ELP5 (elongator acetyltransferase complex subunit 5) - Rat Genome Database

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Gene: ELP5 (elongator acetyltransferase complex subunit 5) Homo sapiens
Analyze
Symbol: ELP5
Name: elongator acetyltransferase complex subunit 5
RGD ID: 1606812
HGNC Page HGNC:30617
Description: Predicted to contribute to tRNA binding activity. Predicted to be involved in positive regulation of cell migration and tRNA modification. Located in cytosol and nucleoplasm. Part of elongator holoenzyme complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C17orf81; dermal papilla derived protein 6; dermal papilla-derived protein 6; DERP6; elongator complex protein 5; HSPC002; MST071; MSTP071; S-phase 2 protein
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
GRCh38177,251,724 - 7,259,940 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,251,416 - 7,259,940 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,155,043 - 7,163,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,096,096 - 7,103,987 (+)NCBINCBI36Build 36hg18NCBI36
Celera177,180,017 - 7,187,904 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,046,778 - 7,054,665 (+)NCBIHuRef
CHM1_1177,164,164 - 7,172,057 (+)NCBICHM1_1
T2T-CHM13v2.0177,152,647 - 7,160,863 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA)
elongator holoenzyme complex  (IBA,IDA,IEA,IPI)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:8125298   PMID:8889548   PMID:10737800   PMID:11042152   PMID:12477932   PMID:15342556   PMID:15489334   PMID:16713569   PMID:16850183   PMID:18029348   PMID:21873635   PMID:22678362  
PMID:22854966   PMID:23891004   PMID:26186194   PMID:26261306   PMID:26598620   PMID:27847465   PMID:27880917   PMID:28514442   PMID:29117863   PMID:31452512   PMID:31519766   PMID:31792210  
PMID:31839598   PMID:32814053   PMID:33961781   PMID:34373451   PMID:34709727   PMID:35545034   PMID:36617428   PMID:37704626   PMID:37866880  


Genomics

Comparative Map Data
ELP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,251,724 - 7,259,940 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,251,416 - 7,259,940 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,155,043 - 7,163,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,096,096 - 7,103,987 (+)NCBINCBI36Build 36hg18NCBI36
Celera177,180,017 - 7,187,904 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,046,778 - 7,054,665 (+)NCBIHuRef
CHM1_1177,164,164 - 7,172,057 (+)NCBICHM1_1
T2T-CHM13v2.0177,152,647 - 7,160,863 (+)NCBIT2T-CHM13v2.0
Elp5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,859,050 - 69,872,352 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,859,048 - 69,873,343 (-)EnsemblGRCm39 Ensembl
GRCm381169,968,224 - 69,981,447 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,968,222 - 69,982,517 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,781,726 - 69,794,737 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,784,419 - 69,796,705 (-)NCBIMGSCv36mm8
Celera1177,516,158 - 77,528,499 (-)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.94NCBI
Elp5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,191,223 - 55,202,949 (-)NCBIGRCr8
mRatBN7.21054,692,526 - 54,704,255 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,692,530 - 54,704,923 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,354,723 - 59,366,292 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,843,301 - 58,854,870 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,350,579 - 54,362,149 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,578,980 - 56,590,706 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,578,985 - 56,591,364 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,324,100 - 56,335,825 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,813,486 - 56,825,043 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11056,827,112 - 56,838,666 (-)NCBI
Celera1053,846,158 - 53,857,718 (-)NCBICelera
Cytogenetic Map10q24NCBI
