ENDOD1 (endonuclease domain containing 1) - Rat Genome Database

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Gene: ENDOD1 (endonuclease domain containing 1) Homo sapiens
Analyze
Symbol: ENDOD1
Name: endonuclease domain containing 1
RGD ID: 1602126
HGNC Page HGNC:29129
Description: Predicted to enable endonuclease activity; metal ion binding activity; and nucleic acid binding activity. Predicted to be involved in innate immune response. Located in extracellular exosome and membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: endonuclease domain-containing 1 protein; KIAA0830; MGC88092
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100629121  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381195,089,846 - 95,132,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1195,089,846 - 95,132,645 (+)EnsemblGRCh38hg38GRCh38
GRCh371194,823,010 - 94,865,809 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361194,462,665 - 94,505,463 (+)NCBINCBI36Build 36hg18NCBI36
Celera1192,110,786 - 92,153,711 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1190,887,848 - 90,930,811 (+)NCBIHuRef
CHM1_11194,705,967 - 94,748,879 (+)NCBICHM1_1
T2T-CHM13v2.01195,096,886 - 95,139,763 (+)NCBIT2T-CHM13v2.0
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
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3',5'-cyclic AMP  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
folic acid  (ISO)
glyphosate  (ISO)
isoflavones  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
methoxyacetic acid  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
niclosamide  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pyrvinium  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
Triptolide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:10048485   PMID:11921445   PMID:12477932   PMID:15489334   PMID:16344560   PMID:19946888   PMID:22190034   PMID:22658674   PMID:22810586   PMID:23376485  
PMID:23533145   PMID:26186194   PMID:26496610   PMID:27173435   PMID:28514442   PMID:28532481   PMID:28611215   PMID:29180619   PMID:30639242   PMID:31073040   PMID:31091453   PMID:32296183  
PMID:32393512   PMID:32614325   PMID:32694731   PMID:33545068   PMID:33845483   PMID:33961781   PMID:34732716   PMID:35271311   PMID:35696571   PMID:36215168   PMID:37689310  


