APEX2 (apurinic/apyrimidinic endodeoxyribonuclease 2) - Rat Genome Database

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Gene: APEX2 (apurinic/apyrimidinic endodeoxyribonuclease 2) Homo sapiens
Analyze
Symbol: APEX2
Name: apurinic/apyrimidinic endodeoxyribonuclease 2
RGD ID: 1350631
HGNC Page HGNC
Description: Predicted to have DNA-(apurinic or apyrimidinic site) endonuclease activity; double-stranded DNA 3'-5' exodeoxyribonuclease activity; and phosphodiesterase I activity. Predicted to be involved in base-excision repair. Localizes to fibrillar center and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AP endonuclease 2; AP endonuclease XTH2; APE2; APEX nuclease (apurinic/apyrimidinic endonuclease) 2; APEX nuclease 2; APEX nuclease-like 2; APEXL2; apurinic-apyrimidinic endonuclease 2; apurinic/apyrimidinic endonuclease-like 2; DNA-(apurinic or apyrimidinic site) endonuclease 2; DNA-(apurinic or apyrimidinic site) lyase 2; DNA-apurinic or apyrimidinic site lyase 2; XTH2; ZGRF2; zinc finger, GRF-type containing 2
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 EnsemblX55,000,363 - 55,009,057 (+)EnsemblGRCh38hg38GRCh38
GRCh38X55,000,363 - 55,009,057 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,026,796 - 55,035,490 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,043,505 - 55,050,937 (+)NCBINCBI36hg18NCBI36
Build 34X54,909,800 - 54,917,232NCBI
CeleraX58,861,923 - 58,869,355 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,077,699 - 52,085,248 (+)NCBIHuRef
CHM1_1X55,016,795 - 55,024,345 (+)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 Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11376153   PMID:11866537   PMID:12477932   PMID:12650714   PMID:15342556   PMID:15489334   PMID:15772651   PMID:16189514   PMID:16341674   PMID:16687656   PMID:19165527   PMID:19443450  
PMID:19953087   PMID:20522537   PMID:20843780   PMID:21832049   PMID:21873635   PMID:22939629   PMID:25260751   PMID:26496610   PMID:28514442   PMID:29513927   PMID:30021884   PMID:30110897  
PMID:30686591   PMID:30805613   PMID:31343991   PMID:31519755   PMID:31828326   PMID:32111912   PMID:32296183  


Genomics

Comparative Map Data
APEX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX55,000,363 - 55,009,057 (+)EnsemblGRCh38hg38GRCh38
GRCh38X55,000,363 - 55,009,057 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,026,796 - 55,035,490 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,043,505 - 55,050,937 (+)NCBINCBI36hg18NCBI36
Build 34X54,909,800 - 54,917,232NCBI
CeleraX58,861,923 - 58,869,355 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,077,699 - 52,085,248 (+)NCBIHuRef
CHM1_1X55,016,795 - 55,024,345 (+)NCBICHM1_1
Apex2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,286,625 - 149,371,175 (-)NCBIGRCm39mm39
GRCm39 EnsemblX149,302,515 - 149,372,864 (-)Ensembl
GRCm38X150,426,974 - 150,588,206 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,519,519 - 150,589,868 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X147,006,050 - 147,022,692 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X145,912,223 - 145,928,865 (-)NCBImm8
CeleraX133,818,627 - 133,835,339 (+)NCBICelera
Cytogenetic MapXF3NCBI
Apex2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X19,425,684 - 19,508,459 (-)NCBI
Rnor_6.0 EnsemblX23,146,085 - 23,166,675 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X23,146,085 - 23,166,676 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X23,566,192 - 23,586,783 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X39,811,484 - 39,832,225 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX19,761,515 - 19,779,599 (-)NCBICelera
Cytogenetic MapXq13NCBI
Apex2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554752,344,087 - 2,359,906 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554752,343,992 - 2,359,492 (+)NCBIChiLan1.0ChiLan1.0
APEX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X55,442,599 - 55,450,402 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX55,442,599 - 55,450,402 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X47,210,552 - 47,218,320 (+)NCBIMhudiblu_PPA_v0panPan3
APEX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X46,692,667 - 46,703,309 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX46,693,191 - 46,702,195 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX38,028,054 - 38,038,942 (+)NCBI
ROS_Cfam_1.0X46,981,068 - 46,991,960 (+)NCBI
UMICH_Zoey_3.1X46,490,847 - 46,501,736 (+)NCBI
UNSW_CanFamBas_1.0X46,957,419 - 46,968,304 (+)NCBI
UU_Cfam_GSD_1.0X46,899,682 - 46,910,572 (+)NCBI
Apex2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,468,146 - 39,477,569 (+)NCBI
