APTX (aprataxin) - Rat Genome Database

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Gene: APTX (aprataxin) Homo sapiens
Analyze
Symbol: APTX
Name: aprataxin
RGD ID: 1606553
HGNC Page HGNC
Description: Exhibits several functions, including hydrolase activity, acting on ester bonds; nucleic acid binding activity; and protein N-terminus binding activity. Involved in DNA repair; regulation of protein stability; and response to hydrogen peroxide. Localizes to chromatin; nucleolus; and nucleoplasm. Implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT; FLJ20157; forkhead-associated domain histidine triad-like protein; MGC1072
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 Ensembl932,886,601 - 33,025,130 (-)EnsemblGRCh38hg38GRCh38
GRCh38932,883,872 - 33,025,120 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37932,972,614 - 33,025,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,962,608 - 32,991,626 (-)NCBINCBI36hg18NCBI36
Celera932,903,909 - 32,932,925 (-)NCBI
Cytogenetic Map9p21.1NCBI
HuRef932,930,986 - 32,960,001 (-)NCBIHuRef
CHM1_1932,972,285 - 33,001,325 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:3239952   PMID:7782601   PMID:7891378   PMID:11170899   PMID:11586299   PMID:11586300   PMID:12119013   PMID:12477932   PMID:12629250   PMID:14506070   PMID:14534929   PMID:14702039  
PMID:14755728   PMID:15044383   PMID:15164053   PMID:15164193   PMID:15276230   PMID:15365154   PMID:15367657   PMID:15380105   PMID:15489334   PMID:15555565   PMID:15596775   PMID:15699391  
PMID:15719174   PMID:15790557   PMID:15852392   PMID:16344560   PMID:16439205   PMID:16547001   PMID:16713569   PMID:16777843   PMID:16964241   PMID:17049295   PMID:17240329   PMID:17276982  
PMID:17485165   PMID:17519253   PMID:18202221   PMID:18836178   PMID:19103743   PMID:19561170   PMID:19643912   PMID:19759913   PMID:19861517   PMID:19953284   PMID:19960345   PMID:20008512  
PMID:20301317   PMID:20301629   PMID:20371676   PMID:20399152   PMID:21412945   PMID:21486904   PMID:21502511   PMID:21873635   PMID:21984210   PMID:24161509   PMID:24292625   PMID:24362567  
PMID:25416956   PMID:25637650   PMID:25910212   PMID:25976310   PMID:26186194   PMID:26285866   PMID:26496610   PMID:27470939   PMID:27769049   PMID:28192407   PMID:28514442   PMID:28652255  
PMID:28986522   PMID:29934293   PMID:30804502   PMID:30986824   PMID:31091453   PMID:31527615   PMID:31780661   PMID:32296183   PMID:32750061  


Genomics

Comparative Map Data
APTX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl932,886,601 - 33,025,130 (-)EnsemblGRCh38hg38GRCh38
GRCh38932,883,872 - 33,025,120 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37932,972,614 - 33,025,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,962,608 - 32,991,626 (-)NCBINCBI36hg18NCBI36
Celera932,903,909 - 32,932,925 (-)NCBI
Cytogenetic Map9p21.1NCBI
HuRef932,930,986 - 32,960,001 (-)NCBIHuRef
CHM1_1932,972,285 - 33,001,325 (-)NCBICHM1_1
Aptx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39440,682,078 - 40,703,206 (-)NCBIGRCm39mm39
GRCm39 Ensembl440,682,382 - 40,703,194 (-)Ensembl
GRCm38440,682,078 - 40,721,667 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl440,682,382 - 40,703,194 (-)EnsemblGRCm38mm10GRCm38
MGSCv37440,629,111 - 40,650,220 (-)NCBIGRCm37mm9NCBIm37
MGSCv36440,871,049 - 40,891,858 (-)NCBImm8
Celera440,342,394 - 40,363,460 (-)NCBICelera
Cytogenetic Map4A5NCBI
Aptx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2555,798,896 - 55,822,963 (-)NCBI
Rnor_6.0 Ensembl556,987,909 - 57,008,859 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0556,987,714 - 57,009,481 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0561,521,843 - 61,543,083 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,060,210 - 58,081,165 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1558,060,392 - 58,081,344 (-)NCBI
Celera554,414,271 - 54,435,214 (-)NCBICelera
Cytogenetic Map5q22NCBI
Aptx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554722,652,869 - 2,664,272 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554722,645,716 - 2,664,394 (+)NCBIChiLan1.0ChiLan1.0
APTX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1933,556,419 - 33,608,416 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl933,556,419 - 33,585,060 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0932,747,409 - 32,819,270 (-)NCBIMhudiblu_PPA_v0panPan3
APTX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11150,111,003 - 50,155,937 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1150,113,073 - 50,132,284 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1148,741,830 - 48,752,689 (-)NCBI
ROS_Cfam_1.01151,051,842 - 51,096,541 (-)NCBI
UMICH_Zoey_3.11149,716,952 - 49,727,812 (-)NCBI
UNSW_CanFamBas_1.01149,583,853 - 49,594,717 (-)NCBI
UU_Cfam_GSD_1.01150,348,839 - 50,359,700 (-)NCBI
Aptx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,022,018 - 165,052,707 (-)NCBI
SpeTri2.0NW_0049365241,569,610 - 1,582,103 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APTX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,445,168 - 33,771,582 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,470,089 - 33,495,584 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21037,724,516 - 37,837,919 (+)NCBISscrofa10.2Sscrofa10.2susScr3
APTX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11247,239,094 - 47,346,528 (+)NCBI
ChlSab1.1 Ensembl1247,258,798 - 47,287,102 (+)Ensembl
Vero_WHO_p1.0NW_02366603844,140,910 - 44,239,181 (+)NCBI
Aptx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473637,729,624 - 37,757,780 (-)NCBI

Position Markers
SHGC-148705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,987,134 - 32,987,427UniSTSGRCh37
Build 36932,977,134 - 32,977,427RGDNCBI36
Celera932,918,430 - 32,918,723RGD
Cytogenetic Map9p13.3UniSTS
HuRef932,945,494 - 32,945,787UniSTS
TNG Radiation Hybrid Map917001.0UniSTS
A009S13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,980,177 - 32,980,277UniSTSGRCh37
Build 36932,970,177 - 32,970,277RGDNCBI36
Celera932,911,477 - 32,911,577RGD
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef932,938,558 - 32,938,658UniSTS
GeneMap99-GB4 RH Map9125.89UniSTS
RH16252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,980,227 - 32,980,389UniSTSGRCh37
Build 36932,970,227 - 32,970,389RGDNCBI36
Celera932,911,527 - 32,911,689RGD
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef932,938,608 - 32,938,770UniSTS
GeneMap99-GB4 RH Map9121.94UniSTS
SHGC-34030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,980,170 - 32,980,319UniSTSGRCh37
Build 36932,970,170 - 32,970,319RGDNCBI36
Celera932,911,470 - 32,911,619RGD
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef932,938,551 - 32,938,700UniSTS
TNG Radiation Hybrid Map917018.0UniSTS
Stanford-G3 RH Map91349.0UniSTS
GeneMap99-GB4 RH Map9121.3UniSTS
Whitehead-RH Map9133.4UniSTS
GeneMap99-G3 RH Map91396.0UniSTS
G20636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,972,733 - 32,972,881UniSTSGRCh37
Build 36932,962,733 - 32,962,881RGDNCBI36
Celera932,904,034 - 32,904,182RGD
Cytogenetic Map9p13.3UniSTS
HuRef932,931,115 - 32,931,263UniSTS
A005Z44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,972,733 - 32,972,881UniSTSGRCh37
Build 36932,962,733 - 32,962,881RGDNCBI36
Celera932,904,034 - 32,904,182RGD
Cytogenetic Map9p13.3UniSTS
HuRef932,931,115 - 32,931,263UniSTS
GeneMap99-GB4 RH Map9124.41UniSTS
RH46890  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p13.3UniSTS
GeneMap99-GB4 RH Map9118.95UniSTS
