EVA1A (eva-1 homolog A, regulator of programmed cell death) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: EVA1A (eva-1 homolog A, regulator of programmed cell death) Homo sapiens
Analyze
Symbol: EVA1A
Name: eva-1 homolog A, regulator of programmed cell death
RGD ID: 1604577
HGNC Page HGNC:25816
Description: Predicted to be involved in apoptotic process and autophagy. Located in intracellular membrane-bounded organelle and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: eva-1 homolog A; FAM176A; family with sequence similarity 176, member A; FLJ13391; TMEM166; transmembrane protein 166
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38275,492,318 - 75,569,719 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl275,469,302 - 75,569,722 (-)EnsemblGRCh38hg38GRCh38
GRCh37275,719,444 - 75,796,845 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36275,572,952 - 75,650,356 (-)NCBINCBI36Build 36hg18NCBI36
Celera275,550,740 - 75,628,141 (-)NCBICelera
Cytogenetic Map2p12NCBI
HuRef275,457,364 - 75,534,681 (-)NCBIHuRef
CHM1_1275,648,737 - 75,726,128 (-)NCBICHM1_1
T2T-CHM13v2.0275,501,601 - 75,579,027 (-)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
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[ghi]perylene  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CCCP  (EXP)
chloroprene  (ISO)
chloroquine  (EXP)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
doxorubicin  (EXP)
ethanol  (ISO)
fipronil  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
indometacin  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
methimazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
quercitrin  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15498874   PMID:15815621   PMID:16169070   PMID:17492404   PMID:18029348   PMID:20379614   PMID:21873635   PMID:22227058  
PMID:22495369   PMID:23098460   PMID:23251661   PMID:23509613   PMID:24257118   PMID:25363290   PMID:26514267   PMID:27490928   PMID:28185834   PMID:28692057   PMID:29749374   PMID:30232004  
PMID:31754186   PMID:31977009   PMID:32296183   PMID:32969138   PMID:33006534   PMID:33200377   PMID:33556710   PMID:36078115   PMID:36273122   PMID:36794585  


Genomics

Comparative Map Data
EVA1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38275,492,318 - 75,569,719 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl275,469,302 - 75,569,722 (-)EnsemblGRCh38hg38GRCh38
GRCh37275,719,444 - 75,796,845 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36275,572,952 - 75,650,356 (-)NCBINCBI36Build 36hg18NCBI36
Celera275,550,740 - 75,628,141 (-)NCBICelera
Cytogenetic Map2p12NCBI
HuRef275,457,364 - 75,534,681 (-)NCBIHuRef
CHM1_1275,648,737 - 75,726,128 (-)NCBICHM1_1
T2T-CHM13v2.0275,501,601 - 75,579,027 (-)NCBIT2T-CHM13v2.0
Eva1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39682,018,058 - 82,070,079 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl682,018,024 - 82,070,080 (+)EnsemblGRCm39 Ensembl
GRCm38682,041,048 - 82,093,099 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl682,041,043 - 82,093,099 (+)EnsemblGRCm38mm10GRCm38
MGSCv37681,991,622 - 82,043,093 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36682,007,331 - 82,058,756 (+)NCBIMGSCv36mm8
Celera684,034,678 - 84,086,332 (+)NCBICelera
Cytogenetic Map6C3NCBI
cM Map635.81NCBI
Eva1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84116,151,595 - 116,200,827 (+)NCBIGRCr8
mRatBN7.24114,593,773 - 114,643,011 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4114,593,341 - 114,643,011 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4120,048,186 - 120,097,229 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04115,823,355 - 115,872,408 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04114,443,579 - 114,492,630 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04112,714,023 - 112,823,659 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4112,773,938 - 112,823,659 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04177,461,600 - 177,511,382 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44116,280,880 - 116,330,122 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4103,592,203 - 103,641,231 (+)NCBICelera
