EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1) - Rat Genome Database

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Gene: EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1) Homo sapiens
Analyze
Symbol: EEPD1
Name: endonuclease/exonuclease/phosphatase family domain containing 1
RGD ID: 1606501
HGNC Page HGNC:22223
Description: Predicted to enable DNA binding activity and catalytic activity. Involved in positive regulation of cholesterol efflux. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: endonuclease/exonuclease/phosphatase family domain-containing protein 1; HSPC107; KIAA1706
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
GRCh38736,153,254 - 36,301,538 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl736,153,254 - 36,301,538 (+)EnsemblGRCh38hg38GRCh38
GRCh37736,192,863 - 36,341,147 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36736,159,361 - 36,307,677 (+)NCBINCBI36Build 36hg18NCBI36
Celera736,177,448 - 36,325,726 (+)NCBICelera
Cytogenetic Map7p14.2NCBI
HuRef736,073,760 - 36,221,999 (+)NCBIHuRef
CHM1_1736,192,454 - 36,340,739 (+)NCBICHM1_1
T2T-CHM13v2.0736,294,234 - 36,442,799 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2736,230,908 - 36,379,174 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
1-benzylpiperazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
chloroethene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
diuron  (ISO)
ethanol  (ISO)
flutamide  (ISO)
FR900359  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
inulin  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
melphalan  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
nickel atom  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
plasma membrane  (IBA,IMP,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11214970   PMID:12477932   PMID:12690205   PMID:14702039   PMID:20379614   PMID:21507922   PMID:21832049   PMID:21873635   PMID:23251661   PMID:23891004   PMID:24453475   PMID:26186194  
PMID:26684013   PMID:28049724   PMID:28082258   PMID:28514442   PMID:28611215   PMID:29145865   PMID:32296183   PMID:33961781   PMID:34079125   PMID:36215168   PMID:36724073   PMID:36976175  
PMID:37071682   PMID:37931956   PMID:37976838  


Genomics

Comparative Map Data
EEPD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38736,153,254 - 36,301,538 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl736,153,254 - 36,301,538 (+)EnsemblGRCh38hg38GRCh38
GRCh37736,192,863 - 36,341,147 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36736,159,361 - 36,307,677 (+)NCBINCBI36Build 36hg18NCBI36
Celera736,177,448 - 36,325,726 (+)NCBICelera
Cytogenetic Map7p14.2NCBI
HuRef736,073,760 - 36,221,999 (+)NCBIHuRef
CHM1_1736,192,454 - 36,340,739 (+)NCBICHM1_1
T2T-CHM13v2.0736,294,234 - 36,442,799 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2736,230,908 - 36,379,174 (+)NCBI
Eepd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39925,392,809 - 25,515,406 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl925,392,843 - 25,515,406 (+)EnsemblGRCm39 Ensembl
GRCm38925,481,513 - 25,604,110 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl925,481,547 - 25,604,110 (+)EnsemblGRCm38mm10GRCm38
MGSCv37925,289,182 - 25,411,695 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36925,231,043 - 25,353,556 (+)NCBIMGSCv36mm8
Celera922,743,002 - 22,865,844 (+)NCBICelera
Cytogenetic Map9A4NCBI
cM Map910.25NCBI
Eepd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8832,233,834 - 32,340,148 (+)NCBIGRCr8