NCBI RH Map9405.4UniSTS
G32803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,980,177 - 32,980,277UniSTSGRCh37
Celera932,911,477 - 32,911,577UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p21.1UniSTS
HuRef932,938,558 - 32,938,658UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11247
Count of miRNA genes:1031
Interacting mature miRNAs:1252
Transcripts:ENST00000309615, ENST00000379812, ENST00000379813, ENST00000379817, ENST00000379819, ENST00000379825, ENST00000397172, ENST00000436040, ENST00000460940, ENST00000460945, ENST00000463596, ENST00000464632, ENST00000465003, ENST00000467331, ENST00000468275, ENST00000472896, ENST00000473221, ENST00000473270, ENST00000474658, ENST00000476858, ENST00000477119, ENST00000478279, ENST00000479656, ENST00000480031, ENST00000482687, ENST00000483148, ENST00000485479, ENST00000486724, ENST00000489583, ENST00000494649, ENST00000494973, ENST00000495360, ENST00000496030
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 2109 1366 1478 370 1129 244 3563 981 2608 343 1443 1587 142 1061 2013 5 1
Low 330 1623 248 254 820 221 794 1216 1126 76 17 26 33 1 143 775 1 1
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA494365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB603741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ565850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ565851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ565852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ565853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ565854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ565855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ575566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX716699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ957536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA429601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS185575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA664623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB042208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000309615   ⟹   ENSP00000311547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,707 - 33,001,595 (-)Ensembl
RefSeq Acc Id: ENST00000379813   ⟹   ENSP00000369141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,396 - 33,001,612 (-)Ensembl
RefSeq Acc Id: ENST00000379817   ⟹   ENSP00000369145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,616 - 33,001,628 (-)Ensembl
RefSeq Acc Id: ENST00000379819   ⟹   ENSP00000369147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,753 - 33,001,620 (-)Ensembl
RefSeq Acc Id: ENST00000379825   ⟹   ENSP00000369153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,606 - 33,001,628 (-)Ensembl
RefSeq Acc Id: ENST00000397172   ⟹   ENSP00000380357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,616 - 33,001,607 (-)Ensembl
RefSeq Acc Id: ENST00000436040   ⟹   ENSP00000400806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,619 - 33,025,118 (-)Ensembl
RefSeq Acc Id: ENST00000460940   ⟹   ENSP00000418311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,677 - 33,025,102 (-)Ensembl
RefSeq Acc Id: ENST00000460945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,985,536 - 33,001,630 (-)Ensembl
RefSeq Acc Id: ENST00000463596   ⟹   ENSP00000419846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,376 - 33,001,522 (-)Ensembl
RefSeq Acc Id: ENST00000464632   ⟹   ENSP00000418069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,984,659 - 33,001,619 (-)Ensembl
RefSeq Acc Id: ENST00000465003   ⟹   ENSP00000419430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,620 - 33,001,583 (-)Ensembl
RefSeq Acc Id: ENST00000467331   ⟹   ENSP00000418733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,637 - 33,024,852 (-)Ensembl
RefSeq Acc Id: ENST00000468275   ⟹   ENSP00000420263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,421 - 33,024,870 (-)Ensembl
RefSeq Acc Id: ENST00000472896   ⟹   ENSP00000417804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,620 - 33,001,613 (-)Ensembl
RefSeq Acc Id: ENST00000473270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl933,015,888 - 33,025,110 (-)Ensembl
RefSeq Acc Id: ENST00000474658   ⟹   ENSP00000417750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,242 - 33,001,579 (-)Ensembl
RefSeq Acc Id: ENST00000476858   ⟹   ENSP00000419042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,376 - 33,001,641 (-)Ensembl
RefSeq Acc Id: ENST00000477119   ⟹   ENSP00000417649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,445 - 33,001,577 (-)Ensembl
RefSeq Acc Id: ENST00000478279   ⟹   ENSP00000419597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,984,659 - 33,001,619 (-)Ensembl
RefSeq Acc Id: ENST00000479656   ⟹   ENSP00000420071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,622 - 33,001,613 (-)Ensembl
RefSeq Acc Id: ENST00000480031   ⟹   ENSP00000417684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,984,715 - 33,001,595 (-)Ensembl
RefSeq Acc Id: ENST00000482687   ⟹   ENSP00000419289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,649 - 33,024,975 (-)Ensembl
RefSeq Acc Id: ENST00000483148   ⟹   ENSP00000419723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,649 - 33,001,587 (-)Ensembl
RefSeq Acc Id: ENST00000485479   ⟹   ENSP00000418144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,654 - 33,025,065 (-)Ensembl
RefSeq Acc Id: ENST00000486724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,980,388 - 32,987,762 (-)Ensembl
RefSeq Acc Id: ENST00000489583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl933,019,954 - 33,024,987 (-)Ensembl
RefSeq Acc Id: ENST00000494649   ⟹   ENSP00000417634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,616 - 33,001,521 (-)Ensembl
RefSeq Acc Id: ENST00000494973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,987,777 - 33,001,628 (-)Ensembl
RefSeq Acc Id: ENST00000495360   ⟹   ENSP00000419623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,376 - 33,025,102 (-)Ensembl
RefSeq Acc Id: ENST00000496030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,985,506 - 32,988,476 (-)Ensembl
RefSeq Acc Id: ENST00000671774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,774 - 32,987,624 (-)Ensembl
RefSeq Acc Id: ENST00000671912   ⟹   ENSP00000500871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,546 - 33,001,595 (-)Ensembl
RefSeq Acc Id: ENST00000672152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,618 - 32,990,088 (-)Ensembl
RefSeq Acc Id: ENST00000672244   ⟹   ENSP00000499875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,971,450 - 33,001,602 (-)Ensembl
RefSeq Acc Id: ENST00000672281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,376 - 33,017,868 (-)Ensembl
RefSeq Acc Id: ENST00000672286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,756 - 33,001,587 (-)Ensembl
RefSeq Acc Id: ENST00000672438   ⟹   ENSP00000499997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,651 - 33,001,628 (-)Ensembl
RefSeq Acc Id: ENST00000672476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,618 - 32,990,088 (-)Ensembl
RefSeq Acc Id: ENST00000672493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,763 - 32,988,565 (-)Ensembl
RefSeq Acc Id: ENST00000672519   ⟹   ENSP00000500320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,943,892 - 33,001,613 (-)Ensembl
RefSeq Acc Id: ENST00000672535   ⟹   ENSP00000499872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,376 - 33,001,587 (-)Ensembl