Genomics

Comparative Map Data
ENDOD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381195,089,846 - 95,132,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1195,089,846 - 95,132,645 (+)EnsemblGRCh38hg38GRCh38
GRCh371194,823,010 - 94,865,809 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361194,462,665 - 94,505,463 (+)NCBINCBI36Build 36hg18NCBI36
Celera1192,110,786 - 92,153,711 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1190,887,848 - 90,930,811 (+)NCBIHuRef
CHM1_11194,705,967 - 94,748,879 (+)NCBICHM1_1
T2T-CHM13v2.01195,096,886 - 95,139,763 (+)NCBIT2T-CHM13v2.0
Endod1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39914,265,286 - 14,292,538 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl914,265,286 - 14,292,803 (-)EnsemblGRCm39 Ensembl
GRCm38914,353,990 - 14,381,242 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl914,353,990 - 14,381,507 (-)EnsemblGRCm38mm10GRCm38
MGSCv37914,158,434 - 14,185,686 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36914,104,403 - 14,131,389 (-)NCBIMGSCv36mm8
Celera911,634,185 - 11,661,303 (-)NCBICelera
Cytogenetic Map9A1NCBI
cM Map93.96NCBI
Endod1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8819,490,615 - 19,520,007 (-)NCBIGRCr8
mRatBN7.2811,209,113 - 11,238,507 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl811,211,110 - 11,238,892 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx815,201,091 - 15,230,642 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0813,498,833 - 13,528,384 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0811,476,719 - 11,506,076 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0812,898,430 - 12,928,156 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl812,900,830 - 12,902,262 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.0812,843,928 - 12,873,606 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4811,151,051 - 11,180,463 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera812,705,007 - 12,734,291 (-)NCBICelera
Cytogenetic Map8q12NCBI
Endod1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541261,280 - 65,352 (+)NCBIChiLan1.0ChiLan1.0
ENDOD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2995,943,511 - 96,069,401 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11197,034,948 - 97,078,581 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01190,103,089 - 90,146,740 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11193,626,201 - 93,669,386 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1193,626,201 - 93,669,384 (+)Ensemblpanpan1.1panPan2
ENDOD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1215,936,154 - 5,978,947 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl215,939,181 - 5,981,095 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha215,947,280 - 5,974,692 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0216,116,800 - 6,144,191 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl216,118,782 - 6,144,198 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1215,904,557 - 5,931,927 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0215,967,464 - 5,994,845 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0216,015,261 - 6,042,671 (-)NCBIUU_Cfam_GSD_1.0
Endod1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494779,979,339 - 80,009,792 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367002,534,530 - 2,566,287 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367002,538,951 - 2,566,380 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENDOD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl927,134,056 - 27,164,703 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1927,134,039 - 27,163,278 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2930,923,164 - 30,952,470 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ENDOD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1186,336,828 - 86,378,737 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl186,337,580 - 86,377,974 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604339,416,326 - 39,459,054 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Endod1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473539,725,147 - 39,771,019 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473539,724,564 - 39,773,894 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENDOD1
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh38/hg38 11q21(chr11:94324282-96081666)x3 copy number gain See cases [RCV000134847] Chr11:94324282..96081666 [GRCh38]
Chr11:94057448..95814830 [GRCh37]
Chr11:93697096..95454478 [NCBI36]
Chr11:11q21
uncertain significance
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
GRCh37/hg19 11q21(chr11:94696615-95528715)x3 copy number gain Ductal breast carcinoma [RCV000207047] Chr11:94696615..95528715 [GRCh37]
Chr11:11q21
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
NM_015036.3(ENDOD1):c.722G>A (p.Arg241Gln) single nucleotide variant Inborn genetic diseases [RCV003269887] Chr11:95128798 [GRCh38]
Chr11:94861962 [GRCh37]
Chr11:11q21
likely benign
NM_015036.3(ENDOD1):c.247G>T (p.Ala83Ser) single nucleotide variant Inborn genetic diseases [RCV003273072] Chr11:95090174 [GRCh38]
Chr11:94823338 [GRCh37]
Chr11:11q21
uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh37/hg19 11q21(chr11:94681351-95176293)x1 copy number loss not provided [RCV001834496] Chr11:94681351..95176293 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1
pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11q21(chr11:94693565-95725474)x3 copy number gain See cases [RCV002287571] Chr11:94693565..95725474 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.34C>T (p.Leu12Phe) single nucleotide variant Inborn genetic diseases [RCV002993054] Chr11:95089961 [GRCh38]
Chr11:94823125 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.1055C>A (p.Ala352Glu) single nucleotide variant Inborn genetic diseases [RCV002728469] Chr11:95129131 [GRCh38]
Chr11:94862295 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3
pathogenic
NM_015036.3(ENDOD1):c.1312G>A (p.Ala438Thr) single nucleotide variant Inborn genetic diseases [RCV003012905] Chr11:95129388 [GRCh38]
Chr11:94862552 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.230T>G (p.Val77Gly) single nucleotide variant Inborn genetic diseases [RCV002753029] Chr11:95090157 [GRCh38]
Chr11:94823321 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.253C>T (p.Arg85Cys) single nucleotide variant Inborn genetic diseases [RCV002888015] Chr11:95090180 [GRCh38]
Chr11:94823344 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.104A>T (p.Asp35Val) single nucleotide variant Inborn genetic diseases [RCV002951006] Chr11:95090031 [GRCh38]
Chr11:94823195 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.17G>C (p.Trp6Ser) single nucleotide variant Inborn genetic diseases [RCV002980675] Chr11:95089944 [GRCh38]
Chr11:94823108 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.378C>A (p.Ser126Arg) single nucleotide variant Inborn genetic diseases [RCV002888749] Chr11:95128454 [GRCh38]
Chr11:94861618 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.836T>C (p.Met279Thr) single nucleotide variant Inborn genetic diseases [RCV002888202] Chr11:95128912 [GRCh38]
Chr11:94862076 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.268G>T (p.Gly90Cys) single nucleotide variant Inborn genetic diseases [RCV002692607] Chr11:95090195 [GRCh38]
Chr11:94823359 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.710T>A (p.Val237Asp) single nucleotide variant Inborn genetic diseases [RCV002850194] Chr11:95128786 [GRCh38]
Chr11:94861950 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.517C>T (p.Arg173Trp) single nucleotide variant Inborn genetic diseases [RCV002984603] Chr11:95128593 [GRCh38]
Chr11:94861757 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.1040A>T (p.Tyr347Phe) single nucleotide variant Inborn genetic diseases [RCV002929716] Chr11:95129116 [GRCh38]
Chr11:94862280 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.1024C>T (p.Leu342Phe) single nucleotide variant Inborn genetic diseases [RCV002652024] Chr11:95129100 [GRCh38]
Chr11:94862264 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.238G>A (p.Ala80Thr) single nucleotide variant Inborn genetic diseases [RCV002674213] Chr11:95090165 [GRCh38]
Chr11:94823329 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.628A>G (p.Lys210Glu) single nucleotide variant Inborn genetic diseases [RCV002940350] Chr11:95128704 [GRCh38]
Chr11:94861868 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.1088G>A (p.Cys363Tyr) single nucleotide variant Inborn genetic diseases [RCV003010924] Chr11:95129164 [GRCh38]
Chr11:94862328 [GRCh37]
Chr11:11q21
likely benign
NM_015036.3(ENDOD1):c.1115T>C (p.Ile372Thr) single nucleotide variant Inborn genetic diseases [RCV003203082] Chr11:95129191 [GRCh38]
Chr11:94862355 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.634A>G (p.Lys212Glu) single nucleotide variant Inborn genetic diseases [RCV003205402] Chr11:95128710 [GRCh38]
Chr11:94861874 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.994A>G (p.Met332Val) single nucleotide variant Inborn genetic diseases [RCV003216038] Chr11:95129070 [GRCh38]
Chr11:94862234 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.606A>G (p.Thr202=) single nucleotide variant not provided [RCV003396025] Chr11:95128682 [GRCh38]
Chr11:94861846 [GRCh37]
Chr11:11q21
likely benign
GRCh37/hg19 11q21(chr11:94818215-94926624)x1 copy number loss not provided [RCV003483136] Chr11:94818215..94926624 [GRCh37]
Chr11:11q21
uncertain significance
NM_015036.3(ENDOD1):c.396A>G (p.Thr132=) single nucleotide variant not provided [RCV003396024] Chr11:95128472 [GRCh38]
Chr11:94861636 [GRCh37]
Chr11:11q21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1053
Count of miRNA genes:706
Interacting mature miRNAs:794
Transcripts:ENST00000278505
Prediction methods:Miranda
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.

