NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) - Rat Genome Database

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Gene: NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) Homo sapiens
Analyze
Symbol: NDUFAF5
Name: NADH:ubiquinone oxidoreductase complex assembly factor 5
RGD ID: 1603963
HGNC Page HGNC:15899
Description: Predicted to enable monooxygenase activity. Involved in mitochondrial respiratory chain complex I assembly. Located in matrix side of mitochondrial inner membrane. Implicated in nuclear type mitochondrial complex I deficiency 16.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: arginine-hydroxylase NDUFAF5, mitochondrial; bA526K24.2; C20orf7; dJ842G6.1; FLJ22324; MC1DN16; MGC90272; NADH dehydrogenase (ubiquinone) complex I, assembly factor 5; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; probable methyltransferase C20orf7, mitochondrial; putative methyltransferase NDUFAF5
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
GRCh382013,785,028 - 13,821,580 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2013,785,007 - 13,821,580 (+)EnsemblGRCh38hg38GRCh38
GRCh372013,765,674 - 13,802,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362013,713,682 - 13,745,874 (+)NCBINCBI36Build 36hg18NCBI36
Celera2013,835,718 - 13,869,123 (+)NCBICelera
Cytogenetic Map20p12.1NCBI
HuRef2013,720,309 - 13,753,711 (+)NCBIHuRef
CHM1_12013,765,617 - 13,799,023 (+)NCBICHM1_1
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 20 of 56 rows
Object Symbol
Species
Term
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Evidence
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Reference
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Source
Original Reference(s)
NDUFAF5Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:30473481
NDUFAF5Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
NDUFAF5Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
NDUFAF5Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 more ...
NDUFAF5Humangenetic disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868
NDUFAF5Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25326635 more ...
NDUFAF5HumanLeber plus disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leber plus diseaseClinVarPMID:25741868
NDUFAF5HumanLeber plus disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leber plus diseaseClinVar 
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh's diseaseClinVarPMID:17576681 more ...
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh's diseaseClinVarPMID:25741868 more ...
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh syndromeClinVarPMID:34177781 and PMID:35094435
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh syndromeClinVarPMID:16199547 more ...
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Leigh syndromeClinVar 
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh's diseaseClinVarPMID:25326635 more ...
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh's diseaseClinVarPMID:25741868 more ...
NDUFAF5HumanLeigh disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Leigh's diseaseClinVarPMID:25741868 more ...
NDUFAF5Humanmitochondrial complex I deficiency  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
1 to 20 of 56 rows
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Original Reference(s)
NDUFAF5Humannuclear type mitochondrial complex I deficiency 16  IAGP 7240710 OMIM 