RefSeq Acc Id: ENST00000672553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,988,724 - 33,001,608 (-)Ensembl
RefSeq Acc Id: ENST00000672615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,618 - 32,990,088 (-)Ensembl
RefSeq Acc Id: ENST00000672846   ⟹   ENSP00000500396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,886,601 - 33,001,608 (-)Ensembl
RefSeq Acc Id: ENST00000673114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,982,981 - 32,988,126 (-)Ensembl
RefSeq Acc Id: ENST00000673171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,618 - 32,990,088 (-)Ensembl
RefSeq Acc Id: ENST00000673181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,973,440 - 32,975,901 (-)Ensembl
RefSeq Acc Id: ENST00000673211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,618 - 32,990,088 (-)Ensembl
RefSeq Acc Id: ENST00000673248   ⟹   ENSP00000500601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,771 - 33,025,065 (-)Ensembl
RefSeq Acc Id: ENST00000673333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,627 - 32,988,540 (-)Ensembl
RefSeq Acc Id: ENST00000673360   ⟹   ENSP00000500360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,971,474 - 33,025,062 (-)Ensembl
RefSeq Acc Id: ENST00000673416   ⟹   ENSP00000500738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,971,451 - 33,001,587 (-)Ensembl
RefSeq Acc Id: ENST00000673485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,618 - 32,990,088 (-)Ensembl
RefSeq Acc Id: ENST00000673487   ⟹   ENSP00000500943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,637 - 33,025,130 (-)Ensembl
RefSeq Acc Id: ENST00000673598   ⟹   ENSP00000499991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,972,661 - 33,001,577 (-)Ensembl
RefSeq Acc Id: NM_001195248   ⟹   NP_001182177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,325 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195249   ⟹   NP_001182178
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,260 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195250   ⟹   NP_001182179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,325 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195251   ⟹   NP_001182180
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,325 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195252   ⟹   NP_001182181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,325 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195254   ⟹   NP_001182183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,296 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368995   ⟹   NP_001355924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001368996   ⟹   NP_001355925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001368997   ⟹   NP_001355926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001368998   ⟹   NP_001355927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NM_001368999   ⟹   NP_001355928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001369000   ⟹   NP_001355929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001369001   ⟹   NP_001355930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001369002   ⟹   NP_001355931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001369003   ⟹   NP_001355932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NM_001369004   ⟹   NP_001355933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NM_001369005   ⟹   NP_001355934
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NM_001369006   ⟹   NP_001355935
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NM_001370669   ⟹   NP_001357598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NM_001370670   ⟹   NP_001357599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NM_001370673   ⟹   NP_001357602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NM_175069   ⟹   NP_778239
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
Build 36932,962,608 - 32,991,626 (-)NCBI Archive
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,325 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175073   ⟹   NP_778243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
Build 36932,962,608 - 32,991,606 (-)NCBI Archive
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,325 (-)NCBI
Sequence:
RefSeq Acc Id: NR_036577
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
GRCh37932,972,604 - 33,001,639 (-)ENTREZGENE
HuRef932,930,986 - 32,960,001 (-)ENTREZGENE
CHM1_1932,972,285 - 33,001,325 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160920
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NR_160921
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NR_160922
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160923
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160924
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160925
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160926
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160927
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160928
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160929
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,025,120 (-)NCBI
RefSeq Acc Id: NR_160930
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: NR_160931
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,616 - 33,001,628 (-)NCBI
RefSeq Acc Id: XM_011517938   ⟹   XP_011516240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,613 - 32,997,343 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014831   ⟹   XP_016870320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,883,872 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014832   ⟹   XP_016870321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,887,113 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014833   ⟹   XP_016870322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,947,348 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014836   ⟹   XP_016870325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,953,003 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447578   ⟹   XP_024303346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,926,382 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746325
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,612 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746326
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,612 - 33,001,598 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929276
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,610 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929277
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,972,610 - 33,001,641 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929279
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,973,601 - 33,001,641 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001182177 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182178 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182179 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182180 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182183 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355924 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355925 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355926 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355927 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355928 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355929 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355930 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355931 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355932 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355933 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355934 (Get FASTA)   NCBI Sequence Viewer  