Cytogenetic Map4q34NCBI
Eva1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542410,340,214 - 10,357,557 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542410,308,586 - 10,358,477 (+)NCBIChiLan1.0ChiLan1.0
EVA1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21250,736,389 - 50,890,939 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A50,739,143 - 50,893,693 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A75,564,684 - 75,718,677 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A77,068,221 - 77,206,594 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A77,068,221 - 77,136,854 (-)Ensemblpanpan1.1panPan2
EVA1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11747,769,808 - 47,818,449 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1747,769,875 - 47,817,560 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1747,413,447 - 47,462,149 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01748,632,667 - 48,681,354 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1748,656,401 - 48,681,262 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11747,648,128 - 47,697,025 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01747,712,232 - 47,760,915 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01748,274,870 - 48,323,553 (+)NCBIUU_Cfam_GSD_1.0
Eva1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244062929,018,944 - 9,078,741 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365561,658,858 - 1,694,822 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365561,659,203 - 1,728,245 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EVA1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl367,680,736 - 67,734,222 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1367,710,915 - 67,730,554 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EVA1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11431,693,196 - 31,761,317 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1431,732,129 - 31,761,329 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604580,435,308 - 80,503,398 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eva1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474927,798,827 - 27,855,008 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474927,798,705 - 27,854,588 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EVA1A
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p12(chr2:75252767-76559619)x3 copy number gain See cases [RCV000052663] Chr2:75252767..76559619 [GRCh38]
Chr2:75479893..76786745 [GRCh37]
Chr2:75333401..76640253 [NCBI36]
Chr2:2p12		 uncertain significance
NM_001135032.1(EVA1A):c.-191-16804T>G single nucleotide variant Lung cancer [RCV000092316] Chr2:75539291 [GRCh38]
Chr2:75766417 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2		 pathogenic
GRCh38/hg38 2p12(chr2:75252967-76559478)x3 copy number gain See cases [RCV000135959] Chr2:75252967..76559478 [GRCh38]
Chr2:75480093..76786604 [GRCh37]
Chr2:75333601..76640112 [NCBI36]
Chr2:2p12		 uncertain significance
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1 copy number loss See cases [RCV000143456] Chr2:74375779..75517520 [GRCh38]
Chr2:74602906..75744646 [GRCh37]
Chr2:74456414..75598154 [NCBI36]
Chr2:2p13.1-12		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p12(chr2:75265687-77573171)x3 copy number gain See cases [RCV000449198] Chr2:75265687..77573171 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2		 pathogenic
GRCh37/hg19 2p12(chr2:75185910-76183197)x3 copy number gain not provided [RCV000682112] Chr2:75185910..76183197 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 copy number loss not provided [RCV000682167] Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2		 pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p12(chr2:75777968-75810755)x3 copy number gain not provided [RCV000753027] Chr2:75777968..75810755 [GRCh37]
Chr2:2p12		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p12(chr2:75605955-76387104)x3 copy number gain not provided [RCV000849031] Chr2:75605955..76387104 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p12(chr2:75793425-78869861)x4 copy number gain not provided [RCV000847482] Chr2:75793425..78869861 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p13.1-12(chr2:74928349-77095981)x3 copy number gain not provided [RCV000849780] Chr2:74928349..77095981 [GRCh37]