Elp5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,651,219 - 9,659,502 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,654,532 - 9,660,035 (-)NCBIChiLan1.0ChiLan1.0
ELP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21914,843,085 - 14,852,575 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11716,809,089 - 16,818,581 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,281,571 - 7,289,800 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,269,468 - 7,277,347 (+)NCBIpanpan1.1PanPan1.1panPan2
ELP5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,217,752 - 32,223,729 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,217,464 - 32,223,732 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,355,979 - 32,361,977 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,323,307 - 32,329,305 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,323,408 - 32,329,305 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,288,587 - 32,294,586 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,247,615 - 32,253,611 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,424,568 - 32,430,566 (+)NCBIUU_Cfam_GSD_1.0
Elp5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,069,410 - 47,075,926 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595544,251 - 550,114 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595544,091 - 550,114 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,606,293 - 52,612,266 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,606,140 - 52,612,275 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,828,997 - 54,834,932 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ELP5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,625,418 - 6,632,732 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,625,723 - 6,635,327 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,777,836 - 14,785,341 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Elp5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247869,867,704 - 9,874,886 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247869,866,689 - 9,873,242 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ELP5
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 copy number gain See cases [RCV000139216] Chr17:6891357..7264234 [GRCh38]
Chr17:6794676..7167553 [GRCh37]
Chr17:6735400..7108277 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3 copy number gain Breast ductal adenocarcinoma [RCV000207224] Chr17:7120452..7165252 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3 copy number gain Breast ductal adenocarcinoma [RCV000207305] Chr17:7121580..7186623 [GRCh37]
Chr17:17p13.1		 likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_203414.3(ELP5):c.17T>C (p.Leu6Ser) single nucleotide variant not specified [RCV004312848] Chr17:7252567 [GRCh38]
Chr17:7155886 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.7124585_7400253dup duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 uncertain significance
Single allele duplication Isolated Pierre-Robin syndrome [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7013365-7265208)x1 copy number loss not provided [RCV000739389] Chr17:7013365..7265208 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.806G>A (p.Arg269Gln) single nucleotide variant not specified [RCV004295759] Chr17:7259588 [GRCh38]
Chr17:7162907 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.188+4A>C single nucleotide variant not provided [RCV000903554] Chr17:7253002 [GRCh38]
Chr17:7156321 [GRCh37]
Chr17:17p13.1		 benign
NM_203414.3(ELP5):c.689T>C (p.Val230Ala) single nucleotide variant not provided [RCV000903555] Chr17:7258827 [GRCh38]
Chr17:7162146 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.641G>A (p.Gly214Glu) single nucleotide variant not provided [RCV000965361] Chr17:7258637 [GRCh38]
Chr17:7161956 [GRCh37]
Chr17:17p13.1		 benign
NM_203414.3(ELP5):c.-41C>T single nucleotide variant not specified [RCV004292502] Chr17:7252510 [GRCh38]
