ENOPH1 (enolase-phosphatase 1) - Rat Genome Database

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Gene: ENOPH1 (enolase-phosphatase 1) Homo sapiens
Analyze
Symbol: ENOPH1
Name: enolase-phosphatase 1
RGD ID: 1603616
HGNC Page HGNC:24599
Description: Enables acireductone synthase activity. Involved in L-methionine salvage from methylthioadenosine. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2,3-diketo-5-methylthio-1-phosphopentane phosphatase; acireductone synthase; DKFZp586M0524; E1; enolase-phosphatase E1; FLJ12594; MASA; MASA homolog; MST145; mtnC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ENOPH1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38482,430,590 - 82,461,177 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl482,430,590 - 82,461,177 (+)EnsemblGRCh38hg38GRCh38
GRCh37483,351,743 - 83,382,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36483,570,787 - 83,601,264 (+)NCBINCBI36Build 36hg18NCBI36
Celera480,643,013 - 80,673,557 (+)NCBICelera
Cytogenetic Map4q21.22NCBI
HuRef479,093,083 - 79,123,323 (+)NCBIHuRef
CHM1_1483,328,211 - 83,358,759 (+)NCBICHM1_1
T2T-CHM13v2.0485,760,198 - 85,790,791 (+)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

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (TAS)
nucleus  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10931946   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15489334   PMID:15843022   PMID:16169070   PMID:16344560   PMID:21873635   PMID:21900206   PMID:22658674   PMID:23376485  
PMID:26344197   PMID:26496610   PMID:27337956   PMID:27803151   PMID:28514442   PMID:29560723   PMID:30066900   PMID:31281503   PMID:31980649   PMID:32296183   PMID:32513696   PMID:32654229  
PMID:32687490   PMID:33961781   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36378417  


Genomics

Comparative Map Data
ENOPH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38482,430,590 - 82,461,177 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl482,430,590 - 82,461,177 (+)EnsemblGRCh38hg38GRCh38
GRCh37483,351,743 - 83,382,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36483,570,787 - 83,601,264 (+)NCBINCBI36Build 36hg18NCBI36
Celera480,643,013 - 80,673,557 (+)NCBICelera
Cytogenetic Map4q21.22NCBI
HuRef479,093,083 - 79,123,323 (+)NCBIHuRef
CHM1_1483,328,211 - 83,358,759 (+)NCBICHM1_1
T2T-CHM13v2.0485,760,198 - 85,790,791 (+)NCBIT2T-CHM13v2.0
Enoph1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395100,186,887 - 100,216,784 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5100,187,844 - 100,216,619 (+)EnsemblGRCm39 Ensembl
GRCm385100,039,028 - 100,068,925 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5100,039,985 - 100,068,760 (+)EnsemblGRCm38mm10GRCm38
MGSCv375100,469,013 - 100,497,784 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365100,280,316 - 100,309,064 (+)NCBIMGSCv36mm8
Celera597,353,498 - 97,383,582 (+)NCBICelera
Cytogenetic Map5E4NCBI
cM Map548.46NCBI
Enoph1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8149,835,626 - 9,862,051 (-)NCBIGRCr8
mRatBN7.2149,531,336 - 9,557,797 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl149,531,339 - 9,569,273 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx149,503,609 - 9,529,449 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01410,803,450 - 10,829,288 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0149,500,061 - 9,525,899 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01411,172,359 - 11,198,799 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1411,172,362 - 11,198,194 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01411,116,182 - 11,142,029 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41410,833,647 - 10,859,844 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11410,833,647 - 10,859,844 (-)NCBI
Celera149,632,567 - 9,658,325 (-)NCBICelera
Cytogenetic Map14p22NCBI
Enoph1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554336,522,663 - 6,549,352 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554336,522,663 - 6,549,352 (+)NCBIChiLan1.0ChiLan1.0
ENOPH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2347,608,889 - 47,639,002 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1447,798,093 - 47,828,255 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0441,741,072 - 41,771,150 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1447,591,329 - 47,621,558 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl447,591,329 - 47,621,357 (-)Ensemblpanpan1.1panPan2
