NEMF (nuclear export mediator factor) - Rat Genome Database

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Gene: NEMF (nuclear export mediator factor) Homo sapiens
Analyze
Symbol: NEMF
Name: nuclear export mediator factor
RGD ID: 1317135
HGNC Page HGNC:10663
Description: Enables alpha-aminoacyl-tRNA binding activity and ribosomal large subunit binding activity. Involved in CAT tailing; nuclear export; and protein-containing complex assembly. Located in cytosol. Part of RQC complex. Is active in cytosolic ribosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen NY-CO-1; caliban homolog; FLJ10051; IDDSAPN; New-York Colon 1; nuclear export mediator factor NEMF; NY-CO-1; ribosome quality control complex subunit NEMF; RQC2; SDCCAG1; serologically defined colon cancer antigen 1
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
GRCh381449,782,083 - 49,852,788 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1449,782,083 - 49,852,821 (-)EnsemblGRCh38hg38GRCh38
GRCh371450,248,801 - 50,319,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,320,282 - 49,389,289 (-)NCBINCBI36Build 36hg18NCBI36
Build 341449,320,282 - 49,389,289NCBI
Celera1430,118,228 - 30,186,686 (-)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1430,375,757 - 30,444,509 (-)NCBIHuRef
CHM1_11450,189,108 - 50,257,797 (-)NCBICHM1_1
T2T-CHM13v2.01443,987,877 - 44,058,011 (-)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  (IEA)
cytosol  (IDA,IEA)
cytosolic ribosome  (IDA)
nucleus  (IEA)
RQC complex  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9610721   PMID:10575219   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16103875   PMID:16341674   PMID:16344560   PMID:16712791   PMID:17081983   PMID:18029348   PMID:21873635  
PMID:22939629   PMID:23272104   PMID:24778252   PMID:25578875   PMID:25659891   PMID:25693804   PMID:25877867   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27684187  
PMID:28514442   PMID:28515276   PMID:28533407   PMID:28611215   PMID:28695742   PMID:29540532   PMID:30021884   PMID:30033366   PMID:30940648   PMID:30948266   PMID:31048545   PMID:31091453  
PMID:31343991   PMID:31932471   PMID:31980649   PMID:32807901   PMID:33048237   PMID:33406423   PMID:33545068   PMID:33658012   PMID:33742100   PMID:33845483   PMID:33853758   PMID:33909987  
PMID:33961781   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36244648   PMID:36517590  


Genomics

Comparative Map Data
NEMF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381449,782,083 - 49,852,788 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1449,782,083 - 49,852,821 (-)EnsemblGRCh38hg38GRCh38
GRCh371450,248,801 - 50,319,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,320,282 - 49,389,289 (-)NCBINCBI36Build 36hg18NCBI36
Build 341449,320,282 - 49,389,289NCBI
Celera1430,118,228 - 30,186,686 (-)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1430,375,757 - 30,444,509 (-)NCBIHuRef
CHM1_11450,189,108 - 50,257,797 (-)NCBICHM1_1
T2T-CHM13v2.01443,987,877 - 44,058,011 (-)NCBIT2T-CHM13v2.0
Nemf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391269,358,315 - 69,403,975 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1269,357,296 - 69,403,939 (-)EnsemblGRCm39 Ensembl
GRCm381269,311,541 - 69,357,201 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1269,310,522 - 69,357,165 (-)EnsemblGRCm38mm10GRCm38
MGSCv371270,412,530 - 70,458,153 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361270,230,148 - 70,275,771 (-)NCBIMGSCv36mm8
Celera1270,409,762 - 70,455,395 (-)NCBICelera
Cytogenetic Map12C2NCBI
cM Map1228.78NCBI
Nemf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8693,527,690 - 93,571,863 (-)NCBIGRCr8
mRatBN7.2687,791,650 - 87,835,826 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl687,791,656 - 87,835,841 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx688,190,715 - 88,235,069 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0688,490,148 - 88,534,500 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0687,929,905 - 87,974,257 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0691,611,021 - 91,676,394 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06101,068,660 - 101,132,712 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4691,276,394 - 91,319,734 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera686,289,001 - 86,333,626 (-)NCBICelera
Cytogenetic Map6q24NCBI
Nemf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540912,855,749 - 12,900,702 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540912,855,655 - 12,901,673 (+)NCBIChiLan1.0ChiLan1.0
NEMF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21550,917,346 - 50,988,160 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11450,135,272 - 50,205,013 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01430,372,390 - 30,441,660 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11448,679,252 - 48,748,258 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1448,679,252 - 48,748,258 (-)Ensemblpanpan1.1panPan2
