3 copy number gain See cases [RCV000449370] Chr16:28689085..29043450 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29084772)x3 copy number gain See cases [RCV000446086] Chr16:28802397..29084772 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29051191)x3 copy number gain See cases [RCV000446355] Chr16:28802397..29051191 [GRCh37]
Chr16:16p11.2
conflicting data from submitters
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x1 copy number loss See cases [RCV000446593] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28808193-29088624)x3 copy number gain See cases [RCV000446202] Chr16:28808193..29088624 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 copy number loss See cases [RCV000447001] Chr16:28486693..30197290 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-29048572)x1 copy number loss See cases [RCV000447021] Chr16:28486693..29048572 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29043863)x3 copy number gain See cases [RCV000446179] Chr16:28819028..29043863 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28808193-29043863)x3 copy number gain See cases [RCV000445909] Chr16:28808193..29043863 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29043450)x3 copy number gain See cases [RCV000448522] Chr16:28802397..29043450 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28824857-29088624)x3 copy number gain See cases [RCV000448964] Chr16:28824857..29088624 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_28370872)_(29324276_?)del deletion Schizophrenia [RCV000416901] Chr16:28370872..29324276 [GRCh38]
Chr16:28382193..29335597 [GRCh37]
Chr16:28289694..29243098 [NCBI36]
Chr16:16p12.1-11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:28763834-29043863)x1 copy number loss See cases [RCV000510206] Chr16:28763834..29043863 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28384463-29343462)x1 copy number loss See cases [RCV000510329] Chr16:28384463..29343462 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p11.2(chr16:28819028-29043972)x1 copy number loss See cases [RCV000511913] Chr16:28819028..29043972 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1 copy number loss See cases [RCV000511533] Chr16:28441538..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28371467-29426399)x4 copy number gain See cases [RCV000511109] Chr16:28371467..29426399 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28466730-29427247)x1 copy number loss See cases [RCV000510933] Chr16:28466730..29427247 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1 copy number loss not provided [RCV000683798] Chr16:28389576..29438326 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28689085-29051191)x1 copy number loss not provided [RCV000683799] Chr16:28689085..29051191 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28747520-29051191)x1 copy number loss not provided [RCV000683800] Chr16:28747520..29051191 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28763834-29051191)x1 copy number loss not provided [RCV000683801] Chr16:28763834..29051191 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29051191)x1 copy number loss not provided [RCV000683802] Chr16:28802397..29051191 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x1 copy number loss not provided [RCV000683803] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3 copy number gain not provided [RCV000683804] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28824490-29043450)x3 copy number gain not provided [RCV000683805] Chr16:28824490..29043450 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.(?_28824392)_(28904205_?)del deletion Brody myopathy [RCV000707887] Chr16:28824392..28904205 [GRCh38]
Chr16:28835713..28915526 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NC_000016.10:g.(?_28351819)_(29325073_?)del deletion Schizophrenia [RCV000754181] Chr16:28351819..29325073 [GRCh38]
Chr16:16p12.1-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28834200-28835495)x1 copy number loss not provided [RCV000739113] Chr16:28834200..28835495 [GRCh37]
Chr16:16p11.2
benign
GRCh37/hg19 16p11.2(chr16:28834200-28835554)x1 copy number loss not provided [RCV000739114] Chr16:28834200..28835554 [GRCh37]
Chr16:16p11.2
benign
GRCh37/hg19 16p11.2(chr16:28529940-28906458) copy number loss Chromosome 16p11.2 deletion syndrome, 220 kb [RCV000767608] Chr16:28529940..28906458 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28734571-29043450) copy number loss Chromosome 16p11.2 deletion syndrome, 220 kb [RCV000767609] Chr16:28734571..29043450 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1 copy number loss not provided [RCV000848428] Chr16:28466730..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 copy number loss not provided [RCV000846340] Chr16:28466730..30191848 [GRCh37]
Chr16:16p11.2
pathogenic
NM_007245.3(ATXN2L):c.944T>C (p.Met315Thr) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850414] Chr16:28829968 [GRCh38]
Chr16:28841289 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3 copy number gain not provided [RCV000846620] Chr16:28371467..29416001 [GRCh37]
