ELOVL7 (ELOVL fatty acid elongase 7) - Rat Genome Database

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Gene: ELOVL7 (ELOVL fatty acid elongase 7) Homo sapiens
Analyze
Symbol: ELOVL7
Name: ELOVL fatty acid elongase 7
RGD ID: 1321534
HGNC Page HGNC:26292
Description: Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, saturated fatty acid; and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 3-keto acyl-CoA synthase ELOVL7; elongation of very long chain fatty acids protein 7; ELOVL FA elongase 7; ELOVL family member 7, elongation of long chain fatty acids; FLJ23563; very long chain 3-ketoacyl-CoA synthase 7; very long chain 3-oxoacyl-CoA synthase 7; very long chain fatty acid elongase 7; very-long-chain 3-oxoacyl-CoA synthase 7
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
GRCh38560,751,791 - 60,844,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl560,751,791 - 60,844,274 (-)EnsemblGRCh38hg38GRCh38
GRCh37560,047,618 - 60,140,096 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36560,083,373 - 60,175,858 (-)NCBINCBI36Build 36hg18NCBI36
Build 34560,084,557 - 60,118,950NCBI
Celera556,988,499 - 57,035,934 (-)NCBICelera
Cytogenetic Map5q12.1NCBI
HuRef557,005,661 - 57,098,149 (-)NCBIHuRef
CHM1_1560,047,394 - 60,139,754 (-)NCBICHM1_1
T2T-CHM13v2.0561,568,283 - 61,660,654 (-)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)
(-)-alpha-phellandrene  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
Acetyl tributyl citrate  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
chromium atom  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cordycepin  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dieldrin  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
enzalutamide  (EXP)
flutamide  (ISO)
folic acid  (EXP,ISO)
fumonisin B1  (ISO)
furan  (ISO)
heptachlor  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methylmercury chloride  (EXP)
mirex  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
obeticholic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8944226   PMID:12477932   PMID:16344560   PMID:19826053   PMID:20379614   PMID:20937905   PMID:21873635   PMID:21959040   PMID:22751105   PMID:25416956   PMID:25732827   PMID:27928700  
PMID:29509190   PMID:32296183   PMID:33600908   PMID:33845483   PMID:34117479   PMID:35271311   PMID:36930494  


Genomics

Comparative Map Data
ELOVL7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38560,751,791 - 60,844,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl560,751,791 - 60,844,274 (-)EnsemblGRCh38hg38GRCh38
GRCh37560,047,618 - 60,140,096 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36560,083,373 - 60,175,858 (-)NCBINCBI36Build 36hg18NCBI36
Build 34560,084,557 - 60,118,950NCBI
Celera556,988,499 - 57,035,934 (-)NCBICelera
Cytogenetic Map5q12.1NCBI
HuRef557,005,661 - 57,098,149 (-)NCBIHuRef
CHM1_1560,047,394 - 60,139,754 (-)NCBICHM1_1
T2T-CHM13v2.0561,568,283 - 61,660,654 (-)NCBIT2T-CHM13v2.0
Elovl7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913108,350,860 - 108,423,643 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13108,350,938 - 108,422,217 (+)EnsemblGRCm39 Ensembl
GRCm3813108,214,326 - 108,287,109 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13108,214,404 - 108,285,683 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713109,004,598 - 109,077,303 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613109,335,178 - 109,405,803 (+)NCBIMGSCv36mm8
Celera13112,551,690 - 112,624,165 (+)NCBICelera
Cytogenetic Map13D2.1NCBI
cM Map1359.69NCBI
Elovl7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8241,522,695 - 41,592,021 (+)NCBIGRCr8
mRatBN7.2239,789,229 - 39,858,579 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl239,789,250 - 39,856,845 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx246,937,664 - 46,965,040 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0244,996,356 - 45,023,735 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0239,839,648 - 39,867,091 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0240,373,211 - 40,386,643 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl240,373,211 - 40,386,669 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0258,700,091 - 58,710,001 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0259,446,064 - 59,459,496 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4239,568,590 - 39,596,055 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1239,448,011 - 39,516,142 (+)NCBI
Celera235,669,583 - 35,696,983 (+)NCBICelera
