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:3511
Description: Enables DNA binding activity and DNA nuclease activity. Involved in DNA recombination; DNA strand resection involved in replication fork processing; and mismatch repair. Located in nuclear body and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,847,986 - 241,889,939 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,847,967 - 241,895,148 (+)EnsemblGRCh38hg38GRCh38
GRCh371242,011,506 - 242,053,241 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361240,078,158 - 240,119,671 (+)NCBINCBI36Build 36hg18NCBI36
Build 341238,337,575 - 238,379,088NCBI
Celera1215,267,055 - 215,308,778 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,470,280 - 212,512,011 (+)NCBIHuRef
CHM1_11243,284,062 - 243,325,806 (+)NCBICHM1_1
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBIT2T-CHM13v2.0
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,ISO)
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)
2-palmitoylglycerol  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (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)
beta-lapachone  (EXP)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
ceric oxide  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
desferrioxamine B  (EXP)
diallyl disulfide  (ISO)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
dioxygen  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (EXP)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
flumequine  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
glyphosate  (EXP)
idarubicin  (ISO)
kenpaullone  (ISO)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lead(0)  (EXP)
lucanthone  (EXP)
MeIQx  (ISO)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
palbociclib  (EXP)
paracetamol  (EXP)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic 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,ISO)
sodium dichromate  (ISO)
succimer  (ISO)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thiram  (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

References - curated
# Reference Title Reference Citation
1. Regulation of homologous recombination in eukaryotes. Heyer WD, etal., Annu Rev Genet. 2010;44:113-39. doi: 10.1146/annurev-genet-051710-150955.
2. The Rat Genome Database curation tool suite: a set of optimized software tools enabling efficient acquisition, organization, and presentation of biological data. Laulederkind SJ, etal., Database (Oxford). 2011 Feb 14;2011:bar002. Print 2011.
3. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
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:20970388   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:26240375   PMID:26496610   PMID:26646562   PMID:26774993   PMID:26807646   PMID:26972000   PMID:27098497   PMID:27387683   PMID:27494243   PMID:27894089  
PMID:27918544   PMID:27974460   PMID:28216226   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   PMID:33637726   PMID:33729478   PMID:33961781   PMID:34228493   PMID:34552057   PMID:35169964   PMID:35271311   PMID:35767882  
PMID:35915203   PMID:36277983   PMID:36693839   PMID:36735534   PMID:36931259   PMID:36971680   PMID:37140056   PMID:37227155   PMID:37317656   PMID:38126949   PMID:38266640   PMID:38279172  
PMID:38721777   PMID:39121215  


Genomics

Comparative Map Data
EXO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,847,986 - 241,889,939 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,847,967 - 241,895,148 (+)EnsemblGRCh38hg38GRCh38
GRCh371242,011,506 - 242,053,241 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361240,078,158 - 240,119,671 (+)NCBINCBI36Build 36hg18NCBI36
Build 341238,337,575 - 238,379,088NCBI
Celera1215,267,055 - 215,308,778 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,470,280 - 212,512,011 (+)NCBIHuRef
CHM1_11243,284,062 - 243,325,806 (+)NCBICHM1_1
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBIT2T-CHM13v2.0
Exo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,708,334 - 175,738,962 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1175,708,147 - 175,741,055 (+)EnsemblGRCm39 Ensembl
GRCm381175,880,768 - 175,911,396 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,880,581 - 175,913,489 (+)EnsemblGRCm38mm10GRCm38
MGSCv371177,810,909 - 177,841,527 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,717,473 - 177,745,968 (+)NCBIMGSCv36mm8
Celera1182,960,192 - 182,991,063 (+)NCBICelera
Cytogenetic Map1H4NCBI
cM Map181.9NCBI
Exo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81390,341,947 - 90,366,861 (+)NCBIGRCr8
mRatBN7.21387,809,725 - 87,834,654 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1387,809,810 - 87,834,654 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1390,302,568 - 90,327,416 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01391,702,852 - 91,727,700 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01388,880,238 - 88,905,108 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11391,809,937 - 91,831,012 (+)NCBI
Celera1387,401,444 - 87,426,359 (+)NCBICelera
Cytogenetic Map13q24NCBI
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
NHGRI_mPanPan1-v217,257,728 - 7,299,702 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117,480,934 - 7,522,838 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01217,410,175 - 217,451,982 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11222,389,684 - 222,431,556 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,389,684 - 222,431,556 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0733,063,694 - 33,095,420 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl733,064,115 - 33,094,883 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1732,898,615 - 32,930,322 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0732,921,322 - 32,953,099 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0733,172,357 - 33,204,106 (+)NCBIUU_Cfam_GSD_1.0
Exo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934446,119,726 - 46,144,065 (+)NCBIHiC_Itri_2
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 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2578,934,459 - 78,976,219 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605581,071,662 - 81,113,887 (+)NCBIVero_WHO_p1.0Vero_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_1.0HetGla 1.0hetGla2

Variants

.
