ELOVL5 (ELOVL fatty acid elongase 5) - Rat Genome Database

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Gene: ELOVL5 (ELOVL fatty acid elongase 5) Homo sapiens
Analyze
Symbol: ELOVL5
Name: ELOVL fatty acid elongase 5
RGD ID: 1353049
HGNC Page HGNC:21308
Description: Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and positive regulation of fatty acid biosynthetic process. Located in dendritic tree; endoplasmic reticulum; and neuronal cell body. Implicated in spinocerebellar ataxia type 38.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3-keto acyl-CoA synthase ELOVL5; dJ483K16.1; elongation of very long chain fatty acids protein 5; ELOVL FA elongase 5; ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast); fatty acid elongase 1; HELO1; homolog of yeast long chain polyunsaturated fatty acid elongatio; homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2; RP3-483K16.1; SCA38; spinocerebellar ataxia 38; very long chain 3-ketoacyl-CoA synthase 5; very long chain 3-oxoacyl-CoA synthase 5; very long chain fatty acid elongase 5; very-long-chain 3-oxoacyl-CoA synthase 5
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
GRCh38653,267,404 - 53,348,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl653,267,398 - 53,349,179 (-)EnsemblGRCh38hg38GRCh38
GRCh37653,132,202 - 53,213,748 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36653,240,155 - 53,321,901 (-)NCBINCBI36Build 36hg18NCBI36
Build 34653,240,154 - 53,321,901NCBI
Celera654,794,435 - 54,876,099 (-)NCBICelera
Cytogenetic Map6p12.1NCBI
HuRef652,964,031 - 53,045,647 (-)NCBIHuRef
CHM1_1653,134,061 - 53,215,737 (-)NCBICHM1_1
T2T-CHM13v2.0653,107,162 - 53,188,820 (-)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->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (EXP)
acetylsalicylic acid  (EXP)
acrylamide  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buspirone  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlormequat chloride  (ISO)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
Di-n-hexyl phthalate  (EXP)
diarsenic trioxide  (EXP)
dibenzofurans  (ISO)
Dibutyl phosphate  (EXP)
dichloroacetic acid  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
fentin chloride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (EXP)
GW 4064  (EXP)
GW 7647  (EXP)
hydroquinone  (EXP)
indometacin  (EXP,ISO)
inulin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (EXP)
levofloxacin  (ISO)
levonorgestrel  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
mitoxantrone  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
oleic acid  (EXP)
ozone  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium dichromate  (ISO)
testosterone undecanoate  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype 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. Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids. Leonard AE, etal., Biochem J 2000 Sep 15;350 Pt 3:765-70.
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. (-)-Epigallocatechin-3-Gallate Ameliorates Atherosclerosis and Modulates Hepatic Lipid Metabolic Gene Expression in Apolipoprotein E Knockout Mice: Involvement of TTC39B. Wang W, etal., Front Pharmacol. 2018 Mar 9;9:195. doi: 10.3389/fphar.2018.00195. eCollection 2018.
Additional References at PubMed
PMID:8619474   PMID:8944226   PMID:9110174   PMID:11230166   PMID:12371743   PMID:12477932   PMID:14574404   PMID:14636670   PMID:14702039   PMID:15489334   PMID:16273301   PMID:16303743  
PMID:16344560   PMID:17207965   PMID:17286855   PMID:18660489   PMID:19322201   PMID:19946888   PMID:20301317   PMID:20363506   PMID:20379614   PMID:20427700   PMID:20937905   PMID:21383846  
PMID:21508110   PMID:21873635   PMID:22293571   PMID:23099444   PMID:23749231   PMID:24167612   PMID:25065913   PMID:26321664   PMID:26433464   PMID:26496610   PMID:27173435   PMID:28190767  
PMID:28245901   PMID:28298427   PMID:28514442   PMID:28931069   PMID:29615496   PMID:30291282   PMID:30585266   PMID:30833792   PMID:30914501   PMID:31182584   PMID:31294938   PMID:31871319  
PMID:32031713   PMID:32296183   PMID:33060197   PMID:33547161   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34186245   PMID:35271311   PMID:35439318   PMID:35670054   PMID:35696571  
PMID:35850772   PMID:35944360   PMID:36056008   PMID:36215168   PMID:37774976   PMID:38569033  


Genomics

Comparative Map Data
ELOVL5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38653,267,404 - 53,348,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl653,267,398 - 53,349,179 (-)EnsemblGRCh38hg38GRCh38
GRCh37653,132,202 - 53,213,748 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36653,240,155 - 53,321,901 (-)NCBINCBI36Build 36hg18NCBI36
Build 34653,240,154 - 53,321,901NCBI
Celera654,794,435 - 54,876,099 (-)NCBICelera
Cytogenetic Map6p12.1NCBI
HuRef652,964,031 - 53,045,647 (-)NCBIHuRef
CHM1_1653,134,061 - 53,215,737 (-)NCBICHM1_1
T2T-CHM13v2.0653,107,162 - 53,188,820 (-)NCBIT2T-CHM13v2.0
Elovl5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39977,824,647 - 77,891,801 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl977,824,646 - 77,891,801 (+)EnsemblGRCm39 Ensembl
GRCm38977,917,365 - 77,984,519 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl977,917,364 - 77,984,519 (+)EnsemblGRCm38mm10GRCm38
MGSCv37977,765,172 - 77,832,326 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36977,703,052 - 77,770,197 (+)NCBIMGSCv36mm8
Celera975,090,915 - 75,160,354 (+)NCBICelera