ENOPH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1326,408,778 - 6,451,606 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl326,407,460 - 6,450,790 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3235,430,030 - 35,472,419 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0326,432,233 - 6,474,655 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl326,432,156 - 6,474,731 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1326,504,574 - 6,546,514 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0326,369,084 - 6,411,365 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03233,551,815 - 33,593,875 (-)NCBIUU_Cfam_GSD_1.0
Enoph1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244052855,864,719 - 5,900,494 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367382,034,169 - 2,062,271 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENOPH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8135,775,745 - 135,802,388 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18135,775,743 - 135,802,404 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28145,145,807 - 145,172,579 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENOPH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1730,810,727 - 30,843,252 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl730,810,816 - 30,844,852 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660379,372,057 - 9,406,234 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Enoph1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247578,456,966 - 8,488,229 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247578,456,021 - 8,488,262 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENOPH1
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 copy number loss See cases [RCV000050786] Chr4:75453111..84094295 [GRCh38]
Chr4:76378321..85015448 [GRCh37]
Chr4:76597345..85234472 [NCBI36]
Chr4:4q21.1-21.23		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23		 pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1		 pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 copy number loss See cases [RCV000053297] Chr4:79575748..92412449 [GRCh38]
Chr4:80496902..93333600 [GRCh37]
Chr4:80715926..93552623 [NCBI36]
Chr4:4q21.21-22.1		 pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1 copy number loss See cases [RCV000053298] Chr4:81061483..83332595 [GRCh38]
Chr4:81982637..84253748 [GRCh37]
Chr4:82201661..84472772 [NCBI36]
Chr4:4q21.21-21.23		 pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1 copy number loss See cases [RCV000053299] Chr4:81733333..83448842 [GRCh38]
Chr4:82654487..84369995 [GRCh37]
Chr4:82873511..84589019 [NCBI36]
Chr4:4q21.22-21.23		 pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1 copy number loss See cases [RCV000053300] Chr4:81802008..83437114 [GRCh38]
Chr4:82723161..84358267 [GRCh37]
Chr4:82942185..84577291 [NCBI36]
Chr4:4q21.22-21.23		 pathogenic
GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|See cases [RCV000053319] Chr4:82248692..86778340 [GRCh38]
Chr4:83169845..87699493 [GRCh37]
Chr4:83388869..87918517 [NCBI36]
Chr4:4q21.22-21.3		 pathogenic
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3		 pathogenic
GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1 copy number loss See cases [RCV000135797] Chr4:79742612..83153725 [GRCh38]
Chr4:80663766..84074878 [GRCh37]
Chr4:80882790..84293902 [NCBI36]
Chr4:4q21.21-21.22		 uncertain significance
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1 copy number loss See cases [RCV000136865] Chr4:79786514..85832807 [GRCh38]
Chr4:80707668..86753960 [GRCh37]
Chr4:80926692..86972984 [NCBI36]
Chr4:4q21.21-21.23		 pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24		 pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1 copy number loss See cases [RCV000137863] Chr4:80908016..84329610 [GRCh38]
Chr4:81829170..85250763 [GRCh37]
Chr4:82048194..85469787 [NCBI36]
Chr4:4q21.21-21.23		 likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1 copy number loss See cases [RCV000140416] Chr4:80043949..86948317 [GRCh38]
Chr4:80965103..87869469 [GRCh37]
Chr4:81184127..88088493 [NCBI36]
Chr4:4q21.21-21.3		 pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1 copy number loss See cases [RCV000143321] Chr4:81675848..83970410 [GRCh38]
Chr4:82597002..84891563 [GRCh37]
Chr4:82816026..85110587 [NCBI36]