mRatBN7.2823,957,258 - 24,064,343 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl823,957,255 - 24,064,340 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx828,016,696 - 28,122,907 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0826,314,037 - 26,420,249 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0824,180,854 - 24,280,639 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0826,651,241 - 26,758,330 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl826,652,121 - 26,758,325 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0826,672,254 - 26,779,328 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4825,173,429 - 25,286,246 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1825,172,613 - 25,286,242 (+)NCBI
Celera825,525,879 - 25,631,971 (+)NCBICelera
Cytogenetic Map8q13NCBI
Eepd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554607,097,422 - 7,198,807 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554607,095,977 - 7,198,632 (-)NCBIChiLan1.0ChiLan1.0
EEPD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2640,977,504 - 41,120,149 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1789,302,238 - 89,444,888 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0736,780,705 - 36,923,248 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1737,011,162 - 37,153,304 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl737,012,129 - 37,153,307 (+)Ensemblpanpan1.1panPan2
EEPD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11447,604,548 - 47,721,301 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1447,612,004 - 47,720,906 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1447,055,019 - 47,164,836 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01447,553,845 - 47,662,419 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1447,553,828 - 47,662,414 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11447,659,643 - 47,769,417 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01447,337,241 - 47,447,088 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01447,710,413 - 47,820,102 (+)NCBIUU_Cfam_GSD_1.0
Eepd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511892,459,571 - 92,576,036 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647811,671,191 - 11,787,770 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647811,671,375 - 11,787,767 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EEPD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1837,823,920 - 37,948,659 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11837,824,450 - 37,948,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21841,556,684 - 41,599,839 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EEPD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606257,602 - 204,776 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eepd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474024,900,631 - 25,004,225 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474024,871,123 - 25,004,205 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EEPD1
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
NM_030636.2(EEPD1):c.456C>T (p.Gly152=) single nucleotide variant Malignant melanoma [RCV000067863] Chr7:36154780 [GRCh38]
Chr7:36194389 [GRCh37]
Chr7:36160914 [NCBI36]
Chr7:7p14.2		 not provided
NM_030636.2(EEPD1):c.457C>T (p.Leu153Phe) single nucleotide variant Malignant melanoma [RCV000067864] Chr7:36154781 [GRCh38]
Chr7:36194390 [GRCh37]
Chr7:36160915 [NCBI36]
Chr7:7p14.2		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1 copy number loss See cases [RCV000138190] Chr7:35460776..42013800 [GRCh38]
Chr7:35500386..42053399 [GRCh37]
Chr7:35466911..42019924 [NCBI36]
Chr7:7p14.2-14.1		 pathogenic
GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1 copy number loss See cases [RCV000140283] Chr7:32678391..41044983 [GRCh38]
Chr7:32718003..41084581 [GRCh37]
Chr7:32684528..41051106 [NCBI36]
Chr7:7p14.3-14.1		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13		 pathogenic
GRCh37/hg19 7p14.2(chr7:35915460-36766683)x1 copy number loss See cases [RCV000448342] Chr7:35915460..36766683 [GRCh37]
Chr7:7p14.2		 uncertain significance