Cytogenetic Map9E1NCBI
cM Map943.36NCBI
Elovl5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8887,671,164 - 87,737,618 (+)NCBIGRCr8
mRatBN7.2878,790,846 - 78,857,307 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl878,790,846 - 78,857,284 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx884,316,763 - 84,342,848 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0882,593,410 - 82,619,495 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0880,416,122 - 80,442,207 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0885,220,941 - 85,287,449 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl885,259,982 - 85,285,983 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0884,786,562 - 84,853,064 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4882,922,551 - 82,948,348 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1882,941,604 - 82,967,402 (+)NCBI
Celera878,575,885 - 78,600,766 (+)NCBICelera
Cytogenetic Map8q31NCBI
Elovl5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554112,747,232 - 2,812,544 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554112,747,232 - 2,812,544 (+)NCBIChiLan1.0ChiLan1.0
ELOVL5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2567,738,260 - 67,818,363 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1663,614,887 - 63,694,873 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0652,822,038 - 52,902,122 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1654,457,569 - 54,537,648 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl654,451,887 - 54,485,878 (-)Ensemblpanpan1.1panPan2
ELOVL5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11220,732,641 - 20,807,748 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1220,734,282 - 20,807,739 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1220,629,994 - 20,705,080 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01221,233,696 - 21,308,436 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1221,233,725 - 21,308,442 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11220,735,219 - 20,810,057 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01220,843,290 - 20,918,321 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01220,980,845 - 21,055,936 (-)NCBIUU_Cfam_GSD_1.0
Elovl5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494656,341,932 - 56,423,606 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364767,536,635 - 7,618,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELOVL5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl746,860,770 - 46,932,926 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1746,860,768 - 46,932,945 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ELOVL5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11719,227,209 - 19,305,789 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1719,277,593 - 19,307,625 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604453,118,840 - 53,197,198 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Elovl5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624850522,018 - 597,469 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624850523,059 - 598,135 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ELOVL5
109 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) single nucleotide variant Spinocerebellar ataxia type 38 [RCV000133587] Chr6:53270660 [GRCh38]
Chr6:53135458 [GRCh37]
Chr6:6p12.1		 pathogenic
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) single nucleotide variant Spinocerebellar ataxia type 38 [RCV000133588] Chr6:53291808 [GRCh38]
Chr6:53156606 [GRCh37]
Chr6:6p12.1		 pathogenic
GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 copy number loss See cases [RCV000134922] Chr6:50971182..57432788 [GRCh38]
Chr6:50938895..57297586 [GRCh37]
Chr6:51046854..57405545 [NCBI36]
Chr6:6p12.3-11.2		 pathogenic
GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4 copy number gain See cases [RCV000137095] Chr6:51093754..53859634 [GRCh38]
Chr6:51061467..53724432 [GRCh37]
Chr6:51169426..53832391 [NCBI36]
Chr6:6p12.3-12.1		 pathogenic
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1		 pathogenic|uncertain significance
NM_021814.5(ELOVL5):c.757-40_757-37dup duplication not provided [RCV000202372] Chr6:53269306..53269307 [GRCh38]
Chr6:53134104..53134105 [GRCh37]
Chr6:6p12.1		 benign|not provided
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys) single nucleotide variant Spinocerebellar ataxia type 38 [RCV001270037]|not provided [RCV000898740]|not specified [RCV000194832] Chr6:53270651 [GRCh38]
Chr6:53135449 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_021814.5(ELOVL5):c.496+84T>G single nucleotide variant not provided [RCV002284714] Chr6:53275006 [GRCh38]
Chr6:53139804 [GRCh37]
Chr6:6p12.1		 likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_021814.5(ELOVL5):c.533T>C (p.Val178Ala) single nucleotide variant Inborn genetic diseases [RCV003258065] Chr6:53273308 [GRCh38]
Chr6:53138106 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p12.1(chr6:53140682-53278029)x1 copy number loss not provided [RCV000682671] Chr6:53140682..53278029 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_021814.5(ELOVL5):c.324+217C>T single nucleotide variant not provided [RCV001668711] Chr6:53275962 [GRCh38]
Chr6:53140760 [GRCh37]
Chr6:6p12.1		 benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_021814.5(ELOVL5):c.324+25TAT[4] microsatellite not provided [RCV002284757] Chr6:53276145..53276146 [GRCh38]
