EME1 (essential meiotic structure-specific endonuclease 1) - Rat Genome Database

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Gene: EME1 (essential meiotic structure-specific endonuclease 1) Homo sapiens
Analyze
Symbol: EME1
Name: essential meiotic structure-specific endonuclease 1
RGD ID: 1319200
HGNC Page HGNC:24965
Description: Enables DNA binding activity. Involved in double-strand break repair and replication fork processing. Acts upstream of or within response to intra-S DNA damage checkpoint signaling. Located in endodeoxyribonuclease complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: crossover junction endonuclease EME1; essential meiotic endonuclease 1 homolog 1; essential meiotic endonuclease 1 homolog 2; FLJ31364; hMMS4; homolog of yeast EME1 endonuclease; MMS4 homolog; MMS4L; SLX2 structure-specific endonuclease subunit homolog A; SLX2A
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
GRCh381750,373,229 - 50,381,483 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,373,220 - 50,381,483 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,450,590 - 48,458,844 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,805,589 - 45,813,817 (+)NCBINCBI36Build 36hg18NCBI36
Build 341745,805,588 - 45,813,817NCBI
Celera1744,911,870 - 44,920,109 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,818,443 - 43,826,682 (+)NCBIHuRef
CHM1_11748,514,429 - 48,522,668 (+)NCBICHM1_1
T2T-CHM13v2.01751,240,214 - 51,248,468 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12686547   PMID:12721304   PMID:14609959   PMID:14617801   PMID:14702039   PMID:15302935   PMID:15489334   PMID:16344560   PMID:16456034   PMID:16751776   PMID:17081983  
PMID:17289582   PMID:18310322   PMID:18413719   PMID:18559551   PMID:19017809   PMID:19267403   PMID:19363487   PMID:19394292   PMID:19595721   PMID:19596235   PMID:19596236   PMID:19714462  
PMID:20522537   PMID:20610542   PMID:20734064   PMID:21832049   PMID:21858151   PMID:21859861   PMID:21873635   PMID:21962513   PMID:23361013   PMID:24076221   PMID:24412650   PMID:24528857  
PMID:24733841   PMID:24744753   PMID:24795708   PMID:25224045   PMID:25281560   PMID:25319828   PMID:25320300   PMID:25476789   PMID:25496524   PMID:25533185   PMID:25818288   PMID:26186194  
PMID:26496610   PMID:27354282   PMID:28514442   PMID:28575661   PMID:28813668   PMID:29656893   PMID:29738624   PMID:29850896   PMID:30021884   PMID:30804502   PMID:31495888   PMID:31586073  
PMID:32398829   PMID:32807901   PMID:33298441   PMID:33961781   PMID:37071664   PMID:37689310  


Genomics

Comparative Map Data
EME1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,373,229 - 50,381,483 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,373,220 - 50,381,483 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,450,590 - 48,458,844 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,805,589 - 45,813,817 (+)NCBINCBI36Build 36hg18NCBI36
Build 341745,805,588 - 45,813,817NCBI
Celera1744,911,870 - 44,920,109 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,818,443 - 43,826,682 (+)NCBIHuRef
CHM1_11748,514,429 - 48,522,668 (+)NCBICHM1_1
T2T-CHM13v2.01751,240,214 - 51,248,468 (+)NCBIT2T-CHM13v2.0
Eme1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,535,798 - 94,544,611 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1194,535,822 - 94,544,790 (-)EnsemblGRCm39 Ensembl
GRCm381194,644,972 - 94,653,836 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,644,996 - 94,653,964 (-)EnsemblGRCm38mm10GRCm38
MGSCv371194,506,316 - 94,515,068 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361194,461,092 - 94,469,844 (-)NCBIMGSCv36mm8
Celera11104,262,545 - 104,271,339 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1158.9NCBI
Eme1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81080,083,585 - 80,092,450 (-)NCBIGRCr8
mRatBN7.21079,586,718 - 79,595,515 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1079,586,729 - 79,595,435 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1084,191,828 - 84,197,822 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01083,689,904 - 83,695,898 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01079,205,340 - 79,211,374 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01082,366,820 - 82,375,510 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,367,084 - 82,374,171 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01082,185,158 - 82,194,105 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41083,279,086 - 83,285,091 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11083,293,455 - 83,299,461 (-)NCBI
Celera1078,374,984 - 78,380,578 (-)NCBICelera
Cytogenetic Map10q26NCBI