Cytogenetic Map2q14NCBI
Elovl7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554467,700,511 - 7,758,842 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554467,732,291 - 7,758,842 (+)NCBIChiLan1.0ChiLan1.0
ELOVL7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2453,067,039 - 53,159,418 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1551,220,674 - 51,313,050 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0553,156,518 - 53,248,839 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1554,797,632 - 54,888,930 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl554,853,330 - 54,888,930 (+)Ensemblpanpan1.1panPan2
ELOVL7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1247,406,323 - 47,482,113 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl247,296,656 - 47,482,064 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha244,482,053 - 44,557,877 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0247,883,290 - 47,959,282 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl247,883,307 - 47,959,225 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1244,953,671 - 45,029,435 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0245,733,258 - 45,815,969 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0246,592,096 - 46,667,957 (-)NCBIUU_Cfam_GSD_1.0
Elovl7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213198,705,753 - 198,774,777 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364807,642,187 - 7,711,250 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364807,642,188 - 7,711,245 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELOVL7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1639,588,129 - 39,680,173 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11639,588,122 - 39,680,273 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21642,499,485 - 42,591,696 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ELOVL7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1456,934,631 - 57,026,749 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl456,934,645 - 56,965,285 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660495,423,953 - 5,516,229 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Elovl7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248159,190,454 - 9,247,746 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248159,154,070 - 9,247,251 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ELOVL7
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1		 pathogenic
GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1 copy number loss See cases [RCV000133749] Chr5:60499077..63927783 [GRCh38]
Chr5:59794904..63223610 [GRCh37]
Chr5:59830661..63259366 [NCBI36]
Chr5:5q12.1-12.3		 pathogenic
GRCh38/hg38 5q12.1(chr5:60609368-60885007)x1 copy number loss See cases [RCV000134161] Chr5:60609368..60885007 [GRCh38]
Chr5:59905195..60180834 [GRCh37]
Chr5:59940952..60216591 [NCBI36]
Chr5:5q12.1		 uncertain significance
GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 copy number gain See cases [RCV000134066] Chr5:56947850..61725401 [GRCh38]
Chr5:56243677..61021228 [GRCh37]
Chr5:56279434..61056985 [NCBI36]
Chr5:5q11.2-12.1		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5q12.1(chr5:60724569-60859782)x1 copy number loss See cases [RCV000141314] Chr5:60724569..60859782 [GRCh38]
Chr5:60020396..60155609 [GRCh37]
Chr5:60056153..60191366 [NCBI36]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1 copy number loss See cases [RCV002285073] Chr5:59783655..63257950 [GRCh37]
Chr5:5q12.1-12.3		 pathogenic
GRCh37/hg19 5q12.1(chr5:59698068-60053255)x3 copy number gain See cases [RCV000446213] Chr5:59698068..60053255 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.1(chr5:59929560-61133024)x1 copy number loss See cases [RCV000448828] Chr5:59929560..61133024 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1 copy number loss See cases [RCV000511984] Chr5:59753805..63274635 [GRCh37]
Chr5:5q12.1-12.3		 uncertain significance
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4 copy number gain See cases [RCV000510792] Chr5:58966132..68847066 [GRCh37]
Chr5:5q12.1-13.2		 likely pathogenic
NM_024930.3(ELOVL7):c.637G>T (p.Val213Phe) single nucleotide variant Inborn genetic diseases [RCV003248048] Chr5:60754833 [GRCh38]
Chr5:60050660 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60018949-60230718)x1 copy number loss not provided [RCV000682560] Chr5:60018949..60230718 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.1(chr5:60020520-60132201)x3 copy number gain not provided [RCV000744745] Chr5:60020520..60132201 [GRCh37]
