EXO1 (exonuclease 1) - Rat Genome Database

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Gene: EXO1 (exonuclease 1) Homo sapiens
Analyze
Symbol: EXO1
Name: exonuclease 1
RGD ID: 1319820
HGNC Page HGNC
Description: Enables DNA binding activity and deoxyribonuclease activity. Involved in DNA recombination and mismatch repair. Located in nuclear body and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: exonuclease I; HEX1; hExo1; hExoI; rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1
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 Ensembl1241,847,967 - 241,895,148 (+)EnsemblGRCh38hg38GRCh38
GRCh381241,847,967 - 241,889,939 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371242,011,506 - 242,053,241 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361240,078,158 - 240,119,671 (+)NCBINCBI36hg18NCBI36
Build 341238,337,575 - 238,379,088NCBI
Celera1215,267,055 - 215,308,778 (+)NCBI
Cytogenetic Map1q43NCBI
HuRef1212,470,280 - 212,512,011 (+)NCBIHuRef
CHM1_11243,284,062 - 243,325,806 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(-)-demecolcine  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2-methylcholine  (EXP)
3-methylcholanthrene  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
alpha-pinene  (EXP)
amiodarone  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
barium sulfate  (ISO)
belinostat  (ISO)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
ceric oxide  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diallyl disulfide  (ISO)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
dioxygen  (EXP)
doxorubicin  (ISO)
endosulfan  (EXP)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
flumequine  (ISO)
folic acid  (ISO)
furan  (ISO)
glyphosate  (EXP)
idarubicin  (ISO)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lucanthone  (EXP)
MeIQx  (ISO)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
palbociclib  (EXP)
paracetamol  (EXP)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (EXP,ISO)
phosphoramide mustard  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
succimer  (ISO)
tebufenpyrad  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)
plasma membrane  (IDA)

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:2414623   PMID:8889548   PMID:9685493   PMID:9788596   PMID:9823303   PMID:10364235   PMID:10608837   PMID:10856833   PMID:11375940   PMID:11427529   PMID:11429708   PMID:11809771  
PMID:11842105   PMID:12414623   PMID:12477932   PMID:12517792   PMID:12704184   PMID:14623461   PMID:14636568   PMID:14676842   PMID:14756672   PMID:15146197   PMID:15225546   PMID:15302935  
PMID:15328369   PMID:15489334   PMID:15550454   PMID:15886194   PMID:16143102   PMID:16195237   PMID:16344560   PMID:16710414   PMID:17148452   PMID:17426132   PMID:17656264   PMID:17855454  
PMID:18048416   PMID:18079015   PMID:18205772   PMID:18270339   PMID:18559551   PMID:18676680   PMID:18940926   PMID:18971343   PMID:19012493   PMID:19015241   PMID:19064572   PMID:19074885  
PMID:19170196   PMID:19331228   PMID:19515603   PMID:19625176   PMID:19626040   PMID:19692168   PMID:19698732   PMID:19846925   PMID:20019063   PMID:20126648   PMID:20337148   PMID:20379614  
PMID:20429728   PMID:20447876   PMID:20453000   PMID:20643645   PMID:20854105   PMID:21052091   PMID:21325134   PMID:21496642   PMID:21533173   PMID:21808022   PMID:21862834   PMID:21873635  
PMID:22146767   PMID:22179609   PMID:22205538   PMID:22222486   PMID:22230721   PMID:22267201   PMID:22296401   PMID:22326273   PMID:22987153   PMID:23754438   PMID:23835406   PMID:24204293  
PMID:24255178   PMID:24705021   PMID:24761866   PMID:24824601   PMID:24829445   PMID:25294706   PMID:25598504   PMID:25833945   PMID:26083678   PMID:26182368   PMID:26186194   PMID:26215063  
PMID:26221031   PMID:26496610   PMID:26646562   PMID:26774993   PMID:26807646   PMID:26972000   PMID:27098497   PMID:27387683   PMID:27494243   PMID:27894089   PMID:27918544   PMID:27974460  
PMID:28514442   PMID:28515316   PMID:28682061   PMID:29117863   PMID:29551515   PMID:30021884   PMID:30061603   PMID:30328366   PMID:30352932   PMID:30804502   PMID:30880589   PMID:30928815  
PMID:31053472   PMID:31056253   PMID:31153714   PMID:31182486   PMID:31562368   PMID:32167078   PMID:32232411   PMID:32509391   PMID:32772095   PMID:32814904   PMID:32926959   PMID:32966758  
PMID:33087266  


Genomics

Comparative Map Data
EXO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1241,847,967 - 241,895,148 (+)EnsemblGRCh38hg38GRCh38