Chr6:53140943..53140944 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.246+3891C>T single nucleotide variant ELOVL5-related disorder [RCV004758732]|Spinocerebellar ataxia type 38 [RCV000851529]|not provided [RCV001813804] Chr6:53287885 [GRCh38]
Chr6:53152683 [GRCh37]
Chr6:6p12.1		 benign|likely benign|not provided
GRCh37/hg19 6p12.1(chr6:53113873-53385343)x1 copy number loss not provided [RCV000846245] Chr6:53113873..53385343 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.757-97_757-96insAAAAG insertion not provided [RCV001652139] Chr6:53269366..53269367 [GRCh38]
Chr6:53134164..53134165 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.621+299_621+308del deletion not provided [RCV001694003] Chr6:53272912..53272921 [GRCh38]
Chr6:53137710..53137719 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.757-233T>C single nucleotide variant not provided [RCV001717551] Chr6:53269503 [GRCh38]
Chr6:53134301 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.246+3859C>G single nucleotide variant Spinocerebellar ataxia type 38 [RCV002470506] Chr6:53287917 [GRCh38]
Chr6:53152715 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.58+893G>A single nucleotide variant not provided [RCV001639059] Chr6:53294749 [GRCh38]
Chr6:53159547 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.58+57C>A single nucleotide variant not provided [RCV001717326] Chr6:53295585 [GRCh38]
Chr6:53160383 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.246+3816T>C single nucleotide variant not provided [RCV001718305] Chr6:53287960 [GRCh38]
Chr6:53152758 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.58+1207C>T single nucleotide variant ELOVL5-related disorder [RCV003968496]|not provided [RCV001710047] Chr6:53294435 [GRCh38]
Chr6:53159233 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.497-62del deletion not provided [RCV001598729] Chr6:53273406 [GRCh38]
Chr6:53138204 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.58+207A>T single nucleotide variant not provided [RCV001599083] Chr6:53295435 [GRCh38]
Chr6:53160233 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.58+96G>A single nucleotide variant not provided [RCV001636326] Chr6:53295546 [GRCh38]
Chr6:53160344 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.246+3932C>T single nucleotide variant not provided [RCV001636163] Chr6:53287844 [GRCh38]
Chr6:53152642 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.325-102C>T single nucleotide variant not provided [RCV001683941] Chr6:53275363 [GRCh38]
Chr6:53140161 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.860del (p.Leu287fs) deletion not provided [RCV001171862] Chr6:53269167 [GRCh38]
Chr6:53133965 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.324+49A>T single nucleotide variant not provided [RCV001714018] Chr6:53276130 [GRCh38]
Chr6:53140928 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.247-150T>G single nucleotide variant not provided [RCV001707962] Chr6:53276406 [GRCh38]
Chr6:53141204 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.58+1350C>A single nucleotide variant not provided [RCV001538080] Chr6:53294292 [GRCh38]
Chr6:53159090 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.246+3729A>C single nucleotide variant not provided [RCV001652223] Chr6:53288047 [GRCh38]
Chr6:53152845 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys) single nucleotide variant Inborn genetic diseases [RCV002561062]|Spinocerebellar ataxia type 38 [RCV001198538] Chr6:53273264 [GRCh38]
Chr6:53138062 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.8A>G (p.His3Arg) single nucleotide variant not provided [RCV001091111] Chr6:53295692 [GRCh38]
Chr6:53160490 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu) single nucleotide variant Spinocerebellar ataxia type 38 [RCV001264794] Chr6:53291787 [GRCh38]
Chr6:53156585 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1 copy number loss See cases [RCV001263045] Chr6:48626041..55575545 [GRCh37]
Chr6:6p12.3-12.1		 likely pathogenic
NM_021814.5(ELOVL5):c.790G>A (p.Asp264Asn) single nucleotide variant Inborn genetic diseases [RCV001266719] Chr6:53269237 [GRCh38]
Chr6:53134035 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3 copy number gain not provided [RCV001258723] Chr6:52657712..53622715 [GRCh37]
Chr6:6p12.2-12.1		 uncertain significance
NM_021814.5(ELOVL5):c.536T>G (p.Leu179Arg) single nucleotide variant not provided [RCV001357492] Chr6:53273305 [GRCh38]
Chr6:53138103 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.497-118C>T single nucleotide variant not provided [RCV001671200] Chr6:53273462 [GRCh38]
Chr6:53138260 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.58+1041A>G single nucleotide variant not provided [RCV001671253] Chr6:53294601 [GRCh38]
Chr6:53159399 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.58+864A>G single nucleotide variant not provided [RCV001654582] Chr6:53294778 [GRCh38]
Chr6:53159576 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.246+110T>G single nucleotide variant not provided [RCV001655034] Chr6:53291666 [GRCh38]
Chr6:53156464 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.59-169C>T single nucleotide variant not provided [RCV002244324] Chr6:53292132 [GRCh38]
Chr6:53156930 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.757-181dup duplication not provided [RCV001779755] Chr6:53269450..53269451 [GRCh38]
