NELFE (negative elongation factor complex member E) - Rat Genome Database

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Gene: NELFE (negative elongation factor complex member E) Homo sapiens
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Symbol: NELFE
Name: negative elongation factor complex member E
RGD ID: 1344973
HGNC Page HGNC:13974
Description: Enables chromatin binding activity and mRNA binding activity. Involved in negative regulation of transcription elongation by RNA polymerase II. Located in nuclear body and plasma membrane. Part of NELF complex. Is active in chromatin and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D6S45; major histocompatibility complex gene RD; negative elongation factor E; negative elongation factor polypeptide E; NELF-E; nuclear protein; RD; RD RNA binding protein; RD RNA-binding protein; RDBP; RDP; RNA-binding protein RD
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
GRCh38631,952,087 - 31,958,971 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,952,087 - 31,959,038 (-)EnsemblGRCh38hg38GRCh38
GRCh37631,919,864 - 31,926,748 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,027,843 - 32,034,843 (-)NCBINCBI36Build 36hg18NCBI36
Build 34632,027,843 - 32,034,747NCBI
Celera633,519,627 - 33,526,530 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,706,833 - 31,713,834 (-)NCBIHuRef
CHM1_1631,921,945 - 31,928,945 (-)NCBICHM1_1
T2T-CHM13v2.0631,805,292 - 31,812,176 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA,IEA)
chromosome  (IEA)
NELF complex  (IBA,IDA,IEA,IPI)
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,NAS)
plasma membrane  (IDA)

Molecular Function
chromatin binding  (IDA,IEA,ISO)
mRNA binding  (IDA)
protein binding  (IPI)
RNA binding  (HDA,IDA,IEA,NAS)

Molecular Pathway 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. Control of transcriptional elongation. Kwak H and Lis JT, Annu Rev Genet. 2013;47:483-508. doi: 10.1146/annurev-genet-110711-155440. Epub 2013 Sep 11.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2119325   PMID:2612324   PMID:3353717   PMID:8373374   PMID:9264031   PMID:9776767   PMID:9799600   PMID:10072631   PMID:10199401   PMID:11112772   PMID:11940650   PMID:12477932  
PMID:12612062   PMID:12676794   PMID:14574404   PMID:14656967   PMID:14667819   PMID:14701750   PMID:15302935   PMID:15342491   PMID:15489334   PMID:15561718   PMID:16169070   PMID:16838299  
PMID:16880520   PMID:16898873   PMID:16964243   PMID:17081983   PMID:17353931   PMID:17442680   PMID:17499042   PMID:17643375   PMID:18029348   PMID:18303858   PMID:18562274   PMID:19115949  
PMID:19143814   PMID:19245807   PMID:19556007   PMID:19575011   PMID:19615732   PMID:19851445   PMID:20097260   PMID:20211142   PMID:20305087   PMID:20471948   PMID:21873635   PMID:22412018  
PMID:22614758   PMID:22658674   PMID:22740393   PMID:23577725   PMID:23602568   PMID:24158816   PMID:24453987   PMID:24636995   PMID:24981860   PMID:25416956   PMID:25452129   PMID:25921289  
PMID:26186194   PMID:26344197   PMID:26354767   PMID:26496610   PMID:26504077   PMID:27256882   PMID:27282391   PMID:28514442   PMID:28515276   PMID:29101316   PMID:29604130   PMID:29802200  
PMID:30135580   PMID:30196744   PMID:30554943   PMID:30585729   PMID:30833661   PMID:30884312   PMID:30890647   PMID:31048545   PMID:31091453   PMID:31353912   PMID:31638184   PMID:32296183  
PMID:32416067   PMID:32538781   PMID:32694731   PMID:32971831   PMID:33001583   PMID:33248388   PMID:33526068   PMID:33545068   PMID:33640491   PMID:33742100   PMID:33916271   PMID:33961781  
PMID:34079125   PMID:34108663   PMID:34189442   PMID:34428256   PMID:34551306   PMID:34597346   PMID:34795231   PMID:35041643   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35545047  
PMID:35831314   PMID:35944360   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36273042   PMID:36373674   PMID:36424410   PMID:36931259   PMID:37117180   PMID:37827155   PMID:38280479  


Genomics

Comparative Map Data
NELFE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,952,087 - 31,958,971 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,952,087 - 31,959,038 (-)EnsemblGRCh38hg38GRCh38
GRCh37631,919,864 - 31,926,748 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,027,843 - 32,034,843 (-)NCBINCBI36Build 36hg18NCBI36