Chr17:7155829 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.10:g.(?_7123304)_(7606804_?)del deletion Common variable immunodeficiency [RCV003107751] Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1 copy number loss not provided [RCV001259300] Chr17:7014481..7283233 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3 copy number gain not provided [RCV002474897] Chr17:7043719..7193448 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.292A>G (p.Thr98Ala) single nucleotide variant not specified [RCV004127727] Chr17:7254686 [GRCh38]
Chr17:7158005 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.572G>A (p.Arg191Gln) single nucleotide variant not specified [RCV004232724] Chr17:7257019 [GRCh38]
Chr17:7160338 [GRCh37]
Chr17:17p13.1		 likely benign
NM_203414.3(ELP5):c.-11G>T single nucleotide variant not specified [RCV004093172] Chr17:7252540 [GRCh38]
Chr17:7155859 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.43C>G (p.Arg15Gly) single nucleotide variant not specified [RCV004154270] Chr17:7252593 [GRCh38]
Chr17:7155912 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.605C>T (p.Ser202Phe) single nucleotide variant not specified [RCV004122865] Chr17:7258601 [GRCh38]
Chr17:7161920 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.-17C>T single nucleotide variant not provided [RCV004695338]|not specified [RCV004077255] Chr17:7252534 [GRCh38]
Chr17:7155853 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.397G>A (p.Asp133Asn) single nucleotide variant not specified [RCV004081795] Chr17:7254791 [GRCh38]
Chr17:7158110 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.643C>G (p.Pro215Ala) single nucleotide variant not specified [RCV004081276] Chr17:7258639 [GRCh38]
Chr17:7161958 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.97T>C (p.Ser33Pro) single nucleotide variant not specified [RCV004081066] Chr17:7252820 [GRCh38]
Chr17:7156139 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.250C>A (p.Pro84Thr) single nucleotide variant not specified [RCV004083522] Chr17:7254644 [GRCh38]
Chr17:7157963 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.883G>C (p.Asp295His) single nucleotide variant not specified [RCV004285224] Chr17:7259665 [GRCh38]
Chr17:7162984 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.187C>T (p.Arg63Trp) single nucleotide variant not specified [RCV004257341] Chr17:7252997 [GRCh38]
Chr17:7156316 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_203414.3(ELP5):c.251C>T (p.Pro84Leu) single nucleotide variant not specified [RCV004321817] Chr17:7254645 [GRCh38]
Chr17:7157964 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.809C>T (p.Pro270Leu) single nucleotide variant not specified [RCV004268898] Chr17:7259591 [GRCh38]
Chr17:7162910 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_203414.3(ELP5):c.157C>T (p.Arg53Cys) single nucleotide variant not specified [RCV004348507] Chr17:7252967 [GRCh38]
Chr17:7156286 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.830G>C (p.Ser277Thr) single nucleotide variant not specified [RCV004337775] Chr17:7259612 [GRCh38]
Chr17:7162931 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.577C>T (p.Arg193Cys) single nucleotide variant not specified [RCV004350725] Chr17:7257024 [GRCh38]
Chr17:7160343 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.130G>T (p.Gly44Cys) single nucleotide variant not specified [RCV004362512] Chr17:7252940 [GRCh38]
Chr17:7156259 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1 copy number loss not specified [RCV003987240] Chr17:7002380..7469251 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_203414.3(ELP5):c.512A>G (p.Glu171Gly) single nucleotide variant not specified [RCV004382419] Chr17:7256959 [GRCh38]
Chr17:7160278 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.346C>T (p.Arg116Cys) single nucleotide variant not specified [RCV004382418] Chr17:7254740 [GRCh38]