1 to 20 of 29 rows

  
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Original Reference(s)
NDUFAF5Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISONdufaf5 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of NDUFAF5 mRNACTDPMID:33387578
NDUFAF5Human3,4-methylenedioxymethamphetamine decreases expressionISONdufaf5 (Rattus norvegicus)6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of NDUFAF5 mRNACTDPMID:30071829
NDUFAF5Humanaconitine increases expressionISONdufaf5 (Rattus norvegicus)6480464Aconitine results in increased expression of NDUFAF5 proteinCTDPMID:33236894
NDUFAF5Humanarsane affects methylationEXP 6480464Arsenic affects the methylation of NDUFAF5 geneCTDPMID:25304211
NDUFAF5Humanarsane multiple interactionsEXP 6480464[sodium arsenite results in increased abundance of Arsenic] which results in increased expression of NDUFAF5 mRNACTDPMID:39836092
NDUFAF5Humanarsenic atom affects methylationEXP 6480464Arsenic affects the methylation of NDUFAF5 geneCTDPMID:25304211
NDUFAF5Humanarsenic atom multiple interactionsEXP 6480464[sodium arsenite results in increased abundance of Arsenic] which results in increased expression of NDUFAF5 mRNACTDPMID:39836092
NDUFAF5Humanarsenite(3-) increases methylationEXP 6480464arsenite results in increased methylation of NDUFAF5 promoterCTDPMID:23974009
NDUFAF5Humanbeta-lapachone increases expressionEXP 6480464beta-lapachone results in increased expression of NDUFAF5 mRNACTDPMID:38218311
NDUFAF5Humanbisphenol A increases expressionISONdufaf5 (Rattus norvegicus)6480464bisphenol A results in increased expression of NDUFAF5 mRNACTDPMID:25181051
NDUFAF5Humanbisphenol A affects methylationISONdufaf5 (Mus musculus)6480464bisphenol A affects the methylation of NDUFAF5 promoterCTDPMID:27334623
NDUFAF5Humancadmium dichloride decreases expressionEXP 6480464Cadmium Chloride results in decreased expression of NDUFAF5 mRNACTDPMID:38382870 and PMID:38568856
NDUFAF5HumanDibutyl phosphate affects expressionEXP 6480464di-n-butylphosphoric acid affects the expression of NDUFAF5 mRNACTDPMID:37042841
NDUFAF5Humandicrotophos decreases expressionEXP 6480464dicrotophos results in decreased expression of NDUFAF5 mRNACTDPMID:28302478
NDUFAF5Humandoxorubicin decreases expressionISONdufaf5 (Mus musculus)6480464Doxorubicin results in decreased expression of NDUFAF5 mRNACTDPMID:28608983
NDUFAF5Humanethanol increases expressionISONdufaf5 (Mus musculus)6480464Ethanol results in increased expression of NDUFAF5 mRNACTDPMID:30319688
NDUFAF5Humanleflunomide increases expressionEXP 6480464leflunomide results in increased expression of NDUFAF5 mRNACTDPMID:28988120 and PMID:29427785
NDUFAF5Humanlipopolysaccharide multiple interactionsEXP 6480464[Acetaminophen co-treated with Lipopolysaccharides] results in decreased expression of NDUFAF5 mRNACTDPMID:31059760
NDUFAF5Humanmethyl methanesulfonate increases expressionEXP 6480464Methyl Methanesulfonate results in increased expression of NDUFAF5 mRNACTDPMID:23649840
NDUFAF5Humannickel sulfate decreases expressionEXP 6480464nickel sulfate results in decreased expression of NDUFAF5 mRNACTDPMID:22714537

1 to 20 of 29 rows

Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
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Source
Original Reference(s)
NDUFAF5Humanmethylation involved_inIEAUniProtKB-KW:KW-0489150520179 UniProtGO_REF:0000043
NDUFAF5Humanmitochondrial respiratory chain complex I assembly involved_inIMP 150520179 PMID:18940309 and PMID:27226634UniProtPMID:18940309 and PMID:27226634
NDUFAF5Humanmitochondrial respiratory chain complex I assembly involved_inIBAPANTHER:PTN000317992 more ...150520179 GO_CentralGO_REF:0000033

Cellular Component
1 to 9 of 9 rows

  
Object Symbol
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Original Reference(s)
NDUFAF5Humanmatrix side of mitochondrial inner membrane located_inIDA 150520179 PMID:18940309UniProtPMID:18940309
NDUFAF5Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
NDUFAF5Humanmitochondrial inner membrane located_inIEAUniProtKB-KW:KW-0999150520179 UniProtGO_REF:0000043
NDUFAF5Humanmitochondrial inner membrane located_inIEAUniProtKB-SubCell:SL-0168150520179 UniProtGO_REF:0000044
NDUFAF5Humanmitochondrial inner membrane located_inTAS 150520179 ReactomeReactome:R-HSA-6799179 more ...
NDUFAF5Humanmitochondrion located_inHTP 150520179 PMID:34800366FlyBasePMID:34800366
NDUFAF5Humanmitochondrion is_active_inIBAPANTHER:PTN000317992 more ...150520179 GO_CentralGO_REF:0000033
NDUFAF5Humanmitochondrion located_inIDA 150520179 PMID:27226634UniProtPMID:27226634
NDUFAF5Humanmitochondrion located_inIEAUniProtKB-KW:KW-0496150520179 UniProtGO_REF:0000043
1 to 9 of 9 rows