Chr6:53134248..53134249 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.861G>T (p.Leu287=) single nucleotide variant not provided [RCV001766322] Chr6:53269166 [GRCh38]
Chr6:53133964 [GRCh37]
Chr6:6p12.1		 benign|likely benign
NM_021814.5(ELOVL5):c.497-63_497-62del deletion not provided [RCV001779718] Chr6:53273406..53273407 [GRCh38]
Chr6:53138204..53138205 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.246+4089C>T single nucleotide variant not provided [RCV001779885] Chr6:53287687 [GRCh38]
Chr6:53152485 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser) single nucleotide variant Spinocerebellar ataxia type 38 [RCV001849222] Chr6:53275096 [GRCh38]
Chr6:53139894 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.*77A>G single nucleotide variant not provided [RCV001843611] Chr6:53269050 [GRCh38]
Chr6:53133848 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.622-12C>T single nucleotide variant not provided [RCV002034842] Chr6:53270739 [GRCh38]
Chr6:53135537 [GRCh37]
Chr6:6p12.1		 benign|likely benign
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_021814.5(ELOVL5):c.246+3863C>G single nucleotide variant not provided [RCV002286112] Chr6:53287913 [GRCh38]
Chr6:53152711 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.324+32A>G single nucleotide variant not provided [RCV002286290] Chr6:53276147 [GRCh38]
Chr6:53140945 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.889_890dup (p.Lys298fs) duplication not specified [RCV002282922] Chr6:53269136..53269137 [GRCh38]
Chr6:53133934..53133935 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.692G>T (p.Trp231Leu) single nucleotide variant Spinocerebellar ataxia type 38 [RCV002283916] Chr6:53270657 [GRCh38]
Chr6:53135455 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.58+1262G>A single nucleotide variant Myoepithelial tumor [RCV002463909] Chr6:53294380 [GRCh38]
Chr6:53159178 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2 copy number loss Orofacial cleft [RCV002481089] Chr6:55755662..55874865 [GRCh38]
Chr6:6p12.1-11.2		 uncertain significance
NM_021814.5(ELOVL5):c.331C>T (p.Arg111Cys) single nucleotide variant not provided [RCV002616902] Chr6:53275255 [GRCh38]
Chr6:53140053 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.586C>G (p.Leu196Val) single nucleotide variant not provided [RCV002843682] Chr6:53273255 [GRCh38]
Chr6:53138053 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.351C>T (p.Tyr117=) single nucleotide variant not provided [RCV002800365] Chr6:53275235 [GRCh38]
Chr6:53140033 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.551A>G (p.Tyr184Cys) single nucleotide variant not provided [RCV002927691] Chr6:53273290 [GRCh38]
Chr6:53138088 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.319A>G (p.Met107Val) single nucleotide variant not provided [RCV002923616] Chr6:53276184 [GRCh38]
Chr6:53140982 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.430G>A (p.Val144Ile) single nucleotide variant not provided [RCV002979512] Chr6:53275156 [GRCh38]
Chr6:53139954 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.324+12T>C single nucleotide variant not provided [RCV002781172] Chr6:53276167 [GRCh38]
Chr6:53140965 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.132A>G (p.Leu44=) single nucleotide variant not provided [RCV003020236] Chr6:53291890 [GRCh38]
Chr6:53156688 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.157A>G (p.Met53Val) single nucleotide variant Inborn genetic diseases [RCV002757825] Chr6:53291865 [GRCh38]
Chr6:53156663 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.325-5C>T single nucleotide variant not provided [RCV002875573] Chr6:53275266 [GRCh38]
Chr6:53140064 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.602A>G (p.Tyr201Cys) single nucleotide variant not provided [RCV003022486] Chr6:53273239 [GRCh38]
Chr6:53138037 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.871G>A (p.Val291Met) single nucleotide variant not provided [RCV002958990] Chr6:53269156 [GRCh38]
Chr6:53133954 [GRCh37]
Chr6:6p12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_021814.5(ELOVL5):c.779C>T (p.Ser260Phe) single nucleotide variant Inborn genetic diseases [RCV002713122] Chr6:53269248 [GRCh38]
Chr6:53134046 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.842C>T (p.Thr281Ile) single nucleotide variant not provided [RCV002575690] Chr6:53269185 [GRCh38]
Chr6:53133983 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.304G>T (p.Ala102Ser) single nucleotide variant Inborn genetic diseases [RCV002709807] Chr6:53276199 [GRCh38]
Chr6:53140997 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.247-19G>T single nucleotide variant not provided [RCV002594831] Chr6:53276275 [GRCh38]
Chr6:53141073 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.663C>T (p.Val221=) single nucleotide variant not provided [RCV002872035] Chr6:53270686 [GRCh38]
Chr6:53135484 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.771A>G (p.Lys257=) single nucleotide variant not provided [RCV002800867] Chr6:53269256 [GRCh38]
Chr6:53134054 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.59-11dup duplication not provided [RCV002790163] Chr6:53291973..53291974 [GRCh38]
Chr6:53156771..53156772 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.325-13C>T single nucleotide variant not provided [RCV002575582] Chr6:53275274 [GRCh38]
Chr6:53140072 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.361C>T (p.Leu121Phe) single nucleotide variant not provided [RCV002575473] Chr6:53275225 [GRCh38]