SpeTri2.0NW_0049367511,807,867 - 1,817,780 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APEX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX47,862,667 - 47,885,840 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X47,862,682 - 47,870,579 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X53,798,823 - 53,806,723 (+)NCBISscrofa10.2Sscrofa10.2susScr3
APEX2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X51,077,496 - 51,084,787 (+)NCBI
ChlSab1.1 EnsemblX51,077,025 - 51,084,783 (+)Ensembl
Apex2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624910382,144 - 398,151 (+)NCBI

Position Markers
APEX2_705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,033,480 - 55,034,257UniSTSGRCh37
Build 36X55,050,205 - 55,050,982RGDNCBI36
CeleraX58,868,623 - 58,869,400RGD
HuRefX52,084,422 - 52,085,199UniSTS
MARC_5951-5952:997299472:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,028,028 - 55,028,788UniSTSGRCh37
Build 36X55,044,753 - 55,045,513RGDNCBI36
CeleraX58,863,171 - 58,863,931RGD
HuRefX52,078,971 - 52,079,731UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2019
Count of miRNA genes:1045
Interacting mature miRNAs:1243
Transcripts:ENST00000374987, ENST00000471758
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1470 1464 1353 289 1308 203 3515 636 1051 349 1215 1516 101 995 2023 5
Low 968 1525 373 335 641 262 841 1561 2683 70 245 97 74 1 209 765 1 2
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB021260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB049211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL020991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY884244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI837686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM795632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP363514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374987   ⟹   ENSP00000364126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,000,363 - 55,009,057 (+)Ensembl
RefSeq Acc Id: ENST00000471758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,000,393 - 55,006,757 (+)Ensembl
RefSeq Acc Id: NM_001271748   ⟹   NP_001258677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,000,363 - 55,009,057 (+)NCBI
GRCh37X55,026,756 - 55,034,306 (+)NCBI
HuRefX52,077,699 - 52,085,248 (+)NCBI
CHM1_1X55,016,795 - 55,024,345 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014481   ⟹   NP_055296
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,000,363 - 55,009,057 (+)NCBI
GRCh37X55,026,756 - 55,034,306 (+)NCBI
Build 36X55,043,505 - 55,050,937 (+)NCBI Archive
CeleraX58,861,923 - 58,869,355 (+)RGD
HuRefX52,077,699 - 52,085,248 (+)NCBI
CHM1_1X55,016,795 - 55,024,345 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001258677 (Get FASTA)   NCBI Sequence Viewer  
  NP_055296 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD43041 (Get FASTA)   NCBI Sequence Viewer  
  AAH02959 (Get FASTA)   NCBI Sequence Viewer  
  AAW56941 (Get FASTA)   NCBI Sequence Viewer  
  ADP90654 (Get FASTA)   NCBI Sequence Viewer  
  ADP90655 (Get FASTA)   NCBI Sequence Viewer  
  ADP90656 (Get FASTA)   NCBI Sequence Viewer  
  ADP90657 (Get FASTA)   NCBI Sequence Viewer  
  ADP90658 (Get FASTA)   NCBI Sequence Viewer  
  ADP90659 (Get FASTA)   NCBI Sequence Viewer  
  ADP90660 (Get FASTA)   NCBI Sequence Viewer  
  ADP90661 (Get FASTA)   NCBI Sequence Viewer  
  ADP90662 (Get FASTA)   NCBI Sequence Viewer  
  ADP90663 (Get FASTA)   NCBI Sequence Viewer  
  ADP90664 (Get FASTA)   NCBI Sequence Viewer  
  ADP90665 (Get FASTA)   NCBI Sequence Viewer  
  ADP90666 (Get FASTA)   NCBI Sequence Viewer  
  ADP90667 (Get FASTA)   NCBI Sequence Viewer  
  ADP90668 (Get FASTA)   NCBI Sequence Viewer  
  ADP90669 (Get FASTA)   NCBI Sequence Viewer  
  ADP90670 (Get FASTA)   NCBI Sequence Viewer  
  ADP90671 (Get FASTA)   NCBI Sequence Viewer  
  ADP90672 (Get FASTA)   NCBI Sequence Viewer  
  ADP90673 (Get FASTA)   NCBI Sequence Viewer  
  ADP90674 (Get FASTA)   NCBI Sequence Viewer  
  ADP90675 (Get FASTA)   NCBI Sequence Viewer  
  ADP90676 (Get FASTA)   NCBI Sequence Viewer  
  ADP90677 (Get FASTA)   NCBI Sequence Viewer  
  ADP90678 (Get FASTA)   NCBI Sequence Viewer  
  ADP90679 (Get FASTA)   NCBI Sequence Viewer  
  ADP90680 (Get FASTA)   NCBI Sequence Viewer  
  ADP90681 (Get FASTA)   NCBI Sequence Viewer  
  ADP90682 (Get FASTA)   NCBI Sequence Viewer  
  ADP90683 (Get FASTA)   NCBI Sequence Viewer  
  ADP90684 (Get FASTA)   NCBI Sequence Viewer  
  ADP90685 (Get FASTA)   NCBI Sequence Viewer  
  ADP90686 (Get FASTA)   NCBI Sequence Viewer  
  ADP90687 (Get FASTA)   NCBI Sequence Viewer  
  ADP90688 (Get FASTA)   NCBI Sequence Viewer  
  ADP90689 (Get FASTA)   NCBI Sequence Viewer  
  ADP90690 (Get FASTA)   NCBI Sequence Viewer  
  ADP90691 (Get FASTA)   NCBI Sequence Viewer  
  ADP90692 (Get FASTA)   NCBI Sequence Viewer  
  ADP90693 (Get FASTA)   NCBI Sequence Viewer  
  BAA78422 (Get FASTA)   NCBI Sequence Viewer  