Variants in EXO1
80 total Variants

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 EXO1-related disorder [RCV003918812]|Hereditary breast ovarian cancer syndrome [RCV001374518]|not provided [RCV001573635] Chr1:241860580 [GRCh38]
Chr1:242023882 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|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 1q43(chr1:240857677-243316822)x3 copy number gain Autism [RCV002284315] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43		 uncertain significance
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 EXO1-related disorder [RCV003925459]|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		 likely benign|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 EXO1-related disorder [RCV003912937]|not provided [RCV000905494] Chr1:241860656 [GRCh38]
Chr1:242023958 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.2212-1G>C single nucleotide variant EXO1-related disorder [RCV003908397]|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 EXO1-related disorder [RCV003928421]|not provided [RCV000966792] Chr1:241852356 [GRCh38]
Chr1:242015658 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.162-3T>C single nucleotide variant EXO1-related disorder [RCV003978148]|not provided [RCV000946578] Chr1:241852289 [GRCh38]
Chr1:242015591 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.99C>T (p.Cys33=) single nucleotide variant EXO1-related disorder [RCV003970663]|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 EXO1-related disorder [RCV003926220]|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
GRCh37/hg19 1q43(chr1:241180373-242090901) copy number gain not specified [RCV002052989] Chr1:241180373..242090901 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241867791-242196967)x3 copy number gain not provided [RCV001827864] Chr1:241867791..242196967 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain not provided [RCV001829254] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV004584128] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance
NC_000001.10:g.(?_241661128)_(244218672_?)del deletion not provided [RCV003114057] Chr1:241661128..244218672 [GRCh37]
Chr1:1q43-44		 uncertain significance
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_130398.4(EXO1):c.1583C>G (p.Thr528Ser) single nucleotide variant not specified [RCV004302841] Chr1:241878817 [GRCh38]
Chr1:242042119 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_130398.4(EXO1):c.1508G>C (p.Arg503Thr) single nucleotide variant not specified [RCV004183823] Chr1:241872272 [GRCh38]
Chr1:242035574 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.632C>T (p.Thr211Met) single nucleotide variant not specified [RCV004217191] Chr1:241858594 [GRCh38]
Chr1:242021896 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.555G>T (p.Lys185Asn) single nucleotide variant not specified [RCV004106260] Chr1:241858517 [GRCh38]
Chr1:242021819 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.742C>T (p.Pro248Ser) single nucleotide variant not specified [RCV004104194] Chr1:241858704 [GRCh38]
Chr1:242022006 [GRCh37]
Chr1:1q43		 uncertain significance
Single allele deletion Developmental and epileptic encephalopathy, 54 [RCV002481171] Chr1:242045197..249212668 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_130398.4(EXO1):c.701G>T (p.Gly234Val) single nucleotide variant not specified [RCV004240073] Chr1:241858663 [GRCh38]
Chr1:242021965 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241094653-242087176)x3 copy number gain not provided [RCV002475661] Chr1:241094653..242087176 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_130398.4(EXO1):c.548T>C (p.Ile183Thr) single nucleotide variant not specified [RCV004106259] Chr1:241858510 [GRCh38]
Chr1:242021812 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1150G>C (p.Val384Leu) single nucleotide variant not specified [RCV004169722] Chr1:241866938 [GRCh38]
Chr1:242030240 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1349A>G (p.Asn450Ser) single nucleotide variant not specified [RCV004109361] Chr1:241872113 [GRCh38]
Chr1:242035415 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1597A>G (p.Lys533Glu) single nucleotide variant not specified [RCV004125383] Chr1:241878831 [GRCh38]
Chr1:242042133 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.494A>G (p.Gln165Arg) single nucleotide variant not specified [RCV004120940] Chr1:241857433 [GRCh38]
Chr1:242020735 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.413G>A (p.Arg138Gln) single nucleotide variant not specified [RCV004214036] Chr1:241857352 [GRCh38]
Chr1:242020654 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1925C>G (p.Ser642Cys) single nucleotide variant not specified [RCV004138036] Chr1:241879159 [GRCh38]
Chr1:242042461 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1669C>T (p.Arg557Cys) single nucleotide variant not specified [RCV004233940] Chr1:241878903 [GRCh38]