Chr2:2p13.1-12		 uncertain significance
GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1 copy number loss not provided [RCV000846568] Chr2:74972080..83043893 [GRCh37]
Chr2:2p13.1-12		 pathogenic
GRCh37/hg19 2p13.1-12(chr2:74895347-75829809)x3 copy number gain not provided [RCV000849901] Chr2:74895347..75829809 [GRCh37]
Chr2:2p13.1-12		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p12(chr2:75443576-76807661)x3 copy number gain not provided [RCV001259611] Chr2:75443576..76807661 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p12(chr2:75443577-76807661)x3 copy number gain not provided [RCV001834189] Chr2:75443577..76807661 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p12(chr2:75265687-77573171) copy number gain not specified [RCV002053161] Chr2:75265687..77573171 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p12(chr2:75547019-75728234)x1 copy number loss not provided [RCV002474777] Chr2:75547019..75728234 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.280G>A (p.Asp94Asn) single nucleotide variant Inborn genetic diseases [RCV002734261] Chr2:75493415 [GRCh38]
Chr2:75720541 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.124G>C (p.Val42Leu) single nucleotide variant Inborn genetic diseases [RCV002687954] Chr2:75493571 [GRCh38]
Chr2:75720697 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.425T>C (p.Val142Ala) single nucleotide variant Inborn genetic diseases [RCV002884409] Chr2:75493270 [GRCh38]
Chr2:75720396 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.358C>T (p.Arg120Cys) single nucleotide variant Inborn genetic diseases [RCV002888810] Chr2:75493337 [GRCh38]
Chr2:75720463 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.184G>A (p.Asp62Asn) single nucleotide variant Inborn genetic diseases [RCV002804068] Chr2:75493511 [GRCh38]
Chr2:75720637 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.326A>T (p.Lys109Met) single nucleotide variant Inborn genetic diseases [RCV002835587] Chr2:75493369 [GRCh38]
Chr2:75720495 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.34G>A (p.Val12Met) single nucleotide variant Inborn genetic diseases [RCV002941754] Chr2:75518107 [GRCh38]
Chr2:75745233 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.196C>T (p.Arg66Cys) single nucleotide variant Inborn genetic diseases [RCV002934534] Chr2:75493499 [GRCh38]
Chr2:75720625 [GRCh37]
Chr2:2p12		 uncertain significance
NM_001135032.2(EVA1A):c.56A>G (p.Asn19Ser) single nucleotide variant Inborn genetic diseases [RCV003190082] Chr2:75518085 [GRCh38]
Chr2:75745211 [GRCh37]
Chr2:2p12		 likely benign
NM_001135032.2(EVA1A):c.18C>G (p.Ser6Arg) single nucleotide variant Inborn genetic diseases [RCV003359888] Chr2:75518123 [GRCh38]
Chr2:75745249 [GRCh37]
Chr2:2p12		 uncertain significance
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1 copy number loss not specified [RCV003986388] Chr2:71076472..76368354 [GRCh37]
Chr2:2p13.3-12		 likely pathogenic
NM_001135032.2(EVA1A):c.233G>A (p.Ser78Asn) single nucleotide variant EVA1A-related condition [RCV003971593] Chr2:75493462 [GRCh38]
Chr2:75720588 [GRCh37]
Chr2:2p12		 benign
NM_001135032.2(EVA1A):c.235AGCGACAGC[1] (p.79SDS[1]) microsatellite EVA1A-related condition [RCV003976359] Chr2:75493443..75493451 [GRCh38]
Chr2:75720569..75720577 [GRCh37]
Chr2:2p12		 benign
NM_001135032.2(EVA1A):c.297A>G (p.Arg99=) single nucleotide variant EVA1A-related condition [RCV003972271] Chr2:75493398 [GRCh38]
Chr2:75720524 [GRCh37]
Chr2:2p12		 likely benign
NM_001135032.2(EVA1A):c.449G>A (p.Arg150His) single nucleotide variant EVA1A-related condition [RCV003972281] Chr2:75493246 [GRCh38]
Chr2:75720372 [GRCh37]
Chr2:2p12		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2556
Count of miRNA genes:869
Interacting mature miRNAs:1015
Transcripts:ENST00000233712, ENST00000393913, ENST00000410010, ENST00000410071, ENST00000410113, ENST00000432649, ENST00000452003, ENST00000485891, ENST00000486489, ENST00000486696, ENST00000490746