NEMF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1826,364,664 - 26,411,475 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl826,364,838 - 26,411,424 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha826,113,773 - 26,165,138 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0826,537,351 - 26,588,734 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl826,542,548 - 26,588,859 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1826,192,975 - 26,244,344 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0826,266,156 - 26,317,640 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0826,583,882 - 26,635,227 (-)NCBIUU_Cfam_GSD_1.0
Nemf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864058,428,777 - 58,479,125 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936583209,813 - 255,131 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936583209,818 - 255,439 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEMF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1179,622,755 - 179,670,996 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11179,622,728 - 179,671,225 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21199,958,280 - 200,005,937 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NEMF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12426,834,457 - 26,906,668 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2426,835,305 - 26,906,564 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605315,159,608 - 15,230,852 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nemf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473118,917,191 - 18,961,764 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473118,917,097 - 18,963,490 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEMF
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004713.4(NEMF):c.902C>T (p.Ser301Phe) single nucleotide variant Malignant melanoma [RCV000070542] Chr14:49831342 [GRCh38]
Chr14:50298060 [GRCh37]
Chr14:49367810 [NCBI36]
Chr14:14q21.3		 not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NM_004713.6(NEMF):c.2431_2432del (p.Gln811fs) microsatellite Malignant tumor of prostate [RCV000204354] Chr14:49799508..49799509 [GRCh38]
Chr14:50266226..50266227 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.161C>A (p.Ser54Tyr) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374555] Chr14:49851633 [GRCh38]
Chr14:50318351 [GRCh37]
Chr14:14q21.3		 uncertain significance
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q21.3(chr14:50176512-50298072)x3 copy number gain See cases [RCV000446889] Chr14:50176512..50298072 [GRCh37]
Chr14:14q21.3		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_004713.6(NEMF):c.527G>A (p.Ser176Asn) single nucleotide variant Inborn genetic diseases [RCV003272491] Chr14:49838186 [GRCh38]
Chr14:50304904 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2987C>T (p.Ala996Val) single nucleotide variant Inborn genetic diseases [RCV003280651] Chr14:49785262 [GRCh38]
Chr14:50251980 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2573C>T (p.Thr858Ile) single nucleotide variant Inborn genetic diseases [RCV003254595] Chr14:49795837 [GRCh38]
Chr14:50262555 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_014315.3(KLHDC2):c.1147T>C (p.Trp383Arg) single nucleotide variant Inborn genetic diseases [RCV003257678] Chr14:49782879 [GRCh38]
Chr14:50249597 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2681T>C (p.Ile894Thr) single nucleotide variant Inborn genetic diseases [RCV003296602] Chr14:49789512 [GRCh38]
Chr14:50256230 [GRCh37]
Chr14:14q21.3		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_004713.6(NEMF):c.225C>G (p.Ala75=) single nucleotide variant NEMF-related condition [RCV003913302]|not provided [RCV000950229] Chr14:49851569 [GRCh38]
Chr14:50318287 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.600C>T (p.His200=) single nucleotide variant NEMF-related condition [RCV003970498]|not provided [RCV000922434] Chr14:49834424 [GRCh38]
Chr14:50301142 [GRCh37]
Chr14:14q21.3		 benign|likely benign
NC_000014.8:g.(?_50092240)_(50698021_?)dup duplication Noonan syndrome 9 [RCV000799423] Chr14:49625522..50231303 [GRCh38]
Chr14:50092240..50698021 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.3126A>G (p.Arg1042=) single nucleotide variant NEMF-related condition [RCV003926128]|not provided [RCV000960592] Chr14:49784952 [GRCh38]
Chr14:50251670 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.980G>A (p.Arg327Gln) single nucleotide variant not provided [RCV001250467] Chr14:49829392 [GRCh38]
Chr14:50296110 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2768del (p.Lys923fs) deletion not provided [RCV001250471] Chr14:49789273 [GRCh38]
Chr14:50255991 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.2011C>T (p.Arg671Ter) single nucleotide variant not provided [RCV001250469] Chr14:49802537 [GRCh38]
Chr14:50269255 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.1684G>A (p.Asp562Asn) single nucleotide variant Inborn genetic diseases [RCV003271878] Chr14:49814048 [GRCh38]