Chr17:7158059 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.260C>T (p.Pro87Leu) single nucleotide variant not specified [RCV004382416] Chr17:7254654 [GRCh38]
Chr17:7157973 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.263T>G (p.Leu88Arg) single nucleotide variant not specified [RCV004382417] Chr17:7254657 [GRCh38]
Chr17:7157976 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7123304)_(7360042_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV004581341] Chr17:7123304..7360042 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
Single allele deletion Faundes-Banka syndrome [RCV004577981] Chr17:7004634..7232940 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_203414.3(ELP5):c.805C>T (p.Arg269Trp) single nucleotide variant not specified [RCV004624851] Chr17:7259587 [GRCh38]
Chr17:7162906 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.253G>A (p.Gly85Arg) single nucleotide variant not specified [RCV004624852] Chr17:7254647 [GRCh38]
Chr17:7157966 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.811A>G (p.Arg271Gly) single nucleotide variant not specified [RCV004624853] Chr17:7259593 [GRCh38]
Chr17:7162912 [GRCh37]
Chr17:17p13.1		 likely benign
NM_203414.3(ELP5):c.742G>C (p.Glu248Gln) single nucleotide variant not specified [RCV004912650] Chr17:7258880 [GRCh38]
Chr17:7162199 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.2-12(chr17:4678235-14745263)x3 copy number gain not provided [RCV004819316] Chr17:4678235..14745263 [GRCh37]
Chr17:17p13.2-12		 pathogenic
NM_203414.3(ELP5):c.481G>A (p.Val161Met) single nucleotide variant not specified [RCV004912652] Chr17:7256928 [GRCh38]
Chr17:7160247 [GRCh37]
Chr17:17p13.1		 likely benign
NM_203414.3(ELP5):c.563G>A (p.Arg188Gln) single nucleotide variant not specified [RCV004912648] Chr17:7257010 [GRCh38]
Chr17:7160329 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.589C>G (p.Gln197Glu) single nucleotide variant not specified [RCV004912653] Chr17:7257036 [GRCh38]
Chr17:7160355 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.545C>T (p.Ser182Leu) single nucleotide variant not specified [RCV004912651] Chr17:7256992 [GRCh38]
Chr17:7160311 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.250C>T (p.Pro84Ser) single nucleotide variant not specified [RCV004912649] Chr17:7254644 [GRCh38]
Chr17:7157963 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.656C>T (p.Ser219Phe) single nucleotide variant not specified [RCV004922825] Chr17:7258652 [GRCh38]
Chr17:7161971 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_203414.3(ELP5):c.761T>C (p.Ile254Thr) single nucleotide variant not specified [RCV004922827] Chr17:7258899 [GRCh38]
Chr17:7162218 [GRCh37]
Chr17:17p13.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3982
Count of miRNA genes:975
Interacting mature miRNAs:1224
Transcripts:ENST00000354429, ENST00000356683, ENST00000396627, ENST00000396628, ENST00000570322, ENST00000570500, ENST00000571146, ENST00000572104, ENST00000573513, ENST00000573657, ENST00000573699, ENST00000574255, ENST00000574841, ENST00000574993, ENST00000576496
Prediction methods:Microtar, Miranda, Pita, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597287987GWAS1384061_Hhypertension QTL GWAS1384061 (human)2e-08hypertension1772572057257206Human
597247938GWAS1344012_Halkaline phosphatase measurement QTL GWAS1344012 (human)4e-62alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)1772525427252543Human
596975561GWAS1095080_Hhypertension QTL GWAS1095080 (human)2e-08hypertension1772572057257206Human
597273494GWAS1369568_Hsystolic blood pressure QTL GWAS1369568 (human)4e-16systolic blood pressuresystolic blood pressure (CMO:0000004)1772572057257206Human

Markers in Region
WIAF-2127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,163,255 - 7,163,381UniSTSGRCh37
Build 36177,103,979 - 7,104,105RGDNCBI36
Celera177,187,900 - 7,188,026RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,054,661 - 7,054,787UniSTS
GeneMap99-GB4 RH Map1748.74UniSTS