Chr1:242042205 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_130398.4(EXO1):c.436G>A (p.Val146Met) single nucleotide variant not specified [RCV004231667] Chr1:241857375 [GRCh38]
Chr1:242020677 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1001C>G (p.Thr334Ser) single nucleotide variant not specified [RCV004124150] Chr1:241861462 [GRCh38]
Chr1:242024764 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.217C>T (p.Pro73Ser) single nucleotide variant not specified [RCV004232628] Chr1:241852347 [GRCh38]
Chr1:242015649 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.73C>A (p.Gln25Lys) single nucleotide variant not specified [RCV004212734] Chr1:241850498 [GRCh38]
Chr1:242013800 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1361G>A (p.Ser454Asn) single nucleotide variant not specified [RCV004182798] Chr1:241872125 [GRCh38]
Chr1:242035427 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1660G>T (p.Asp554Tyr) single nucleotide variant not specified [RCV004124301] Chr1:241878894 [GRCh38]
Chr1:242042196 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1515G>T (p.Arg505Ser) single nucleotide variant not specified [RCV004219554] Chr1:241878749 [GRCh38]
Chr1:242042051 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.2188A>G (p.Lys730Glu) single nucleotide variant not specified [RCV004301365] Chr1:241881994 [GRCh38]
Chr1:242045296 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.2155A>G (p.Thr719Ala) single nucleotide variant not specified [RCV004316370] Chr1:241881961 [GRCh38]
Chr1:242045263 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44		 pathogenic
NM_130398.4(EXO1):c.1115A>G (p.His372Arg) single nucleotide variant not specified [RCV004355378] Chr1:241866903 [GRCh38]
Chr1:242030205 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_130398.4(EXO1):c.458C>T (p.Ala153Val) single nucleotide variant not provided [RCV003456697] Chr1:241857397 [GRCh38]
Chr1:242020699 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241953098-242505759)x1 copy number loss not provided [RCV003484133] Chr1:241953098..242505759 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:242000389-242197555)x1 copy number loss not provided [RCV003484144] Chr1:242000389..242197555 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241815787-242287967)x3 copy number gain not provided [RCV003417176] Chr1:241815787..242287967 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1863G>A (p.Thr621=) single nucleotide variant not provided [RCV003415081] Chr1:241879097 [GRCh38]
Chr1:242042399 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:239786185-242208644)x1 copy number loss not specified [RCV003986406] Chr1:239786185..242208644 [GRCh37]
Chr1:1q43		 pathogenic
NM_130398.4(EXO1):c.570A>G (p.Gly190=) single nucleotide variant EXO1-related disorder [RCV003941618] Chr1:241858532 [GRCh38]
Chr1:242021834 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 copy number gain not specified [RCV003986862] Chr1:238681812..249224684 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_130398.4(EXO1):c.942G>T (p.Gly314=) single nucleotide variant EXO1-related disorder [RCV003967263] Chr1:241860702 [GRCh38]
Chr1:242024004 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1670G>A (p.Arg557His) single nucleotide variant EXO1-related disorder [RCV003951687] Chr1:241878904 [GRCh38]
Chr1:242042206 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1911C>T (p.Ser637=) single nucleotide variant EXO1-related disorder [RCV003904125] Chr1:241879145 [GRCh38]
Chr1:242042447 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1372G>A (p.Val458Met) single nucleotide variant EXO1-related disorder [RCV003976274] Chr1:241872136 [GRCh38]
Chr1:242035438 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.435C>G (p.Leu145=) single nucleotide variant EXO1-related disorder [RCV003971745] Chr1:241857374 [GRCh38]
Chr1:242020676 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1268C>A (p.Ala423Glu) single nucleotide variant EXO1-related disorder [RCV003974141] Chr1:241872032 [GRCh38]
Chr1:242035334 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.2405+10C>T single nucleotide variant EXO1-related disorder [RCV003927308] Chr1:241885517 [GRCh38]
Chr1:242048819 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.2109+9A>C single nucleotide variant EXO1-related disorder [RCV003976854] Chr1:241879352 [GRCh38]
Chr1:242042654 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.546A>G (p.Val182=) single nucleotide variant EXO1-related disorder [RCV003944700] Chr1:241858508 [GRCh38]
Chr1:242021810 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1901G>A (p.Arg634Gln) single nucleotide variant EXO1-related disorder [RCV003961621] Chr1:241879135 [GRCh38]
Chr1:242042437 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.2167C>T (p.Arg723Cys) single nucleotide variant EXO1-related disorder [RCV003982149] Chr1:241881973 [GRCh38]
Chr1:242045275 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.836A>G (p.Asn279Ser) single nucleotide variant EXO1-related disorder [RCV003907317] Chr1:241860596 [GRCh38]