Chr14:50280766 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1040A>G (p.Lys347Arg) single nucleotide variant Inborn genetic diseases [RCV003246252] Chr14:49829246 [GRCh38]
Chr14:50295964 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1649A>G (p.Asn550Ser) single nucleotide variant not provided [RCV002464730] Chr14:49814786 [GRCh38]
Chr14:50281504 [GRCh37]
Chr14:14q21.3		 uncertain significance
GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3 copy number gain not provided [RCV001006632] Chr14:50317272..51627752 [GRCh37]
Chr14:14q21.3-22.1		 uncertain significance
NM_004713.6(NEMF):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001250470] Chr14:49852753 [GRCh38]
Chr14:50319471 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.2777C>T (p.Pro926Leu) single nucleotide variant not provided [RCV001250466] Chr14:49789264 [GRCh38]
Chr14:50255982 [GRCh37]
Chr14:14q21.3		 likely pathogenic
NM_004713.6(NEMF):c.807-2A>C single nucleotide variant Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267817]|See cases [RCV001198080] Chr14:49832128 [GRCh38]
Chr14:50298846 [GRCh37]
Chr14:14q21.3		 pathogenic|likely pathogenic
NM_004713.6(NEMF):c.2608C>T (p.Arg870Ter) single nucleotide variant Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267813] Chr14:49795802 [GRCh38]
Chr14:50262520 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.2014A>T (p.Lys672Ter) single nucleotide variant Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267814] Chr14:49802534 [GRCh38]
Chr14:50269252 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.2871_2875dup (p.Asp959delinsValTer) duplication Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267815]|See cases [RCV003313206] Chr14:49789165..49789166 [GRCh38]
Chr14:50255883..50255884 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.1234_1235insC (p.Asn412fs) insertion Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267818] Chr14:49828805..49828806 [GRCh38]
Chr14:50295523..50295524 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.2618del (p.Lys873fs) deletion Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267816] Chr14:49795792 [GRCh38]
Chr14:50262510 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.574+1G>T single nucleotide variant Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001283802] Chr14:49838138 [GRCh38]
Chr14:50304856 [GRCh37]
Chr14:14q21.3		 likely pathogenic
NM_004713.6(NEMF):c.1235_1236insC (p.Pro413fs) insertion Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001281347] Chr14:49828804..49828805 [GRCh38]
Chr14:50295522..50295523 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.438del (p.Lys146fs) deletion not provided [RCV002251677] Chr14:49840786 [GRCh38]
Chr14:50307504 [GRCh37]
Chr14:14q21.3		 likely pathogenic
NM_004713.6(NEMF):c.2068del (p.Leu690fs) deletion not provided [RCV003238401] Chr14:49802480 [GRCh38]
Chr14:50269198 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.1710T>C (p.His570=) single nucleotide variant not provided [RCV001816136] Chr14:49814022 [GRCh38]
Chr14:50280740 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.2096-2A>G single nucleotide variant Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001814944] Chr14:49800698 [GRCh38]
Chr14:50267416 [GRCh37]
Chr14:14q21.3		 likely pathogenic
GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931) copy number gain not specified [RCV002053098] Chr14:45827312..50529931 [GRCh37]
Chr14:14q21.2-21.3		 uncertain significance
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_004713.6(NEMF):c.2943_2950del (p.Ser982fs) deletion Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV003131043] Chr14:49785299..49785306 [GRCh38]
Chr14:50252017..50252024 [GRCh37]
Chr14:14q21.3		 likely pathogenic
NM_004713.6(NEMF):c.2489C>T (p.Pro830Leu) single nucleotide variant Inborn genetic diseases [RCV003277149] Chr14:49795921 [GRCh38]
Chr14:50262639 [GRCh37]
Chr14:14q21.3		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_004713.6(NEMF):c.1744+6A>G single nucleotide variant Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV002266587] Chr14:49813982 [GRCh38]
Chr14:50280700 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.556G>A (p.Val186Met) single nucleotide variant Inborn genetic diseases [RCV003285574] Chr14:49838157 [GRCh38]
Chr14:50304875 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.488C>A (p.Pro163His) single nucleotide variant Inborn genetic diseases [RCV002905520] Chr14:49840736 [GRCh38]
Chr14:50307454 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1370A>G (p.Lys457Arg) single nucleotide variant Inborn genetic diseases [RCV002773916] Chr14:49828670 [GRCh38]
Chr14:50295388 [GRCh37]
Chr14:14q21.3		 likely benign
NM_014315.3(KLHDC2):c.982G>A (p.Asp328Asn) single nucleotide variant Inborn genetic diseases [RCV002945313] Chr14:49782395 [GRCh38]
Chr14:50249113 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2398G>C (p.Glu800Gln) single nucleotide variant Inborn genetic diseases [RCV002689762] Chr14:49799653 [GRCh38]
Chr14:50266371 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2353T>C (p.Ser785Pro) single nucleotide variant Inborn genetic diseases [RCV002733443] Chr14:49800439 [GRCh38]