Chr5:5q12.1		 benign
GRCh37/hg19 5q12.1(chr5:60127724-60132806)x1 copy number loss not provided [RCV000744746] Chr5:60127724..60132806 [GRCh37]
Chr5:5q12.1		 benign
GRCh37/hg19 5q12.1(chr5:60131871-60132696)x1 copy number loss not provided [RCV000744747] Chr5:60131871..60132696 [GRCh37]
Chr5:5q12.1		 benign
GRCh37/hg19 5q12.1(chr5:60131871-60132806)x1 copy number loss not provided [RCV000744748] Chr5:60131871..60132806 [GRCh37]
Chr5:5q12.1		 benign
GRCh37/hg19 5q12.1(chr5:60133899-60284640)x1 copy number loss not provided [RCV000846725] Chr5:60133899..60284640 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60101557-60809784)x3 copy number gain not provided [RCV000847945] Chr5:60101557..60809784 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60133899-60284640)x1 copy number loss not provided [RCV000848250] Chr5:60133899..60284640 [GRCh37]
Chr5:5q12.1		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2		 likely pathogenic
GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3 copy number gain not provided [RCV000848282] Chr5:60101557..60658345 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:59842939-60331361)x1 copy number loss not provided [RCV000848414] Chr5:59842939..60331361 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3 copy number gain not provided [RCV000848054] Chr5:60101557..60658345 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60116532-60809784)x3 copy number gain not provided [RCV000846596] Chr5:60116532..60809784 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60100026-60227670)x1 copy number loss not provided [RCV001005678] Chr5:60100026..60227670 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:59698068-60053255) copy number gain not specified [RCV002053496] Chr5:59698068..60053255 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:59929560-61133024) copy number loss not specified [RCV002053497] Chr5:59929560..61133024 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60040060-60643659)x3 copy number gain not provided [RCV002472459] Chr5:60040060..60643659 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60019297-60230718)x1 copy number loss not provided [RCV002475652] Chr5:60019297..60230718 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.542A>C (p.His181Pro) single nucleotide variant Inborn genetic diseases [RCV002772784] Chr5:60757603 [GRCh38]
Chr5:60053430 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.209C>T (p.Thr70Met) single nucleotide variant Inborn genetic diseases [RCV002841435] Chr5:60771949 [GRCh38]
Chr5:60067776 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.698A>T (p.Tyr233Phe) single nucleotide variant Inborn genetic diseases [RCV002901556] Chr5:60754772 [GRCh38]
Chr5:60050599 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.271T>C (p.Trp91Arg) single nucleotide variant Inborn genetic diseases [RCV002799975] Chr5:60767888 [GRCh38]
Chr5:60063715 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.388G>C (p.Asp130His) single nucleotide variant Inborn genetic diseases [RCV002844831] Chr5:60766579 [GRCh38]
Chr5:60062406 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.410G>A (p.Arg137His) single nucleotide variant Inborn genetic diseases [RCV002845424] Chr5:60764316 [GRCh38]
Chr5:60060143 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.617A>G (p.Tyr206Cys) single nucleotide variant Inborn genetic diseases [RCV002645045] Chr5:60757528 [GRCh38]
Chr5:60053355 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.303T>G (p.Ile101Met) single nucleotide variant Inborn genetic diseases [RCV002855870] Chr5:60767856 [GRCh38]
Chr5:60063683 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_024930.3(ELOVL7):c.-85-3412G>A single nucleotide variant not provided [RCV003429647] Chr5:60802642 [GRCh38]
Chr5:60098469 [GRCh37]
Chr5:5q12.1		 likely benign
Single allele deletion Cockayne syndrome type 1 [RCV003600463] Chr5:59945691..60204587 [GRCh37]
Chr5:5q12.1		 pathogenic
GRCh37/hg19 5q12.1(chr5:60111731-60809784)x3 copy number gain not specified [RCV003986563] Chr5:60111731..60809784 [GRCh37]
Chr5:5q12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4123
Count of miRNA genes:764
Interacting mature miRNAs:883
Transcripts:ENST00000425382, ENST00000438340, ENST00000504455, ENST00000505959, ENST00000507047, ENST00000508821, ENST00000511799, ENST00000514809
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.