RH102011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,157,983 - 7,158,102UniSTSGRCh37
Build 36177,098,707 - 7,098,826RGDNCBI36
Celera177,182,628 - 7,182,747RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,049,389 - 7,049,508UniSTS
GeneMap99-GB4 RH Map1753.8UniSTS
RH47392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,163,081 - 7,163,201UniSTSGRCh37
Build 36177,103,805 - 7,103,925RGDNCBI36
Celera177,187,726 - 7,187,846RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,054,487 - 7,054,607UniSTS
GeneMap99-GB4 RH Map1753.39UniSTS
D17S2159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,163,071 - 7,163,201UniSTSGRCh37
Build 36177,103,795 - 7,103,925RGDNCBI36
Celera177,187,716 - 7,187,846RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,054,477 - 7,054,607UniSTS
DERP6_9376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,162,674 - 7,163,344UniSTSGRCh37
Build 36177,103,398 - 7,104,068RGDNCBI36
Celera177,187,319 - 7,187,989RGD
HuRef177,054,080 - 7,054,750UniSTS
RH12882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,163,338 - 7,163,465UniSTSGRCh37
Build 36177,104,062 - 7,104,189RGDNCBI36
Celera177,187,983 - 7,188,110RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,054,744 - 7,054,871UniSTS
GeneMap99-GB4 RH Map1753.5UniSTS


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 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_145515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB013910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF163262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE743557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF921423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF982004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI916017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM970924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP230198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ648358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA431021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA450318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF135215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY021862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000354429   ⟹   ENSP00000346412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,251,801 - 7,259,897 (+)Ensembl
Ensembl Acc Id: ENST00000356683   ⟹   ENSP00000349111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,251,739 - 7,259,931 (+)Ensembl
Ensembl Acc Id: ENST00000396627   ⟹   ENSP00000379868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,232 - 7,259,940 (+)Ensembl
Ensembl Acc Id: ENST00000396628   ⟹   ENSP00000379869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,215 - 7,259,937 (+)Ensembl
Ensembl Acc Id: ENST00000570322   ⟹   ENSP00000460947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,525 - 7,259,940 (+)Ensembl
Ensembl Acc Id: ENST00000570500   ⟹   ENSP00000458691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,237 - 7,254,633 (+)Ensembl
Ensembl Acc Id: ENST00000571146   ⟹   ENSP00000459535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,770 - 7,258,968 (+)Ensembl
Ensembl Acc Id: ENST00000572104   ⟹   ENSP00000459248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,254,583 - 7,258,782 (+)Ensembl
Ensembl Acc Id: ENST00000573513   ⟹   ENSP00000460596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,024 - 7,258,639 (+)Ensembl
Ensembl Acc Id: ENST00000573657   ⟹   ENSP00000459633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,376 - 7,254,906 (+)Ensembl
Ensembl Acc Id: ENST00000573699   ⟹   ENSP00000459897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,251,416 - 7,257,028 (+)Ensembl
Ensembl Acc Id: ENST00000574255   ⟹   ENSP00000461489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,056 - 7,254,913 (+)Ensembl
Ensembl Acc Id: ENST00000574841   ⟹   ENSP00000461890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,623 - 7,254,803 (+)Ensembl