Chr1:242023898 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.2270C>T (p.Pro757Leu) single nucleotide variant EXO1-related disorder [RCV003982454] Chr1:241885372 [GRCh38]
Chr1:242048674 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.1061A>G (p.His354Arg) single nucleotide variant EXO1-related disorder [RCV003982474] Chr1:241866849 [GRCh38]
Chr1:242030151 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.1316C>T (p.Thr439Met) single nucleotide variant EXO1-related disorder [RCV003974379] Chr1:241872080 [GRCh38]
Chr1:242035382 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.1983C>T (p.Asp661=) single nucleotide variant EXO1-related disorder [RCV003926934] Chr1:241879217 [GRCh38]
Chr1:242042519 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1765G>A (p.Glu589Lys) single nucleotide variant EXO1-related disorder [RCV003974580] Chr1:241878999 [GRCh38]
Chr1:242042301 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.1692G>A (p.Pro564=) single nucleotide variant EXO1-related disorder [RCV003959213] Chr1:241878926 [GRCh38]
Chr1:242042228 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1828A>G (p.Ser610Gly) single nucleotide variant EXO1-related disorder [RCV003973999] Chr1:241879062 [GRCh38]
Chr1:242042364 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1364T>C (p.Phe455Ser) single nucleotide variant EXO1-related disorder [RCV003981660] Chr1:241872128 [GRCh38]
Chr1:242035430 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1776A>G (p.Lys592=) single nucleotide variant EXO1-related disorder [RCV003976417] Chr1:241879010 [GRCh38]
Chr1:242042312 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.1918C>G (p.Pro640Ala) single nucleotide variant EXO1-related disorder [RCV003907389] Chr1:241879152 [GRCh38]
Chr1:242042454 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.1378G>C (p.Val460Leu) single nucleotide variant EXO1-related disorder [RCV003979048] Chr1:241872142 [GRCh38]
Chr1:242035444 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.1367C>A (p.Ser456Tyr) single nucleotide variant EXO1-related disorder [RCV003943862] Chr1:241872131 [GRCh38]
Chr1:242035433 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.1918C>T (p.Pro640Ser) single nucleotide variant EXO1-related disorder [RCV003916772] Chr1:241879152 [GRCh38]
Chr1:242042454 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.2009A>G (p.Glu670Gly) single nucleotide variant EXO1-related disorder [RCV003967414] Chr1:241879243 [GRCh38]
Chr1:242042545 [GRCh37]
Chr1:1q43		 benign
NM_130398.4(EXO1):c.745G>A (p.Asp249Asn) single nucleotide variant EXO1-related disorder [RCV003897291] Chr1:241858707 [GRCh38]
Chr1:242022009 [GRCh37]
Chr1:1q43		 likely benign
NM_130398.4(EXO1):c.2483A>C (p.Glu828Ala) single nucleotide variant not specified [RCV004385384] Chr1:241889542 [GRCh38]
Chr1:242052844 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.2255C>T (p.Thr752Ile) single nucleotide variant not specified [RCV004385383] Chr1:241885357 [GRCh38]
Chr1:242048659 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.377C>T (p.Thr126Ile) single nucleotide variant not specified [RCV004385385] Chr1:241853453 [GRCh38]
Chr1:242016755 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1033A>G (p.Thr345Ala) single nucleotide variant not specified [RCV004383397] Chr1:241861494 [GRCh38]
Chr1:242024796 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.721G>C (p.Val241Leu) single nucleotide variant not specified [RCV004385387] Chr1:241858683 [GRCh38]
Chr1:242021985 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.839A>G (p.Asn280Ser) single nucleotide variant not specified [RCV004385388] Chr1:241860599 [GRCh38]
Chr1:242023901 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.119T>C (p.Ile40Thr) single nucleotide variant not specified [RCV004383398] Chr1:241850544 [GRCh38]
Chr1:242013846 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.1595A>G (p.Asp532Gly) single nucleotide variant not specified [RCV004385382] Chr1:241878829 [GRCh38]
Chr1:242042131 [GRCh37]
Chr1:1q43		 uncertain significance
NM_130398.4(EXO1):c.647G>A (p.Arg216His) single nucleotide variant not specified [RCV004385386] Chr1:241858609 [GRCh38]
Chr1:242021911 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)del deletion not provided [RCV004579203] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance
NM_130398.4(EXO1):c.419A>G (p.Gln140Arg) single nucleotide variant not specified [RCV004622877] Chr1:241857358 [GRCh38]
Chr1:242020660 [GRCh37]
Chr1:1q43		 uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406986182GWAS635158_Hmean corpuscular hemoglobin concentration QTL GWAS635158 (human)3e-14mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)1241870961241870962Human
407054087GWAS703063_Hkeratinocyte carcinoma QTL GWAS703063 (human)2e-09keratinocyte carcinoma1241860596241860597Human
407325889GWAS974865_Halpha fetoprotein measurement QTL GWAS974865 (human)1e-09blood alpha-fetoprotein amount (VT:0010776)1241864061241864062Human