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH69495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37275,719,960 - 75,720,157UniSTSGRCh37
Build 36275,573,468 - 75,573,665RGDNCBI36
Celera275,551,256 - 75,551,453RGD
Cytogenetic Map2p12UniSTS
HuRef275,457,882 - 75,458,079UniSTS
GeneMap99-GB4 RH Map2222.62UniSTS
SHGC-84597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37275,776,945 - 75,777,226UniSTSGRCh37
Build 36275,630,453 - 75,630,734RGDNCBI36
Celera275,608,238 - 75,608,519RGD
Cytogenetic Map2p12UniSTS
HuRef275,514,753 - 75,515,034UniSTS
TNG Radiation Hybrid Map248553.0UniSTS
WI-15805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37275,720,755 - 75,720,879UniSTSGRCh37
Build 36275,574,263 - 75,574,387RGDNCBI36
Celera275,552,051 - 75,552,175RGD
Cytogenetic Map2p12UniSTS
HuRef275,458,677 - 75,458,801UniSTS
GeneMap99-GB4 RH Map2232.91UniSTS
Whitehead-RH Map2322.3UniSTS
RH1524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376161,174,089 - 161,174,271UniSTSGRCh37
GRCh376160,874,279 - 160,874,461UniSTSGRCh37
Build 366160,794,269 - 160,794,451RGDNCBI36
Celera6161,525,751 - 161,525,933RGD
Celera6161,893,067 - 161,893,249UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6q26UniSTS
HuRef6158,348,882 - 158,349,064UniSTS
HuRef6158,619,056 - 158,619,238UniSTS
GeneMap99-GB4 RH Map6624.28UniSTS
NCBI RH Map61631.6UniSTS
RH48425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37275,785,659 - 75,785,824UniSTSGRCh37
Build 36275,639,167 - 75,639,332RGDNCBI36
Celera275,616,953 - 75,617,118RGD
Cytogenetic Map2p12UniSTS
HuRef275,523,493 - 75,523,658UniSTS
GeneMap99-GB4 RH Map2239.56UniSTS


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 50 455 419 135 421 113 19 57 265 191 514 6 1 8 2
Low 759 389 982 188 402 36 2466 367 1134 120 1059 1040 154 1 709 1376 2 2
Below cutoff 1570 2132 280 16 700 6 1657 1762 2335 32 193 33 11 488 1290

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW016395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX882890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE892427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF247750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP276065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000233712   ⟹   ENSP00000233712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,492,318 - 75,569,722 (-)Ensembl
RefSeq Acc Id: ENST00000393913   ⟹   ENSP00000377490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,492,318 - 75,560,939 (-)Ensembl
RefSeq Acc Id: ENST00000410010   ⟹   ENSP00000386835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,493,074 - 75,517,972 (-)Ensembl
RefSeq Acc Id: ENST00000410071   ⟹   ENSP00000386930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,493,151 - 75,561,298 (-)Ensembl
RefSeq Acc Id: ENST00000410113   ⟹   ENSP00000386435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,492,486 - 75,560,938 (-)Ensembl
RefSeq Acc Id: ENST00000432649   ⟹   ENSP00000398249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,493,267 - 75,561,329 (-)Ensembl
RefSeq Acc Id: ENST00000452003   ⟹   ENSP00000388105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,493,392 - 75,518,703 (-)Ensembl
RefSeq Acc Id: ENST00000485891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,469,302 - 75,560,936 (-)Ensembl
RefSeq Acc Id: ENST00000486489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,558,483 - 75,561,323 (-)Ensembl
RefSeq Acc Id: ENST00000486696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,518,058 - 75,569,698 (-)Ensembl
RefSeq Acc Id: ENST00000490746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl275,469,302 - 75,560,923 (-)Ensembl
RefSeq Acc Id: NM_001135032   ⟹   NP_001128504
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38275,492,318 - 75,560,939 (-)NCBI
GRCh37275,719,444 - 75,796,848 (-)RGD
Celera275,550,740 - 75,628,141 (-)RGD
HuRef275,457,364 - 75,534,681 (-)RGD
CHM1_1275,648,737 - 75,717,372 (-)NCBI
T2T-CHM13v2.0275,501,601 - 75,570,248 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369524   ⟹   NP_001356453
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38275,492,318 - 75,561,329 (-)NCBI