Chr14:50267157 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2924A>T (p.Asn975Ile) single nucleotide variant Inborn genetic diseases [RCV002683970] Chr14:49786722 [GRCh38]
Chr14:50253440 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2020dup (p.Arg674fs) duplication Inborn genetic diseases [RCV002774482] Chr14:49802527..49802528 [GRCh38]
Chr14:50269245..50269246 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.2845A>G (p.Ile949Val) single nucleotide variant Inborn genetic diseases [RCV002728519] Chr14:49789196 [GRCh38]
Chr14:50255914 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.782A>G (p.Asp261Gly) single nucleotide variant Inborn genetic diseases [RCV002779321] Chr14:49832231 [GRCh38]
Chr14:50298949 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.991G>A (p.Glu331Lys) single nucleotide variant Inborn genetic diseases [RCV002689093] Chr14:49829381 [GRCh38]
Chr14:50296099 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.3102G>A (p.Met1034Ile) single nucleotide variant Inborn genetic diseases [RCV002848868] Chr14:49784976 [GRCh38]
Chr14:50251694 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.3161A>G (p.Asp1054Gly) single nucleotide variant Inborn genetic diseases [RCV002998186] Chr14:49784706 [GRCh38]
Chr14:50251424 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1410T>G (p.Tyr470Ter) single nucleotide variant not provided [RCV003037188] Chr14:49828630 [GRCh38]
Chr14:50295348 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.3103C>T (p.His1035Tyr) single nucleotide variant Inborn genetic diseases [RCV002845950] Chr14:49784975 [GRCh38]
Chr14:50251693 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2108C>T (p.Thr703Met) single nucleotide variant Inborn genetic diseases [RCV002910808] Chr14:49800684 [GRCh38]
Chr14:50267402 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_014315.3(KLHDC2):c.1152C>A (p.Asn384Lys) single nucleotide variant Inborn genetic diseases [RCV002758462] Chr14:49782884 [GRCh38]
Chr14:50249602 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_014315.3(KLHDC2):c.1096C>T (p.Arg366Trp) single nucleotide variant Inborn genetic diseases [RCV002987185] Chr14:49782593 [GRCh38]
Chr14:50249311 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1271_1276del (p.Val424_Asp425del) deletion Inborn genetic diseases [RCV002697658] Chr14:49828764..49828769 [GRCh38]
Chr14:50295482..50295487 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1285A>C (p.Asn429His) single nucleotide variant Inborn genetic diseases [RCV002983886] Chr14:49828755 [GRCh38]
Chr14:50295473 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.625G>A (p.Gly209Ser) single nucleotide variant Inborn genetic diseases [RCV002892133] Chr14:49834399 [GRCh38]
Chr14:50301117 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2261A>G (p.Tyr754Cys) single nucleotide variant Inborn genetic diseases [RCV002930618] Chr14:49800531 [GRCh38]
Chr14:50267249 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2917C>G (p.Gln973Glu) single nucleotide variant Inborn genetic diseases [RCV002673257] Chr14:49786729 [GRCh38]
Chr14:50253447 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1245G>C (p.Leu415Phe) single nucleotide variant Inborn genetic diseases [RCV002648785] Chr14:49828795 [GRCh38]
Chr14:50295513 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.578A>G (p.Tyr193Cys) single nucleotide variant Inborn genetic diseases [RCV002717552] Chr14:49834446 [GRCh38]
Chr14:50301164 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.166A>G (p.Ile56Val) single nucleotide variant Inborn genetic diseases [RCV002673620] Chr14:49851628 [GRCh38]
Chr14:50318346 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2484dup (p.Leu829fs) duplication not provided [RCV002963243] Chr14:49795925..49795926 [GRCh38]
Chr14:50262643..50262644 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.517del (p.Glu172_Ile173insTer) deletion Inborn genetic diseases [RCV002703111] Chr14:49838196 [GRCh38]
Chr14:50304914 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.3119C>T (p.Thr1040Ile) single nucleotide variant Inborn genetic diseases [RCV002934730] Chr14:49784959 [GRCh38]
Chr14:50251677 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2071A>G (p.Ile691Val) single nucleotide variant Inborn genetic diseases [RCV002808810] Chr14:49802477 [GRCh38]
Chr14:50269195 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2101G>C (p.Gly701Arg) single nucleotide variant Inborn genetic diseases [RCV002809873] Chr14:49800691 [GRCh38]
Chr14:50267409 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2317G>A (p.Glu773Lys) single nucleotide variant Inborn genetic diseases [RCV002746939] Chr14:49800475 [GRCh38]
Chr14:50267193 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.1334_1337del (p.Gln445fs) deletion not provided [RCV003069013] Chr14:49828703..49828706 [GRCh38]
Chr14:50295421..50295424 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.673G>C (p.Val225Leu) single nucleotide variant Inborn genetic diseases [RCV002722772] Chr14:49833485 [GRCh38]