  NP_001355935 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357598 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357602 (Get FASTA)   NCBI Sequence Viewer  
  NP_778239 (Get FASTA)   NCBI Sequence Viewer  
  NP_778243 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516240 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870320 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870321 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870322 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870325 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303346 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01628 (Get FASTA)   NCBI Sequence Viewer  
  AAH32650 (Get FASTA)   NCBI Sequence Viewer  
  AAI04882 (Get FASTA)   NCBI Sequence Viewer  
  AAK91768 (Get FASTA)   NCBI Sequence Viewer  
  AAP86319 (Get FASTA)   NCBI Sequence Viewer  
  AAP86320 (Get FASTA)   NCBI Sequence Viewer  
  AAP86321 (Get FASTA)   NCBI Sequence Viewer  
  AAP86322 (Get FASTA)   NCBI Sequence Viewer  
  AAP86323 (Get FASTA)   NCBI Sequence Viewer  
  AAP86324 (Get FASTA)   NCBI Sequence Viewer  
  AAP86325 (Get FASTA)   NCBI Sequence Viewer  
  AAP86326 (Get FASTA)   NCBI Sequence Viewer  
  AAP86327 (Get FASTA)   NCBI Sequence Viewer  
  AAP86328 (Get FASTA)   NCBI Sequence Viewer  
  AAP86329 (Get FASTA)   NCBI Sequence Viewer  
  AAP86330 (Get FASTA)   NCBI Sequence Viewer  
  AAP86331 (Get FASTA)   NCBI Sequence Viewer  
  AAP86332 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74130 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74131 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74132 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74133 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74134 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74135 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74136 (Get FASTA)   NCBI Sequence Viewer  
  AAQ74137 (Get FASTA)   NCBI Sequence Viewer  
  BAA90985 (Get FASTA)   NCBI Sequence Viewer  
  BAG51552 (Get FASTA)   NCBI Sequence Viewer  
  BAK31015 (Get FASTA)   NCBI Sequence Viewer  
  CAD88901 (Get FASTA)   NCBI Sequence Viewer  
  CAD92454 (Get FASTA)   NCBI Sequence Viewer  
  CAD92455 (Get FASTA)   NCBI Sequence Viewer  
  CAD92456 (Get FASTA)   NCBI Sequence Viewer  
  CAD92457 (Get FASTA)   NCBI Sequence Viewer  
  CAD92458 (Get FASTA)   NCBI Sequence Viewer  
  CAD92459 (Get FASTA)   NCBI Sequence Viewer  
  CAD98041 (Get FASTA)   NCBI Sequence Viewer  
  CAE01427 (Get FASTA)   NCBI Sequence Viewer  
  CAJ42756 (Get FASTA)   NCBI Sequence Viewer  
  EAW58528 (Get FASTA)   NCBI Sequence Viewer  
  EAW58529 (Get FASTA)   NCBI Sequence Viewer  
  EAW58530 (Get FASTA)   NCBI Sequence Viewer  
  EAW58531 (Get FASTA)   NCBI Sequence Viewer  
  EAW58532 (Get FASTA)   NCBI Sequence Viewer  
  EAW58533 (Get FASTA)   NCBI Sequence Viewer  
  EAW58534 (Get FASTA)   NCBI Sequence Viewer  
  EAW58535 (Get FASTA)   NCBI Sequence Viewer  
  Q7Z2E3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001182179   ⟸   NM_001195250
- Peptide Label: isoform h
- Sequence:
RefSeq Acc Id: NP_001182181   ⟸   NM_001195252
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001182177   ⟸   NM_001195248
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_778239   ⟸   NM_175069
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_778243   ⟸   NM_175073
- Peptide Label: isoform a
- UniProtKB: Q7Z2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182180   ⟸   NM_001195251
- Peptide Label: isoform g
- UniProtKB: Q7Z2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182183   ⟸   NM_001195254
- Peptide Label: isoform h
- UniProtKB: Q7Z2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182178   ⟸   NM_001195249
- Peptide Label: isoform a
- UniProtKB: Q7Z2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516240   ⟸   XM_011517938
- Peptide Label: isoform X9
- UniProtKB: Q7Z2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870320   ⟸   XM_017014831
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016870321   ⟸   XM_017014832
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016870322   ⟸   XM_017014833
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016870325   ⟸   XM_017014836
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024303346   ⟸   XM_024447578
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001355930   ⟸   NM_001369001
- Peptide Label: isoform h
RefSeq Acc Id: NP_001355925   ⟸   NM_001368996
- Peptide Label: isoform a
RefSeq Acc Id: NP_001355931   ⟸   NM_001369002
- Peptide Label: isoform j
RefSeq Acc Id: NP_001355924   ⟸   NM_001368995
- Peptide Label: isoform a
RefSeq Acc Id: NP_001355929   ⟸   NM_001369000
- Peptide Label: isoform h
RefSeq Acc Id: NP_001355932   ⟸   NM_001369003
- Peptide Label: isoform j
RefSeq Acc Id: NP_001355926   ⟸   NM_001368997
- Peptide Label: isoform a
RefSeq Acc Id: NP_001355928   ⟸   NM_001368999
- Peptide Label: isoform g
RefSeq Acc Id: NP_001355933   ⟸   NM_001369004
- Peptide Label: isoform j
RefSeq Acc Id: NP_001357598   ⟸   NM_001370669
- Peptide Label: isoform j
RefSeq Acc Id: NP_001355935   ⟸   NM_001369006
- Peptide Label: isoform k
RefSeq Acc Id: NP_001355934   ⟸   NM_001369005
- Peptide Label: isoform j
RefSeq Acc Id: NP_001357599   ⟸   NM_001370670
- Peptide Label: isoform j
RefSeq Acc Id: NP_001355927   ⟸   NM_001368998
- Peptide Label: isoform a
RefSeq Acc Id: NP_001357602   ⟸   NM_001370673
- Peptide Label: isoform j
RefSeq Acc Id: ENSP00000499991   ⟸   ENST00000673598
RefSeq Acc Id: ENSP00000500943   ⟸   ENST00000673487
RefSeq Acc Id: ENSP00000500738   ⟸   ENST00000673416
RefSeq Acc Id: ENSP00000500360   ⟸   ENST00000673360
RefSeq Acc Id: ENSP00000500601   ⟸   ENST00000673248
RefSeq Acc Id: ENSP00000419846   ⟸   ENST00000463596
RefSeq Acc Id: ENSP00000417649   ⟸   ENST00000477119
RefSeq Acc Id: ENSP00000418069   ⟸   ENST00000464632
RefSeq Acc Id: ENSP00000419597   ⟸   ENST00000478279
RefSeq Acc Id: ENSP00000420071   ⟸   ENST00000479656
RefSeq Acc Id: ENSP00000419430   ⟸   ENST00000465003
RefSeq Acc Id: ENSP00000311547   ⟸   ENST00000309615
RefSeq Acc Id: ENSP00000418733   ⟸   ENST00000467331
RefSeq Acc Id: ENSP00000420263   ⟸   ENST00000468275
RefSeq Acc Id: ENSP00000417684   ⟸   ENST00000480031
RefSeq Acc Id: ENSP00000417634   ⟸   ENST00000494649
RefSeq Acc Id: ENSP00000419623   ⟸   ENST00000495360
RefSeq Acc Id: ENSP00000419289   ⟸   ENST00000482687
RefSeq Acc Id: ENSP00000369145   ⟸   ENST00000379817
RefSeq Acc Id: ENSP00000369141   ⟸   ENST00000379813
RefSeq Acc Id: ENSP00000369147   ⟸   ENST00000379819
RefSeq Acc Id: ENSP00000369153   ⟸   ENST00000379825
RefSeq Acc Id: ENSP00000419723   ⟸   ENST00000483148
RefSeq Acc Id: ENSP00000418144   ⟸   ENST00000485479
RefSeq Acc Id: ENSP00000417804   ⟸   ENST00000472896
RefSeq Acc Id: ENSP00000418311   ⟸   ENST00000460940
RefSeq Acc Id: ENSP00000417750   ⟸   ENST00000474658
RefSeq Acc Id: ENSP00000500871   ⟸   ENST00000671912
RefSeq Acc Id: ENSP00000400806   ⟸   ENST00000436040
RefSeq Acc Id: ENSP00000380357   ⟸   ENST00000397172
RefSeq Acc Id: ENSP00000499875   ⟸   ENST00000672244
RefSeq Acc Id: ENSP00000419042   ⟸   ENST00000476858
RefSeq Acc Id: ENSP00000500320   ⟸   ENST00000672519