Markers in Region
RH98189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,047,763 - 60,047,932UniSTSGRCh37
Build 36560,083,520 - 60,083,689RGDNCBI36
Celera556,988,646 - 56,988,815RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,005,808 - 57,005,977UniSTS
GeneMap99-GB4 RH Map5296.53UniSTS
SHGC-106355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,090,491 - 60,090,803UniSTSGRCh37
Build 36560,126,248 - 60,126,560RGDNCBI36
Celera557,031,370 - 57,031,682RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,048,537 - 57,048,849UniSTS
TNG Radiation Hybrid Map526983.0UniSTS
SHGC-77932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,106,469 - 60,106,773UniSTSGRCh37
Build 36560,142,226 - 60,142,530RGDNCBI36
Celera557,047,335 - 57,047,639RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,064,516 - 57,064,820UniSTS
TNG Radiation Hybrid Map526972.0UniSTS
D5S2713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,098,467 - 60,098,651UniSTSGRCh37
Build 36560,134,224 - 60,134,408RGDNCBI36
Celera557,039,332 - 57,039,516RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,056,513 - 57,056,697UniSTS


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 280 44 582 61 138 49 2482 49 1673 270 375 700 21 616 1262
Low 2146 1875 967 393 1211 246 1143 1236 2036 148 926 896 152 588 820 5 2
Below cutoff 12 1068 173 167 587 167 726 906 23 1 158 13 1 1 705

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001104558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB181393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI769834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA247166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000425382   ⟹   ENSP00000402634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,751,792 - 60,844,274 (-)Ensembl
RefSeq Acc Id: ENST00000504455   ⟹   ENSP00000425127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,754,458 - 60,787,465 (-)Ensembl
RefSeq Acc Id: ENST00000505959   ⟹   ENSP00000421043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,751,793 - 60,844,215 (-)Ensembl
RefSeq Acc Id: ENST00000507047   ⟹   ENSP00000426400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,764,230 - 60,844,269 (-)Ensembl
RefSeq Acc Id: ENST00000508821   ⟹   ENSP00000424123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,751,791 - 60,844,269 (-)Ensembl
RefSeq Acc Id: ENST00000511799   ⟹   ENSP00000424081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,764,230 - 60,843,538 (-)Ensembl
RefSeq Acc Id: ENST00000514809   ⟹   ENSP00000422602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,764,261 - 60,844,210 (-)Ensembl
RefSeq Acc Id: NM_001104558   ⟹   NP_001098028
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,844,269 (-)NCBI
GRCh37560,047,616 - 60,140,101 (-)RGD
Build 36560,083,373 - 60,175,858 (-)NCBI Archive
Celera556,988,499 - 57,035,934 (-)RGD
HuRef557,005,661 - 57,098,149 (-)NCBI
CHM1_1560,047,394 - 60,139,754 (-)NCBI
T2T-CHM13v2.0561,568,283 - 61,660,633 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001297617   ⟹   NP_001284546
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,844,269 (-)NCBI
CHM1_1560,047,394 - 60,139,754 (-)NCBI
T2T-CHM13v2.0561,568,283 - 61,660,633 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001297618   ⟹   NP_001284547
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,844,269 (-)NCBI
CHM1_1560,047,394 - 60,139,754 (-)NCBI
T2T-CHM13v2.0561,568,283 - 61,660,633 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024930   ⟹   NP_079206
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,844,269 (-)NCBI
GRCh37560,047,616 - 60,140,101 (-)RGD
Build 36560,083,373 - 60,175,858 (-)NCBI Archive
Celera556,988,499 - 57,035,934 (-)RGD
HuRef557,005,661 - 57,098,149 (-)NCBI
CHM1_1560,047,394 - 60,139,754 (-)NCBI
T2T-CHM13v2.0561,568,283 - 61,660,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248606   ⟹   XP_005248663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,844,269 (-)NCBI
GRCh37560,047,616 - 60,140,101 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714695   ⟹   XP_006714758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,844,269 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543651   ⟹   XP_011541953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,843,562 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009888   ⟹   XP_016865377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,800,587 - 60,844,145 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417776   ⟹   XP_047273732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,751,791 - 60,787,423 (-)NCBI
RefSeq Acc Id: XM_047444546   ⟹   XP_047300502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0561,617,072 - 61,660,509 (-)NCBI