Ensembl Acc Id: ENST00000574993   ⟹   ENSP00000459835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,286 - 7,259,940 (+)Ensembl
Ensembl Acc Id: ENST00000576496   ⟹   ENSP00000459010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,555 - 7,259,079 (+)Ensembl
Ensembl Acc Id: ENST00000715856   ⟹   ENSP00000520527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,252,215 - 7,259,937 (+)Ensembl
RefSeq Acc Id: NM_015362   ⟹   NP_056177
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,252,215 - 7,259,937 (+)NCBI
GRCh37177,155,372 - 7,163,259 (+)RGD
Build 36177,096,275 - 7,103,987 (+)NCBI Archive
Celera177,180,017 - 7,187,904 (+)RGD
HuRef177,046,778 - 7,054,665 (+)RGD
CHM1_1177,164,312 - 7,172,057 (+)NCBI
T2T-CHM13v2.0177,153,138 - 7,160,860 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203413   ⟹   NP_981958
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,252,215 - 7,259,937 (+)NCBI
GRCh37177,155,372 - 7,163,259 (+)RGD
Build 36177,096,275 - 7,103,983 (+)NCBI Archive
Celera177,180,017 - 7,187,904 (+)RGD
HuRef177,046,778 - 7,054,665 (+)RGD
CHM1_1177,164,312 - 7,172,057 (+)NCBI
T2T-CHM13v2.0177,153,138 - 7,160,860 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203414   ⟹   NP_981959
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,252,215 - 7,259,937 (+)NCBI
GRCh37177,155,372 - 7,163,259 (+)RGD
Build 36177,096,275 - 7,103,987 (+)NCBI Archive
Celera177,180,017 - 7,187,904 (+)RGD
HuRef177,046,778 - 7,054,665 (+)RGD
CHM1_1177,164,312 - 7,172,057 (+)NCBI
T2T-CHM13v2.0177,153,138 - 7,160,860 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203415   ⟹   NP_981960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,251,724 - 7,259,937 (+)NCBI
GRCh37177,155,372 - 7,163,259 (+)RGD
Build 36177,096,096 - 7,103,983 (+)NCBI Archive
Celera177,180,017 - 7,187,904 (+)RGD
HuRef177,046,778 - 7,054,665 (+)RGD
CHM1_1177,164,164 - 7,172,057 (+)NCBI
T2T-CHM13v2.0177,152,647 - 7,160,860 (+)NCBI
Sequence:
RefSeq Acc Id: NR_145515
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,252,426 - 7,259,940 (+)NCBI
T2T-CHM13v2.0177,153,349 - 7,160,863 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523779   ⟹   XP_011522081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,252,215 - 7,259,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054315636   ⟹   XP_054171611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,153,140 - 7,160,860 (+)NCBI
RefSeq Acc Id: NP_981960   ⟸   NM_203415
- Peptide Label: isoform 1
- UniProtKB: Q9Y2Q4 (UniProtKB/Swiss-Prot),   Q9BUB2 (UniProtKB/Swiss-Prot),   Q8TE02 (UniProtKB/Swiss-Prot),   Q8TDR9 (UniProtKB/Swiss-Prot),   Q7Z2T4 (UniProtKB/Swiss-Prot),   Q659B6 (UniProtKB/Swiss-Prot),   D3DTN9 (UniProtKB/Swiss-Prot),   A8K1M5 (UniProtKB/Swiss-Prot),   I3L1Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_981959   ⟸   NM_203414
- Peptide Label: isoform 1
- UniProtKB: Q9Y2Q4 (UniProtKB/Swiss-Prot),   Q9BUB2 (UniProtKB/Swiss-Prot),   Q8TE02 (UniProtKB/Swiss-Prot),   Q8TDR9 (UniProtKB/Swiss-Prot),   Q7Z2T4 (UniProtKB/Swiss-Prot),   Q659B6 (UniProtKB/Swiss-Prot),   D3DTN9 (UniProtKB/Swiss-Prot),   A8K1M5 (UniProtKB/Swiss-Prot),   I3L1Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056177   ⟸   NM_015362
- Peptide Label: isoform 1
- UniProtKB: Q9Y2Q4 (UniProtKB/Swiss-Prot),   Q9BUB2 (UniProtKB/Swiss-Prot),   Q8TE02 (UniProtKB/Swiss-Prot),   Q8TDR9 (UniProtKB/Swiss-Prot),   Q7Z2T4 (UniProtKB/Swiss-Prot),   Q659B6 (UniProtKB/Swiss-Prot),   D3DTN9 (UniProtKB/Swiss-Prot),   A8K1M5 (UniProtKB/Swiss-Prot),   I3L1Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_981958   ⟸   NM_203413
- Peptide Label: isoform 2
- UniProtKB: A0AAG2TUE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522081   ⟸   XM_011523779
- Peptide Label: isoform X1
- UniProtKB: I3L1Q3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000460947   ⟸   ENST00000570322
Ensembl Acc Id: ENSP00000458691   ⟸   ENST00000570500
Ensembl Acc Id: ENSP00000459535   ⟸   ENST00000571146