Eme1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,329,601 - 11,334,372 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,328,759 - 11,336,099 (-)NCBIChiLan1.0ChiLan1.0
EME1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21966,564,665 - 66,573,300 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11771,372,113 - 71,380,389 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01744,467,537 - 44,475,883 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11749,341,791 - 49,349,959 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,341,791 - 49,349,959 (+)Ensemblpanpan1.1panPan2
EME1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,342,419 - 26,350,561 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,344,438 - 26,349,997 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,735,404 - 25,743,563 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0927,136,828 - 27,144,964 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl927,138,844 - 27,144,398 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1925,904,602 - 25,912,748 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0926,163,280 - 26,171,437 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0926,293,303 - 26,301,463 (+)NCBIUU_Cfam_GSD_1.0
Eme1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560225,758,874 - 25,766,971 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649011,308,393 - 11,314,785 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649011,307,739 - 11,316,203 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EME1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,670,176 - 26,680,601 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,670,126 - 26,680,097 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21226,603,468 - 26,611,786 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EME1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11642,949,059 - 42,957,323 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1642,949,570 - 42,955,312 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607713,664,506 - 13,673,049 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eme1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247956,311,065 - 6,316,237 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247956,309,186 - 6,316,707 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EME1
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_152463.4(EME1):c.71C>G (p.Ala24Gly) single nucleotide variant not specified [RCV004320483] Chr17:50375279 [GRCh38]
Chr17:48452640 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.451C>T (p.Pro151Ser) single nucleotide variant not specified [RCV004283715] Chr17:50375659 [GRCh38]
Chr17:48453020 [GRCh37]
Chr17:17q21.33		 likely benign
NM_152463.4(EME1):c.1606G>A (p.Glu536Lys) single nucleotide variant not specified [RCV004298685] Chr17:50380832 [GRCh38]
Chr17:48458193 [GRCh37]
Chr17:17q21.33		 uncertain significance
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_152463.4(EME1):c.15G>T (p.Lys5Asn) single nucleotide variant not provided [RCV000882045] Chr17:50375223 [GRCh38]
Chr17:48452584 [GRCh37]
Chr17:17q21.33		 benign
NM_152463.4(EME1):c.934G>A (p.Val312Ile) single nucleotide variant not specified [RCV004298372] Chr17:50378625 [GRCh38]
Chr17:48455986 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1276G>A (p.Val426Met) single nucleotide variant not specified [RCV004162527] Chr17:50379497 [GRCh38]
Chr17:48456858 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1634T>C (p.Ile545Thr) single nucleotide variant not specified [RCV004097573] Chr17:50380860 [GRCh38]
Chr17:48458221 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.317C>A (p.Thr106Asn) single nucleotide variant not specified [RCV004162394] Chr17:50375525 [GRCh38]
Chr17:48452886 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.766C>G (p.Leu256Val) single nucleotide variant not specified [RCV004115243] Chr17:50375974 [GRCh38]
Chr17:48453335 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.524C>T (p.Thr175Ile) single nucleotide variant not specified [RCV004084892] Chr17:50375732 [GRCh38]
Chr17:48453093 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1362A>C (p.Glu454Asp) single nucleotide variant not specified [RCV004232111] Chr17:50380327 [GRCh38]
Chr17:48457688 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.851C>T (p.Ala284Val) single nucleotide variant not specified [RCV004117693] Chr17:50376141 [GRCh38]
Chr17:48453502 [GRCh37]
Chr17:17q21.33		 likely benign
NM_152463.4(EME1):c.1493G>A (p.Ser498Asn) single nucleotide variant not specified [RCV004200207] Chr17:50380458 [GRCh38]
Chr17:48457819 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.331A>C (p.Ser111Arg) single nucleotide variant not specified [RCV004114241] Chr17:50375539 [GRCh38]