Chr4:4q21.22-21.23		 likely pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1 copy number loss See cases [RCV000447691] Chr4:82283358..90341831 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.22(chr4:83264510-83454808)x1 copy number loss See cases [RCV000511346] Chr4:83264510..83454808 [GRCh37]
Chr4:4q21.22		 uncertain significance
GRCh37/hg19 4q21.22(chr4:83003904-83575588)x1 copy number loss See cases [RCV000511891] Chr4:83003904..83575588 [GRCh37]
Chr4:4q21.22		 uncertain significance
GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1 copy number loss See cases [RCV000511583] Chr4:82359656..84155605 [GRCh37]
Chr4:4q21.21-21.23		 likely pathogenic
GRCh37/hg19 4q21.22(chr4:82790850-83567592)x1 copy number loss See cases [RCV000512466] Chr4:82790850..83567592 [GRCh37]
Chr4:4q21.22		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.22(chr4:83371702-83469645)x1 copy number loss not provided [RCV000682427] Chr4:83371702..83469645 [GRCh37]
Chr4:4q21.22		 likely benign
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.22(chr4:83026373-83367140)x1 copy number loss not provided [RCV001005567] Chr4:83026373..83367140 [GRCh37]
Chr4:4q21.22		 likely pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 copy number loss See cases [RCV000790579] Chr4:80482400..92572499 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1 copy number loss not provided [RCV001005566] Chr4:82593140..85651685 [GRCh37]
Chr4:4q21.22-21.23		 pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228) copy number loss not provided [RCV000767792] Chr4:82043901..88334228 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1 copy number loss not provided [RCV000846933] Chr4:78769297..84968832 [GRCh37]
Chr4:4q21.1-21.23		 pathogenic
GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1 copy number loss not provided [RCV000848187] Chr4:80199183..84074906 [GRCh37]
Chr4:4q21.21-21.22		 pathogenic
NM_021204.5(ENOPH1):c.330C>T (p.Leu110=) single nucleotide variant not provided [RCV000930193] Chr4:82451186 [GRCh38]
Chr4:83372339 [GRCh37]
Chr4:4q21.22		 likely benign
Single allele deletion Chromosome 4q21 deletion syndrome [RCV001172266] Chr4:83196931..85540706 [GRCh37]
Chr4:4q21.22-21.23		 pathogenic
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3		 pathogenic
GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225) copy number loss not specified [RCV002053432] Chr4:79780152..94873225 [GRCh37]
Chr4:4q21.21-22.2		 pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421) copy number loss not specified [RCV002053435] Chr4:81054789..90667421 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1 copy number loss not provided [RCV001829208] Chr4:80467886..93362064 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) copy number gain not specified [RCV002053429] Chr4:75737340..91131156 [GRCh37]
Chr4:4q13.3-22.1		 pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
NM_021204.5(ENOPH1):c.341A>G (p.Gln114Arg) single nucleotide variant Inborn genetic diseases [RCV002794380] Chr4:82451197 [GRCh38]
Chr4:83372350 [GRCh37]
Chr4:4q21.22		 uncertain significance
NM_021204.5(ENOPH1):c.781A>G (p.Thr261Ala) single nucleotide variant Inborn genetic diseases [RCV002920964] Chr4:82460115 [GRCh38]
Chr4:83381268 [GRCh37]
Chr4:4q21.22		 likely benign
NM_021204.5(ENOPH1):c.264G>T (p.Gln88His) single nucleotide variant Inborn genetic diseases [RCV002939623] Chr4:82451120 [GRCh38]
Chr4:83372273 [GRCh37]
Chr4:4q21.22		 uncertain significance
NM_021204.5(ENOPH1):c.206T>G (p.Leu69Arg) single nucleotide variant Inborn genetic diseases [RCV002959702] Chr4:82451062 [GRCh38]
Chr4:83372215 [GRCh37]
Chr4:4q21.22		 uncertain significance
NM_021204.5(ENOPH1):c.376C>T (p.Arg126Cys) single nucleotide variant Inborn genetic diseases [RCV003191059] Chr4:82451232 [GRCh38]
Chr4:83372385 [GRCh37]
Chr4:4q21.22		 uncertain significance
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 copy number loss Chromosome 4q21 deletion syndrome [RCV003327709] Chr4:79123548..99457773 [GRCh38]
Chr4:4q21.21-23		 pathogenic
GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1 copy number loss not specified [RCV003986493] Chr4:81558759..95965995 [GRCh37]
Chr4:4q21.21-22.3		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:926
Count of miRNA genes:277
Interacting mature miRNAs:295
Transcripts:ENST00000273920, ENST00000505846, ENST00000509635
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.