407362177GWAS1011153_Hbasal cell carcinoma QTL GWAS1011153 (human)4e-09basal cell carcinoma1241860596241860597Human
406994122GWAS643098_Heosinophil count QTL GWAS643098 (human)1e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1241860596241860597Human
406989898GWAS638874_Hmean corpuscular volume QTL GWAS638874 (human)3e-11mean corpuscular volumemean corpuscular volume (CMO:0000038)1241870961241870962Human
406965067GWAS614043_Hage at menopause QTL GWAS614043 (human)1e-37age at menopause1241870961241870962Human
407050892GWAS699868_Hlysophosphatidylcholine 20:5 measurement QTL GWAS699868 (human)0.000004glycerophosphocholine amount (VT:0011004)1241880543241880544Human
407341448GWAS990424_Hrenal carcinoma QTL GWAS990424 (human)3e-08renal carcinoma1241856697241856698Human
407049043GWAS698019_Hage at menopause QTL GWAS698019 (human)8e-10age at menopause1241877473241877474Human
407335957GWAS984933_Hmean corpuscular volume QTL GWAS984933 (human)9e-11mean corpuscular volumemean corpuscular volume (CMO:0000038)1241870961241870962Human
407356434GWAS1005410_Hsystolic blood pressure QTL GWAS1005410 (human)2e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1241860596241860597Human
406901144GWAS550120_Hage at menopause QTL GWAS550120 (human)8e-14age at menopause1241854524241854525Human
407380243GWAS1029219_HUterine leiomyoma, breast carcinoma QTL GWAS1029219 (human)9e-15Uterine leiomyoma, breast carcinoma1241860596241860597Human
407002466GWAS651442_Heosinophil percentage of leukocytes QTL GWAS651442 (human)5e-12eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)1241860596241860597Human
406890216GWAS539192_Hbreast carcinoma QTL GWAS539192 (human)2e-14breast carcinoma1241870961241870962Human
407339631GWAS988607_Hmean corpuscular hemoglobin QTL GWAS988607 (human)1e-10mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)1241870961241870962Human
407386465GWAS1035441_Hbasal cell carcinoma QTL GWAS1035441 (human)1e-26basal cell carcinoma1241860596241860597Human
407363116GWAS1012092_Hbasal cell carcinoma QTL GWAS1012092 (human)7e-09basal cell carcinoma1241860596241860597Human
407087919GWAS736895_Hbreast carcinoma QTL GWAS736895 (human)2e-08breast carcinoma1241870961241870962Human
407088494GWAS737470_Hbreast carcinoma QTL GWAS737470 (human)0.0000003breast carcinoma1241870961241870962Human
407101678GWAS750654_Hage at menopause QTL GWAS750654 (human)2e-10age at menopause1241865502241865503Human
407355178GWAS1004154_Heosinophil count QTL GWAS1004154 (human)6e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1241860596241860597Human
406894830GWAS543806_Halpha fetoprotein measurement QTL GWAS543806 (human)1e-10blood alpha-fetoprotein amount (VT:0010776)1241857089241857090Human
407033778GWAS682754_Hmean corpuscular volume QTL GWAS682754 (human)2e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1241870961241870962Human
406966771GWAS615747_Hage at menopause QTL GWAS615747 (human)2e-13age at menopause1241889740241889741Human
406993009GWAS641985_Hmean corpuscular volume QTL GWAS641985 (human)1e-13mean corpuscular volumemean corpuscular volume (CMO:0000038)1241870961241870962Human
407186225GWAS835201_Hblood tin measurement QTL GWAS835201 (human)0.000009blood tin measurement1241856617241856618Human
407010169GWAS659145_Hmean corpuscular hemoglobin QTL GWAS659145 (human)3e-10mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)1241870961241870962Human
407099581GWAS748557_Hmean corpuscular hemoglobin QTL GWAS748557 (human)5e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)1241870961241870962Human
406991357GWAS640333_Hmean corpuscular hemoglobin concentration QTL GWAS640333 (human)3e-12Uterine leiomyoma, estrogen-receptor positive breast cancermean corpuscular hemoglobin concentration (CMO:0000291)1241870961241870962Human
407053116GWAS702092_Hbasal cell carcinoma QTL GWAS702092 (human)1e-08Uterine leiomyoma1241860596241860597Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1189 2357 2578 2119 4832 1679 2312 5 598 1936 443 2262 6896 6257 52 3592 830 1707 1609 169

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
  XM_047434104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339591 (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
  CP068277 (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

Ensembl Acc Id: ENST00000348581   ⟹   ENSP00000311873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,848,731 - 241,889,937 (+)Ensembl
Ensembl Acc Id: ENST00000366548   ⟹   ENSP00000355506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,848,204 - 241,889,939 (+)Ensembl
Ensembl Acc Id: ENST00000423131   ⟹   ENSP00000415531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,848,225 - 241,858,589 (+)Ensembl
Ensembl Acc Id: ENST00000437497   ⟹   ENSP00000412041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,848,950 - 241,858,589 (+)Ensembl
Ensembl Acc Id: ENST00000450748   ⟹   ENSP00000406652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,848,951 - 241,853,481 (+)Ensembl