Chr17:48452900 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1591C>G (p.Gln531Glu) single nucleotide variant not specified [RCV004232273] Chr17:50380817 [GRCh38]
Chr17:48458178 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1256C>T (p.Thr419Ile) single nucleotide variant not specified [RCV004094854] Chr17:50379477 [GRCh38]
Chr17:48456838 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.380A>G (p.Asn127Ser) single nucleotide variant not specified [RCV004227419] Chr17:50375588 [GRCh38]
Chr17:48452949 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.124G>A (p.Glu42Lys) single nucleotide variant not specified [RCV004237839] Chr17:50375332 [GRCh38]
Chr17:48452693 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.119G>A (p.Arg40Lys) single nucleotide variant not specified [RCV004213523] Chr17:50375327 [GRCh38]
Chr17:48452688 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1303T>C (p.Phe435Leu) single nucleotide variant not specified [RCV004102159] Chr17:50379524 [GRCh38]
Chr17:48456885 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.197C>T (p.Pro66Leu) single nucleotide variant not specified [RCV004189231] Chr17:50375405 [GRCh38]
Chr17:48452766 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1267G>A (p.Ala423Thr) single nucleotide variant not specified [RCV004219507] Chr17:50379488 [GRCh38]
Chr17:48456849 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.845T>C (p.Ile282Thr) single nucleotide variant not specified [RCV004257982] Chr17:50376135 [GRCh38]
Chr17:48453496 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1595T>G (p.Val532Gly) single nucleotide variant not specified [RCV004276484] Chr17:50380821 [GRCh38]
Chr17:48458182 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.268G>A (p.Glu90Lys) single nucleotide variant not specified [RCV004312265] Chr17:50375476 [GRCh38]
Chr17:48452837 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.754A>G (p.Ile252Val) single nucleotide variant not specified [RCV004344506] Chr17:50375962 [GRCh38]
Chr17:48453323 [GRCh37]
Chr17:17q21.33		 likely benign
NM_152463.4(EME1):c.896C>T (p.Pro299Leu) single nucleotide variant not specified [RCV004358197] Chr17:50376186 [GRCh38]
Chr17:48453547 [GRCh37]
Chr17:17q21.33		 likely benign
Single allele deletion Osteogenesis imperfecta type I [RCV003494598] Chr17:48201213..48507464 [GRCh37]
Chr17:17q21.33		 pathogenic
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic
NM_152463.4(EME1):c.1459C>G (p.Gln487Glu) single nucleotide variant not specified [RCV004382455] Chr17:50380424 [GRCh38]
Chr17:48457785 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1556C>T (p.Ser519Leu) single nucleotide variant not specified [RCV004382456] Chr17:50380782 [GRCh38]
Chr17:48458143 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1655G>T (p.Arg552Leu) single nucleotide variant not specified [RCV004382458] Chr17:50380881 [GRCh38]
Chr17:48458242 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.457A>G (p.Arg153Gly) single nucleotide variant not specified [RCV004382460] Chr17:50375665 [GRCh38]
Chr17:48453026 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.863C>T (p.Pro288Leu) single nucleotide variant not specified [RCV004382463] Chr17:50376153 [GRCh38]
Chr17:48453514 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1000G>A (p.Asp334Asn) single nucleotide variant not specified [RCV004382453] Chr17:50378783 [GRCh38]
Chr17:48456144 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.602C>T (p.Pro201Leu) single nucleotide variant not specified [RCV004382461] Chr17:50375810 [GRCh38]
Chr17:48453171 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.704C>T (p.Ala235Val) single nucleotide variant not specified [RCV004382462] Chr17:50375912 [GRCh38]
Chr17:48453273 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1627C>T (p.Arg543Cys) single nucleotide variant not specified [RCV004382457] Chr17:50380853 [GRCh38]
Chr17:48458214 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.202C>G (p.Pro68Ala) single nucleotide variant not specified [RCV004382459] Chr17:50375410 [GRCh38]
Chr17:48452771 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_152463.4(EME1):c.1113-24C>G single nucleotide variant not specified [RCV004382454] Chr17:50379083 [GRCh38]
Chr17:48456444 [GRCh37]
Chr17:17q21.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2229
Count of miRNA genes:883
Interacting mature miRNAs:1064
Transcripts:ENST00000338165, ENST00000393271, ENST00000507616, ENST00000510007, ENST00000510246, ENST00000511519, ENST00000511648, ENST00000511711, ENST00000513077, ENST00000514211
Prediction methods: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.