Ensembl Acc Id: ENSP00000459248   ⟸   ENST00000572104
Ensembl Acc Id: ENSP00000459897   ⟸   ENST00000573699
Ensembl Acc Id: ENSP00000459633   ⟸   ENST00000573657
Ensembl Acc Id: ENSP00000460596   ⟸   ENST00000573513
Ensembl Acc Id: ENSP00000459835   ⟸   ENST00000574993
Ensembl Acc Id: ENSP00000461890   ⟸   ENST00000574841
Ensembl Acc Id: ENSP00000461489   ⟸   ENST00000574255
Ensembl Acc Id: ENSP00000459010   ⟸   ENST00000576496
Ensembl Acc Id: ENSP00000346412   ⟸   ENST00000354429
Ensembl Acc Id: ENSP00000349111   ⟸   ENST00000356683
Ensembl Acc Id: ENSP00000379869   ⟸   ENST00000396628
Ensembl Acc Id: ENSP00000379868   ⟸   ENST00000396627
RefSeq Acc Id: XP_054171611   ⟸   XM_054315636
- Peptide Label: isoform X1
- UniProtKB: I3L1Q3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000520527   ⟸   ENST00000715856

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TE02-F1-model_v2 AlphaFold Q8TE02 1-316 view protein structure

Promoters
RGD ID:6793815
Promoter ID:HG_KWN:24858
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015362,   NM_203413,   NM_203414,   NM_203415,   UC002GFK.1,   UC002GFL.1,   UC010CMB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,095,231 - 7,096,572 (+)MPROMDB
RGD ID:7233671
Promoter ID:EPDNEW_H22579
Type:initiation region
Name:ELP5_2
Description:elongator acetyltransferase complex subunit 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22580  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,252,215 - 7,252,275EPDNEW
RGD ID:7233667
Promoter ID:EPDNEW_H22580
Type:initiation region
Name:ELP5_1
Description:elongator acetyltransferase complex subunit 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22579  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,252,553 - 7,252,613EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30617 AgrOrtholog
COSMIC ELP5 COSMIC
Ensembl Genes ENSG00000170291 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000288485 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354429 ENTREZGENE
  ENST00000354429.7 UniProtKB/Swiss-Prot
  ENST00000356683.7 UniProtKB/Swiss-Prot
  ENST00000396627 ENTREZGENE
  ENST00000396627.7 UniProtKB/Swiss-Prot
  ENST00000396628 ENTREZGENE
  ENST00000396628.7 UniProtKB/Swiss-Prot
  ENST00000573657.6 UniProtKB/Swiss-Prot
  ENST00000574255.6 UniProtKB/Swiss-Prot
  ENST00000574993 ENTREZGENE
  ENST00000574993.6 UniProtKB/Swiss-Prot
  ENST00000671820.1 UniProtKB/Swiss-Prot
  ENST00000671829.1 UniProtKB/Swiss-Prot
  ENST00000673570.1 UniProtKB/Swiss-Prot
GTEx ENSG00000170291 GTEx
  ENSG00000288485 GTEx
HGNC ID HGNC:30617 ENTREZGENE
Human Proteome Map ELP5 Human Proteome Map
InterPro Elp5 UniProtKB/Swiss-Prot
KEGG Report hsa:23587 UniProtKB/Swiss-Prot
NCBI Gene 23587 ENTREZGENE
OMIM 615019 OMIM
PANTHER ELONGATOR COMPLEX PROTEIN 5 UniProtKB/Swiss-Prot
  PTHR15641 UniProtKB/Swiss-Prot
Pfam Elong_Iki1 UniProtKB/Swiss-Prot
PharmGKB PA143485405 PharmGKB
UniProt A0AAG2TTU6_HUMAN UniProtKB/TrEMBL
  A0AAG2TUE0_HUMAN UniProtKB/TrEMBL
  A0AAG2TUE2 ENTREZGENE, UniProtKB/TrEMBL
  A0AAG2TUG6_HUMAN UniProtKB/TrEMBL
  A0AAG2TUH6_HUMAN UniProtKB/TrEMBL
  A0AAG2TUP7_HUMAN UniProtKB/TrEMBL
  A8K1M5 ENTREZGENE
  D3DTN9 ENTREZGENE
  ELP5_HUMAN UniProtKB/Swiss-Prot
  I3L1A8_HUMAN UniProtKB/TrEMBL
  I3L1Q3 ENTREZGENE, UniProtKB/TrEMBL
  I3L200_HUMAN UniProtKB/TrEMBL
  I3L2A9_HUMAN UniProtKB/TrEMBL
  I3L2T0_HUMAN UniProtKB/TrEMBL
  I3L437_HUMAN UniProtKB/TrEMBL
  I3NI50_HUMAN UniProtKB/TrEMBL
  Q659B6 ENTREZGENE
  Q7Z2T4 ENTREZGENE
  Q8TDR9 ENTREZGENE
  Q8TE02 ENTREZGENE
  Q9BUB2 ENTREZGENE
  Q9Y2Q4 ENTREZGENE
UniProt Secondary A8K1M5 UniProtKB/Swiss-Prot
  D3DTN9 UniProtKB/Swiss-Prot
  Q659B6 UniProtKB/Swiss-Prot
  Q7Z2T4 UniProtKB/Swiss-Prot
  Q8TDR9 UniProtKB/Swiss-Prot
  Q9BUB2 UniProtKB/Swiss-Prot
  Q9Y2Q4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-14 ELP5  elongator acetyltransferase complex subunit 5  C17orf81  chromosome 17 open reading frame 81  Symbol and/or name change 5135510 APPROVED