RefSeq Acc Id: ENSP00000499872   ⟸   ENST00000672535
RefSeq Acc Id: ENSP00000499997   ⟸   ENST00000672438
RefSeq Acc Id: ENSP00000500396   ⟸   ENST00000672846
Protein Domains
FHA-like   FHA_2   HIT

Promoters
RGD ID:6807548
Promoter ID:HG_KWN:62892
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000379817,   NM_175072
Position:
Human AssemblyChrPosition (strand)Source
Build 36932,987,856 - 32,988,356 (-)MPROMDB
RGD ID:6807546
Promoter ID:HG_KWN:62893
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:ENST00000344355,   ENST00000379813,   ENST00000379827,   ENST00000397172,   NM_175069,   UC003ZRO.1,   UC003ZRP.1,   UC003ZRQ.1,   UC003ZRR.1,   UC003ZRS.1,   UC003ZRT.1,   UC003ZRU.1,   UC003ZRW.1,   UC003ZRX.1,   UC003ZRY.1,   UC003ZSB.1,   UC003ZSC.1,   UC010MJN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36932,991,506 - 32,992,357 (-)MPROMDB
RGD ID:7214859
Promoter ID:EPDNEW_H13175
Type:initiation region
Name:APTX_1
Description:aprataxin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,001,587 - 33,001,647EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG insertion Ataxia-oculomotor apraxia type 1 [RCV000988173]|not specified [RCV000517945] Chr9:32986032..32986033 [GRCh38]
Chr9:32986030..32986031 [GRCh37]
Chr9:9p21.1
likely benign|uncertain significance
NM_001195248.2(APTX):c.874+10G>A single nucleotide variant not specified [RCV000516247] Chr9:32974448 [GRCh38]
Chr9:32974446 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.689dup (p.Glu232fs) duplication Ataxia-oculomotor apraxia type 1 [RCV000004675] Chr9:32984711..32984712 [GRCh38]
Chr9:32984709..32984710 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000004676] Chr9:32984784 [GRCh38]
Chr9:32984782 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.841del (p.Ser281fs) deletion Ataxia-oculomotor apraxia type 1 [RCV000004677] Chr9:32974491 [GRCh38]
Chr9:32974489 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000004678] Chr9:32974544 [GRCh38]
Chr9:32974542 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.602A>G (p.His201Arg) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000004679] Chr9:32984799 [GRCh38]
Chr9:32984797 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.875-1G>A single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000004680] Chr9:32973653 [GRCh38]
Chr9:32973651 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000004681]|not provided [RCV000197775] Chr9:32974495 [GRCh38]
Chr9:32974493 [GRCh37]
Chr9:9p21.1
pathogenic
NC_000009.12:g.(?_32973498)_(33001604_?)del deletion Ataxia-oculomotor apraxia type 1 [RCV000004682] Chr9:32973498..33001604 [GRCh38]
Chr9:9p13.3
pathogenic
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000004683] Chr9:32984733 [GRCh38]
Chr9:32984731 [GRCh37]
Chr9:9p21.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
NM_001195248.2(APTX):c.318C>T (p.Asn106=) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167211]|not provided [RCV000676812]|not specified [RCV000123679] Chr9:32987709 [GRCh38]
Chr9:32987707 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167210]|not provided [RCV000420490]|not specified [RCV000179035] Chr9:32987596 [GRCh38]
Chr9:32987594 [GRCh37]
Chr9:9p21.1
benign|likely benign
NM_001195248.2(APTX):c.484-13G>T single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000346974]|Ataxia-oculomotor apraxia type 1 [RCV000289641]|not specified [RCV000123681] Chr9:32986043 [GRCh38]
Chr9:32986041 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000612640]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000407383]|not provided [RCV000513413]|not specified [RCV000123682] Chr9:32973556 [GRCh38]
Chr9:32973554 [GRCh37]
Chr9:9p21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001195248.2(APTX):c.-5+16G>T single nucleotide variant not specified [RCV000123683] Chr9:33001551 [GRCh38]
Chr9:33001549 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.484-25_484-5del deletion Ataxia with Oculomotor Apraxia [RCV000263758]|Ataxia-oculomotor apraxia type 1 [RCV000999774]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000319013]|not provided [RCV000676810]|not specified [RCV000179561] Chr9:32986035..32986055 [GRCh38]
Chr9:32986033..32986053 [GRCh37]
Chr9:9p21.1
benign|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001195248.2(APTX):c.484-3del deletion not provided [RCV000676808]|not specified [RCV000202953] Chr9:32986033 [GRCh38]
Chr9:32986031 [GRCh37]
Chr9:9p21.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
NM_001195248.2(APTX):c.484-25_484-10del deletion not provided [RCV000179562] Chr9:32986040..32986055 [GRCh38]
Chr9:32986038..32986053 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_175073.2(APTX):c.725G>A (p.Ser242Asn) single nucleotide variant not specified [RCV000196684] Chr9:32984676 [GRCh38]
Chr9:32984674 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001165622]|not provided [RCV000710078] Chr9:32984659 [GRCh38]
Chr9:32984657 [GRCh37]
Chr9:9p21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001195248.2(APTX):c.337A>G (p.Arg113Gly) single nucleotide variant not specified [RCV000197323] Chr9:32987690 [GRCh38]
Chr9:32987688 [GRCh37]
Chr9:9p21.1
likely benign
NM_175073.2(APTX):c.-194C>G single nucleotide variant not specified [RCV000197600] Chr9:33001650 [GRCh38]
Chr9:33001648 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.734G>A (p.Arg245His) single nucleotide variant not specified [RCV000195599] Chr9:32984667 [GRCh38]
Chr9:32984665 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.596G>A (p.Arg199His) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000988172]|not provided [RCV000514430]|not specified [RCV000596207] Chr9:32984805 [GRCh38]
Chr9:32984803 [GRCh37]
Chr9:9p21.1
benign|likely benign
NM_001195248.2(APTX):c.771-20dup duplication Ataxia with Oculomotor Apraxia [RCV000365200]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000310585]|not specified [RCV000199367] Chr9:32974572..32974573 [GRCh38]
Chr9:32974570..32974571 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.-5+4314A>T single nucleotide variant not specified [RCV000195782] Chr9:32997253 [GRCh38]
Chr9:32997251 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.814T>C (p.Cys272Arg) single nucleotide variant not provided [RCV000195919] Chr9:32974518 [GRCh38]
Chr9:32974516 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.667C>T (p.Leu223Phe) single nucleotide variant not provided [RCV000199604] Chr9:32984734 [GRCh38]
Chr9:32984732 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000274167]|Ataxia-oculomotor apraxia type 1 [RCV000357224]|not provided [RCV000200146] Chr9:32989874 [GRCh38]
Chr9:32989872 [GRCh37]
Chr9:9p21.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001195248.2(APTX):c.762G>A (p.Pro254=) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000265858]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000302324]|not provided [RCV000710596]|not specified [RCV000396031] Chr9:32984639 [GRCh38]
Chr9:32984637 [GRCh37]
Chr9:9p21.1
benign|likely benign|uncertain significance
NM_001195248.2(APTX):c.771-20_771-19dup duplication not provided [RCV000224465] Chr9:32974572..32974573 [GRCh38]
Chr9:32974570..32974571 [GRCh37]
Chr9:9p21.1
benign
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
NM_001195248.2(APTX):c.585C>T (p.Tyr195=) single nucleotide variant not specified [RCV000606026] Chr9:32984816 [GRCh38]
Chr9:32984814 [GRCh37]
Chr9:9p21.1
likely benign