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_030636.3(EEPD1):c.556G>A (p.Ala186Thr) single nucleotide variant not specified [RCV004317390] Chr7:36154880 [GRCh38]
Chr7:36194489 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.845G>A (p.Arg282Gln) single nucleotide variant not specified [RCV004316071] Chr7:36155169 [GRCh38]
Chr7:36194778 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1262G>T (p.Ser421Ile) single nucleotide variant not specified [RCV004311460] Chr7:36287724 [GRCh38]
Chr7:36327333 [GRCh37]
Chr7:7p14.2		 uncertain significance
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 copy number gain not provided [RCV000682909] Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_030636.3(EEPD1):c.1583C>G (p.Ala528Gly) single nucleotide variant not specified [RCV004326590] Chr7:36299079 [GRCh38]
Chr7:36338688 [GRCh37]
Chr7:7p14.2		 uncertain significance
GRCh37/hg19 7p14.2(chr7:35915460-36255863)x3 copy number gain not provided [RCV001005934] Chr7:35915460..36255863 [GRCh37]
Chr7:7p14.2		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p14.2(chr7:35915460-36766683) copy number loss not specified [RCV002053682] Chr7:35915460..36766683 [GRCh37]
Chr7:7p14.2		 uncertain significance
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_030636.3(EEPD1):c.305G>T (p.Ser102Ile) single nucleotide variant not specified [RCV004292295] Chr7:36154629 [GRCh38]
Chr7:36194238 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.359C>G (p.Ala120Gly) single nucleotide variant not specified [RCV004196072] Chr7:36154683 [GRCh38]
Chr7:36194292 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1151C>G (p.Pro384Arg) single nucleotide variant not specified [RCV004240392] Chr7:36284795 [GRCh38]
Chr7:36324404 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.130A>G (p.Thr44Ala) single nucleotide variant not specified [RCV004232142] Chr7:36154454 [GRCh38]
Chr7:36194063 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1247C>A (p.Pro416His) single nucleotide variant not specified [RCV004152038] Chr7:36287709 [GRCh38]
Chr7:36327318 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.256G>A (p.Val86Ile) single nucleotide variant not specified [RCV004232087] Chr7:36154580 [GRCh38]
Chr7:36194189 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.551A>G (p.Asn184Ser) single nucleotide variant not specified [RCV004230921] Chr7:36154875 [GRCh38]
Chr7:36194484 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1645G>A (p.Ala549Thr) single nucleotide variant not specified [RCV004160690] Chr7:36299141 [GRCh38]
Chr7:36338750 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.313A>G (p.Ser105Gly) single nucleotide variant not specified [RCV004243776] Chr7:36154637 [GRCh38]
Chr7:36194246 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1100C>T (p.Ala367Val) single nucleotide variant not specified [RCV004232930] Chr7:36284744 [GRCh38]
Chr7:36324353 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.59A>G (p.His20Arg) single nucleotide variant not specified [RCV004085057] Chr7:36154383 [GRCh38]
Chr7:36193992 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.389C>T (p.Ala130Val) single nucleotide variant not specified [RCV004228500] Chr7:36154713 [GRCh38]
Chr7:36194322 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1135G>A (p.Gly379Arg) single nucleotide variant not specified [RCV004216734] Chr7:36284779 [GRCh38]
Chr7:36324388 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1006G>A (p.Val336Ile) single nucleotide variant not specified [RCV004172451] Chr7:36281190 [GRCh38]
Chr7:36320799 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.475C>G (p.Leu159Val) single nucleotide variant not specified [RCV004238496] Chr7:36154799 [GRCh38]
Chr7:36194408 [GRCh37]
Chr7:7p14.2		 likely benign
NM_030636.3(EEPD1):c.1073C>T (p.Ala358Val) single nucleotide variant not specified [RCV004205815] Chr7:36284717 [GRCh38]