Build 34632,027,843 - 32,034,747NCBI
Celera633,519,627 - 33,526,530 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,706,833 - 31,713,834 (-)NCBIHuRef
CHM1_1631,921,945 - 31,928,945 (-)NCBICHM1_1
T2T-CHM13v2.0631,805,292 - 31,812,176 (-)NCBIT2T-CHM13v2.0
Nelfe
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,069,367 - 35,075,348 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,069,367 - 35,075,348 (+)EnsemblGRCm39 Ensembl
GRCm381734,850,391 - 34,856,372 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1734,850,391 - 34,856,372 (+)EnsemblGRCm38mm10GRCm38
MGSCv371734,987,336 - 34,993,317 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361734,458,975 - 34,464,214 (+)NCBIMGSCv36mm8
Celera1737,945,699 - 37,951,680 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.4NCBI
Nelfe
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8203,981,259 - 3,987,016 (-)NCBIGRCr8
mRatBN7.2203,976,512 - 3,982,389 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl203,976,518 - 3,982,355 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx204,676,633 - 4,682,383 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0204,038,381 - 4,044,131 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0204,575,547 - 4,581,290 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0204,530,328 - 4,536,085 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl204,530,342 - 4,536,209 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0206,610,127 - 6,615,884 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4204,077,925 - 4,081,561 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1204,078,021 - 4,081,787 (-)NCBI
Celera204,048,306 - 4,054,061 (+)NCBICelera
Cytogenetic Map20p12NCBI
Nelfe
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955437466,690 - 473,084 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955437467,018 - 473,084 (-)NCBIChiLan1.0ChiLan1.0
NELFE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2546,428,781 - 46,435,590 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1642,390,268 - 42,397,077 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0631,612,924 - 31,619,732 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1632,499,538 - 32,506,382 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl632,499,540 - 32,506,382 (-)Ensemblpanpan1.1panPan2
NELFE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1121,406,411 - 1,412,387 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl121,406,271 - 1,412,324 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha121,541,468 - 1,547,598 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0121,548,568 - 1,554,700 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl121,548,568 - 1,554,605 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1121,405,843 - 1,411,974 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0121,474,213 - 1,480,345 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0121,539,542 - 1,546,943 (-)NCBIUU_Cfam_GSD_1.0
Nelfe
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494635,965,333 - 35,971,346 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367271,589,942 - 1,598,182 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367271,589,942 - 1,596,009 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NELFE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl724,040,525 - 24,047,025 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1724,040,525 - 24,046,932 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2727,765,281 - 27,771,676 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NELFE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11740,063,298 - 40,069,714 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1740,063,755 - 40,198,451 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604431,868,805 - 31,875,524 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nelfe
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475424,300,602 - 24,310,671 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475424,300,012 - 24,310,777 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NELFE
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002904.5(NELFE):c.1002C>G (p.Pro334=) single nucleotide variant Malignant melanoma [RCV000067298] Chr6:31953772 [GRCh38]
Chr6:31921549 [GRCh37]