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001195248.2(APTX):c.770+10G>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001165621]|not specified [RCV000517095] Chr9:32984621 [GRCh38]
Chr9:32984619 [GRCh37]
Chr9:9p21.1
benign|uncertain significance
NM_001195248.2(APTX):c.513G>A (p.Leu171=) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001165625]|not provided [RCV000755827]|not specified [RCV000242502] Chr9:32986001 [GRCh38]
Chr9:32985999 [GRCh37]
Chr9:9p21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001195248.2(APTX):c.*606G>A single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000321961]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000376611] Chr9:32972892 [GRCh38]
Chr9:32972890 [GRCh37]
Chr9:9p21.1
benign|uncertain significance
NM_001195248.2(APTX):c.874+14C>G single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000345557]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000407387] Chr9:32974444 [GRCh38]
Chr9:32974442 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*834C>G single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000270235]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000325267] Chr9:32972664 [GRCh38]
Chr9:32972662 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*605G>A single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000323096]|Ataxia-oculomotor apraxia type 1 [RCV000286856] Chr9:32972893 [GRCh38]
Chr9:32972891 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*806G>A single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000271468]|Ataxia-oculomotor apraxia type 1 [RCV000366064] Chr9:32972692 [GRCh38]
Chr9:32972690 [GRCh37]
Chr9:9p21.1
benign|uncertain significance
NM_001195248.2(APTX):c.134-12A>C single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000353666]|Ataxia-oculomotor apraxia type 1 [RCV000305808]|not specified [RCV000614999] Chr9:32988141 [GRCh38]
Chr9:32988139 [GRCh37]
Chr9:9p21.1
likely benign|uncertain significance
NM_001195248.2(APTX):c.484-12T>G single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000381780]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000352866]|not specified [RCV000441420] Chr9:32986042 [GRCh38]
Chr9:32986040 [GRCh37]
Chr9:9p21.1
benign|likely benign
NM_001195248.2(APTX):c.*858C>G single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000405946]|Ataxia-oculomotor apraxia type 1 [RCV000355945] Chr9:32972640 [GRCh38]
Chr9:32972638 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.484-12_484-11insG insertion Ataxia with Oculomotor Apraxia [RCV000387566]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000293319] Chr9:32986041..32986042 [GRCh38]
Chr9:32986039..32986040 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.*187G>C single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000293733]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000348600] Chr9:32973311 [GRCh38]
Chr9:32973309 [GRCh37]
Chr9:9p21.1
benign|uncertain significance
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000299791]|Ataxia-oculomotor apraxia type 1 [RCV000261003] Chr9:32989812 [GRCh38]
Chr9:32989810 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*454G>C single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000278513]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000373051] Chr9:32973044 [GRCh38]
Chr9:32973042 [GRCh37]
Chr9:9p21.1
benign|likely benign
NM_001195248.2(APTX):c.*851_*852del deletion Ataxia with Oculomotor Apraxia [RCV000369506]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000314782] Chr9:32972646..32972647 [GRCh38]
Chr9:32972644..32972645 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000317779]|Ataxia-oculomotor apraxia type 1 [RCV000372390]|not provided [RCV000999149] Chr9:32984661 [GRCh38]
Chr9:32984659 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.183A>G (p.Val61=) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000341047]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000391780] Chr9:32987844 [GRCh38]
Chr9:32987842 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.742T>C (p.Leu248=) single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000361903]|Ataxia-oculomotor apraxia type 1 [RCV000267173] Chr9:32984659 [GRCh38]
Chr9:32984657 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.953G>A (p.Arg318His) single nucleotide variant not provided [RCV000351313] Chr9:32973574 [GRCh38]
Chr9:32973572 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.989C>A (p.Pro330His) single nucleotide variant not provided [RCV000324352] Chr9:32973538 [GRCh38]
Chr9:32973536 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.484-25_484-3del deletion not provided [RCV000676807]|not specified [RCV000405080] Chr9:32986033..32986055 [GRCh38]
Chr9:32986031..32986053 [GRCh37]
Chr9:9p21.1
benign|likely benign
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) single nucleotide variant Ataxia with Oculomotor Apraxia [RCV000302438]|Ataxia-oculomotor apraxia type 1 [RCV000390070] Chr9:32987652 [GRCh38]
Chr9:32987650 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*363C>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000338156]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000374143] Chr9:32973135 [GRCh38]
Chr9:32973133 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.484-25_484-4del deletion Ataxia-oculomotor apraxia type 1 [RCV000601113]|not provided [RCV000676809]|not specified [RCV000728518] Chr9:32986034..32986055 [GRCh38]
Chr9:32986032..32986053 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.*141G>A single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001169596] Chr9:32973357 [GRCh38]
Chr9:32973355 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.164A>G (p.Tyr55Cys) single nucleotide variant not provided [RCV000416044] Chr9:32988099 [GRCh38]
Chr9:32988097 [GRCh37]
Chr9:9p21.1
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001195248.2(APTX):c.-55C>T single nucleotide variant not specified [RCV000424116] Chr9:33001617 [GRCh38]
Chr9:33001615 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.-5+4332C>A single nucleotide variant not specified [RCV000419864] Chr9:32997235 [GRCh38]
Chr9:32997233 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.544-4C>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001165624]|not provided [RCV000929987]|not specified [RCV000436681] Chr9:32984861 [GRCh38]
Chr9:32984859 [GRCh37]
Chr9:9p21.1
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001195248.2(APTX):c.484-13del deletion not specified [RCV000454771] Chr9:32986043 [GRCh38]
Chr9:32986041 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.484-13_484-12delinsTG indel not specified [RCV000478190] Chr9:32986042..32986043 [GRCh38]
Chr9:32986040..32986041 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000616687]|not provided [RCV000480449] Chr9:32989768 [GRCh38]
Chr9:32989766 [GRCh37]
Chr9:9p21.1
pathogenic|likely pathogenic
NM_001195248.2(APTX):c.875-2A>G single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000501832] Chr9:32973654 [GRCh38]
Chr9:32973652 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.4A>T (p.Met2Leu) single nucleotide variant not provided [RCV000493567] Chr9:32989888 [GRCh38]
Chr9:32989886 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.835T>C (p.Trp279Arg) single nucleotide variant not provided [RCV000493796] Chr9:32974497 [GRCh38]
Chr9:32974495 [GRCh37]
Chr9:9p21.1
likely pathogenic
NM_001195248.2(APTX):c.697A>T (p.Lys233Ter) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000490800] Chr9:32984704 [GRCh38]
Chr9:32984702 [GRCh37]