Molecular Function

  

1 to 20 of 61 rows
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
NDUFAF5HumanAbnormal mitochondria in muscle tissue  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanAdrenal insufficiency  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanAgenesis of corpus callosum  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanAplasia of the left hemidiaphragm  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanAtaxia  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanBlindness  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanCaudate atrophy  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanChoreoathetosis  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanDecreased activity of mitochondrial complex I  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanDecreased activity of mitochondrial complex I  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanDiabetes mellitus  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanDysarthria  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanDystonia  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanEncephalopathy  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanFailure to thrive  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanFailure to thrive  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanFeeding difficulties  IAGP 8699517 HPOORPHA:2609
NDUFAF5HumanFeeding difficulties  IAGP 8699517 HPOMIM:618238
NDUFAF5HumanFetal distress  IAGP 8699517 HPOORPHA:2609
1 to 20 of 61 rows

#
Reference Title
Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
PMID:12477932   PMID:14702039   PMID:15146197   PMID:16344560   PMID:16712791   PMID:17207965   PMID:18940309   PMID:19542079   PMID:20379614   PMID:21607760   PMID:21873635   PMID:24344204  
PMID:26186194   PMID:26425749   PMID:27226634   PMID:27499296   PMID:28162770   PMID:28380382   PMID:28514442   PMID:29229926   PMID:29395067   PMID:29568061   PMID:30473481   PMID:31056398  
PMID:31617661   PMID:31871319   PMID:32628020   PMID:32694731   PMID:32877691   PMID:32918965   PMID:33403043   PMID:33961781   PMID:34079125   PMID:34800366   PMID:35337019   PMID:35614220  
PMID:35831314   PMID:36421786   PMID:37718619   PMID:37752895  



NDUFAF5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382013,785,028 - 13,821,580 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2013,785,007 - 13,821,580 (+)EnsemblGRCh38hg38GRCh38
GRCh372013,765,674 - 13,802,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362013,713,682 - 13,745,874 (+)NCBINCBI36Build 36hg18NCBI36
Celera2013,835,718 - 13,869,123 (+)NCBICelera
Cytogenetic Map20p12.1NCBI
HuRef2013,720,309 - 13,753,711 (+)NCBIHuRef
CHM1_12013,765,617 - 13,799,023 (+)NCBICHM1_1
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBIT2T-CHM13v2.0
Ndufaf5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392140,012,504 - 140,047,172 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2140,012,569 - 140,045,609 (+)EnsemblGRCm39 Ensembl
GRCm382140,170,584 - 140,218,965 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2140,170,649 - 140,203,689 (+)EnsemblGRCm38mm10GRCm38
MGSCv372139,996,382 - 140,030,988 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362139,862,471 - 139,895,073 (+)NCBIMGSCv36mm8
Celera2141,356,217 - 141,391,065 (+)NCBICelera
Cytogenetic Map2F3NCBI
cM Map269.2NCBI
Ndufaf5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83147,961,612 - 147,991,128 (+)NCBIGRCr8
mRatBN7.23127,507,931 - 127,537,477 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3127,507,941 - 127,537,477 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3131,371,136 - 131,400,649 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03139,955,232 - 139,984,745 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03137,658,373 - 137,687,888 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03133,232,412 - 133,261,932 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3133,232,432 - 133,261,973 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03139,688,300 - 139,717,717 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43128,353,866 - 128,384,213 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13128,259,473 - 128,289,786 (+)NCBI
Celera3126,154,809 - 126,184,287 (+)NCBICelera
Cytogenetic Map3q41NCBI
Ndufaf5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541523,221,084 - 23,262,073 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541523,221,084 - 23,263,548 (+)NCBIChiLan1.0ChiLan1.0
NDUFAF5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22114,679,233 - 14,715,055 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12014,675,994 - 14,724,032 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02013,751,315 - 13,788,024 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12013,735,768 - 13,769,147 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2013,735,798 - 13,768,671 (+)Ensemblpanpan1.1panPan2
NDUFAF5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1248,810,682 - 8,873,212 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl248,837,253 - 8,873,176 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha248,621,611 - 8,684,816 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0249,249,725 - 9,285,751 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl249,247,744 - 9,285,708 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1248,822,205 - 8,885,310 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0248,918,663 - 8,981,572 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0249,267,158 - 9,330,256 (-)NCBIUU_Cfam_GSD_1.0
Ndufaf5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640157,563,024 - 157,593,648 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364855,992,668 - 6,025,467 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364855,994,388 - 6,025,042 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFAF5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1722,480,340 - 22,511,180 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11722,480,344 - 22,508,804 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21725,160,198 - 25,188,788 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFAF5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1242,670,613 - 42,706,341 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl242,670,421 - 42,711,024 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660542,946,890 - 2,982,616 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufaf5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474114,778,109 - 14,823,893 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474114,778,126 - 14,824,079 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in NDUFAF5
482 total Variants