Chr6:32029528 [NCBI36]
Chr6:6p21.33
not provided
NM_002904.5(NELFE):c.756C>T (p.Phe252=) single nucleotide variant Malignant melanoma [RCV000067299] Chr6:31954429 [GRCh38]
Chr6:31922206 [GRCh37]
Chr6:32030185 [NCBI36]
Chr6:6p21.33
not provided
NM_002904.5(NELFE):c.624G>A (p.Arg208=) single nucleotide variant Malignant melanoma [RCV000067300] Chr6:31954673 [GRCh38]
Chr6:31922450 [GRCh37]
Chr6:32030429 [NCBI36]
Chr6:6p21.33
not provided
NM_002904.5(NELFE):c.331C>T (p.Gln111Ter) single nucleotide variant Malignant melanoma [RCV000067301] Chr6:31955254 [GRCh38]
Chr6:31923031 [GRCh37]
Chr6:32031010 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.1518G>A (p.Lys506=) single nucleotide variant Malignant melanoma [RCV000061395] Chr6:31950297 [GRCh38]
Chr6:31918074 [GRCh37]
Chr6:32026053 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.804C>T (p.Ser268=) single nucleotide variant Malignant melanoma [RCV000067296] Chr6:31947988 [GRCh38]
Chr6:31915765 [GRCh37]
Chr6:32023744 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.1625-81G>T single nucleotide variant Malignant melanoma [RCV000067297] Chr6:31950538 [GRCh38]
Chr6:31918315 [GRCh37]
Chr6:32026294 [NCBI36]
Chr6:6p21.33
not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_006929.4(SKIC2):c.-280G>T single nucleotide variant Trichohepatoenteric syndrome [RCV000340053]|not provided [RCV004695925] Chr6:31958913 [GRCh38]
Chr6:31926690 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_006929.4(SKIC2):c.-370C>T single nucleotide variant Trichohepatoenteric syndrome [RCV000310756]|not provided [RCV004705404] Chr6:31958823 [GRCh38]
Chr6:31926600 [GRCh37]
Chr6:6p21.33
likely benign
NM_006929.4(SKIC2):c.-249C>G single nucleotide variant Trichohepatoenteric syndrome [RCV000361885] Chr6:31958944 [GRCh38]
Chr6:31926721 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_006929.4(SKIC2):c.-224G>A single nucleotide variant Trichohepatoenteric syndrome [RCV000260268] Chr6:31958969 [GRCh38]
Chr6:31926746 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_006929.4(SKIC2):c.-269T>C single nucleotide variant Trichohepatoenteric syndrome [RCV000304806] Chr6:31958924 [GRCh38]
Chr6:31926701 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_006929.4(SKIC2):c.-273G>A single nucleotide variant Trichohepatoenteric syndrome [RCV000393240] Chr6:31958920 [GRCh38]
Chr6:31926697 [GRCh37]
Chr6:6p21.33
uncertain significance
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_002904.6(NELFE):c.495C>A (p.Ser165Arg) single nucleotide variant not specified [RCV004317395] Chr6:31954802 [GRCh38]
Chr6:31922579 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.806A>G (p.Glu269Gly) single nucleotide variant not specified [RCV004307521] Chr6:31954379 [GRCh38]
Chr6:31922156 [GRCh37]
Chr6:6p21.33
uncertain significance
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(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [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
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32
uncertain significance
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
NC_000006.11:g.(?_30695893)_(31937492_?)dup duplication not provided [RCV003107453] Chr6:30695893..31937492 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.76-6T>A single nucleotide variant not provided [RCV000883047] Chr6:31957016 [GRCh38]
Chr6:31924793 [GRCh37]
Chr6:6p21.33
likely benign
NM_002904.6(NELFE):c.610CGGGATCGAGAC[1] (p.205DR[3]) microsatellite not provided [RCV000949923] Chr6:31954664..31954675 [GRCh38]
Chr6:31922441..31922452 [GRCh37]
Chr6:6p21.33
benign
NM_002904.6(NELFE):c.717CCGAGA[1] (p.237DR[2]) microsatellite not provided [RCV000966193] Chr6:31954569..31954574 [GRCh38]
Chr6:31922346..31922351 [GRCh37]
Chr6:6p21.33
benign
NM_002904.6(NELFE):c.660G>A (p.Arg220=) single nucleotide variant not provided [RCV000889577] Chr6:31954637 [GRCh38]
Chr6:31922414 [GRCh37]
Chr6:6p21.33
likely benign
NM_002904.6(NELFE):c.791T>C (p.Leu264Pro) single nucleotide variant not specified [RCV004199413] Chr6:31954394 [GRCh38]
Chr6:31922171 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3 copy number gain not provided [RCV001005792] Chr6:31916915..32278000 [GRCh37]
Chr6:6p21.33-21.32
uncertain significance