Chr14:50300203 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.832T>A (p.Phe278Ile) single nucleotide variant Inborn genetic diseases [RCV003277548] Chr14:49832101 [GRCh38]
Chr14:50298819 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.3195G>T (p.Val1065=) single nucleotide variant not provided [RCV003393415] Chr14:49784672 [GRCh38]
Chr14:50251390 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.2514G>A (p.Ala838=) single nucleotide variant not provided [RCV003393416] Chr14:49795896 [GRCh38]
Chr14:50262614 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.836C>T (p.Ser279Phe) single nucleotide variant Inborn genetic diseases [RCV003210302] Chr14:49832097 [GRCh38]
Chr14:50298815 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.914G>A (p.Gly305Asp) single nucleotide variant Inborn genetic diseases [RCV003173361] Chr14:49831330 [GRCh38]
Chr14:50298048 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1132A>G (p.Ile378Val) single nucleotide variant Inborn genetic diseases [RCV003197871] Chr14:49829154 [GRCh38]
Chr14:50295872 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.884C>T (p.Ala295Val) single nucleotide variant Inborn genetic diseases [RCV003200106] Chr14:49831360 [GRCh38]
Chr14:50298078 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.8G>T (p.Ser3Ile) single nucleotide variant Inborn genetic diseases [RCV003201106] Chr14:49852746 [GRCh38]
Chr14:50319464 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.3101T>C (p.Met1034Thr) single nucleotide variant Inborn genetic diseases [RCV003309805] Chr14:49784977 [GRCh38]
Chr14:50251695 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.662A>T (p.Asp221Val) single nucleotide variant Inborn genetic diseases [RCV003263112] Chr14:49833496 [GRCh38]
Chr14:50300214 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.235C>T (p.Arg79Ter) single nucleotide variant not provided [RCV003319637] Chr14:49846262 [GRCh38]
Chr14:50312980 [GRCh37]
Chr14:14q21.3		 likely pathogenic
NM_004713.6(NEMF):c.1dup (p.Met1fs) duplication not provided [RCV003328734] Chr14:49852752..49852753 [GRCh38]
Chr14:50319470..50319471 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.2580A>C (p.Lys860Asn) single nucleotide variant not provided [RCV003334163] Chr14:49795830 [GRCh38]
Chr14:50262548 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.1409A>T (p.Tyr470Phe) single nucleotide variant Inborn genetic diseases [RCV003373745] Chr14:49828631 [GRCh38]
Chr14:50295349 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.1231A>G (p.Arg411Gly) single nucleotide variant Inborn genetic diseases [RCV003368522] Chr14:49829055 [GRCh38]
Chr14:50295773 [GRCh37]
Chr14:14q21.3		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_004713.6(NEMF):c.1745-1265_1745-1260del deletion not provided [RCV003393418] Chr14:49807393..49807398 [GRCh38]
Chr14:50274111..50274116 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.2565T>C (p.His855=) single nucleotide variant not provided [RCV003390391] Chr14:49795845 [GRCh38]
Chr14:50262563 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.454C>T (p.Arg152Cys) single nucleotide variant not provided [RCV003390392] Chr14:49840770 [GRCh38]
Chr14:50307488 [GRCh37]
Chr14:14q21.3		 uncertain significance
NM_004713.6(NEMF):c.33C>T (p.Arg11=) single nucleotide variant not provided [RCV003390393] Chr14:49852721 [GRCh38]
Chr14:50319439 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.1745-1267T>C single nucleotide variant not provided [RCV003393419] Chr14:49807400 [GRCh38]
Chr14:50274118 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.1336_1340del (p.Gln445_Lys446insTer) deletion NEMF-related condition [RCV003402446] Chr14:49828700..49828704 [GRCh38]
Chr14:50295418..50295422 [GRCh37]
Chr14:14q21.3		 likely pathogenic
NM_004713.6(NEMF):c.1858-8T>A single nucleotide variant NEMF-related condition [RCV003966360]|not provided [RCV003393417] Chr14:49803302 [GRCh38]
Chr14:50270020 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.1915+8C>T single nucleotide variant not provided [RCV003886241] Chr14:49803229 [GRCh38]
Chr14:50269947 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.1232+4A>G single nucleotide variant NEMF-related condition [RCV003939418] Chr14:49829050 [GRCh38]
Chr14:50295768 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.1158G>A (p.Gln386=) single nucleotide variant NEMF-related condition [RCV003939587] Chr14:49829128 [GRCh38]
Chr14:50295846 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.358-7A>G single nucleotide variant NEMF-related condition [RCV003917403] Chr14:49840873 [GRCh38]
Chr14:50307591 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.1066C>T (p.Gln356Ter) single nucleotide variant Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV003988280] Chr14:49829220 [GRCh38]
Chr14:50295938 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_004713.6(NEMF):c.1446T>C (p.Tyr482=) single nucleotide variant NEMF-related condition [RCV003958978] Chr14:49828333 [GRCh38]