Chr9:9p21.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
NM_001195248.2(APTX):c.-45C>G single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167792]|not specified [RCV000601159] Chr9:33001607 [GRCh38]
Chr9:33001605 [GRCh37]
Chr9:9p21.1
likely benign|uncertain significance
NM_001195248.2(APTX):c.-5+4224dup duplication not specified [RCV000601717] Chr9:32997335..32997336 [GRCh38]
Chr9:32997333..32997334 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.429C>T (p.Asn143=) single nucleotide variant not specified [RCV000607688] Chr9:32987598 [GRCh38]
Chr9:32987596 [GRCh37]
Chr9:9p21.1
likely benign
NM_175073.2(APTX):c.-194C>T single nucleotide variant not specified [RCV000605677] Chr9:33001650 [GRCh38]
Chr9:33001648 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.-5+10T>C single nucleotide variant not specified [RCV000607479] Chr9:33001557 [GRCh38]
Chr9:33001555 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.-5+4328C>T single nucleotide variant not specified [RCV000613362] Chr9:32997239 [GRCh38]
Chr9:32997237 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.618G>T (p.Pro206=) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001165623]|not specified [RCV000603717] Chr9:32984783 [GRCh38]
Chr9:32984781 [GRCh37]
Chr9:9p21.1
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
NM_001195248.2(APTX):c.484-25_484-6del deletion Ataxia-oculomotor apraxia type 1 [RCV001001923]|not provided [RCV000676811] Chr9:32986036..32986055 [GRCh38]
Chr9:32986034..32986053 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.548A>G (p.Tyr183Cys) single nucleotide variant not provided [RCV000676806] Chr9:32984853 [GRCh38]
Chr9:32984851 [GRCh37]
Chr9:9p21.1
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_001195248.2(APTX):c.-5+2T>G single nucleotide variant Coenzyme Q10 deficiency, primary 1 [RCV000721992] Chr9:33001565 [GRCh38]
Chr9:33001563 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.491T>C (p.Leu164Pro) single nucleotide variant not provided [RCV000710595] Chr9:32986023 [GRCh38]
Chr9:32986021 [GRCh37]
Chr9:9p21.1
uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:32912345-33564154)x3 copy number gain not provided [RCV000748375] Chr9:32912345..33564154 [GRCh37]
Chr9:9p21.1-13.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001195248.2(APTX):c.353C>G (p.Ser118Ter) single nucleotide variant not provided [RCV000762557] Chr9:32987674 [GRCh38]
Chr9:32987672 [GRCh37]
Chr9:9p21.1
likely pathogenic
NM_001195248.2(APTX):c.940_956del (p.Lys314fs) deletion not provided [RCV001090492] Chr9:32973571..32973587 [GRCh38]
Chr9:32973569..32973585 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.559C>T (p.Gln187Ter) single nucleotide variant not provided [RCV001090493] Chr9:32984842 [GRCh38]
Chr9:32984840 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.484-15_484-3del deletion not provided [RCV000947163] Chr9:32986033..32986045 [GRCh38]
Chr9:32986031..32986043 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.771-5A>G single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001169599]|not provided [RCV000925927] Chr9:32974566 [GRCh38]
Chr9:32974564 [GRCh37]
Chr9:9p21.1
likely benign|uncertain significance
NM_001195248.2(APTX):c.210A>G (p.Ser70=) single nucleotide variant not provided [RCV000982468] Chr9:32987817 [GRCh38]
Chr9:32987815 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.484-1G>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV000785175] Chr9:32986031 [GRCh38]
Chr9:32986029 [GRCh37]
Chr9:9p21.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001195248.2(APTX):c.108T>G (p.Thr36=) single nucleotide variant not provided [RCV000980838] Chr9:32989784 [GRCh38]
Chr9:32989782 [GRCh37]
Chr9:9p21.1
likely benign
GRCh37/hg19 9p21.1(chr9:32898552-32991939)x3 copy number gain not provided [RCV000849011] Chr9:32898552..32991939 [GRCh37]
Chr9:9p21.1
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_001195248.2(APTX):c.*636C>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167143] Chr9:32972862 [GRCh38]
Chr9:32972860 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*476C>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167721] Chr9:32973022 [GRCh38]
Chr9:32973020 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.3G>A (p.Met1Ile) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167790] Chr9:32989889 [GRCh38]
Chr9:32989887 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.-5+4337A>G single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167791] Chr9:32997230 [GRCh38]
Chr9:32997228 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.102G>C (p.Lys34Asn) single nucleotide variant not provided [RCV001090494] Chr9:32989790 [GRCh38]
Chr9:32989788 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.776del (p.Val259fs) deletion Ataxia-oculomotor apraxia type 1 [RCV000786024] Chr9:32974556 [GRCh38]
Chr9:32974554 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.558G>A (p.Glu186=) single nucleotide variant not provided [RCV000938177] Chr9:32984843 [GRCh38]
Chr9:32984841 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.*610G>C single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167720] Chr9:32972888 [GRCh38]
Chr9:32972886 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.875-3C>T single nucleotide variant not provided [RCV000999148] Chr9:32973655 [GRCh38]
Chr9:32973653 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.-5+1G>T single nucleotide variant not provided [RCV000999150] Chr9:33001566 [GRCh38]
Chr9:33001564 [GRCh37]
Chr9:9p21.1
likely pathogenic
NM_001195248.2(APTX):c.506_507insCTGG (p.Gln169fs) insertion not provided [RCV000991533] Chr9:32986007..32986008 [GRCh38]
Chr9:32986005..32986006 [GRCh37]
Chr9:9p21.1
likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001195248.2(APTX):c.86G>A (p.Arg29His) single nucleotide variant not provided [RCV000991536] Chr9:32989806 [GRCh38]
Chr9:32989804 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001195418] Chr9:32989846 [GRCh38]
Chr9:32989844 [GRCh37]
Chr9:9p21.1
likely pathogenic
NM_001195248.2(APTX):c.710A>G (p.Asp237Gly) single nucleotide variant not provided [RCV000991535] Chr9:32984691 [GRCh38]
Chr9:32984689 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_175073.2(APTX):c.-187C>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167793] Chr9:33001643 [GRCh38]
Chr9:33001641 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*756G>A single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167142] Chr9:32972742 [GRCh38]
Chr9:32972740 [GRCh37]
Chr9:9p21.1
benign
NM_001195248.2(APTX):c.770+7C>G single nucleotide variant not provided [RCV000980367] Chr9:32984624 [GRCh38]
Chr9:32984622 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.770+9G>A single nucleotide variant not provided [RCV000978479] Chr9:32984622 [GRCh38]
Chr9:32984620 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.686del (p.Thr229fs) deletion not provided [RCV000991534] Chr9:32984715 [GRCh38]
Chr9:32984713 [GRCh37]
Chr9:9p21.1
likely pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_001195248.2(APTX):c.38G>A (p.Arg13Gln) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167789] Chr9:32989854 [GRCh38]
Chr9:32989852 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*215G>C single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001169595] Chr9:32973283 [GRCh38]
Chr9:32973281 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.854A>G (p.Glu285Gly) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001169597] Chr9:32974478 [GRCh38]