Chr6:53140023 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.805C>T (p.His269Tyr) single nucleotide variant not provided [RCV002626863] Chr6:53269222 [GRCh38]
Chr6:53134020 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.334G>A (p.Val112Ile) single nucleotide variant Inborn genetic diseases [RCV002893435] Chr6:53275252 [GRCh38]
Chr6:53140050 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.59-11T>A single nucleotide variant not provided [RCV002601041] Chr6:53291974 [GRCh38]
Chr6:53156772 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.531C>T (p.His177=) single nucleotide variant not provided [RCV002961931] Chr6:53273310 [GRCh38]
Chr6:53138108 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.472A>T (p.Met158Leu) single nucleotide variant Inborn genetic diseases [RCV002714299] Chr6:53275114 [GRCh38]
Chr6:53139912 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.496+15C>T single nucleotide variant not provided [RCV002601064] Chr6:53275075 [GRCh38]
Chr6:53139873 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.184C>T (p.Arg62Trp) single nucleotide variant Inborn genetic diseases [RCV002673128] Chr6:53291838 [GRCh38]
Chr6:53156636 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.782G>A (p.Arg261Gln) single nucleotide variant not provided [RCV002582359] Chr6:53269245 [GRCh38]
Chr6:53134043 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.382T>C (p.Phe128Leu) single nucleotide variant Inborn genetic diseases [RCV003250773]|not provided [RCV002585047] Chr6:53275204 [GRCh38]
Chr6:53140002 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.303C>T (p.Thr101=) single nucleotide variant not provided [RCV002613152] Chr6:53276200 [GRCh38]
Chr6:53140998 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.803A>G (p.Asp268Gly) single nucleotide variant not provided [RCV002653267] Chr6:53269224 [GRCh38]
Chr6:53134022 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.149C>A (p.Pro50Gln) single nucleotide variant not provided [RCV003071117] Chr6:53291873 [GRCh38]
Chr6:53156671 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.694T>C (p.Leu232=) single nucleotide variant Spinocerebellar ataxia type 38 [RCV003147040] Chr6:53270655 [GRCh38]
Chr6:53135453 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.332G>A (p.Arg111His) single nucleotide variant Spinocerebellar ataxia type 38 [RCV003147041]|not provided [RCV003738375] Chr6:53275254 [GRCh38]
Chr6:53140052 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.702C>A (p.Phe234Leu) single nucleotide variant not provided [RCV003322245] Chr6:53270647 [GRCh38]
Chr6:53135445 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.578G>A (p.Arg193His) single nucleotide variant Inborn genetic diseases [RCV003341248] Chr6:53273263 [GRCh38]
Chr6:53138061 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.856C>A (p.Pro286Thr) single nucleotide variant Inborn genetic diseases [RCV003381391] Chr6:53269171 [GRCh38]
Chr6:53133969 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1 copy number loss not provided [RCV003485511] Chr6:50181657..55538355 [GRCh37]
Chr6:6p12.3-12.1		 pathogenic
GRCh37/hg19 6p12.1(chr6:53118769-53380140)x1 copy number loss not provided [RCV003485512] Chr6:53118769..53380140 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.247-20G>A single nucleotide variant not provided [RCV003691271] Chr6:53276276 [GRCh38]
Chr6:53141074 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.246+3865G>T single nucleotide variant not provided [RCV003436591] Chr6:53287911 [GRCh38]
Chr6:53152709 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.97A>T (p.Ile33Leu) single nucleotide variant Inborn genetic diseases [RCV004364613]|not provided [RCV003436593] Chr6:53291925 [GRCh38]
Chr6:53156723 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.190A>T (p.Ile64Phe) single nucleotide variant not provided [RCV003436592] Chr6:53291832 [GRCh38]
Chr6:53156630 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.185G>A (p.Arg62Gln) single nucleotide variant not provided [RCV003879043] Chr6:53291837 [GRCh38]
Chr6:53156635 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.539T>G (p.Met180Arg) single nucleotide variant not provided [RCV003687284] Chr6:53273302 [GRCh38]
Chr6:53138100 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.30C>T (p.Thr10=) single nucleotide variant not provided [RCV003830080] Chr6:53295670 [GRCh38]
Chr6:53160468 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.96T>C (p.Tyr32=) single nucleotide variant not provided [RCV003827540] Chr6:53291926 [GRCh38]
Chr6:53156724 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.123A>G (p.Ile41Met) single nucleotide variant Inborn genetic diseases [RCV004371814]|not provided [RCV003695620] Chr6:53291899 [GRCh38]
Chr6:53156697 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.532G>A (p.Val178Ile) single nucleotide variant Inborn genetic diseases [RCV004369076]|not provided [RCV003545850] Chr6:53273309 [GRCh38]
Chr6:53138107 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.247-15_247-14delinsGC indel not provided [RCV003882529] Chr6:53276270..53276271 [GRCh38]
Chr6:53141068..53141069 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.780C>T (p.Ser260=) single nucleotide variant not provided [RCV003545918] Chr6:53269247 [GRCh38]
Chr6:53134045 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.420G>A (p.Thr140=) single nucleotide variant not provided [RCV003547637] Chr6:53275166 [GRCh38]