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NC_000006.12:g.31952140T>C single nucleotide variant not provided [RCV001609187] Chr6:31952140 [GRCh38]
Chr6:31919917 [GRCh37]
Chr6:6p21.33
benign
NC_000006.12:g.31952179T>C single nucleotide variant not provided [RCV001673843] Chr6:31952179 [GRCh38]
Chr6:31919956 [GRCh37]
Chr6:6p21.33
benign
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2
uncertain significance
NM_002904.6(NELFE):c.1075C>T (p.Arg359Trp) single nucleotide variant not specified [RCV004090077] Chr6:31952369 [GRCh38]
Chr6:31920146 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.629G>A (p.Arg210Gln) single nucleotide variant not specified [RCV004234649] Chr6:31954668 [GRCh38]
Chr6:31922445 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.740G>A (p.Arg247His) single nucleotide variant not specified [RCV004130175] Chr6:31954557 [GRCh38]
Chr6:31922334 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.143G>A (p.Arg48His) single nucleotide variant not specified [RCV004143131] Chr6:31956943 [GRCh38]
Chr6:31924720 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.646C>T (p.Arg216Trp) single nucleotide variant not specified [RCV004114831] Chr6:31954651 [GRCh38]
Chr6:31922428 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.377G>T (p.Arg126Leu) single nucleotide variant not specified [RCV004187500] Chr6:31955086 [GRCh38]
Chr6:31922863 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.524G>A (p.Gly175Asp) single nucleotide variant not specified [RCV004236180] Chr6:31954773 [GRCh38]
Chr6:31922550 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.563G>A (p.Arg188Gln) single nucleotide variant not specified [RCV004242733] Chr6:31954734 [GRCh38]
Chr6:31922511 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.739C>T (p.Arg247Cys) single nucleotide variant not specified [RCV004247106] Chr6:31954558 [GRCh38]
Chr6:31922335 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.667G>A (p.Asp223Asn) single nucleotide variant not specified [RCV004085841] Chr6:31954630 [GRCh38]
Chr6:31922407 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.893C>T (p.Ala298Val) single nucleotide variant not specified [RCV004096752] Chr6:31954129 [GRCh38]
Chr6:31921906 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.517C>T (p.Arg173Cys) single nucleotide variant not specified [RCV004221969] Chr6:31954780 [GRCh38]
Chr6:31922557 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.664C>G (p.Arg222Gly) single nucleotide variant not specified [RCV004357913] Chr6:31954633 [GRCh38]
Chr6:31922410 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.701G>A (p.Arg234Gln) single nucleotide variant not specified [RCV004345212] Chr6:31954596 [GRCh38]
Chr6:31922373 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.805G>A (p.Glu269Lys) single nucleotide variant not specified [RCV004361968] Chr6:31954380 [GRCh38]
Chr6:31922157 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.568C>T (p.Arg190Cys) single nucleotide variant not specified [RCV004335107] Chr6:31954729 [GRCh38]
Chr6:31922506 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.1123A>G (p.Asn375Asp) single nucleotide variant not specified [RCV004362149] Chr6:31952321 [GRCh38]
Chr6:31920098 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.335G>T (p.Arg112Met) single nucleotide variant not specified [RCV004483803] Chr6:31955250 [GRCh38]
Chr6:31923027 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.376C>T (p.Arg126Cys) single nucleotide variant not specified [RCV004483805] Chr6:31955087 [GRCh38]
Chr6:31922864 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.425G>A (p.Arg142Gln) single nucleotide variant not specified [RCV004483810] Chr6:31954872 [GRCh38]
Chr6:31922649 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.491G>A (p.Arg164Gln) single nucleotide variant not specified [RCV004483812] Chr6:31954806 [GRCh38]
Chr6:31922583 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.518G>A (p.Arg173His) single nucleotide variant not specified [RCV004483822] Chr6:31954779 [GRCh38]
Chr6:31922556 [GRCh37]
Chr6:6p21.33
likely benign
NM_002904.6(NELFE):c.605G>A (p.Arg202Gln) single nucleotide variant not specified [RCV004483836] Chr6:31954692 [GRCh38]
Chr6:31922469 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.985A>G (p.Ile329Val) single nucleotide variant not specified [RCV004483870] Chr6:31953789 [GRCh38]