RefSeq Acc Id: XM_054353553   ⟹   XP_054209528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0561,568,283 - 61,660,633 (-)NCBI
RefSeq Acc Id: XM_054353554   ⟹   XP_054209529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0561,568,283 - 61,660,108 (-)NCBI
RefSeq Acc Id: XM_054353555   ⟹   XP_054209530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0561,568,283 - 61,660,654 (-)NCBI
RefSeq Acc Id: XM_054353556   ⟹   XP_054209531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0561,568,283 - 61,603,915 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_079206   ⟸   NM_024930
- Peptide Label: isoform 1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001098028   ⟸   NM_001104558
- Peptide Label: isoform 1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248663   ⟸   XM_005248606
- Peptide Label: isoform X1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006714758   ⟸   XM_006714695
- Peptide Label: isoform X1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001284547   ⟸   NM_001297618
- Peptide Label: isoform 3
- UniProtKB: A1L3X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001284546   ⟸   NM_001297617
- Peptide Label: isoform 2
- UniProtKB: D6RHD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541953   ⟸   XM_011543651
- Peptide Label: isoform X1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016865377   ⟸   XM_017009888
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000402634   ⟸   ENST00000425382
RefSeq Acc Id: ENSP00000425127   ⟸   ENST00000504455
RefSeq Acc Id: ENSP00000421043   ⟸   ENST00000505959
RefSeq Acc Id: ENSP00000426400   ⟸   ENST00000507047
RefSeq Acc Id: ENSP00000424123   ⟸   ENST00000508821
RefSeq Acc Id: ENSP00000424081   ⟸   ENST00000511799
RefSeq Acc Id: ENSP00000422602   ⟸   ENST00000514809
RefSeq Acc Id: XP_047273732   ⟸   XM_047417776
- Peptide Label: isoform X2
- UniProtKB: D6RHD0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047300502   ⟸   XM_047444546
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054209530   ⟸   XM_054353555
- Peptide Label: isoform X1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054209528   ⟸   XM_054353553
- Peptide Label: isoform X1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054209529   ⟸   XM_054353554
- Peptide Label: isoform X1
- UniProtKB: Q9H5D0 (UniProtKB/Swiss-Prot),   Q589T3 (UniProtKB/Swiss-Prot),   A1L3X0 (UniProtKB/Swiss-Prot),   Q9NT66 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054209531   ⟸   XM_054353556
- Peptide Label: isoform X2
- UniProtKB: D6RHD0 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A1L3X0-F1-model_v2 AlphaFold A1L3X0 1-281 view protein structure

Promoters
RGD ID:6803028
Promoter ID:HG_KWN:50201
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001104558,   NM_024930,   UC003JSJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36560,175,556 - 60,176,056 (-)MPROMDB
RGD ID:6869684
Promoter ID:EPDNEW_H8007
Type:initiation region
Name:ELOVL7_1
Description:ELOVL fatty acid elongase 7
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
GRCh38560,844,269 - 60,844,329EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26292 AgrOrtholog
COSMIC ELOVL7 COSMIC
Ensembl Genes ENSG00000164181 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000425382 ENTREZGENE
  ENST00000425382.5 UniProtKB/Swiss-Prot
  ENST00000504455.5 UniProtKB/TrEMBL
  ENST00000505959 ENTREZGENE
  ENST00000505959.5 UniProtKB/TrEMBL
  ENST00000507047.5 UniProtKB/TrEMBL
  ENST00000508821 ENTREZGENE
  ENST00000508821.6 UniProtKB/Swiss-Prot
  ENST00000511799.5 UniProtKB/TrEMBL
  ENST00000514809.1 UniProtKB/TrEMBL
GTEx ENSG00000164181 GTEx
HGNC ID HGNC:26292 ENTREZGENE
Human Proteome Map ELOVL7 Human Proteome Map
InterPro ELO_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ELO_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ELOVL7 UniProtKB/Swiss-Prot
KEGG Report hsa:79993 UniProtKB/Swiss-Prot
NCBI Gene 79993 ENTREZGENE
OMIM 614451 OMIM
PANTHER PTHR11157 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11157:SF118 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ELO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134934034 PharmGKB
PROSITE ELO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L3X0 ENTREZGENE
  D6RBM2_HUMAN UniProtKB/TrEMBL
  D6RBR5_HUMAN UniProtKB/TrEMBL
  D6RE10_HUMAN UniProtKB/TrEMBL
  D6RHD0 ENTREZGENE, UniProtKB/TrEMBL
  ELOV7_HUMAN UniProtKB/Swiss-Prot
  Q589T3 ENTREZGENE
  Q9H5D0 ENTREZGENE
  Q9NT66 ENTREZGENE
UniProt Secondary Q589T3 UniProtKB/Swiss-Prot
  Q9H5D0 UniProtKB/Swiss-Prot
  Q9NT66 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ELOVL7  ELOVL fatty acid elongase 7  ELOVL7  ELOVL family member 7, elongation of long chain fatty acids (yeast)  Symbol and/or name change 5135510 APPROVED