Chr7:36324326 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.95A>G (p.Asn32Ser) single nucleotide variant not specified [RCV004093911] Chr7:36154419 [GRCh38]
Chr7:36194028 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1687G>A (p.Ala563Thr) single nucleotide variant not specified [RCV004283290] Chr7:36299183 [GRCh38]
Chr7:36338792 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.831C>A (p.Asn277Lys) single nucleotide variant not specified [RCV004357294] Chr7:36155155 [GRCh38]
Chr7:36194764 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.455G>A (p.Gly152Asp) single nucleotide variant not specified [RCV004343527] Chr7:36154779 [GRCh38]
Chr7:36194388 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1706G>A (p.Arg569Gln) single nucleotide variant not specified [RCV004337428] Chr7:36299202 [GRCh38]
Chr7:36338811 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1046C>T (p.Ala349Val) single nucleotide variant not specified [RCV004356010] Chr7:36284690 [GRCh38]
Chr7:36324299 [GRCh37]
Chr7:7p14.2		 uncertain significance
GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1 copy number loss not specified [RCV003986710] Chr7:33478398..39686397 [GRCh37]
Chr7:7p14.3-14.1		 likely pathogenic
NM_030636.3(EEPD1):c.1519G>A (p.Ala507Thr) single nucleotide variant not specified [RCV004384748] Chr7:36299015 [GRCh38]
Chr7:36338624 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1563C>G (p.Asn521Lys) single nucleotide variant not specified [RCV004384749] Chr7:36299059 [GRCh38]
Chr7:36338668 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.442A>G (p.Met148Val) single nucleotide variant not specified [RCV004384754] Chr7:36154766 [GRCh38]
Chr7:36194375 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.952C>G (p.Pro318Ala) single nucleotide variant not specified [RCV004384756] Chr7:36281136 [GRCh38]
Chr7:36320745 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.329C>T (p.Ser110Phe) single nucleotide variant not specified [RCV004384753] Chr7:36154653 [GRCh38]
Chr7:36194262 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.953C>T (p.Pro318Leu) single nucleotide variant not specified [RCV004384757] Chr7:36281137 [GRCh38]
Chr7:36320746 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1414G>A (p.Ala472Thr) single nucleotide variant not specified [RCV004384746] Chr7:36297091 [GRCh38]
Chr7:36336700 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1415C>T (p.Ala472Val) single nucleotide variant not specified [RCV004384747] Chr7:36297092 [GRCh38]
Chr7:36336701 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1652G>A (p.Arg551Gln) single nucleotide variant not specified [RCV004384750] Chr7:36299148 [GRCh38]
Chr7:36338757 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.170C>T (p.Thr57Met) single nucleotide variant not specified [RCV004384752] Chr7:36154494 [GRCh38]
Chr7:36194103 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1679G>A (p.Arg560Gln) single nucleotide variant not specified [RCV004384751] Chr7:36299175 [GRCh38]
Chr7:36338784 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1069G>A (p.Asp357Asn) single nucleotide variant not specified [RCV004622206] Chr7:36284713 [GRCh38]
Chr7:36324322 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1466T>C (p.Leu489Pro) single nucleotide variant not specified [RCV004622202] Chr7:36297143 [GRCh38]
Chr7:36336752 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.533T>C (p.Val178Ala) single nucleotide variant not specified [RCV004622203] Chr7:36154857 [GRCh38]
Chr7:36194466 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1099G>A (p.Ala367Thr) single nucleotide variant not specified [RCV004622201] Chr7:36284743 [GRCh38]
Chr7:36324352 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.640A>G (p.Thr214Ala) single nucleotide variant not specified [RCV004622204] Chr7:36154964 [GRCh38]