  BAB13764 (Get FASTA)   NCBI Sequence Viewer  
  BAG63051 (Get FASTA)   NCBI Sequence Viewer  
  BAH14557 (Get FASTA)   NCBI Sequence Viewer  
  CAB45242 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43440 (Get FASTA)   NCBI Sequence Viewer  
  EAW93208 (Get FASTA)   NCBI Sequence Viewer  
  EAW93209 (Get FASTA)   NCBI Sequence Viewer  
  EAW93210 (Get FASTA)   NCBI Sequence Viewer  
  Q9UBZ4 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055296   ⟸   NM_014481
- Peptide Label: isoform 1
- UniProtKB: Q9UBZ4 (UniProtKB/Swiss-Prot),   E5KN95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258677   ⟸   NM_001271748
- Peptide Label: isoform 2
- UniProtKB: B4DWI9 (UniProtKB/TrEMBL),   B7ZA71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000364126   ⟸   ENST00000374987
Promoters
RGD ID:13605424
Promoter ID:EPDNEW_H28895
Type:initiation region
Name:APEX2_2
Description:apurinic/apyrimidinic endodeoxyribonuclease 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28896  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,000,016 - 55,000,076EPDNEW
RGD ID:13605422
Promoter ID:EPDNEW_H28896
Type:initiation region
Name:APEX2_1
Description:apurinic/apyrimidinic endodeoxyribonuclease 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28895  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,000,363 - 55,000,423EPDNEW
RGD ID:6808483
Promoter ID:HG_KWN:66982
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:OTTHUMT00000056845,   OTTHUMT00000056846
Position:
Human AssemblyChrPosition (strand)Source
Build 36X55,043,171 - 55,043,671 (+)MPROMDB
RGD ID:6852362
Promoter ID:EP73988
Type:initiation region
Name:HS_APEX2
Description:APEX nuclease (apurinic/apyrimidinic endonuclease) 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X55,043,534 - 55,043,594EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_014481.4(APEX2):c.421C>T (p.Arg141Cys) single nucleotide variant not provided [RCV000882420] ChrX:55002430 [GRCh38]
ChrX:55028863 [GRCh37]
ChrX:Xp11.21
likely benign
NM_014481.4(APEX2):c.177C>T (p.Pro59=) single nucleotide variant not provided [RCV000891871] ChrX:55001565 [GRCh38]
ChrX:55027998 [GRCh37]
ChrX:Xp11.21
benign
NM_014481.4(APEX2):c.927A>G (p.Ala309=) single nucleotide variant not provided [RCV000964098] ChrX:55006805 [GRCh38]
ChrX:55033238 [GRCh37]
ChrX:Xp11.21
benign
NM_014481.4(APEX2):c.1119A>G (p.Gln373=) single nucleotide variant not provided [RCV000840885] ChrX:55006997 [GRCh38]
ChrX:55033430 [GRCh37]
ChrX:Xp11.21
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_014481.4(APEX2):c.249C>T (p.Ala83=) single nucleotide variant not provided [RCV000892726] ChrX:55002258 [GRCh38]
ChrX:55028691 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000032.5(ALAS2):c.*124C>T single nucleotide variant Anemia, sideroblastic, 1 [RCV001167174] ChrX:55009056 [GRCh38]
ChrX:55035489 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17889 AgrOrtholog
COSMIC APEX2 COSMIC
Ensembl Genes ENSG00000169188 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000364126 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374987 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.60.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169188 GTEx
HGNC ID HGNC:17889 ENTREZGENE
Human Proteome Map APEX2 Human Proteome Map
InterPro AP_endonuc_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AP_endonuclease_F1_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endo/exonu/phosph_ase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endo/exonuclease/phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_GRF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27301 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27301 ENTREZGENE
OMIM 300773 OMIM
PANTHER PTHR22748 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Exo_endo_phos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-GRF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38474 PharmGKB
PROSITE AP_NUCLEASE_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AP_NUCLEASE_F1_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56219 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs xth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt APEX2_HUMAN UniProtKB/Swiss-Prot
  B4DWI9 ENTREZGENE, UniProtKB/TrEMBL
  B7ZA71 ENTREZGENE, UniProtKB/TrEMBL
  E5KN95 ENTREZGENE, UniProtKB/TrEMBL
  L8E820_HUMAN UniProtKB/TrEMBL
  Q9UBZ4 ENTREZGENE
UniProt Secondary Q9Y5X7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 APEX2  apurinic/apyrimidinic endodeoxyribonuclease 2    APEX nuclease (apurinic/apyrimidinic endonuclease) 2  Symbol and/or name change 5135510 APPROVED
2011-09-01 APEX2  APEX nuclease (apurinic/apyrimidinic endonuclease) 2  APEX2  APEX nuclease (apurinic/apyrimidinic endonuclease) 2  Symbol and/or name change 5135510 APPROVED