Chr14:50295051 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.1752C>T (p.Pro584=) single nucleotide variant NEMF-related condition [RCV003924221] Chr14:49806126 [GRCh38]
Chr14:50272844 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.1512A>G (p.Lys504=) single nucleotide variant NEMF-related condition [RCV003911387] Chr14:49825932 [GRCh38]
Chr14:50292650 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.2832G>A (p.Pro944=) single nucleotide variant NEMF-related condition [RCV003976765] Chr14:49789209 [GRCh38]
Chr14:50255927 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.232-9T>C single nucleotide variant NEMF-related condition [RCV003919710] Chr14:49846274 [GRCh38]
Chr14:50312992 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.1755C>A (p.Ile585=) single nucleotide variant NEMF-related condition [RCV003932187] Chr14:49806123 [GRCh38]
Chr14:50272841 [GRCh37]
Chr14:14q21.3		 benign
NM_004713.6(NEMF):c.846A>C (p.Ser282=) single nucleotide variant NEMF-related condition [RCV003934209] Chr14:49832087 [GRCh38]
Chr14:50298805 [GRCh37]
Chr14:14q21.3		 likely benign
NM_004713.6(NEMF):c.2451A>T (p.Ser817=) single nucleotide variant NEMF-related condition [RCV003894746] Chr14:49799489 [GRCh38]
Chr14:50266207 [GRCh37]
Chr14:14q21.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2254
Count of miRNA genes:811
Interacting mature miRNAs:927
Transcripts:ENST00000298310, ENST00000382135, ENST00000545773, ENST00000546046, ENST00000553696, ENST00000554162, ENST00000554275, ENST00000554626, ENST00000555411, ENST00000555863, ENST00000555970, ENST00000556074, ENST00000556672, ENST00000556691, ENST00000556882, ENST00000556925, ENST00000557193, ENST00000557380
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D14S1031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,311,285 - 50,311,526UniSTSGRCh37
Build 361449,381,035 - 49,381,276RGDNCBI36
Celera1430,178,454 - 30,178,689RGD
Cytogenetic Map14q22UniSTS
HuRef1430,436,280 - 30,436,515UniSTS
Marshfield Genetic Map1452.49UniSTS
Marshfield Genetic Map1452.49RGD
Genethon Genetic Map1443.6UniSTS
deCODE Assembly Map1446.6UniSTS
RH91823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,256,311 - 50,256,413UniSTSGRCh37
Build 361449,326,061 - 49,326,163RGDNCBI36
Celera1430,124,009 - 30,124,111RGD
Cytogenetic Map14q22UniSTS
HuRef1430,381,538 - 30,381,640UniSTS
GeneMap99-GB4 RH Map14113.3UniSTS
RH93701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,250,199 - 50,250,377UniSTSGRCh37
Build 361449,319,949 - 49,320,127RGDNCBI36
Celera1430,117,895 - 30,118,073RGD
Cytogenetic Map14q22UniSTS
HuRef1430,375,424 - 30,375,602UniSTS
GeneMap99-GB4 RH Map14110.67UniSTS
RH93404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,295,461 - 50,295,927UniSTSGRCh37
Build 361449,365,211 - 49,365,677RGDNCBI36
Celera1430,162,631 - 30,163,097RGD
Cytogenetic Map14q22UniSTS
HuRef1430,420,457 - 30,420,923UniSTS
GeneMap99-GB4 RH Map14113.3UniSTS
AL033648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,254,372 - 50,254,560UniSTSGRCh37
Build 361449,324,122 - 49,324,310RGDNCBI36
Celera1430,122,070 - 30,122,258RGD
Cytogenetic Map14q22UniSTS
HuRef1430,379,599 - 30,379,787UniSTS
RH41907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,252,907 - 50,253,059UniSTSGRCh37
Build 361449,322,657 - 49,322,809RGDNCBI36
Celera1430,120,605 - 30,120,757RGD
Cytogenetic Map14q22UniSTS
HuRef1430,378,134 - 30,378,286UniSTS
GeneMap99-GB4 RH Map14113.3UniSTS
NCBI RH Map14461.5UniSTS
G29185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,262,594 - 50,262,741UniSTSGRCh37
Build 361449,332,344 - 49,332,491RGDNCBI36
Celera1430,130,290 - 30,130,437RGD
Cytogenetic Map14q22UniSTS
HuRef1430,387,815 - 30,387,962UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS


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 1802 1401 1203 224 1015 88 3792 1323 2147 248 1265 1533 152 1 1072 2377 6 2
Low 637 1569 523 400 917 377 564 872 1586 171 195 80 23 132 411
Below cutoff 21 19 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_943557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA602297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF039687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM477286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM835709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB112336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA899175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC382921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC396239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000298310   ⟹   ENSP00000298310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,782,083 - 49,852,788 (-)Ensembl
RefSeq Acc Id: ENST00000553696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,828,292 - 49,829,350 (-)Ensembl
RefSeq Acc Id: ENST00000554162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,846,139 - 49,852,808 (-)Ensembl
RefSeq Acc Id: ENST00000554275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,784,905 - 49,787,174 (-)Ensembl
RefSeq Acc Id: ENST00000554626   ⟹   ENSP00000451740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,834,363 - 49,852,788 (-)Ensembl