Chr6:31921566 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.547C>G (p.Pro183Ala) single nucleotide variant not specified [RCV004483828] Chr6:31954750 [GRCh38]
Chr6:31922527 [GRCh37]
Chr6:6p21.33
uncertain significance
NC_000006.11:g.(?_31620520)_(31937492_?)del deletion not provided [RCV004578883] Chr6:31620520..31937492 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.1007T>A (p.Leu336Gln) single nucleotide variant not specified [RCV004654764] Chr6:31953767 [GRCh38]
Chr6:31921544 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_002904.6(NELFE):c.1102A>G (p.Ser368Gly) single nucleotide variant not specified [RCV004654765] Chr6:31952342 [GRCh38]
Chr6:31920119 [GRCh37]
Chr6:6p21.33
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR628hsa-miR-628-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3338
Count of miRNA genes:891
Interacting mature miRNAs:1066
Transcripts:ENST00000375425, ENST00000375429, ENST00000426722, ENST00000436289, ENST00000441998, ENST00000444811, ENST00000454913, ENST00000481121, ENST00000488426, ENST00000491139, ENST00000492185, ENST00000492539, ENST00000494956
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
406985482GWAS634458_Hvon Willebrand factor measurement QTL GWAS634458 (human)3e-08von Willebrand factor measurement63195807131958072Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
407009992GWAS658968_Hage-related macular degeneration QTL GWAS658968 (human)0.0000003age-related macular degeneration63195214031952141Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human
407009981GWAS658957_Hage-related macular degeneration QTL GWAS658957 (human)2e-10age-related macular degeneration63195214031952141Human

Markers in Region
D6S45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,922,312 - 31,922,596UniSTSGRCh37
Build 36632,030,291 - 32,030,575RGDNCBI36
Celera633,522,074 - 33,522,358RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,709,281 - 31,709,565UniSTS
RH46865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,920,035 - 31,920,164UniSTSGRCh37
Build 36632,028,014 - 32,028,143RGDNCBI36
Celera633,519,797 - 33,519,926RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,707,004 - 31,707,133UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
RDBP_8772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,919,667 - 31,920,183UniSTSGRCh37
Build 36632,027,646 - 32,028,162RGDNCBI36
Celera633,519,429 - 33,519,945RGD
HuRef631,706,636 - 31,707,152UniSTS
RH70616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,926,834 - 31,926,975UniSTSGRCh37
Build 36632,034,813 - 32,034,954RGDNCBI36
Celera633,526,596 - 33,526,737RGD
Cytogenetic Map6p21UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef631,713,804 - 31,713,945UniSTS
GeneMap99-GB4 RH Map6119.71UniSTS
SHGC-12705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,919,865 - 31,920,068UniSTSGRCh37
Build 36632,027,844 - 32,028,047RGDNCBI36
Celera633,519,627 - 33,519,830RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,706,834 - 31,707,037UniSTS
Stanford-G3 RH Map61652.0UniSTS
GeneMap99-G3 RH Map61784.0UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF019413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL844853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU935034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX005143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD579634 (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
  CR388219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR753845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ313904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L03411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000375425   ⟹   ENSP00000364574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,952,229 - 31,958,852 (-)Ensembl
Ensembl Acc Id: ENST00000375429   ⟹   ENSP00000364578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,952,087 - 31,958,971 (-)Ensembl
Ensembl Acc Id: ENST00000426722   ⟹   ENSP00000394340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,954,820 - 31,958,859 (-)Ensembl
Ensembl Acc Id: ENST00000436289   ⟹   ENSP00000414029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,954,389 - 31,958,571 (-)Ensembl