GRCh381241,847,967 - 241,889,939 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371242,011,506 - 242,053,241 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361240,078,158 - 240,119,671 (+)NCBINCBI36hg18NCBI36
Build 341238,337,575 - 238,379,088NCBI
Celera1215,267,055 - 215,308,778 (+)NCBI
Cytogenetic Map1q43NCBI
HuRef1212,470,280 - 212,512,011 (+)NCBIHuRef
CHM1_11243,284,062 - 243,325,806 (+)NCBICHM1_1
Exo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,708,334 - 175,738,962 (+)NCBIGRCm39mm39
GRCm39 Ensembl1175,708,147 - 175,741,055 (+)Ensembl
GRCm381175,880,768 - 175,911,396 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,880,581 - 175,913,489 (+)EnsemblGRCm38mm10GRCm38
MGSCv371177,810,909 - 177,841,527 (+)NCBIGRCm37mm9NCBIm37
MGSCv361177,717,473 - 177,745,968 (+)NCBImm8
Celera1182,960,192 - 182,991,063 (+)NCBICelera
Cytogenetic Map1H4NCBI
cM Map181.9NCBI
Exo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21387,809,725 - 87,834,654 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1387,809,810 - 87,834,654 (+)Ensembl
Rnor_6.01393,936,989 - 93,962,749 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1393,939,022 - 93,960,342 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01398,401,025 - 98,427,400 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41391,619,024 - 91,644,366 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11391,809,937 - 91,831,012 (+)NCBI
Celera1387,401,444 - 87,426,359 (+)NCBICelera
Cytogenetic Map13q25NCBI
Exo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540610,245,886 - 10,275,522 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540610,248,981 - 10,276,207 (-)NCBIChiLan1.0ChiLan1.0
EXO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11222,389,684 - 222,431,556 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,389,684 - 222,431,556 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01217,410,175 - 217,451,982 (+)NCBIMhudiblu_PPA_v0panPan3
EXO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1733,237,124 - 33,268,835 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl733,237,593 - 33,268,254 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha732,715,899 - 32,747,606 (+)NCBI
ROS_Cfam_1.0733,063,694 - 33,095,420 (+)NCBI
UMICH_Zoey_3.1732,898,615 - 32,930,322 (+)NCBI
UNSW_CanFamBas_1.0732,921,322 - 32,953,099 (+)NCBI
UU_Cfam_GSD_1.0733,172,357 - 33,204,106 (+)NCBI
Exo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934446,119,726 - 46,144,065 (+)NCBI
SpeTri2.0NW_0049365268,570,488 - 8,627,004 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1015,317,581 - 15,359,839 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11015,317,555 - 15,360,593 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21017,632,191 - 17,673,665 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EXO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12578,934,337 - 78,976,346 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2578,934,459 - 78,976,219 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605581,071,662 - 81,113,887 (+)NCBIVero_WHO_p1.0
Exo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477112,215,957 - 12,230,908 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
AL010043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,052,787 - 242,052,915UniSTSGRCh37
Build 361240,119,410 - 240,119,538RGDNCBI36
Celera1215,308,324 - 215,308,452RGD
Cytogenetic Map1q42-q43UniSTS
HuRef1212,511,557 - 212,511,685UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1419
Count of miRNA genes:664
Interacting mature miRNAs:737
Transcripts:ENST00000348581, ENST00000366548, ENST00000423131, ENST00000437497, ENST00000450748, ENST00000469419, ENST00000493702, ENST00000518483, ENST00000518741, ENST00000519225, ENST00000521202, ENST00000523590
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 141 11 41 35 625 38 275 53 96 66 233 249 9 2
Low 563 274 242 186 672 136 910 32 106 133 586 343 52 125 464 2
Below cutoff 1653 2558 1396 377 639 269 2955 1801 3390 211 622 1013 108 1064 2114 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF042282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF549168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM465399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM983504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA430743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD644038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN348533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA479425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA661516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000348581   ⟹   ENSP00000311873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,731 - 241,889,937 (+)Ensembl