RefSeq Acc Id: ENST00000555411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,800,651 - 49,825,938 (-)Ensembl
RefSeq Acc Id: ENST00000555863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,789,496 - 49,796,314 (-)Ensembl
RefSeq Acc Id: ENST00000555970   ⟹   ENSP00000452540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,784,956 - 49,852,786 (-)Ensembl
RefSeq Acc Id: ENST00000556074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,783,815 - 49,801,519 (-)Ensembl
RefSeq Acc Id: ENST00000556672   ⟹   ENSP00000452174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,845,975 - 49,852,821 (-)Ensembl
RefSeq Acc Id: ENST00000556691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,783,814 - 49,800,800 (-)Ensembl
RefSeq Acc Id: ENST00000556882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,828,613 - 49,829,264 (-)Ensembl
RefSeq Acc Id: ENST00000556925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,783,828 - 49,832,253 (-)Ensembl
RefSeq Acc Id: ENST00000557193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,784,656 - 49,785,774 (-)Ensembl
RefSeq Acc Id: ENST00000557380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,820,096 - 49,852,780 (-)Ensembl
RefSeq Acc Id: NM_001301732   ⟹   NP_001288661
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,782,083 - 49,852,788 (-)NCBI
CHM1_11450,189,108 - 50,258,049 (-)NCBI
T2T-CHM13v2.01443,987,877 - 44,058,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004713   ⟹   NP_004704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,782,083 - 49,852,788 (-)NCBI
GRCh371450,250,528 - 50,319,763 (-)NCBI
Build 361449,320,282 - 49,389,289 (-)NCBI Archive
Celera1430,118,228 - 30,186,686 (-)RGD
HuRef1430,375,757 - 30,444,509 (-)RGD
CHM1_11450,189,108 - 50,258,049 (-)NCBI
T2T-CHM13v2.01443,987,877 - 44,058,011 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537317   ⟹   XP_011535619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,807,366 - 49,852,788 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537318   ⟹   XP_011535620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,814,864 - 49,852,788 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021761   ⟹   XP_016877250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,782,083 - 49,838,114 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431911   ⟹   XP_047287867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,785,220 - 49,852,788 (-)NCBI
RefSeq Acc Id: XM_047431912   ⟹   XP_047287868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,782,083 - 49,838,211 (-)NCBI
RefSeq Acc Id: XM_054376962   ⟹   XP_054232937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01443,991,010 - 44,058,011 (-)NCBI
RefSeq Acc Id: XM_054376963   ⟹   XP_054232938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01443,987,877 - 44,043,459 (-)NCBI
RefSeq Acc Id: XM_054376964   ⟹   XP_054232939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01443,987,877 - 44,043,362 (-)NCBI
RefSeq Acc Id: XM_054376965   ⟹   XP_054232940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,013,165 - 44,058,011 (-)NCBI
RefSeq Acc Id: XM_054376966   ⟹   XP_054232941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,020,654 - 44,058,011 (-)NCBI
RefSeq Acc Id: XR_008488899
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,001,574 - 44,058,011 (-)NCBI
RefSeq Acc Id: XR_943557
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,795,792 - 49,852,788 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001288661 (Get FASTA)   NCBI Sequence Viewer  
  NP_004704 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535619 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535620 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877250 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287867 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287868 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232937 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232938 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232939 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232940 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232941 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC18036 (Get FASTA)   NCBI Sequence Viewer  
  AAH06001 (Get FASTA)   NCBI Sequence Viewer  
  AAH20794 (Get FASTA)   NCBI Sequence Viewer  
  AAH56687 (Get FASTA)   NCBI Sequence Viewer  
  AAH64364 (Get FASTA)   NCBI Sequence Viewer  
  AAI07765 (Get FASTA)   NCBI Sequence Viewer  
  BAG52763 (Get FASTA)   NCBI Sequence Viewer  
  BAG56774 (Get FASTA)   NCBI Sequence Viewer  
  BAG58070 (Get FASTA)   NCBI Sequence Viewer  
  BAG65465 (Get FASTA)   NCBI Sequence Viewer  
  CAE45886 (Get FASTA)   NCBI Sequence Viewer  
  CAE45889 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43274 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43275 (Get FASTA)   NCBI Sequence Viewer  
  EAW65741 (Get FASTA)   NCBI Sequence Viewer  
  EAW65742 (Get FASTA)   NCBI Sequence Viewer  
  EAW65743 (Get FASTA)   NCBI Sequence Viewer  