Markers in Region
G62125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,458,827 - 48,458,985UniSTSGRCh37
Build 361745,813,826 - 45,813,984RGDNCBI36
Celera1744,920,116 - 44,920,274RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,826,689 - 43,826,847UniSTS
SGC32559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,458,686 - 48,458,770UniSTSGRCh37
Build 361745,813,685 - 45,813,769RGDNCBI36
Celera1744,919,975 - 44,920,059RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,826,548 - 43,826,632UniSTS
GeneMap99-GB4 RH Map17352.21UniSTS
Whitehead-RH Map17388.4UniSTS
NCBI RH Map17604.8UniSTS
EME1__7583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,458,124 - 48,458,862UniSTSGRCh37
Build 361745,813,123 - 45,813,861RGDNCBI36
Celera1744,919,413 - 44,920,151RGD
HuRef1743,825,986 - 43,826,724UniSTS
G20838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,458,754 - 48,458,877UniSTSGRCh37
Build 361745,813,753 - 45,813,876RGDNCBI36
Celera1744,920,043 - 44,920,166RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,826,616 - 43,826,739UniSTS
A006I13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,458,754 - 48,458,877UniSTSGRCh37
Build 361745,813,753 - 45,813,876RGDNCBI36
Celera1744,920,043 - 44,920,166RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,826,616 - 43,826,739UniSTS
GeneMap99-GB4 RH Map17347.1UniSTS
NCBI RH Map17604.8UniSTS
WI-11424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,458,639 - 48,458,741UniSTSGRCh37
Build 361745,813,638 - 45,813,740RGDNCBI36
Celera1744,919,928 - 44,920,030RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,826,501 - 43,826,603UniSTS
GeneMap99-GB4 RH Map17351.48UniSTS
Whitehead-RH Map17389.6UniSTS
NCBI RH Map17604.8UniSTS
G73139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,456,189 - 48,456,877UniSTSGRCh37
Build 361745,811,188 - 45,811,876RGDNCBI36
Celera1744,917,478 - 44,918,166RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,824,051 - 43,824,739UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 90 4 31 26 565 30 250 49 88 44 536 226 8 2
Low 1395 870 923 287 756 161 2791 475 1628 206 805 1049 126 890 1600 3 2
Below cutoff 952 2086 764 306 611 269 1310 1661 2010 167 116 334 38 313 1184

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA006645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB245967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ578819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338165   ⟹   ENSP00000339897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,373,229 - 50,381,483 (+)Ensembl
RefSeq Acc Id: ENST00000393271   ⟹   ENSP00000376952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,373,220 - 50,381,459 (+)Ensembl
RefSeq Acc Id: ENST00000507616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,379,759 - 50,381,457 (+)Ensembl
RefSeq Acc Id: ENST00000510007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,373,254 - 50,380,187 (+)Ensembl
RefSeq Acc Id: ENST00000510246   ⟹   ENSP00000425567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,375,688 - 50,380,802 (+)Ensembl
RefSeq Acc Id: ENST00000511519   ⟹   ENSP00000423029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,373,254 - 50,378,681 (+)Ensembl
RefSeq Acc Id: ENST00000511648   ⟹   ENSP00000421700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,375,185 - 50,381,459 (+)Ensembl
RefSeq Acc Id: ENST00000511711   ⟹   ENSP00000427392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,373,242 - 50,376,193 (+)Ensembl
RefSeq Acc Id: ENST00000513077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,376,109 - 50,379,601 (+)Ensembl
RefSeq Acc Id: ENST00000514211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,378,883 - 50,380,315 (+)Ensembl
RefSeq Acc Id: NM_001166131   ⟹   NP_001159603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,381,483 (+)NCBI
GRCh371748,450,581 - 48,458,820 (+)ENTREZGENE
HuRef1743,818,443 - 43,826,682 (+)ENTREZGENE
CHM1_11748,514,429 - 48,522,668 (+)NCBI
T2T-CHM13v2.01751,240,214 - 51,248,468 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152463   ⟹   NP_689676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,381,483 (+)NCBI
GRCh371748,450,581 - 48,458,820 (+)ENTREZGENE
Build 361745,805,589 - 45,813,817 (+)NCBI Archive
HuRef1743,818,443 - 43,826,682 (+)ENTREZGENE
CHM1_11748,514,429 - 48,522,668 (+)NCBI
T2T-CHM13v2.01751,240,214 - 51,248,468 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257081   ⟹   XP_005257138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,381,483 (+)NCBI
GRCh371748,450,581 - 48,458,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024236   ⟹   XP_016879725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,381,483 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435470   ⟹   XP_047291426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,381,483 (+)NCBI
RefSeq Acc Id: XM_047435471   ⟹   XP_047291427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,380,404 (+)NCBI
RefSeq Acc Id: XM_047435472   ⟹   XP_047291428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,381,483 (+)NCBI