RefSeq Acc Id: ENST00000366548   ⟹   ENSP00000355506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,204 - 241,889,939 (+)Ensembl
RefSeq Acc Id: ENST00000423131   ⟹   ENSP00000415531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,225 - 241,858,589 (+)Ensembl
RefSeq Acc Id: ENST00000437497   ⟹   ENSP00000412041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,950 - 241,858,589 (+)Ensembl
RefSeq Acc Id: ENST00000450748   ⟹   ENSP00000406652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,951 - 241,853,481 (+)Ensembl
RefSeq Acc Id: ENST00000469419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,850,492 - 241,860,704 (+)Ensembl
RefSeq Acc Id: ENST00000493702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,983 - 241,858,718 (+)Ensembl
RefSeq Acc Id: ENST00000518483   ⟹   ENSP00000430251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,831 - 241,889,746 (+)Ensembl
RefSeq Acc Id: ENST00000518741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,885,357 - 241,895,148 (+)Ensembl
RefSeq Acc Id: ENST00000519225   ⟹   ENSP00000429720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,847,967 - 241,850,460 (+)Ensembl
RefSeq Acc Id: ENST00000521202   ⟹   ENSP00000428326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,879,040 - 241,889,594 (+)Ensembl
RefSeq Acc Id: ENST00000523590   ⟹   ENSP00000430082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,848,251 - 241,853,481 (+)Ensembl
RefSeq Acc Id: NM_001319224   ⟹   NP_001306153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
CHM1_11243,284,062 - 243,325,806 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003686   ⟹   NP_003677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,731 - 241,889,939 (+)NCBI
GRCh371242,011,491 - 242,053,241 (+)NCBI
Build 361240,078,158 - 240,119,671 (+)NCBI Archive
HuRef1212,470,280 - 212,512,011 (+)ENTREZGENE
CHM1_11243,284,599 - 243,325,806 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006027   ⟹   NP_006018
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,731 - 241,889,939 (+)NCBI
GRCh371242,011,491 - 242,053,241 (+)NCBI
Build 361240,078,158 - 240,119,671 (+)NCBI Archive
HuRef1212,470,280 - 212,512,011 (+)ENTREZGENE
CHM1_11243,284,599 - 243,325,806 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130398   ⟹   NP_569082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
GRCh371242,011,491 - 242,053,241 (+)NCBI
Build 361240,078,158 - 240,119,671 (+)NCBI Archive
HuRef1212,470,280 - 212,512,011 (+)ENTREZGENE
CHM1_11243,284,062 - 243,325,806 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711840   ⟹   XP_006711903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,191 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544321   ⟹   XP_011542623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,191 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544322   ⟹   XP_011542624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,967 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544323   ⟹   XP_011542625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,191 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544324   ⟹   XP_011542626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,191 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544325   ⟹   XP_011542627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,861,415 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002793   ⟹   XP_016858282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,191 - 241,889,939 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_569082   ⟸   NM_130398
- Peptide Label: isoform b
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006018   ⟸   NM_006027
- Peptide Label: isoform b
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003677   ⟸   NM_003686
- Peptide Label: isoform a
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006711903   ⟸   XM_006711840
- Peptide Label: isoform X1
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542624   ⟸   XM_011544322
- Peptide Label: isoform X1
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542623   ⟸   XM_011544321
- Peptide Label: isoform X1
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542625   ⟸   XM_011544323
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011542626   ⟸   XM_011544324
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542627   ⟸   XM_011544325
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001306153   ⟸   NM_001319224
- Peptide Label: isoform c
- UniProtKB: A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858282   ⟸   XM_017002793