Chr9:32974476 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.853G>A (p.Glu285Lys) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001169598] Chr9:32974479 [GRCh38]
Chr9:32974477 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.-5+6G>A single nucleotide variant not provided [RCV001172004] Chr9:33001561 [GRCh38]
Chr9:33001559 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.496C>T (p.His166Tyr) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167209] Chr9:32986018 [GRCh38]
Chr9:32986016 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*310G>A single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167722] Chr9:32973188 [GRCh38]
Chr9:32973186 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.*293C>G single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001167723] Chr9:32973205 [GRCh38]
Chr9:32973203 [GRCh37]
Chr9:9p21.1
likely benign
NM_001195248.2(APTX):c.396T>A (p.Ala132=) single nucleotide variant not provided [RCV001288441] Chr9:32987631 [GRCh38]
Chr9:32987629 [GRCh37]
Chr9:9p21.1
uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NM_001195248.2(APTX):c.593C>T (p.Ala198Val) single nucleotide variant not provided [RCV001288442] Chr9:32984808 [GRCh38]
Chr9:32984806 [GRCh37]
Chr9:9p21.1
likely pathogenic
NM_001195248.2(APTX):c.336_337del (p.His112fs) microsatellite Ataxia-oculomotor apraxia type 1 [RCV001337093] Chr9:32987690..32987691 [GRCh38]
Chr9:32987688..32987689 [GRCh37]
Chr9:9p21.1
pathogenic
NM_001195248.2(APTX):c.505C>T (p.Gln169Ter) single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001337095] Chr9:32986009 [GRCh38]
Chr9:32986007 [GRCh37]
Chr9:9p21.1
pathogenic
NC_000009.11:g.(?_32399559)_(33541225_?)dup duplication not provided [RCV001324921] Chr9:32399559..33541225 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
NM_001195248.2(APTX):c.1003C>T (p.His335Tyr) single nucleotide variant not provided [RCV001288440] Chr9:32973524 [GRCh38]
Chr9:32973522 [GRCh37]
Chr9:9p21.1
uncertain significance
NM_001195248.2(APTX):c.484-2A>T single nucleotide variant Ataxia-oculomotor apraxia type 1 [RCV001337094] Chr9:32986032 [GRCh38]
Chr9:32986030 [GRCh37]
Chr9:9p21.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15984 AgrOrtholog
COSMIC APTX COSMIC
Ensembl Genes ENSG00000137074 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000311547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369141 UniProtKB/TrEMBL
  ENSP00000369145 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369147 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380357 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000400806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417634 UniProtKB/Swiss-Prot
  ENSP00000417649 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000417684 UniProtKB/TrEMBL
  ENSP00000417750 UniProtKB/TrEMBL
  ENSP00000417804 UniProtKB/TrEMBL
  ENSP00000418069 UniProtKB/Swiss-Prot
  ENSP00000418144 UniProtKB/Swiss-Prot
  ENSP00000418311 UniProtKB/Swiss-Prot
  ENSP00000418733 UniProtKB/Swiss-Prot
  ENSP00000419042 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000419289 UniProtKB/Swiss-Prot
  ENSP00000419430 UniProtKB/Swiss-Prot
  ENSP00000419597 UniProtKB/TrEMBL
  ENSP00000419623 UniProtKB/TrEMBL
  ENSP00000419723 UniProtKB/TrEMBL
  ENSP00000419846 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420071 UniProtKB/Swiss-Prot
  ENSP00000420263 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499872 UniProtKB/Swiss-Prot
  ENSP00000499875 UniProtKB/TrEMBL
  ENSP00000499991 UniProtKB/Swiss-Prot
  ENSP00000499997 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500320 UniProtKB/Swiss-Prot
  ENSP00000500360 UniProtKB/TrEMBL
  ENSP00000500396 UniProtKB/Swiss-Prot
  ENSP00000500601 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500738 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500871 UniProtKB/TrEMBL
  ENSP00000500943 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000309615 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379813 UniProtKB/TrEMBL
  ENST00000379817 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379819 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379825 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397172 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000436040 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000460940 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463596 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000464632 UniProtKB/Swiss-Prot
  ENST00000465003 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000467331 UniProtKB/Swiss-Prot
  ENST00000468275 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000472896 UniProtKB/TrEMBL
  ENST00000474658 UniProtKB/TrEMBL
  ENST00000476858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000477119 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000478279 UniProtKB/TrEMBL
  ENST00000479656 UniProtKB/Swiss-Prot
  ENST00000480031 UniProtKB/TrEMBL
  ENST00000482687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000483148 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000485479 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000494649 UniProtKB/Swiss-Prot
  ENST00000495360 UniProtKB/TrEMBL
  ENST00000671912 UniProtKB/TrEMBL
  ENST00000672152 ENTREZGENE
  ENST00000672244 UniProtKB/TrEMBL
  ENST00000672438 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672519 UniProtKB/Swiss-Prot
  ENST00000672535 UniProtKB/Swiss-Prot
  ENST00000672615 ENTREZGENE
  ENST00000672846 UniProtKB/Swiss-Prot
  ENST00000673211 ENTREZGENE
  ENST00000673248 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000673360 UniProtKB/TrEMBL
  ENST00000673416 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000673487 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000673598 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.428.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137074 GTEx
HGNC ID HGNC:15984 ENTREZGENE
Human Proteome Map APTX Human Proteome Map
InterPro Aprataxin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FHA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FHA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histidine_triad_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf-C2HE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54840 UniProtKB/Swiss-Prot
NCBI Gene 54840 ENTREZGENE
OMIM 208920 OMIM
  606350 OMIM
PANTHER PTHR12486:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FHA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2HE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24915 PharmGKB
PROSITE HIT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54197 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRW7_HUMAN UniProtKB/TrEMBL
  A0A5F9ZGW5_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI51_HUMAN UniProtKB/TrEMBL
  A0A5K1VW64_HUMAN UniProtKB/TrEMBL
  A0A5K1VW80_HUMAN UniProtKB/TrEMBL
  APTX_HUMAN UniProtKB/Swiss-Prot
  C9J8U3_HUMAN UniProtKB/TrEMBL
  F5HRF8_HUMAN UniProtKB/TrEMBL
  F8WBD6_HUMAN UniProtKB/TrEMBL
  F8WBM3_HUMAN UniProtKB/TrEMBL
  Q6JV79_HUMAN UniProtKB/TrEMBL
  Q7Z2E3 ENTREZGENE
UniProt Secondary A8MTN4 UniProtKB/Swiss-Prot
  D3DRK9 UniProtKB/Swiss-Prot
  D3DRL0 UniProtKB/Swiss-Prot
  E7EVB7 UniProtKB/TrEMBL
  Q0P662 UniProtKB/Swiss-Prot
  Q5T781 UniProtKB/Swiss-Prot
  Q5T782 UniProtKB/Swiss-Prot
  Q5T784 UniProtKB/Swiss-Prot
  Q6JV81 UniProtKB/Swiss-Prot
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