Markers in Region
D11S1788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,828,175 - 94,828,337UniSTSGRCh37
Build 361194,467,823 - 94,467,985RGDNCBI36
Celera1192,115,993 - 92,116,155RGD
Cytogenetic Map11q21UniSTS
HuRef1190,893,056 - 90,893,218UniSTS
Marshfield Genetic Map1195.43RGD
Marshfield Genetic Map1195.43UniSTS
Genethon Genetic Map1197.5UniSTS
deCODE Assembly Map1196.12UniSTS
Whitehead-YAC Contig Map11 UniSTS
D11S991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,836,244 - 94,836,440UniSTSGRCh37
Build 361194,475,892 - 94,476,088RGDNCBI36
Celera1192,124,133 - 92,124,327RGD
Cytogenetic Map11q21UniSTS
HuRef1190,901,193 - 90,901,387UniSTS
Marshfield Genetic Map1194.18UniSTS
Marshfield Genetic Map1194.18RGD
deCODE Assembly Map1196.12UniSTS
RH11665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,865,501 - 94,865,733UniSTSGRCh37
Build 361194,505,149 - 94,505,381RGDNCBI36
Celera1192,153,397 - 92,153,629RGD
Cytogenetic Map11q21UniSTS
HuRef1190,930,497 - 90,930,729UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS
G20516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,865,641 - 94,865,808UniSTSGRCh37
Build 361194,505,289 - 94,505,456RGDNCBI36
Celera1192,153,537 - 92,153,704RGD
Cytogenetic Map11q21UniSTS
HuRef1190,930,637 - 90,930,804UniSTS
A005U34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,865,641 - 94,865,808UniSTSGRCh37
Build 361194,505,289 - 94,505,456RGDNCBI36
Celera1192,153,537 - 92,153,704RGD
Cytogenetic Map11q21UniSTS
HuRef1190,930,637 - 90,930,804UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS
RH104282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,822,295 - 94,822,414UniSTSGRCh37
Build 361194,461,943 - 94,462,062RGDNCBI36
Celera1192,110,107 - 92,110,226RGD
Cytogenetic Map11q21UniSTS
HuRef1190,887,169 - 90,887,288UniSTS
GeneMap99-GB4 RH Map11317.06UniSTS
D11S1261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,836,206 - 94,836,346UniSTSGRCh37
Build 361194,475,854 - 94,475,994RGDNCBI36
Celera1192,124,095 - 92,124,233RGD
Cytogenetic Map11q21UniSTS
HuRef1190,901,155 - 90,901,293UniSTS
D11S3060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,826,054 - 94,826,241UniSTSGRCh37
Build 361194,465,702 - 94,465,889RGDNCBI36
Celera1192,113,872 - 92,114,059RGD
Cytogenetic Map11q21UniSTS
HuRef1190,890,935 - 90,891,122UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2229 1701 1274 236 1101 83 4133 1766 3538 379 1377 1519 165 1197 2747 2
Low 204 1281 445 382 834 377 222 425 189 39 72 84 6 7 41 2
Below cutoff 1 6 6 6 12 5 1 4 7 1 10 7 3 1 1 2