Ensembl Acc Id: ENST00000469419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,850,492 - 241,860,704 (+)Ensembl
Ensembl Acc Id: ENST00000493702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,848,983 - 241,858,718 (+)Ensembl
Ensembl Acc Id: ENST00000518483   ⟹   ENSP00000430251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,848,831 - 241,889,746 (+)Ensembl
Ensembl Acc Id: ENST00000518741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,885,357 - 241,895,148 (+)Ensembl
Ensembl Acc Id: ENST00000519225   ⟹   ENSP00000429720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,847,967 - 241,850,460 (+)Ensembl
Ensembl Acc Id: ENST00000521202   ⟹   ENSP00000428326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,879,040 - 241,889,594 (+)Ensembl
Ensembl Acc Id: ENST00000523590   ⟹   ENSP00000430082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)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
T2T-CHM13v2.01241,260,774 - 241,301,952 (+)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
T2T-CHM13v2.01241,260,774 - 241,301,952 (+)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
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711840   ⟹   XP_006711903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544321   ⟹   XP_011542623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544322   ⟹   XP_011542624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544323   ⟹   XP_011542625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544324   ⟹   XP_011542626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544325   ⟹   XP_011542627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,861,415 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002793   ⟹   XP_016858282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434104   ⟹   XP_047290060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434106   ⟹   XP_047290062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434107   ⟹   XP_047290063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434108   ⟹   XP_047290064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434112   ⟹   XP_047290068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434121   ⟹   XP_047290077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434129   ⟹   XP_047290085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434130   ⟹   XP_047290086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434139   ⟹   XP_047290095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434150   ⟹   XP_047290106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,848,204 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434155   ⟹   XP_047290111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,847,986 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_047434160   ⟹   XP_047290116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,861,415 - 241,889,939 (+)NCBI
RefSeq Acc Id: XM_054339573   ⟹   XP_054195548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339574   ⟹   XP_054195549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339575   ⟹   XP_054195550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339576   ⟹   XP_054195551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339577   ⟹   XP_054195552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339578   ⟹   XP_054195553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339579   ⟹   XP_054195554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339580   ⟹   XP_054195555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339581   ⟹   XP_054195556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339582   ⟹   XP_054195557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339583   ⟹   XP_054195558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339584   ⟹   XP_054195559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339585   ⟹   XP_054195560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339586   ⟹   XP_054195561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339587   ⟹   XP_054195562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339588   ⟹   XP_054195563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,260,246 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339589   ⟹   XP_054195564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,253,764 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339590   ⟹   XP_054195565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,273,458 - 241,301,952 (+)NCBI
RefSeq Acc Id: XM_054339591   ⟹   XP_054195566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,273,458 - 241,301,952 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001306153 (Get FASTA)   NCBI Sequence Viewer  
  NP_003677 (Get FASTA)   NCBI Sequence Viewer  
  NP_006018 (Get FASTA)   NCBI Sequence Viewer  