T2T-CHM13v2.0275,501,601 - 75,570,638 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369525   ⟹   NP_001356454
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38275,492,318 - 75,560,939 (-)NCBI
T2T-CHM13v2.0275,501,601 - 75,570,248 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032181   ⟹   NP_115557
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38275,492,318 - 75,569,719 (-)NCBI
GRCh37275,719,444 - 75,796,848 (-)RGD
Build 36275,572,952 - 75,650,356 (-)NCBI Archive
Celera275,550,740 - 75,628,141 (-)RGD
HuRef275,457,364 - 75,534,681 (-)RGD
CHM1_1275,648,737 - 75,726,128 (-)NCBI
T2T-CHM13v2.0275,501,601 - 75,579,027 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_115557   ⟸   NM_032181
- UniProtKB: D6W5J3 (UniProtKB/Swiss-Prot),   Q9HC41 (UniProtKB/Swiss-Prot),   Q9H8M9 (UniProtKB/Swiss-Prot),   C9J5M4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128504   ⟸   NM_001135032
- UniProtKB: D6W5J3 (UniProtKB/Swiss-Prot),   Q9HC41 (UniProtKB/Swiss-Prot),   Q9H8M9 (UniProtKB/Swiss-Prot),   C9J5M4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356453   ⟸   NM_001369524
- UniProtKB: Q9H8M9 (UniProtKB/Swiss-Prot),   D6W5J3 (UniProtKB/Swiss-Prot),   Q9HC41 (UniProtKB/Swiss-Prot),   C9J5M4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356454   ⟸   NM_001369525
- UniProtKB: Q9H8M9 (UniProtKB/Swiss-Prot),   D6W5J3 (UniProtKB/Swiss-Prot),   Q9HC41 (UniProtKB/Swiss-Prot),   C9J5M4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000386930   ⟸   ENST00000410071
RefSeq Acc Id: ENSP00000386835   ⟸   ENST00000410010
RefSeq Acc Id: ENSP00000386435   ⟸   ENST00000410113
RefSeq Acc Id: ENSP00000388105   ⟸   ENST00000452003
RefSeq Acc Id: ENSP00000233712   ⟸   ENST00000233712
RefSeq Acc Id: ENSP00000398249   ⟸   ENST00000432649
RefSeq Acc Id: ENSP00000377490   ⟸   ENST00000393913
Protein Domains
EVA1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H8M9-F1-model_v2 AlphaFold Q9H8M9 1-152 view protein structure

Promoters
RGD ID:6860818
Promoter ID:EPDNEW_H3574
Type:single initiation site
Name:EVA1A_2
Description:eva-1 homolog A, regulator of programmed cell death
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3575  EPDNEW_H3576  EPDNEW_H3578  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38275,559,715 - 75,559,775EPDNEW
RGD ID:6860820
Promoter ID:EPDNEW_H3575
Type:initiation region
Name:EVA1A_1
Description:eva-1 homolog A, regulator of programmed cell death
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3574  EPDNEW_H3576  EPDNEW_H3578  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38275,560,936 - 75,560,996EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25816 AgrOrtholog
COSMIC EVA1A COSMIC
Ensembl Genes ENSG00000115363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000233712 ENTREZGENE
  ENST00000233712.5 UniProtKB/Swiss-Prot
  ENST00000393913 ENTREZGENE
  ENST00000393913.8 UniProtKB/Swiss-Prot
  ENST00000410010.1 UniProtKB/TrEMBL
  ENST00000410071.5 UniProtKB/Swiss-Prot
  ENST00000410113 ENTREZGENE
  ENST00000410113.5 UniProtKB/Swiss-Prot
  ENST00000432649 ENTREZGENE
  ENST00000432649.5 UniProtKB/TrEMBL
  ENST00000452003.1 UniProtKB/TrEMBL
GTEx ENSG00000115363 GTEx
HGNC ID HGNC:25816 ENTREZGENE
Human Proteome Map EVA1A Human Proteome Map
InterPro EVA1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84141 UniProtKB/Swiss-Prot
NCBI Gene 84141 ENTREZGENE
OMIM 618990 OMIM
PANTHER PROTEIN EVA-1 HOMOLOG A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN EVA-1 HOMOLOG B-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162387354 PharmGKB
UniProt B8ZZF5_HUMAN UniProtKB/TrEMBL
  C9J5M4 ENTREZGENE, UniProtKB/TrEMBL
  C9JX09_HUMAN UniProtKB/TrEMBL
  D6W5J3 ENTREZGENE
  EVA1A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9HC41 ENTREZGENE
UniProt Secondary D6W5J3 UniProtKB/Swiss-Prot
  Q9HC41 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 EVA1A  eva-1 homolog A, regulator of programmed cell death    eva-1 homolog A (C. elegans)  Symbol and/or name change 5135510 APPROVED
2012-11-15 EVA1A  eva-1 homolog A (C. elegans)  FAM176A  family with sequence similarity 176, member A  Symbol and/or name change 5135510 APPROVED