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000415531   ⟸   ENST00000423131
RefSeq Acc Id: ENSP00000406652   ⟸   ENST00000450748
RefSeq Acc Id: ENSP00000430251   ⟸   ENST00000518483
RefSeq Acc Id: ENSP00000311873   ⟸   ENST00000348581
RefSeq Acc Id: ENSP00000429720   ⟸   ENST00000519225
RefSeq Acc Id: ENSP00000428326   ⟸   ENST00000521202
RefSeq Acc Id: ENSP00000430082   ⟸   ENST00000523590
RefSeq Acc Id: ENSP00000355506   ⟸   ENST00000366548
RefSeq Acc Id: ENSP00000412041   ⟸   ENST00000437497
Protein Domains
XPGI   XPGN

Promoters
RGD ID:6785350
Promoter ID:HG_KWN:8068
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:ENST00000366547,   ENST00000391848,   NM_003686,   NM_006027,   OTTHUMT00000096405,   OTTHUMT00000096406,   OTTHUMT00000096407,   OTTHUMT00000096408,   OTTHUMT00000096409,   OTTHUMT00000096411,   UC001HZI.1,   UC009XGQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361240,077,819 - 240,078,319 (+)MPROMDB
RGD ID:6859402
Promoter ID:EPDNEW_H2866
Type:initiation region
Name:EXO1_3
Description:exonuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2867  EPDNEW_H2868  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,848,046EPDNEW
RGD ID:6859404
Promoter ID:EPDNEW_H2867
Type:initiation region
Name:EXO1_1
Description:exonuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2866  EPDNEW_H2868  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,848,264EPDNEW
RGD ID:6859406
Promoter ID:EPDNEW_H2868
Type:initiation region
Name:EXO1_2
Description:exonuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2866  EPDNEW_H2867  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,767 - 241,848,827EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_130398.3(EXO1):c.1041+1414G>C single nucleotide variant Lung cancer [RCV000090704] Chr1:241862916 [GRCh38]
Chr1:242026218 [GRCh37]
Chr1:1q43
uncertain significance
NM_130398.3(EXO1):c.2110-336G>T single nucleotide variant Lung cancer [RCV000090705] Chr1:241881580 [GRCh38]
Chr1:242044882 [GRCh37]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 copy number gain See cases [RCV000051588] Chr1:240553438..242475553 [GRCh38]
Chr1:240716738..242638855 [GRCh37]
Chr1:238783361..240705478 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1 copy number loss See cases [RCV000054027] Chr1:241676908..245647727 [GRCh38]
Chr1:241840210..245811029 [GRCh37]
Chr1:239906833..243877652 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 copy number gain See cases [RCV000136503] Chr1:241625115..245453782 [GRCh38]
Chr1:241788417..245617084 [GRCh37]
Chr1:239855040..243683707 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q43(chr1:241820063-242545979)x1 copy number loss See cases [RCV000143732] Chr1:241820063..242545979 [GRCh38]
Chr1:241983365..242709281 [GRCh37]
Chr1:240049988..240775904 [NCBI36]
Chr1:1q43
uncertain significance
NM_130398.4(EXO1):c.820G>A (p.Gly274Arg) single nucleotide variant Hereditary breast and ovarian cancer syndrome [RCV001374518]|not provided [RCV001573635] Chr1:241860580 [GRCh38]
Chr1:242023882 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43(chr1:241913757-242162125)x3 copy number gain See cases [RCV000447380] Chr1:241913757..242162125 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44
pathogenic
NM_130398.4(EXO1):c.2276G>A (p.Gly759Glu) single nucleotide variant not provided [RCV000973115]|not specified [RCV000501305] Chr1:241885378 [GRCh38]
Chr1:242048680 [GRCh37]
Chr1:1q43
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_130398.4(EXO1):c.136del (p.Lys45_Leu46insTer) deletion not provided [RCV000658555] Chr1:241850561 [GRCh38]
Chr1:242013863 [GRCh37]
Chr1:1q43
likely pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 copy number gain not provided [RCV000684715] Chr1:240958055..243698867 [GRCh37]
Chr1:1q43
likely pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43(chr1:241873443-242196967)x3 copy number gain not provided [RCV000684717] Chr1:241873443..242196967 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44
pathogenic
NM_130398.4(EXO1):c.896A>G (p.Asn299Ser) single nucleotide variant not provided [RCV000905494] Chr1:241860656 [GRCh38]
Chr1:242023958 [GRCh37]
Chr1:1q43
benign
NM_130398.4(EXO1):c.2212-1G>C single nucleotide variant not provided [RCV000879926] Chr1:241885313 [GRCh38]
Chr1:242048615 [GRCh37]
Chr1:1q43
likely benign|conflicting interpretations of pathogenicity
NM_130398.4(EXO1):c.339G>A (p.Ser113=) single nucleotide variant not provided [RCV000922200] Chr1:241853415 [GRCh38]
Chr1:242016717 [GRCh37]
Chr1:1q43
likely benign