  NP_569082 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711903 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542623 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542624 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542625 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542626 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542627 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858282 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290060 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290062 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290063 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290064 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290068 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290077 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290085 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290086 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290095 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290106 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290111 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290116 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195548 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195554 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195555 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195556 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195558 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195562 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195563 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195564 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195565 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195566 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC32259 (Get FASTA)   NCBI Sequence Viewer  
  AAC32424 (Get FASTA)   NCBI Sequence Viewer  
  AAC33874 (Get FASTA)   NCBI Sequence Viewer  
  AAC63043 (Get FASTA)   NCBI Sequence Viewer  
  AAD13754 (Get FASTA)   NCBI Sequence Viewer  
  AAH07491 (Get FASTA)   NCBI Sequence Viewer  
  AAN39382 (Get FASTA)   NCBI Sequence Viewer  
  BAF83980 (Get FASTA)   NCBI Sequence Viewer  
  CAB45733 (Get FASTA)   NCBI Sequence Viewer  
  EAW70103 (Get FASTA)   NCBI Sequence Viewer  
  EAW70104 (Get FASTA)   NCBI Sequence Viewer  
  EAW70105 (Get FASTA)   NCBI Sequence Viewer  
  EAW70106 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000311873
  ENSP00000311873.5
  ENSP00000355506
  ENSP00000355506.3
  ENSP00000406652.1
  ENSP00000412041.1
  ENSP00000415531.1
  ENSP00000428326.1
  ENSP00000429720.1
  ENSP00000430082.1
  ENSP00000430251
  ENSP00000430251.1
GenBank Protein Q9UQ84 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_569082   ⟸   NM_130398
- Peptide Label: isoform b
- UniProtKB: Q9UG38 (UniProtKB/Swiss-Prot),   Q96IJ1 (UniProtKB/Swiss-Prot),   Q5T396 (UniProtKB/Swiss-Prot),   O75466 (UniProtKB/Swiss-Prot),   O75214 (UniProtKB/Swiss-Prot),   O60545 (UniProtKB/Swiss-Prot),   Q9UNW0 (UniProtKB/Swiss-Prot),   Q9UQ84 (UniProtKB/Swiss-Prot),   A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006018   ⟸   NM_006027
- Peptide Label: isoform b
- UniProtKB: Q9UG38 (UniProtKB/Swiss-Prot),   Q96IJ1 (UniProtKB/Swiss-Prot),   Q5T396 (UniProtKB/Swiss-Prot),   O75466 (UniProtKB/Swiss-Prot),   O75214 (UniProtKB/Swiss-Prot),   O60545 (UniProtKB/Swiss-Prot),   Q9UNW0 (UniProtKB/Swiss-Prot),   Q9UQ84 (UniProtKB/Swiss-Prot),   A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003677   ⟸   NM_003686
- Peptide Label: isoform a
- UniProtKB: A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711903   ⟸   XM_006711840
- Peptide Label: isoform X1
- UniProtKB: Q9UG38 (UniProtKB/Swiss-Prot),   Q96IJ1 (UniProtKB/Swiss-Prot),   Q5T396 (UniProtKB/Swiss-Prot),   O75466 (UniProtKB/Swiss-Prot),   O75214 (UniProtKB/Swiss-Prot),   O60545 (UniProtKB/Swiss-Prot),   Q9UNW0 (UniProtKB/Swiss-Prot),   Q9UQ84 (UniProtKB/Swiss-Prot),   A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542624   ⟸   XM_011544322
- Peptide Label: isoform X1
- UniProtKB: Q9UG38 (UniProtKB/Swiss-Prot),   Q96IJ1 (UniProtKB/Swiss-Prot),   Q5T396 (UniProtKB/Swiss-Prot),   O75466 (UniProtKB/Swiss-Prot),   O75214 (UniProtKB/Swiss-Prot),   O60545 (UniProtKB/Swiss-Prot),   Q9UNW0 (UniProtKB/Swiss-Prot),   Q9UQ84 (UniProtKB/Swiss-Prot),   A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542623   ⟸   XM_011544321
- Peptide Label: isoform X1
- UniProtKB: Q9UG38 (UniProtKB/Swiss-Prot),   Q96IJ1 (UniProtKB/Swiss-Prot),   Q5T396 (UniProtKB/Swiss-Prot),   O75466 (UniProtKB/Swiss-Prot),   O75214 (UniProtKB/Swiss-Prot),   O60545 (UniProtKB/Swiss-Prot),   Q9UNW0 (UniProtKB/Swiss-Prot),   Q9UQ84 (UniProtKB/Swiss-Prot),   A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542625   ⟸   XM_011544323
- Peptide Label: isoform X2
- UniProtKB: A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542626   ⟸   XM_011544324
- Peptide Label: isoform X3
- UniProtKB: A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542627   ⟸   XM_011544325
- Peptide Label: isoform X5
- 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
- UniProtKB: A8K5H6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000415531   ⟸   ENST00000423131