Chr7:36194573 [GRCh37]
Chr7:7p14.2		 uncertain significance
NM_030636.3(EEPD1):c.1164C>T (p.Leu388=) single nucleotide variant not specified [RCV004622205] Chr7:36284808 [GRCh38]
Chr7:36324417 [GRCh37]
Chr7:7p14.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2124
Count of miRNA genes:881
Interacting mature miRNAs:1036
Transcripts:ENST00000242108, ENST00000444777, ENST00000468591, ENST00000487069, ENST00000534978
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406932577GWAS581553_Hhigh density lipoprotein cholesterol measurement QTL GWAS581553 (human)1e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73625331636253317Human
407239812GWAS888788_Hapolipoprotein A 1 measurement QTL GWAS888788 (human)1e-08lipid measurement, high density lipoprotein cholesterol measurementblood lipid measurement (CMO:0000050)73617131536171318Human
407331585GWAS980561_Hhigh density lipoprotein cholesterol measurement QTL GWAS980561 (human)6e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73617131536171318Human
407416078GWAS1065054_Hsystolic blood pressure QTL GWAS1065054 (human)0.000002systolic blood pressuresystolic blood pressure (CMO:0000004)73618620936186210Human
407009381GWAS658357_HAbnormality of refraction QTL GWAS658357 (human)3e-08Abnormality of refraction73615956136159562Human
407299553GWAS948529_Hschizophrenia QTL GWAS948529 (human)0.000001schizophrenia73628595236285953Human
407241582GWAS890558_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS890558 (human)2e-08lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73617131536171318Human
406988104GWAS637080_Hreticulocyte count QTL GWAS637080 (human)6e-10reticulocyte counttotal reticulocyte count (CMO:0003020)73629951736299518Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
407213518GWAS862494_Hwhole-brain volume, Alzheimer's disease biomarker measurement QTL GWAS862494 (human)0.0000004whole-brain volume, Alzheimer's disease biomarker measurement73624228836242289Human
407280618GWAS929594_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS929594 (human)5e-08phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73617131536171318Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human
407115285GWAS764261_Hmean corpuscular volume QTL GWAS764261 (human)2e-12mean corpuscular volumemean corpuscular volume (CMO:0000038)73629951736299518Human
407158997GWAS807973_Hcolor vision disorder QTL GWAS807973 (human)0.000004color vision disorder73630148036301481Human
407280885GWAS929861_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS929861 (human)4e-09blood lipid amount (VT:0003949)blood total cholesterol level (CMO:0000051)73617131536171318Human
407309779GWAS958755_Hpulse pressure measurement QTL GWAS958755 (human)1e-09pulse pressure measurementpulse pressure (CMO:0000292)73618620936186210Human
407397308GWAS1046284_Hpulse pressure measurement QTL GWAS1046284 (human)1e-08pulse pressure measurementpulse pressure (CMO:0000292)73618620936186210Human
407185907GWAS834883_Hwhole-brain volume, Alzheimer's disease biomarker measurement QTL GWAS834883 (human)0.0000003whole-brain volume, Alzheimer's disease biomarker measurement73624228836242289Human
407280273GWAS929249_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS929249 (human)6e-09free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73617131536171318Human
407111507GWAS760483_Hreticulocyte count QTL GWAS760483 (human)7e-10reticulocyte counttotal reticulocyte count (CMO:0003020)73629951736299518Human
406931897GWAS580873_Hhigh density lipoprotein cholesterol measurement QTL GWAS580873 (human)1e-16high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73615353336153534Human
407319513GWAS968489_Hhigh density lipoprotein cholesterol measurement QTL GWAS968489 (human)7e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73617131536171318Human