Ensembl Acc Id: ENST00000441998   ⟹   ENSP00000397914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,953,758 - 31,958,957 (-)Ensembl
Ensembl Acc Id: ENST00000444811   ⟹   ENSP00000388400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,952,229 - 31,958,960 (-)Ensembl
Ensembl Acc Id: ENST00000454913   ⟹   ENSP00000409389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,954,304 - 31,958,479 (-)Ensembl
Ensembl Acc Id: ENST00000481121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,952,228 - 31,958,962 (-)Ensembl
Ensembl Acc Id: ENST00000488426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,952,228 - 31,958,919 (-)Ensembl
Ensembl Acc Id: ENST00000491139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,955,065 - 31,958,965 (-)Ensembl
Ensembl Acc Id: ENST00000492185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,952,227 - 31,959,038 (-)Ensembl
Ensembl Acc Id: ENST00000492539   ⟹   ENSP00000419183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,954,773 - 31,958,968 (-)Ensembl
Ensembl Acc Id: ENST00000494956   ⟹   ENSP00000420205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,955,084 - 31,958,954 (-)Ensembl
Ensembl Acc Id: ENST00000625905   ⟹   ENSP00000486884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,957,400 - 31,958,446 (-)Ensembl
RefSeq Acc Id: NM_002904   ⟹   NP_002895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,952,087 - 31,958,971 (-)NCBI
GRCh37631,919,864 - 31,926,864 (-)ENTREZGENE
Build 36632,027,843 - 32,034,843 (-)NCBI Archive
HuRef631,706,833 - 31,713,834 (-)ENTREZGENE
CHM1_1631,921,945 - 31,928,945 (-)NCBI
T2T-CHM13v2.0631,805,292 - 31,812,176 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715205   ⟹   XP_006715268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,952,087 - 31,958,971 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514913   ⟹   XP_011513215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,952,087 - 31,958,444 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419354   ⟹   XP_047275310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,952,087 - 31,958,971 (-)NCBI
RefSeq Acc Id: XM_047419355   ⟹   XP_047275311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,952,087 - 31,958,971 (-)NCBI
RefSeq Acc Id: XM_047419356   ⟹   XP_047275312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,952,087 - 31,958,971 (-)NCBI
RefSeq Acc Id: XM_054356409   ⟹   XP_054212384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0631,805,292 - 31,812,176 (-)NCBI
RefSeq Acc Id: XM_054356410   ⟹   XP_054212385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0631,805,292 - 31,812,176 (-)NCBI
RefSeq Acc Id: XM_054356411   ⟹   XP_054212386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0631,805,292 - 31,812,176 (-)NCBI
Protein Sequences
Protein RefSeqs NP_002895 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715268 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513215 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275310 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275311 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185881 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186372 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186373 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186374 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186864 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186865 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186866 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187387 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187388 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212384 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212385 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212386 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36308 (Get FASTA)   NCBI Sequence Viewer  
  AAB67979 (Get FASTA)   NCBI Sequence Viewer  
  AAC37523 (Get FASTA)   NCBI Sequence Viewer  
  AAH25235 (Get FASTA)   NCBI Sequence Viewer  
  AAH50617 (Get FASTA)   NCBI Sequence Viewer  
  AAK29466 (Get FASTA)   NCBI Sequence Viewer  
  AFH41798 (Get FASTA)   NCBI Sequence Viewer  
  AQY76952 (Get FASTA)   NCBI Sequence Viewer  
  AQY76953 (Get FASTA)   NCBI Sequence Viewer  
  BAG62393 (Get FASTA)   NCBI Sequence Viewer  
  BAG63891 (Get FASTA)   NCBI Sequence Viewer  