Chr16:16p11.2
pathogenic
NM_148414.2(ATXN2L):c.393+8G>A single nucleotide variant not provided [RCV000955133] Chr16:28825688 [GRCh38]
Chr16:28837009 [GRCh37]
Chr16:16p11.2
benign
NM_148414.2(ATXN2L):c.2412C>T (p.Pro804=) single nucleotide variant not provided [RCV000887047] Chr16:28834672 [GRCh38]
Chr16:28845993 [GRCh37]
Chr16:16p11.2
benign
Single allele deletion 16p11.2 deletion syndrome [RCV001031017] Chr16:28837450..29042118 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x3 copy number gain See cases [RCV001194555] Chr16:28825605..29043450 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:28545586-29351826)x3 copy number gain not provided [RCV001006790] Chr16:28545586..29351826 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2
not provided
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1 copy number loss not provided [RCV001006789] Chr16:28466730..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-28976572)x3 copy number gain not provided [RCV001258620] Chr16:28819028..28976572 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1 copy number loss not provided [RCV001258615] Chr16:28336673..29358712 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1 copy number loss not provided [RCV001258616] Chr16:28488319..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28384463-29343462)x3 copy number gain not provided [RCV001258621] Chr16:28384463..29343462 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28819028-28988225)x1 copy number loss not provided [RCV001258618] Chr16:28819028..28988225 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28615644-29042118) copy number gain Atrioventricular septal defect [RCV001291965] Chr16:28615644..29042118 [GRCh37]
Chr16:16p11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31326 AgrOrtholog
COSMIC ATXN2L COSMIC
Ensembl Genes ENSG00000168488 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000315650 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000338718 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000341459 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000372133 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378917 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454516 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454588 UniProtKB/TrEMBL
  ENSP00000454757 UniProtKB/TrEMBL
  ENSP00000455427 UniProtKB/TrEMBL
  ENSP00000455560 UniProtKB/TrEMBL
  ENSP00000455981 UniProtKB/TrEMBL
  ENSP00000456162 UniProtKB/TrEMBL
  ENSP00000456752 UniProtKB/TrEMBL
  ENSP00000456812 UniProtKB/TrEMBL
  ENSP00000457599 UniProtKB/TrEMBL
  ENSP00000457613 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000325215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000336783 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000340394 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382686 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000562583 UniProtKB/TrEMBL
  ENST00000563314 ENTREZGENE
  ENST00000564162 UniProtKB/TrEMBL
  ENST00000564304 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000564656 UniProtKB/TrEMBL
  ENST00000565971 UniProtKB/TrEMBL
  ENST00000566007 UniProtKB/TrEMBL
  ENST00000566946 UniProtKB/TrEMBL
  ENST00000567024 UniProtKB/TrEMBL
  ENST00000568266 UniProtKB/TrEMBL
  ENST00000569318 UniProtKB/TrEMBL
  ENST00000570200 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000168488 GTEx
HGNC ID HGNC:31326 ENTREZGENE
Human Proteome Map ATXN2L Human Proteome Map
InterPro Ataxin-2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LsmAD_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM_dom_ATX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11273 UniProtKB/Swiss-Prot
NCBI Gene 11273 ENTREZGENE
OMIM 607931 OMIM
Pfam LsmAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM-ATX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394585 PharmGKB
SMART LsmAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZ91_HUMAN UniProtKB/TrEMBL
  A0A024QZB7_HUMAN UniProtKB/TrEMBL
  A0A024QZC0_HUMAN UniProtKB/TrEMBL
  A0A0C4DGL7_HUMAN UniProtKB/TrEMBL
  ATX2L_HUMAN UniProtKB/Swiss-Prot
  H3BMX1_HUMAN UniProtKB/TrEMBL
  H3BPQ7_HUMAN UniProtKB/TrEMBL
  H3BQ14_HUMAN UniProtKB/TrEMBL
  H3BQX7_HUMAN UniProtKB/TrEMBL
  H3BRB0_HUMAN UniProtKB/TrEMBL
  H3BSK9_HUMAN UniProtKB/TrEMBL
  H3BSQ5_HUMAN UniProtKB/TrEMBL
  H3BUE3_HUMAN UniProtKB/TrEMBL
  H3BUF6 ENTREZGENE, UniProtKB/TrEMBL
  Q8WWM7 ENTREZGENE
UniProt Secondary A8K1R6 UniProtKB/Swiss-Prot
  B9EGM2 UniProtKB/Swiss-Prot
  E9PAR9 UniProtKB/Swiss-Prot
  O95135 UniProtKB/Swiss-Prot
  Q63ZY4 UniProtKB/Swiss-Prot
  Q6NVJ8 UniProtKB/Swiss-Prot
  Q6PJW6 UniProtKB/Swiss-Prot
  Q8IU61 UniProtKB/Swiss-Prot
  Q8IU95 UniProtKB/Swiss-Prot
  Q8WWM3 UniProtKB/Swiss-Prot
  Q8WWM4 UniProtKB/Swiss-Prot
  Q8WWM5 UniProtKB/Swiss-Prot
  Q8WWM6 UniProtKB/Swiss-Prot
  Q99703 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 ATXN2L  ataxin 2 like    ataxin 2-like  Symbol and/or name change 5135510 APPROVED
2011-09-01 ATXN2L  ataxin 2-like  ATXN2L  ataxin 2-like  Symbol and/or name change 5135510 APPROVED