Chr6:53139964 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.565G>C (p.Val189Leu) single nucleotide variant not provided [RCV003812074] Chr6:53273276 [GRCh38]
Chr6:53138074 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.325A>C (p.Ile109Leu) single nucleotide variant not provided [RCV003849883] Chr6:53275261 [GRCh38]
Chr6:53140059 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.247-12C>G single nucleotide variant not provided [RCV003816448] Chr6:53276268 [GRCh38]
Chr6:53141066 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.310G>C (p.Glu104Gln) single nucleotide variant not provided [RCV003668891] Chr6:53276193 [GRCh38]
Chr6:53140991 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.672G>A (p.Pro224=) single nucleotide variant not provided [RCV003728558] Chr6:53270677 [GRCh38]
Chr6:53135475 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.109A>T (p.Ile37Phe) single nucleotide variant not provided [RCV003869468] Chr6:53291913 [GRCh38]
Chr6:53156711 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.658G>A (p.Gly220Arg) single nucleotide variant not provided [RCV003684422] Chr6:53270691 [GRCh38]
Chr6:53135489 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.496+8T>C single nucleotide variant not provided [RCV003732667] Chr6:53275082 [GRCh38]
Chr6:53139880 [GRCh37]
Chr6:6p12.1		 likely benign
NM_021814.5(ELOVL5):c.756+2T>C single nucleotide variant not provided [RCV003542771] Chr6:53270591 [GRCh38]
Chr6:53135389 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.640A>G (p.Ile214Val) single nucleotide variant not provided [RCV003727201] Chr6:53270709 [GRCh38]
Chr6:53135507 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.320T>A (p.Met107Lys) single nucleotide variant not provided [RCV003704259] Chr6:53276183 [GRCh38]
Chr6:53140981 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.670C>T (p.Pro224Ser) single nucleotide variant not provided [RCV003731619] Chr6:53270679 [GRCh38]
Chr6:53135477 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.58+1229A>G single nucleotide variant ELOVL5-related disorder [RCV003964291] Chr6:53294413 [GRCh38]
Chr6:53159211 [GRCh37]
Chr6:6p12.1		 benign
NM_021814.5(ELOVL5):c.568C>T (p.Pro190Ser) single nucleotide variant Inborn genetic diseases [RCV004380386] Chr6:53273273 [GRCh38]
Chr6:53138071 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.246+3853G>A single nucleotide variant Inborn genetic diseases [RCV004380384] Chr6:53287923 [GRCh38]
Chr6:53152721 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.310G>A (p.Glu104Lys) single nucleotide variant Inborn genetic diseases [RCV004380385] Chr6:53276193 [GRCh38]
Chr6:53140991 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.889C>T (p.Arg297Trp) single nucleotide variant Inborn genetic diseases [RCV004624826] Chr6:53269138 [GRCh38]
Chr6:53133936 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.62C>T (p.Thr21Ile) single nucleotide variant Inborn genetic diseases [RCV004624827] Chr6:53291960 [GRCh38]
Chr6:53156758 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.92A>G (p.Asn31Ser) single nucleotide variant Inborn genetic diseases [RCV004624828] Chr6:53291930 [GRCh38]
Chr6:53156728 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_021814.5(ELOVL5):c.324+1G>A single nucleotide variant not specified [RCV004766929] Chr6:53276178 [GRCh38]
Chr6:53140976 [GRCh37]
Chr6:6p12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2282
Count of miRNA genes:744
Interacting mature miRNAs:862
Transcripts:ENST00000304434, ENST00000370913, ENST00000370918, ENST00000465983, ENST00000485336, ENST00000486973, ENST00000541407, ENST00000542638
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407069783GWAS718759_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS718759 (human)0.000005squamous cell lung carcinoma, family history of lung cancer65334547453345475Human
407219997GWAS868973_Hlymphocyte count QTL GWAS868973 (human)6e-17lymphocyte countblood lymphocyte count (CMO:0000031)65327171853271719Human
407252799GWAS901775_Hlymphocyte count QTL GWAS901775 (human)4e-20lymphocyte countblood lymphocyte count (CMO:0000031)65327171853271719Human
407365036GWAS1014012_Hmetastasis measurement, survival time, colorectal cancer QTL GWAS1014012 (human)8e-10metastasis measurement, survival time, colorectal cancer65331288053312881Human
407037689GWAS686665_Hmean platelet volume QTL GWAS686665 (human)2e-12mean platelet volumemean platelet volume (CMO:0001348)65334265253342653Human
407019417GWAS668393_Hmean platelet volume QTL GWAS668393 (human)3e-16mean platelet volumemean platelet volume (CMO:0001348)65334326053343261Human
407309307GWAS958283_Hhemoglobin A1 measurement QTL GWAS958283 (human)3e-12hemoglobin A1 measurement65327340553273406Human
407298587GWAS947563_Hlymphocyte count QTL GWAS947563 (human)3e-12lymphocyte countblood lymphocyte count (CMO:0000031)65327171853271719Human
407365034GWAS1014010_Hmetastasis measurement, survival time, colorectal cancer QTL GWAS1014010 (human)4e-09metastasis measurement, survival time, colorectal cancer65331288053312881Human
407013724GWAS662700_Hmean platelet volume QTL GWAS662700 (human)8e-14mean platelet volumemean platelet volume (CMO:0001348)65334635353346354Human

Markers in Region
D6S1213E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,133,197 - 53,133,324UniSTSGRCh37
Build 36653,241,156 - 53,241,283RGDNCBI36
Celera654,795,436 - 54,795,563RGD