RefSeq Acc Id: XM_054315223   ⟹   XP_054171198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,240,214 - 51,248,468 (+)NCBI
RefSeq Acc Id: XM_054315224   ⟹   XP_054171199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,240,214 - 51,247,389 (+)NCBI
RefSeq Acc Id: XM_054315225   ⟹   XP_054171200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,240,214 - 51,248,468 (+)NCBI
RefSeq Acc Id: XM_054315226   ⟹   XP_054171201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,240,214 - 51,248,468 (+)NCBI
RefSeq Acc Id: XR_007065270
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,373,229 - 50,380,401 (+)NCBI
RefSeq Acc Id: XR_008484789
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,240,214 - 51,247,386 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001159603   ⟸   NM_001166131
- Peptide Label: isoform 1
- UniProtKB: Q96AY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_689676   ⟸   NM_152463
- Peptide Label: isoform 2
- UniProtKB: Q96N62 (UniProtKB/Swiss-Prot),   Q96AY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257138   ⟸   XM_005257081
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016879725   ⟸   XM_017024236
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000339897   ⟸   ENST00000338165
RefSeq Acc Id: ENSP00000425567   ⟸   ENST00000510246
RefSeq Acc Id: ENSP00000423029   ⟸   ENST00000511519
RefSeq Acc Id: ENSP00000427392   ⟸   ENST00000511711
RefSeq Acc Id: ENSP00000421700   ⟸   ENST00000511648
RefSeq Acc Id: ENSP00000376952   ⟸   ENST00000393271
RefSeq Acc Id: XP_047291426   ⟸   XM_047435470
- Peptide Label: isoform X5
- UniProtKB: Q96AY2 (UniProtKB/Swiss-Prot),   Q96N62 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047291428   ⟸   XM_047435472
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047291427   ⟸   XM_047435471
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054171201   ⟸   XM_054315226
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054171198   ⟸   XM_054315223
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054171200   ⟸   XM_054315225
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054171199   ⟸   XM_054315224
- Peptide Label: isoform X2
Protein Domains
ERCC4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96AY2-F1-model_v2 AlphaFold Q96AY2 1-570 view protein structure

Promoters
RGD ID:6793976
Promoter ID:HG_KWN:26569
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000393275,   NM_001166131,   NM_016504,   NM_152463,   UC002IQR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,804,291 - 45,805,582 (+)MPROMDB
RGD ID:6793973
Promoter ID:HG_KWN:26571
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   Lymphoblastoid
Transcripts:UC010DBQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,811,821 - 45,812,832 (+)MPROMDB
RGD ID:7235639
Promoter ID:EPDNEW_H23566
Type:initiation region
Name:EME1_1
Description:essential meiotic structure-specific endonuclease 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
GRCh381750,373,249 - 50,373,309EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24965 AgrOrtholog
COSMIC EME1 COSMIC
Ensembl Genes ENSG00000154920 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338165 ENTREZGENE
  ENST00000338165.9 UniProtKB/Swiss-Prot
  ENST00000393271 ENTREZGENE
  ENST00000393271.6 UniProtKB/Swiss-Prot
  ENST00000510246.1 UniProtKB/TrEMBL
  ENST00000511519.6 UniProtKB/TrEMBL
  ENST00000511648.6 UniProtKB/Swiss-Prot
  ENST00000511711.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.670 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.1620.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.10130 UniProtKB/TrEMBL
  4.10.800.30 UniProtKB/Swiss-Prot
GTEx ENSG00000154920 GTEx
HGNC ID HGNC:24965 ENTREZGENE
Human Proteome Map EME1 Human Proteome Map
InterPro EME1/EME2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Eme1_nucdom_sub2 UniProtKB/Swiss-Prot
  ERCC4_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERCC4_Mus81-Eme1_nucdom_sub1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mms4/EME1/EME2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPF_nuclease_EME1_vertebrates UniProtKB/Swiss-Prot
KEGG Report hsa:146956 UniProtKB/Swiss-Prot
NCBI Gene 146956 ENTREZGENE
OMIM 610885 OMIM
PANTHER CROSSOVER JUNCTION ENDONUCLEASE EME1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21077 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EME1-MUS81_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERCC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134904115 PharmGKB
SMART ERCC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RIT8_HUMAN UniProtKB/TrEMBL
  EME1_HUMAN UniProtKB/Swiss-Prot
  F8W714_HUMAN UniProtKB/TrEMBL
  H0Y9Z4_HUMAN UniProtKB/TrEMBL
  Q96AY2 ENTREZGENE
  Q96N62 ENTREZGENE
UniProt Secondary Q96N62 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-09 EME1  essential meiotic structure-specific endonuclease 1    essential meiotic endonuclease 1 homolog 1 (S. pombe)  Symbol and/or name change 5135510 APPROVED