Markers in Region
D4S435E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37483,372,277 - 83,372,392UniSTSGRCh37
Build 36483,591,301 - 83,591,416RGDNCBI36
Celera480,663,584 - 80,663,699RGD
Cytogenetic Map4q21.22UniSTS
HuRef479,113,351 - 79,113,466UniSTS
SHGC-112490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37483,352,481 - 83,352,758UniSTSGRCh37
Build 36483,571,505 - 83,571,782RGDNCBI36
Celera480,643,770 - 80,644,047RGD
Cytogenetic Map4q21.22UniSTS
HuRef479,093,840 - 79,094,117UniSTS
TNG Radiation Hybrid Map449235.0UniSTS
SHGC-24654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37483,382,011 - 83,382,128UniSTSGRCh37
Build 36483,601,035 - 83,601,152RGDNCBI36
Celera480,673,324 - 80,673,441RGD
Cytogenetic Map4q21.22UniSTS
HuRef479,123,090 - 79,123,207UniSTS
TNG Radiation Hybrid Map449214.0UniSTS
Stanford-G3 RH Map44471.0UniSTS
GeneMap99-GB4 RH Map4444.48UniSTS
Whitehead-RH Map4493.1UniSTS
NCBI RH Map4993.1UniSTS
GeneMap99-G3 RH Map44455.0UniSTS
SHGC-59489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37483,372,706 - 83,372,913UniSTSGRCh37
Build 36483,591,730 - 83,591,937RGDNCBI36
Celera480,664,013 - 80,664,220RGD
Cytogenetic Map4q21.22UniSTS
HuRef479,113,780 - 79,113,987UniSTS
GeneMap99-GB4 RH Map4448.54UniSTS
NCBI RH Map4973.0UniSTS
D3S1342E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q21.22UniSTS
D3S1341E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q21.22UniSTS
SHGC-67407  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q21.22UniSTS
GeneMap99-GB4 RH Map4448.54UniSTS


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 2396 1879 1539 447 1286 289 3876 1401 3702 403 1436 1605 171 1203 2309 4
Low 38 1106 184 176 663 175 480 793 20 16 18 3 2 1 1 479 1 1
Below cutoff 1 2 3 2 1 1 10 3 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001292017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC067942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL518796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW470971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN335976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA067292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA347866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000273920   ⟹   ENSP00000273920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl482,430,590 - 82,461,177 (+)Ensembl
RefSeq Acc Id: ENST00000505846   ⟹   ENSP00000427209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl482,430,662 - 82,461,087 (+)Ensembl
RefSeq Acc Id: ENST00000509635   ⟹   ENSP00000422005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl482,430,648 - 82,461,055 (+)Ensembl
RefSeq Acc Id: ENST00000610545   ⟹   ENSP00000483615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl482,451,070 - 82,461,090 (+)Ensembl
RefSeq Acc Id: NM_001292017   ⟹   NP_001278946
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38482,430,590 - 82,461,177 (+)NCBI
CHM1_1483,328,118 - 83,358,843 (+)NCBI
T2T-CHM13v2.0485,760,198 - 85,790,791 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021204   ⟹   NP_067027
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38482,430,590 - 82,461,177 (+)NCBI