Ensembl Acc Id: ENSP00000406652   ⟸   ENST00000450748
Ensembl Acc Id: ENSP00000430251   ⟸   ENST00000518483
Ensembl Acc Id: ENSP00000311873   ⟸   ENST00000348581
Ensembl Acc Id: ENSP00000429720   ⟸   ENST00000519225
Ensembl Acc Id: ENSP00000428326   ⟸   ENST00000521202
Ensembl Acc Id: ENSP00000430082   ⟸   ENST00000523590
Ensembl Acc Id: ENSP00000355506   ⟸   ENST00000366548
Ensembl Acc Id: ENSP00000412041   ⟸   ENST00000437497
RefSeq Acc Id: XP_047290060   ⟸   XM_047434104
- Peptide Label: isoform X1
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot),   Q9UG38 (UniProtKB/Swiss-Prot),   Q96IJ1 (UniProtKB/Swiss-Prot),   Q5T396 (UniProtKB/Swiss-Prot),   O75466 (UniProtKB/Swiss-Prot),   O75214 (UniProtKB/Swiss-Prot),   O60545 (UniProtKB/Swiss-Prot),   Q9UNW0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047290068   ⟸   XM_047434112
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290062   ⟸   XM_047434106
- Peptide Label: isoform X1
- UniProtKB: Q9UQ84 (UniProtKB/Swiss-Prot),   Q9UG38 (UniProtKB/Swiss-Prot),   Q96IJ1 (UniProtKB/Swiss-Prot),   Q5T396 (UniProtKB/Swiss-Prot),   O75466 (UniProtKB/Swiss-Prot),   O75214 (UniProtKB/Swiss-Prot),   O60545 (UniProtKB/Swiss-Prot),   Q9UNW0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047290064   ⟸   XM_047434108
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290085   ⟸   XM_047434129
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047290111   ⟸   XM_047434155
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290095   ⟸   XM_047434139
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290063   ⟸   XM_047434107
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290077   ⟸   XM_047434121
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047290106   ⟸   XM_047434150
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290086   ⟸   XM_047434130
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290116   ⟸   XM_047434160
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054195550   ⟸   XM_054339575
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195556   ⟸   XM_054339581
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054195552   ⟸   XM_054339577
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195551   ⟸   XM_054339576
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195555   ⟸   XM_054339580
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054195560   ⟸   XM_054339585
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195564   ⟸   XM_054339589
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054195548   ⟸   XM_054339573
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195553   ⟸   XM_054339578
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054195558   ⟸   XM_054339583
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195562   ⟸   XM_054339587
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054195554   ⟸   XM_054339579
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054195559   ⟸   XM_054339584
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195563   ⟸   XM_054339588
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054195549   ⟸   XM_054339574
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195557   ⟸   XM_054339582
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195561   ⟸   XM_054339586
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054195565   ⟸   XM_054339590
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054195566   ⟸   XM_054339591
- Peptide Label: isoform X6
Protein Domains
XPG N-terminal   XPG-I

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UQ84-F1-model_v2 AlphaFold Q9UQ84 1-846 view protein structure

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

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 Transcript ENST00000348581 ENTREZGENE
  ENST00000348581.9 UniProtKB/Swiss-Prot
  ENST00000366548 ENTREZGENE
  ENST00000366548.8 UniProtKB/Swiss-Prot
  ENST00000423131.5 UniProtKB/TrEMBL
  ENST00000437497.5 UniProtKB/TrEMBL
  ENST00000450748.1 UniProtKB/TrEMBL
  ENST00000518483 ENTREZGENE
  ENST00000518483.5 UniProtKB/Swiss-Prot
  ENST00000519225.5 UniProtKB/TrEMBL
  ENST00000521202.2 UniProtKB/TrEMBL
  ENST00000523590.5 UniProtKB/TrEMBL
Gene3D-CATH 5' to 3' exonuclease, C-terminal subdomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5'-nuclease UniProtKB/Swiss-Prot, 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_H3TH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HhH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN-like_EXO1 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 A8K5H6 ENTREZGENE, UniProtKB/TrEMBL
  E5RGY3_HUMAN UniProtKB/TrEMBL
  E5RHK1_HUMAN UniProtKB/TrEMBL
  EXO1_HUMAN UniProtKB/Swiss-Prot
  H0YAZ2_HUMAN UniProtKB/TrEMBL
  O60545 ENTREZGENE
  O75214 ENTREZGENE
  O75466 ENTREZGENE
  Q5T396 ENTREZGENE
  Q5T397_HUMAN UniProtKB/TrEMBL
  Q5T398_HUMAN UniProtKB/TrEMBL
  Q5T399_HUMAN UniProtKB/TrEMBL
  Q96IJ1 ENTREZGENE
  Q9UG38 ENTREZGENE
  Q9UNW0 ENTREZGENE
  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