Cytogenetic Map6p21.1-p12.1UniSTS
HuRef652,965,032 - 52,965,159UniSTS
GeneMap99-GB4 RH Map6202.63UniSTS
D6S2076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,132,400 - 53,132,507UniSTSGRCh37
Build 36653,240,359 - 53,240,466RGDNCBI36
Celera654,794,639 - 54,794,746RGD
Cytogenetic Map6p21.1-p12.1UniSTS
HuRef652,964,235 - 52,964,342UniSTS
Stanford-G3 RH Map62827.0UniSTS
NCBI RH Map6713.5UniSTS
GeneMap99-G3 RH Map62959.0UniSTS
AL035167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,161,040 - 53,161,173UniSTSGRCh37
Build 36653,268,999 - 53,269,132RGDNCBI36
Celera654,823,268 - 54,823,401RGD
Cytogenetic Map6p21.1-p12.1UniSTS
HuRef652,992,861 - 52,992,994UniSTS
RH102363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,159,131 - 53,159,286UniSTSGRCh37
Build 36653,267,090 - 53,267,245RGDNCBI36
Celera654,821,359 - 54,821,514RGD
Cytogenetic Map6p21.1-p12.1UniSTS
HuRef652,990,952 - 52,991,107UniSTS
GeneMap99-GB4 RH Map6206.94UniSTS
SGC32472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,157,082 - 53,157,206UniSTSGRCh37
Build 36653,265,041 - 53,265,165RGDNCBI36
Celera654,819,310 - 54,819,434RGD
Cytogenetic Map6p21.1-p12.1UniSTS
HuRef652,988,903 - 52,989,027UniSTS
GeneMap99-GB4 RH Map6209.44UniSTS
GeneMap99-GB4 RH Map6201.14UniSTS
Whitehead-RH Map6300.8UniSTS
NCBI RH Map6708.6UniSTS
RH47678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,132,965 - 53,133,087UniSTSGRCh37
Build 36653,240,924 - 53,241,046RGDNCBI36
Celera654,795,204 - 54,795,326RGD
Cytogenetic Map6p21.1-p12.1UniSTS
HuRef652,964,800 - 52,964,922UniSTS
GeneMap99-GB4 RH Map6209.44UniSTS
A008D02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,134,271 - 53,134,531UniSTSGRCh37
Build 36653,242,230 - 53,242,490RGDNCBI36
Celera654,796,510 - 54,796,770RGD
Cytogenetic Map6p21.1-p12.1UniSTS
GeneMap99-GB4 RH Map6223.82UniSTS
RH93453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,133,967 - 53,135,475UniSTSGRCh37
Celera654,796,206 - 54,797,714UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
HuRef652,965,802 - 52,967,302UniSTS
GeneMap99-GB4 RH Map6219.86UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2253 4974 1726 2351 6 624 1951 465 2270 7304 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF231981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF338241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB143083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB225467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC345924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ980601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000304434   ⟹   ENSP00000306640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,267,404 - 53,348,950 (-)Ensembl
Ensembl Acc Id: ENST00000370913   ⟹   ENSP00000359951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,294,088 - 53,348,926 (-)Ensembl
Ensembl Acc Id: ENST00000370918   ⟹   ENSP00000359956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,267,398 - 53,349,179 (-)Ensembl
Ensembl Acc Id: ENST00000465983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,276,179 - 53,348,950 (-)Ensembl
Ensembl Acc Id: ENST00000485336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,275,125 - 53,348,973 (-)Ensembl
Ensembl Acc Id: ENST00000486973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,276,179 - 53,348,950 (-)Ensembl
Ensembl Acc Id: ENST00000542638   ⟹   ENSP00000440728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,267,398 - 53,349,179 (-)Ensembl
RefSeq Acc Id: NM_001242828   ⟹   NP_001229757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,267,404 - 53,348,950 (-)NCBI
GRCh37653,132,196 - 53,213,977 (-)ENTREZGENE
HuRef652,964,031 - 53,045,647 (-)ENTREZGENE
CHM1_1653,134,061 - 53,215,737 (-)NCBI
T2T-CHM13v2.0653,107,162 - 53,188,820 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242830   ⟹   NP_001229759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,267,404 - 53,348,950 (-)NCBI
GRCh37653,132,196 - 53,213,977 (-)ENTREZGENE
HuRef652,964,031 - 53,045,647 (-)ENTREZGENE
CHM1_1653,134,061 - 53,215,737 (-)NCBI
T2T-CHM13v2.0653,107,162 - 53,188,820 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242831   ⟹   NP_001229760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,294,088 - 53,348,950 (-)NCBI
GRCh37653,132,196 - 53,213,977 (-)ENTREZGENE
HuRef652,964,031 - 53,045,647 (-)ENTREZGENE
CHM1_1653,160,753 - 53,215,737 (-)NCBI
T2T-CHM13v2.0653,133,846 - 53,188,820 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301856   ⟹   NP_001288785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,267,404 - 53,348,950 (-)NCBI
CHM1_1653,134,061 - 53,215,503 (-)NCBI
T2T-CHM13v2.0653,107,162 - 53,188,820 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021814   ⟹   NP_068586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,267,404 - 53,348,950 (-)NCBI
GRCh37653,132,196 - 53,213,977 (-)ENTREZGENE
Build 36653,240,155 - 53,321,901 (-)NCBI Archive
Celera654,794,435 - 54,876,099 (-)RGD
HuRef652,964,031 - 53,045,647 (-)ENTREZGENE
CHM1_1653,134,061 - 53,215,737 (-)NCBI
T2T-CHM13v2.0653,107,162 - 53,188,820 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001229757 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229759 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229760 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288785 (Get FASTA)   NCBI Sequence Viewer  
  NP_068586 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF16688 (Get FASTA)   NCBI Sequence Viewer  