Sequence


RefSeq Acc Id: ENST00000278505   ⟹   ENSP00000278505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,089,846 - 95,132,645 (+)Ensembl
RefSeq Acc Id: NM_015036   ⟹   NP_055851
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,089,846 - 95,132,645 (+)NCBI
GRCh371194,822,974 - 94,865,815 (+)RGD
Build 361194,462,665 - 94,505,463 (+)NCBI Archive
Celera1192,110,786 - 92,153,711 (+)RGD
HuRef1190,887,848 - 90,930,811 (+)ENTREZGENE
CHM1_11194,705,967 - 94,748,879 (+)NCBI
T2T-CHM13v2.01195,096,886 - 95,139,763 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_055851 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH26191 (Get FASTA)   NCBI Sequence Viewer  
  AAH71171 (Get FASTA)   NCBI Sequence Viewer  
  BAA74853 (Get FASTA)   NCBI Sequence Viewer  
  BAF84362 (Get FASTA)   NCBI Sequence Viewer  
  EAW66957 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278505
  ENSP00000278505.4
GenBank Protein O94919 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055851   ⟸   NM_015036
- Peptide Label: precursor
- UniProtKB: Q6GQY5 (UniProtKB/Swiss-Prot),   A8K6K8 (UniProtKB/Swiss-Prot),   Q8TAQ8 (UniProtKB/Swiss-Prot),   O94919 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000278505   ⟸   ENST00000278505

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94919-F1-model_v2 AlphaFold O94919 1-500 view protein structure

Promoters
RGD ID:6788743
Promoter ID:HG_KWN:13985
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:NM_015036
Position:
Human AssemblyChrPosition (strand)Source
Build 361194,461,836 - 94,462,742 (+)MPROMDB
RGD ID:7221857
Promoter ID:EPDNEW_H16673
Type:initiation region
Name:ENDOD1_1
Description:endonuclease domain containing 1
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
GRCh381195,089,846 - 95,089,906EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29129 AgrOrtholog
COSMIC ENDOD1 COSMIC
Ensembl Genes ENSG00000149218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000278505 ENTREZGENE
  ENST00000278505.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.570.10 UniProtKB/Swiss-Prot
GTEx ENSG00000149218 GTEx
HGNC ID HGNC:29129 ENTREZGENE
Human Proteome Map ENDOD1 Human Proteome Map
InterPro DNA/RNA_non-sp_Endonuclease UniProtKB/Swiss-Prot
  DNA/RNA_non-sp_Endonuclease_sf UniProtKB/Swiss-Prot
  ENDOD1 UniProtKB/Swiss-Prot
  Extracellular_endonuc_su_A UniProtKB/Swiss-Prot
  His-Me_finger_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23052 UniProtKB/Swiss-Prot
NCBI Gene 23052 ENTREZGENE
OMIM 619568 OMIM
PANTHER ENDONUCLEASE DOMAIN-CONTAINING 1 PROTEIN UniProtKB/Swiss-Prot
  PTHR21472 UniProtKB/Swiss-Prot
Pfam Endonuclease_NS UniProtKB/Swiss-Prot
PharmGKB PA143485454 PharmGKB
SMART Endonuclease_NS UniProtKB/Swiss-Prot
  NUC UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54060 UniProtKB/Swiss-Prot
UniProt A8K6K8 ENTREZGENE
  ENDD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6GQY5 ENTREZGENE
  Q8TAQ8 ENTREZGENE
UniProt Secondary A8K6K8 UniProtKB/Swiss-Prot
  Q6GQY5 UniProtKB/Swiss-Prot
  Q8TAQ8 UniProtKB/Swiss-Prot