NM_130398.4(EXO1):c.226G>A (p.Val76Ile) single nucleotide variant not provided [RCV000966792] Chr1:241852356 [GRCh38]
Chr1:242015658 [GRCh37]
Chr1:1q43
benign
NM_130398.4(EXO1):c.162-3T>C single nucleotide variant not provided [RCV000946578] Chr1:241852289 [GRCh38]
Chr1:242015591 [GRCh37]
Chr1:1q43
benign
NM_130398.4(EXO1):c.99C>T (p.Cys33=) single nucleotide variant not provided [RCV000946577] Chr1:241850524 [GRCh38]
Chr1:242013826 [GRCh37]
Chr1:1q43
benign
NC_000001.10:g.(?_241661128)_(242034263_?)dup duplication Fumarase deficiency [RCV001033301] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_241661128)_(242034263_?)del deletion Fumarase deficiency [RCV001032378] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q43(chr1:241106058-242088336)x3 copy number gain not provided [RCV000847311] Chr1:241106058..242088336 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43
pathogenic
NM_130398.4(EXO1):c.277A>G (p.Arg93Gly) single nucleotide variant not provided [RCV000963788] Chr1:241852407 [GRCh38]
Chr1:242015709 [GRCh37]
Chr1:1q43
benign
NM_130398.4(EXO1):c.161+8T>C single nucleotide variant not provided [RCV000934465] Chr1:241850594 [GRCh38]
Chr1:242013896 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q43(chr1:241873443-242196967)x4 copy number gain not provided [RCV001005201] Chr1:241873443..242196967 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NM_130398.4(EXO1):c.325G>A (p.Glu109Lys) single nucleotide variant not provided [RCV001572684] Chr1:241853401 [GRCh38]
Chr1:242016703 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NC_000001.10:g.(?_241661108)_(242431558_?)del deletion Fumarase deficiency [RCV001032255] Chr1:241661108..242431558 [GRCh37]
Chr1:1q43
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3511 AgrOrtholog
COSMIC EXO1 COSMIC
Ensembl Genes ENSG00000174371 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000311873 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355506 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406652 UniProtKB/TrEMBL
  ENSP00000412041 UniProtKB/TrEMBL
  ENSP00000415531 UniProtKB/TrEMBL
  ENSP00000428326 UniProtKB/TrEMBL
  ENSP00000429720 UniProtKB/TrEMBL
  ENSP00000430082 UniProtKB/TrEMBL
  ENSP00000430251 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000348581 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000366548 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423131 UniProtKB/TrEMBL
  ENST00000437497 UniProtKB/TrEMBL
  ENST00000450748 UniProtKB/TrEMBL
  ENST00000518483 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519225 UniProtKB/TrEMBL
  ENST00000521202 UniProtKB/TrEMBL
  ENST00000523590 UniProtKB/TrEMBL
GTEx ENSG00000174371 GTEx
HGNC ID HGNC:3511 ENTREZGENE
Human Proteome Map EXO1 Human Proteome Map
InterPro 5-3_exonuclease_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Exo1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EXO1_H3TH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HhH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPG-I_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPG/Rad2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPG_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPG_DNA_repair_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9156 UniProtKB/Swiss-Prot
NCBI Gene 9156 ENTREZGENE
OMIM 606063 OMIM
PANTHER PTHR11081 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11081:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam XPG_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPG_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27923 PharmGKB
PRINTS XPGRADSUPER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE XPG_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPG_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HhH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPGI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPGN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47807 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF88723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3V2_HUMAN UniProtKB/TrEMBL
  A8K5H6 ENTREZGENE, UniProtKB/TrEMBL
  E5RGY3_HUMAN UniProtKB/TrEMBL
  E5RHK1_HUMAN UniProtKB/TrEMBL
  EXO1_HUMAN UniProtKB/Swiss-Prot
  H0YAZ2_HUMAN UniProtKB/TrEMBL
  Q5T397_HUMAN UniProtKB/TrEMBL
  Q5T398_HUMAN UniProtKB/TrEMBL
  Q5T399_HUMAN UniProtKB/TrEMBL
  Q9UQ84 ENTREZGENE
UniProt Secondary O60545 UniProtKB/Swiss-Prot
  O75214 UniProtKB/Swiss-Prot
  O75466 UniProtKB/Swiss-Prot
  Q5T396 UniProtKB/Swiss-Prot
  Q96IJ1 UniProtKB/Swiss-Prot
  Q9UG38 UniProtKB/Swiss-Prot
  Q9UNW0 UniProtKB/Swiss-Prot