407043324GWAS692300_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement QTL GWAS692300 (human)0.000003aspartate aminotransferase measurement, serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)73617214036172141Human
407269177GWAS918153_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS918153 (human)4e-08phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)73617131536171318Human

Markers in Region
D7S2251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,288,553 - 36,288,706UniSTSGRCh37
GRCh37736,288,554 - 36,288,713UniSTSGRCh37
Build 36736,255,078 - 36,255,231RGDNCBI36
Celera736,273,148 - 36,273,303RGD
Celera736,273,149 - 36,273,310UniSTS
Cytogenetic Map7p14.2UniSTS
HuRef736,169,454 - 36,169,615UniSTS
HuRef736,169,455 - 36,169,622UniSTS
CRA_TCAGchr7v2736,326,599 - 36,326,752UniSTS
CRA_TCAGchr7v2736,326,600 - 36,326,759UniSTS
Marshfield Genetic Map754.84RGD
Genethon Genetic Map755.7UniSTS
TNG Radiation Hybrid Map718279.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
RH41961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,231,886 - 36,232,071UniSTSGRCh37
Build 36736,198,411 - 36,198,596RGDNCBI36
Celera736,216,501 - 36,216,686RGD
Cytogenetic Map7p14.2UniSTS
HuRef736,112,827 - 36,113,012UniSTS
CRA_TCAGchr7v2736,269,950 - 36,270,135UniSTS
GeneMap99-GB4 RH Map7166.99UniSTS
A007H36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,340,959 - 36,341,091UniSTSGRCh37
Build 36736,307,484 - 36,307,616RGDNCBI36
Celera736,325,533 - 36,325,665RGD
Cytogenetic Map7p14.2UniSTS
HuRef736,221,806 - 36,221,938UniSTS
CRA_TCAGchr7v2736,378,981 - 36,379,113UniSTS
GeneMap99-GB4 RH Map7166.79UniSTS
D7S1422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,319,400 - 36,319,611UniSTSGRCh37
Build 36736,285,925 - 36,286,136RGDNCBI36
Celera736,303,972 - 36,304,183RGD
Cytogenetic Map7p14.2UniSTS
HuRef736,200,241 - 36,200,452UniSTS
CRA_TCAGchr7v2736,357,420 - 36,357,631UniSTS
GDB:1317152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,304,411 - 36,304,561UniSTSGRCh37
Build 36736,270,936 - 36,271,086RGDNCBI36
Celera736,288,981 - 36,289,129RGD
Cytogenetic Map7p14.2UniSTS
HuRef736,185,291 - 36,185,441UniSTS
CRA_TCAGchr7v2736,342,433 - 36,342,582UniSTS
SHGC-56042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,339,188 - 36,339,315UniSTSGRCh37
Build 36736,305,713 - 36,305,840RGDNCBI36
Celera736,323,762 - 36,323,889RGD
Cytogenetic Map7p14.2UniSTS
HuRef736,220,035 - 36,220,162UniSTS
CRA_TCAGchr7v2736,377,210 - 36,377,337UniSTS
GeneMap99-GB4 RH Map7167.05UniSTS
Whitehead-RH Map7123.6UniSTS
SHGC-172301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,202,877 - 36,203,147UniSTSGRCh37
Build 36736,169,402 - 36,169,672RGDNCBI36
Cytogenetic Map7p14.2UniSTS
TNG Radiation Hybrid Map718298.0UniSTS
GDB:1318154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,233,028 - 36,233,162UniSTSGRCh37
Build 36736,199,553 - 36,199,687RGDNCBI36
Celera736,217,644 - 36,217,778RGD
Cytogenetic Map7p14.2UniSTS
HuRef736,113,969 - 36,114,103UniSTS
CRA_TCAGchr7v2736,271,093 - 36,271,227UniSTS
A005Z10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37736,339,124 - 36,339,260UniSTSGRCh37
Build 36736,305,649 - 36,305,785RGDNCBI36
Celera736,323,698 - 36,323,834RGD
Cytogenetic Map7p14.2UniSTS
HuRef736,219,971 - 36,220,107UniSTS
CRA_TCAGchr7v2736,377,146 - 36,377,282UniSTS
GeneMap99-GB4 RH Map7166.95UniSTS
D7S2384E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p14.2UniSTS
D7S2251  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p14.2UniSTS
Marshfield Genetic Map754.84UniSTS
Genethon Genetic Map755.7UniSTS
TNG Radiation Hybrid Map718279.0UniSTS
Whitehead-YAC Contig Map7 UniSTS


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
1204 2434 2788 2245 4952 1723 2349 4 622 1918 465 2268 7256 6426 53 3717 848 1735 1614 172

Sequence


Ensembl Acc Id: ENST00000242108   ⟹   ENSP00000242108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl736,153,254 - 36,301,538 (+)Ensembl