  BAG64255 (Get FASTA)   NCBI Sequence Viewer  
  BAH13370 (Get FASTA)   NCBI Sequence Viewer  
  CAA34231 (Get FASTA)   NCBI Sequence Viewer  
  CAB89308 (Get FASTA)   NCBI Sequence Viewer  
  EAX03551 (Get FASTA)   NCBI Sequence Viewer  
  EAX03552 (Get FASTA)   NCBI Sequence Viewer  
  EAX03553 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000364574
  ENSP00000364574.5
  ENSP00000364578
  ENSP00000364578.3
  ENSP00000372660.4
  ENSP00000372834.4
  ENSP00000388400
  ENSP00000388400.2
  ENSP00000390689.1
  ENSP00000393005.2
  ENSP00000393103.1
  ENSP00000393793.1
  ENSP00000393794.1
  ENSP00000394340.1
  ENSP00000394879.2
  ENSP00000395175.1
  ENSP00000396604.1
  ENSP00000396971.1
  ENSP00000397565.1
  ENSP00000397914.1
  ENSP00000401342.1
  ENSP00000401745.1
  ENSP00000403623.2
  ENSP00000403630.1
  ENSP00000407528.1
  ENSP00000407630.1
  ENSP00000409139.1
  ENSP00000409269.1
  ENSP00000409389.1
  ENSP00000410872.1
  ENSP00000411487.1
  ENSP00000411724.1
  ENSP00000414014.1
  ENSP00000414029.2
  ENSP00000415567.1
  ENSP00000419183.1
  ENSP00000420205.1
  ENSP00000486074.1
  ENSP00000486432.1
  ENSP00000486647.1
  ENSP00000486884.1
  ENSP00000487225.1
  ENSP00000487402.1
GenBank Protein P18615 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002895   ⟸   NM_002904
- UniProtKB: Q96F56 (UniProtKB/Swiss-Prot),   Q5JP75 (UniProtKB/Swiss-Prot),   Q5JP74 (UniProtKB/Swiss-Prot),   B4DYX9 (UniProtKB/Swiss-Prot),   B4DUN1 (UniProtKB/Swiss-Prot),   A2BE08 (UniProtKB/Swiss-Prot),   Q9NPK2 (UniProtKB/Swiss-Prot),   P18615 (UniProtKB/Swiss-Prot),   A0A1U9X830 (UniProtKB/TrEMBL),   A0A1U9X839 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715268   ⟸   XM_006715205
- Peptide Label: isoform X2
- UniProtKB: A0A1U9X839 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513215   ⟸   XM_011514913
- Peptide Label: isoform X3
- UniProtKB: A0A1U9X839 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000394340   ⟸   ENST00000426722
Ensembl Acc Id: ENSP00000419183   ⟸   ENST00000492539
Ensembl Acc Id: ENSP00000486884   ⟸   ENST00000625905
Ensembl Acc Id: ENSP00000364574   ⟸   ENST00000375425
Ensembl Acc Id: ENSP00000364578   ⟸   ENST00000375429
Ensembl Acc Id: ENSP00000409389   ⟸   ENST00000454913
Ensembl Acc Id: ENSP00000420205   ⟸   ENST00000494956
Ensembl Acc Id: ENSP00000397914   ⟸   ENST00000441998
Ensembl Acc Id: ENSP00000388400   ⟸   ENST00000444811
Ensembl Acc Id: ENSP00000414029   ⟸   ENST00000436289
RefSeq Acc Id: XP_047275312   ⟸   XM_047419356
- Peptide Label: isoform X2
- UniProtKB: A0A1U9X839 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275310   ⟸   XM_047419354
- Peptide Label: isoform X1
- UniProtKB: Q96F56 (UniProtKB/Swiss-Prot),   Q5JP75 (UniProtKB/Swiss-Prot),   Q5JP74 (UniProtKB/Swiss-Prot),   P18615 (UniProtKB/Swiss-Prot),   B4DYX9 (UniProtKB/Swiss-Prot),   B4DUN1 (UniProtKB/Swiss-Prot),   A2BE08 (UniProtKB/Swiss-Prot),   Q9NPK2 (UniProtKB/Swiss-Prot),   A0A1U9X830 (UniProtKB/TrEMBL),   A0A1U9X839 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275311   ⟸   XM_047419355
- Peptide Label: isoform X1
- UniProtKB: Q96F56 (UniProtKB/Swiss-Prot),   Q5JP75 (UniProtKB/Swiss-Prot),   Q5JP74 (UniProtKB/Swiss-Prot),   P18615 (UniProtKB/Swiss-Prot),   B4DYX9 (UniProtKB/Swiss-Prot),   B4DUN1 (UniProtKB/Swiss-Prot),   A2BE08 (UniProtKB/Swiss-Prot),   Q9NPK2 (UniProtKB/Swiss-Prot),   A0A1U9X830 (UniProtKB/TrEMBL),   A0A1U9X839 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212385   ⟸   XM_054356410
- Peptide Label: isoform X2
- UniProtKB: A0A1U9X839 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212386   ⟸   XM_054356411
- Peptide Label: isoform X2
- UniProtKB: A0A1U9X839 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212384   ⟸   XM_054356409
- Peptide Label: isoform X1
- UniProtKB: Q96F56 (UniProtKB/Swiss-Prot),   Q5JP75 (UniProtKB/Swiss-Prot),   Q5JP74 (UniProtKB/Swiss-Prot),   P18615 (UniProtKB/Swiss-Prot),   B4DYX9 (UniProtKB/Swiss-Prot),   B4DUN1 (UniProtKB/Swiss-Prot),   A2BE08 (UniProtKB/Swiss-Prot),   Q9NPK2 (UniProtKB/Swiss-Prot),   A0A1U9X830 (UniProtKB/TrEMBL),   A0A1U9X839 (UniProtKB/TrEMBL)
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P18615-F1-model_v2 AlphaFold P18615 1-380 view protein structure

Promoters
RGD ID:6872692
Promoter ID:EPDNEW_H9511
Type:initiation region