  EAW65744 (Get FASTA)   NCBI Sequence Viewer  
  EAW65745 (Get FASTA)   NCBI Sequence Viewer  
  EAW65746 (Get FASTA)   NCBI Sequence Viewer  
  EAW65747 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000298310
  ENSP00000298310.5
  ENSP00000451740.1
  ENSP00000452174.1
  ENSP00000452540
  ENSP00000452540.1
GenBank Protein O60524 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004704   ⟸   NM_004713
- Peptide Label: isoform 1
- UniProtKB: Q8WW70 (UniProtKB/Swiss-Prot),   Q32Q66 (UniProtKB/Swiss-Prot),   O60524 (UniProtKB/Swiss-Prot),   B4E3F3 (UniProtKB/Swiss-Prot),   B4DHA9 (UniProtKB/Swiss-Prot),   B4DDL3 (UniProtKB/Swiss-Prot),   B3KSK1 (UniProtKB/Swiss-Prot),   A0JLQ3 (UniProtKB/Swiss-Prot),   Q9NWG1 (UniProtKB/Swiss-Prot),   G3V5V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288661   ⟸   NM_001301732
- Peptide Label: isoform 2
- UniProtKB: G3V5V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535619   ⟸   XM_011537317
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011535620   ⟸   XM_011537318
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016877250   ⟸   XM_017021761
- Peptide Label: isoform X2
- UniProtKB: G3V5V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000452540   ⟸   ENST00000555970
RefSeq Acc Id: ENSP00000452174   ⟸   ENST00000556672
RefSeq Acc Id: ENSP00000298310   ⟸   ENST00000298310
RefSeq Acc Id: ENSP00000451740   ⟸   ENST00000554626
RefSeq Acc Id: XP_047287868   ⟸   XM_047431912
- Peptide Label: isoform X2
- UniProtKB: G3V5V3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287867   ⟸   XM_047431911
- Peptide Label: isoform X1
- UniProtKB: G3V5V3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232938   ⟸   XM_054376963
- Peptide Label: isoform X2
- UniProtKB: G3V5V3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232939   ⟸   XM_054376964
- Peptide Label: isoform X2
- UniProtKB: G3V5V3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232937   ⟸   XM_054376962
- Peptide Label: isoform X1
- UniProtKB: G3V5V3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232940   ⟸   XM_054376965
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054232941   ⟸   XM_054376966
- Peptide Label: isoform X4
Protein Domains
NFACT protein C-terminal   NFACT RNA-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60524-F1-model_v2 AlphaFold O60524 1-1076 view protein structure

Promoters
RGD ID:6810673
Promoter ID:HG_ACW:22666
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SDCCAG1.SAPR07,   SDCCAG1.VAAPR07,   ZAWBABY.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361449,322,671 - 49,323,171 (-)MPROMDB
RGD ID:6791871
Promoter ID:HG_KWN:19321
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000276868,   UC001WXE.1,   UC010ANJ.1,   UC010ANQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361449,388,966 - 49,389,466 (-)MPROMDB
RGD ID:7227533
Promoter ID:EPDNEW_H19512
Type:initiation region
Name:NEMF_1
Description:nuclear export mediator factor
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
GRCh381449,852,776 - 49,852,836EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10663 AgrOrtholog
COSMIC NEMF COSMIC
Ensembl Genes ENSG00000165525 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000298310 ENTREZGENE
  ENST00000298310.10 UniProtKB/Swiss-Prot
  ENST00000554626.5 UniProtKB/TrEMBL
  ENST00000555970 ENTREZGENE
  ENST00000555970.5 UniProtKB/TrEMBL
  ENST00000556672.1 UniProtKB/TrEMBL
Gene3D-CATH ibrinogen binding protein from staphylococcus aureus domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165525 GTEx
HGNC ID HGNC:10663 ENTREZGENE
Human Proteome Map NEMF Human Proteome Map
InterPro NFACT-C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NFACT_RNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9147 UniProtKB/Swiss-Prot
NCBI Gene 9147 ENTREZGENE
OMIM 608378 OMIM
PANTHER NUCLEAR EXPORT MEDIATOR FACTOR NEMF UniProtKB/Swiss-Prot
  NUCLEAR EXPORT MEDIATOR FACTOR NEMF UniProtKB/Swiss-Prot
  NUCLEAR EXPORT MEDIATOR FACTOR NEMF UniProtKB/TrEMBL
  NUCLEAR EXPORT MEDIATOR FACTOR NEMF UniProtKB/TrEMBL
Pfam NFACT-C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NFACT-R_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NFACT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35593 PharmGKB
UniProt A0JLQ3 ENTREZGENE
  B3KSK1 ENTREZGENE
  B4DDL3 ENTREZGENE
  B4DHA9 ENTREZGENE
  B4E3F3 ENTREZGENE
  G3V4D9_HUMAN UniProtKB/TrEMBL
  G3V547_HUMAN UniProtKB/TrEMBL
  G3V5V3 ENTREZGENE, UniProtKB/TrEMBL
  L8E7P7_HUMAN UniProtKB/TrEMBL
  L8E842_HUMAN UniProtKB/TrEMBL
  NEMF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q32Q66 ENTREZGENE
  Q8WW70 ENTREZGENE
  Q9NWG1 ENTREZGENE
UniProt Secondary A0JLQ3 UniProtKB/Swiss-Prot
  B3KSK1 UniProtKB/Swiss-Prot
  B4DDL3 UniProtKB/Swiss-Prot
  B4DHA9 UniProtKB/Swiss-Prot
  B4E3F3 UniProtKB/Swiss-Prot
  Q32Q66 UniProtKB/Swiss-Prot
  Q8WW70 UniProtKB/Swiss-Prot
  Q9NWG1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 NEMF  nuclear export mediator factor  SDCCAG1  serologically defined colon cancer antigen 1  Symbol and/or name change 5135510 APPROVED