Ensembl Acc Id: ENST00000444777   ⟹   ENSP00000416373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl736,297,144 - 36,299,725 (+)Ensembl
Ensembl Acc Id: ENST00000468591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl736,287,589 - 36,299,192 (+)Ensembl
Ensembl Acc Id: ENST00000487069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl736,281,083 - 36,297,187 (+)Ensembl
Ensembl Acc Id: ENST00000534978   ⟹   ENSP00000442692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl736,153,268 - 36,299,725 (+)Ensembl
RefSeq Acc Id: NM_030636   ⟹   NP_085139
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38736,153,254 - 36,301,538 (+)NCBI
GRCh37736,192,836 - 36,341,152 (+)RGD
Build 36736,159,361 - 36,307,677 (+)NCBI Archive
Celera736,177,448 - 36,325,726 (+)RGD
HuRef736,073,760 - 36,221,999 (+)RGD
CHM1_1736,192,454 - 36,340,739 (+)NCBI
T2T-CHM13v2.0736,294,234 - 36,442,799 (+)NCBI
CRA_TCAGchr7v2736,230,908 - 36,379,174 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_085139   ⟸   NM_030636
- UniProtKB: Q96K64 (UniProtKB/Swiss-Prot),   Q9C0F7 (UniProtKB/Swiss-Prot),   Q7L9B9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000242108   ⟸   ENST00000242108
Ensembl Acc Id: ENSP00000442692   ⟸   ENST00000534978
Ensembl Acc Id: ENSP00000416373   ⟸   ENST00000444777
Protein Domains
HhH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L9B9-F1-model_v2 AlphaFold Q7L9B9 1-569 view protein structure

Promoters
RGD ID:7210383
Promoter ID:EPDNEW_H10935
Type:initiation region
Name:EEPD1_1
Description:endonuclease/exonuclease/phosphatase family domain containing1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38736,153,204 - 36,153,264EPDNEW
RGD ID:6805469
Promoter ID:HG_KWN:56988
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000337602
Position:
Human AssemblyChrPosition (strand)Source
Build 36736,158,806 - 36,159,492 (+)MPROMDB
RGD ID:6805471
Promoter ID:HG_KWN:56991
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000337605
Position:
Human AssemblyChrPosition (strand)Source
Build 36736,286,986 - 36,287,486 (+)MPROMDB
RGD ID:6805472
Promoter ID:HG_KWN:56992
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000337604
Position:
Human AssemblyChrPosition (strand)Source
Build 36736,293,731 - 36,294,231 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22223 AgrOrtholog
COSMIC EEPD1 COSMIC
Ensembl Genes ENSG00000122547 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000242108 ENTREZGENE
  ENST00000242108.9 UniProtKB/Swiss-Prot
  ENST00000444777.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.10.10 UniProtKB/Swiss-Prot
  AF1531-like domain UniProtKB/Swiss-Prot
  Photosystem II 12 kDa extrinsic protein UniProtKB/Swiss-Prot
GTEx ENSG00000122547 GTEx
HGNC ID HGNC:22223 ENTREZGENE
Human Proteome Map EEPD1 Human Proteome Map
InterPro Competence_ComEA_HhH UniProtKB/Swiss-Prot
  Endo/Exo/Phosphatase_dom_1 UniProtKB/Swiss-Prot
  Endo/exonu/phosph_ase_sf UniProtKB/Swiss-Prot
  Endo/exonuclease/phosphatase UniProtKB/Swiss-Prot
  Hlx-hairpin-Hlx_DNA-bd_motif UniProtKB/Swiss-Prot
  RuvA_2-like UniProtKB/Swiss-Prot
KEGG Report hsa:80820 UniProtKB/Swiss-Prot
NCBI Gene 80820 ENTREZGENE
OMIM 617192 OMIM
PANTHER ENDONUCLEASE/EXONUCLEASE/PHOSPHATASE FAMILY DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  ENDONUCLEASE/EXONUCLEASE/PHOSPHATASE FAMILY DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
Pfam Exo_endo_phos UniProtKB/Swiss-Prot
  HHH_3 UniProtKB/Swiss-Prot
PharmGKB PA162384303 PharmGKB
SMART HhH1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47781 UniProtKB/Swiss-Prot
  SSF56219 UniProtKB/Swiss-Prot
UniProt EEPD1_HUMAN UniProtKB/Swiss-Prot
  H7C4A5_HUMAN UniProtKB/TrEMBL
  Q7L9B9 ENTREZGENE
  Q96K64 ENTREZGENE
  Q9C0F7 ENTREZGENE
UniProt Secondary Q96K64 UniProtKB/Swiss-Prot
  Q9C0F7 UniProtKB/Swiss-Prot