Name:NELFE_1
Description:negative elongation factor complex member E
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
GRCh38631,958,962 - 31,959,022EPDNEW
RGD ID:6804603
Promoter ID:HG_KWN:53029
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375425,   OTTHUMT00000076047,   OTTHUMT00000076049,   OTTHUMT00000076050,   OTTHUMT00000076051,   OTTHUMT00000268584,   OTTHUMT00000268585,   OTTHUMT00000268586,   OTTHUMT00000268587,   OTTHUMT00000268588,   OTTHUMT00000268589,   OTTHUMT00000268626,   UC003NYL.1,   UC003NYM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,034,619 - 32,035,119 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13974 AgrOrtholog
COSMIC NELFE COSMIC
Ensembl Genes ENSG00000204356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206357 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000229363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000231044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000233801 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000375425 ENTREZGENE
  ENST00000375425.9 UniProtKB/Swiss-Prot
  ENST00000375429 ENTREZGENE
  ENST00000375429.8 UniProtKB/Swiss-Prot
  ENST00000383174.8 UniProtKB/Swiss-Prot
  ENST00000383343.8 UniProtKB/Swiss-Prot
  ENST00000411745.5 UniProtKB/TrEMBL
  ENST00000418059.1 UniProtKB/TrEMBL
  ENST00000418423.5 UniProtKB/TrEMBL
  ENST00000420039.1 UniProtKB/TrEMBL
  ENST00000420837.1 UniProtKB/TrEMBL
  ENST00000424762.5 UniProtKB/TrEMBL
  ENST00000424967.5 UniProtKB/TrEMBL
  ENST00000425721.5 UniProtKB/TrEMBL
  ENST00000425810.5 UniProtKB/TrEMBL
  ENST00000426722.5 UniProtKB/TrEMBL
  ENST00000429857.6 UniProtKB/Swiss-Prot
  ENST00000434518.5 UniProtKB/TrEMBL
  ENST00000435435.5 UniProtKB/TrEMBL
  ENST00000436289.6 UniProtKB/TrEMBL
  ENST00000437732.5 UniProtKB/TrEMBL
  ENST00000440478.5 UniProtKB/TrEMBL
  ENST00000441998.5 UniProtKB/TrEMBL
  ENST00000443464.5 UniProtKB/TrEMBL
  ENST00000444811 ENTREZGENE
  ENST00000444811.6 UniProtKB/Swiss-Prot
  ENST00000448628.6 UniProtKB/Swiss-Prot
  ENST00000449057.5 UniProtKB/TrEMBL
  ENST00000452147.5 UniProtKB/TrEMBL
  ENST00000453084.5 UniProtKB/TrEMBL
  ENST00000454913.5 UniProtKB/TrEMBL
  ENST00000456263.1 UniProtKB/TrEMBL
  ENST00000456281.5 UniProtKB/TrEMBL
  ENST00000457397.6 UniProtKB/Swiss-Prot
  ENST00000458622.1 UniProtKB/TrEMBL
  ENST00000492539.5 UniProtKB/TrEMBL
  ENST00000494956.1 UniProtKB/TrEMBL
  ENST00000625436.1 UniProtKB/TrEMBL
  ENST00000625545.1 UniProtKB/TrEMBL
  ENST00000625905.1 UniProtKB/TrEMBL
  ENST00000625993.1 UniProtKB/TrEMBL
  ENST00000628497.1 UniProtKB/TrEMBL
  ENST00000629797.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204356 GTEx
  ENSG00000206268 GTEx
  ENSG00000206357 GTEx
  ENSG00000229363 GTEx
  ENSG00000231044 GTEx
  ENSG00000233801 GTEx
HGNC ID HGNC:13974 ENTREZGENE
Human Proteome Map NELFE Human Proteome Map
InterPro NELFE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NELFE_RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7936 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7936 ENTREZGENE
OMIM 154040 OMIM
PANTHER NEGATIVE ELONGATION FACTOR E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR17250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134974984 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RNAcentral URS00008C0FEA RNACentral
  URS00008C279B RNACentral
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MSN9_HUMAN UniProtKB/TrEMBL
  A0A0A0MT02_HUMAN UniProtKB/TrEMBL
  A0A0G2JI50_HUMAN UniProtKB/TrEMBL
  A0A1U9X830 ENTREZGENE, UniProtKB/TrEMBL
  A0A1U9X839 ENTREZGENE, UniProtKB/TrEMBL
  A2ABK4_HUMAN UniProtKB/TrEMBL
  A2BE08 ENTREZGENE
  B4DUN1 ENTREZGENE
  B4DYX9 ENTREZGENE
  E7ENC7_HUMAN UniProtKB/TrEMBL
  E7EWR7_HUMAN UniProtKB/TrEMBL
  E9PD43_HUMAN UniProtKB/TrEMBL
  NELFE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5JP74 ENTREZGENE
  Q5JP75 ENTREZGENE
  Q96F56 ENTREZGENE
  Q9NPK2 ENTREZGENE
UniProt Secondary A2BE08 UniProtKB/Swiss-Prot
  B4DUN1 UniProtKB/Swiss-Prot
  B4DYX9 UniProtKB/Swiss-Prot
  Q5JP74 UniProtKB/Swiss-Prot
  Q5JP75 UniProtKB/Swiss-Prot
  Q96F56 UniProtKB/Swiss-Prot
  Q9NPK2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-02-06 NELFE  negative elongation factor complex member E  RDBP  RD RNA binding protein  Symbol and/or name change 5135510 APPROVED