  AAF70631 (Get FASTA)   NCBI Sequence Viewer  
  AAH17270 (Get FASTA)   NCBI Sequence Viewer  
  AAH67123 (Get FASTA)   NCBI Sequence Viewer  
  AAM00193 (Get FASTA)   NCBI Sequence Viewer  
  BAC11178 (Get FASTA)   NCBI Sequence Viewer  
  BAC11270 (Get FASTA)   NCBI Sequence Viewer  
  BAD93035 (Get FASTA)   NCBI Sequence Viewer  
  BAG54141 (Get FASTA)   NCBI Sequence Viewer  
  BAG61584 (Get FASTA)   NCBI Sequence Viewer  
  BAG64104 (Get FASTA)   NCBI Sequence Viewer  
  CAB66873 (Get FASTA)   NCBI Sequence Viewer  
  CAF86084 (Get FASTA)   NCBI Sequence Viewer  
  EAX04413 (Get FASTA)   NCBI Sequence Viewer  
  EAX04414 (Get FASTA)   NCBI Sequence Viewer  
  EAX04415 (Get FASTA)   NCBI Sequence Viewer  
  EAX04416 (Get FASTA)   NCBI Sequence Viewer  
  EAX04417 (Get FASTA)   NCBI Sequence Viewer  
  EAX04418 (Get FASTA)   NCBI Sequence Viewer  
  EAX04419 (Get FASTA)   NCBI Sequence Viewer  
  EAX04420 (Get FASTA)   NCBI Sequence Viewer  
  EAX04421 (Get FASTA)   NCBI Sequence Viewer  
  EAX04422 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000306640
  ENSP00000306640.6
  ENSP00000359951
  ENSP00000359951.5
  ENSP00000359956
  ENSP00000359956.5
  ENSP00000440728
  ENSP00000440728.2
GenBank Protein Q9NYP7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_068586   ⟸   NM_021814
- Peptide Label: isoform 1
- UniProtKB: Q8NCG4 (UniProtKB/Swiss-Prot),   Q7L2S5 (UniProtKB/Swiss-Prot),   Q6NXE7 (UniProtKB/Swiss-Prot),   Q5TGH5 (UniProtKB/Swiss-Prot),   Q59EL3 (UniProtKB/Swiss-Prot),   F6SH78 (UniProtKB/Swiss-Prot),   B4DZJ2 (UniProtKB/Swiss-Prot),   Q9UI22 (UniProtKB/Swiss-Prot),   Q9NYP7 (UniProtKB/Swiss-Prot),   B3KWH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229759   ⟸   NM_001242830
- Peptide Label: isoform 3
- UniProtKB: A0A0A0MTI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229757   ⟸   NM_001242828
- Peptide Label: isoform 2
- UniProtKB: B3KWH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229760   ⟸   NM_001242831
- Peptide Label: isoform 4
- UniProtKB: Q9NYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288785   ⟸   NM_001301856
- Peptide Label: isoform 1
- UniProtKB: Q8NCG4 (UniProtKB/Swiss-Prot),   Q7L2S5 (UniProtKB/Swiss-Prot),   Q6NXE7 (UniProtKB/Swiss-Prot),   Q5TGH5 (UniProtKB/Swiss-Prot),   Q59EL3 (UniProtKB/Swiss-Prot),   F6SH78 (UniProtKB/Swiss-Prot),   B4DZJ2 (UniProtKB/Swiss-Prot),   Q9UI22 (UniProtKB/Swiss-Prot),   Q9NYP7 (UniProtKB/Swiss-Prot),   B3KWH9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000359951   ⟸   ENST00000370913
Ensembl Acc Id: ENSP00000359956   ⟸   ENST00000370918
Ensembl Acc Id: ENSP00000440728   ⟸   ENST00000542638
Ensembl Acc Id: ENSP00000306640   ⟸   ENST00000304434

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NYP7-F1-model_v2 AlphaFold Q9NYP7 1-299 view protein structure

Promoters
RGD ID:6803800
Promoter ID:HG_KWN:53872
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562
Transcripts:UC003PBT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36653,242,621 - 53,243,572 (-)MPROMDB
RGD ID:6812947
Promoter ID:HG_ACW:68740
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ELOVL5.GAPR07-UNSPLICED,   ELOVL5.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36653,308,419 - 53,308,919 (-)MPROMDB
RGD ID:6804331
Promoter ID:HG_KWN:53873
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_021814,   OTTHUMT00000043568,   OTTHUMT00000043569,   OTTHUMT00000043570,   UC003PBQ.1,   UC003PBS.1,   UC003PBU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36653,321,146 - 53,321,812 (-)MPROMDB
RGD ID:7208345
Promoter ID:EPDNEW_H9919
Type:initiation region
Name:ELOVL5_1
Description:ELOVL fatty acid elongase 5
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
GRCh38653,348,950 - 53,349,010EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21308 AgrOrtholog
COSMIC ELOVL5 COSMIC
Ensembl Genes ENSG00000012660 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304434 ENTREZGENE
  ENST00000304434.11 UniProtKB/Swiss-Prot
  ENST00000370913 ENTREZGENE
  ENST00000370913.5 UniProtKB/Swiss-Prot
  ENST00000370918 ENTREZGENE
  ENST00000370918.8 UniProtKB/Swiss-Prot
  ENST00000542638 ENTREZGENE
  ENST00000542638.5 UniProtKB/TrEMBL
GTEx ENSG00000012660 GTEx
HGNC ID HGNC:21308 ENTREZGENE
Human Proteome Map ELOVL5 Human Proteome Map
InterPro ELO_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ELOVL5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:60481 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 60481 ENTREZGENE
OMIM 611805 OMIM
PANTHER PTHR11157 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11157:SF18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ELO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394703 PharmGKB
UniProt A0A0A0MTI6 ENTREZGENE, UniProtKB/TrEMBL
  B3KWH9 ENTREZGENE, UniProtKB/TrEMBL
  B4DZJ2 ENTREZGENE
  ELOV5_HUMAN UniProtKB/Swiss-Prot
  F6SH78 ENTREZGENE
  Q59EL3 ENTREZGENE
  Q5TGH5 ENTREZGENE
  Q6NXE7 ENTREZGENE
  Q7L2S5 ENTREZGENE
  Q8NCG4 ENTREZGENE
  Q9NYP7 ENTREZGENE
  Q9UI22 ENTREZGENE
UniProt Secondary B4DZJ2 UniProtKB/Swiss-Prot
  F6SH78 UniProtKB/Swiss-Prot
  Q59EL3 UniProtKB/Swiss-Prot
  Q5TGH5 UniProtKB/Swiss-Prot
  Q6NXE7 UniProtKB/Swiss-Prot
  Q7L2S5 UniProtKB/Swiss-Prot
  Q8NCG4 UniProtKB/Swiss-Prot
  Q9UI22 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ELOVL5  ELOVL fatty acid elongase 5  ELOVL5  ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)  Symbol and/or name change 5135510 APPROVED