GRCh37483,351,726 - 83,382,245 (+)NCBI
Build 36483,570,787 - 83,601,264 (+)NCBI Archive
Celera480,643,013 - 80,673,557 (+)RGD
HuRef479,093,083 - 79,123,323 (+)RGD
CHM1_1483,328,118 - 83,358,843 (+)NCBI
T2T-CHM13v2.0485,760,198 - 85,790,791 (+)NCBI
Sequence:
RefSeq Acc Id: NR_120457
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38482,430,590 - 82,461,177 (+)NCBI
CHM1_1483,328,118 - 83,358,843 (+)NCBI
T2T-CHM13v2.0485,760,198 - 85,790,791 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_067027   ⟸   NM_021204
- Peptide Label: isoform 1
- UniProtKB: Q7Z4C5 (UniProtKB/Swiss-Prot),   Q9BVC2 (UniProtKB/Swiss-Prot),   Q9UHY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278946   ⟸   NM_001292017
- Peptide Label: isoform 2
- UniProtKB: D6RA00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000427209   ⟸   ENST00000505846
RefSeq Acc Id: ENSP00000483615   ⟸   ENST00000610545
RefSeq Acc Id: ENSP00000422005   ⟸   ENST00000509635
RefSeq Acc Id: ENSP00000273920   ⟸   ENST00000273920

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHY7-F1-model_v2 AlphaFold Q9UHY7 1-261 view protein structure

Promoters
RGD ID:6867860
Promoter ID:EPDNEW_H7095
Type:initiation region
Name:ENOPH1_1
Description:enolase-phosphatase 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
GRCh38482,430,611 - 82,430,671EPDNEW
RGD ID:6802013
Promoter ID:HG_KWN:48608
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:NR_003249,   OTTHUMT00000252638,   OTTHUMT00000252644,   UC003HMS.1,   UC003HMT.1,   UC003HMW.1,   UC003HMX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36483,568,436 - 83,571,532 (+)MPROMDB
RGD ID:6850858
Promoter ID:EP73224
Type:initiation region
Name:HS_MASA
Description:E-1 enzyme.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36483,570,787 - 83,570,847EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24599 AgrOrtholog
COSMIC ENOPH1 COSMIC
Ensembl Genes ENSG00000145293 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273920 ENTREZGENE
  ENST00000273920.8 UniProtKB/Swiss-Prot
  ENST00000505846 ENTREZGENE
  ENST00000505846.5 UniProtKB/Swiss-Prot
  ENST00000509635 ENTREZGENE
  ENST00000509635.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.720.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145293 GTEx
HGNC ID HGNC:24599 ENTREZGENE
Human Proteome Map ENOPH1 Human Proteome Map
InterPro Enolase-ppase_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENOPH1_eukaryotes UniProtKB/Swiss-Prot
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-SF_hydro_IA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:58478 UniProtKB/Swiss-Prot
NCBI Gene 58478 ENTREZGENE
PANTHER ENOLASE-PHOSPHATASE E1 UniProtKB/Swiss-Prot
  ENOLASE-PHOSPHATASE E1 UniProtKB/Swiss-Prot
  ENOLASE-PHOSPHATASE E1 UniProtKB/TrEMBL
  ENOLASE-PHOSPHATASE E1 UniProtKB/TrEMBL
Pfam Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385052 PharmGKB
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RA00 ENTREZGENE, UniProtKB/TrEMBL
  ENOPH_HUMAN UniProtKB/Swiss-Prot
  Q7Z4C5 ENTREZGENE
  Q9BVC2 ENTREZGENE
  Q9UHY7 ENTREZGENE
UniProt Secondary Q7Z4C5 UniProtKB/Swiss-Prot
  Q9BVC2 UniProtKB/Swiss-Prot