1 to 10 of 569 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV000000600]|Mitochondrial complex I deficiency [RCV001831498]|not provided [RCV001376922] Chr20:13801652 [GRCh38]
Chr20:13782298 [GRCh37]
Chr20:20p12.1		 pathogenic|likely pathogenic
NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV000000601] Chr20:13794939 [GRCh38]
Chr20:13775585 [GRCh37]
Chr20:20p12.1		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p12.1-11.23(chr20:13160260-17910332)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|See cases [RCV000052740] Chr20:13160260..17910332 [GRCh38]
Chr20:13140907..17890976 [GRCh37]
Chr20:13088907..17838976 [NCBI36]
Chr20:20p12.1-11.23		 pathogenic
GRCh38/hg38 20p12.1(chr20:13599877-13834151)x3 copy number gain See cases [RCV000052762] Chr20:13599877..13834151 [GRCh38]
Chr20:13580524..13814797 [GRCh37]
Chr20:13528524..13762797 [NCBI36]
Chr20:20p12.1		 uncertain significance
GRCh38/hg38 20p12.1(chr20:13651844-14453786)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052763]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052763]|See cases [RCV000052763] Chr20:13651844..14453786 [GRCh38]
Chr20:13632491..14434432 [GRCh37]
Chr20:13580491..14382432 [NCBI36]
Chr20:20p12.1		 uncertain significance
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
1 to 10 of 569 rows

Predicted Target Of
Summary Value
Count of predictions:2158
Count of miRNA genes:821
Interacting mature miRNAs:957
Transcripts:ENST00000378081, ENST00000378106, ENST00000463598, ENST00000464269, ENST00000469177, ENST00000475968, ENST00000476124, ENST00000476200, ENST00000476536, ENST00000477732, ENST00000479682, ENST00000479716, ENST00000481249, ENST00000485738, ENST00000486772, ENST00000487478
Prediction methods: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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1643385BW311_HBody weight QTL 311 (human)3.310.0001Body fat amount20734547523289549Human
1643383BW312_HBody weight QTL 312 (human)2.920.0004Body fat amountpercent fat20734547523289549Human

SGC38153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372013,789,153 - 13,789,410UniSTSGRCh37
Build 362013,737,153 - 13,737,410RGDNCBI36
Celera2013,859,199 - 13,859,456RGD
Cytogenetic Map20p12.1UniSTS
HuRef2013,743,787 - 13,744,044UniSTS
GeneMap99-GB4 RH Map2077.38UniSTS
Whitehead-RH Map2081.3UniSTS
RH45884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372013,789,413 - 13,789,537UniSTSGRCh37
Build 362013,737,413 - 13,737,537RGDNCBI36
Celera2013,859,459 - 13,859,583RGD
Cytogenetic Map20p12.1UniSTS
HuRef2013,744,047 - 13,744,171UniSTS
GeneMap99-GB4 RH Map2075.95UniSTS




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 6 623 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1


1 to 30 of 48 rows
RefSeq Transcripts NG_015811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_029377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 48 rows

Ensembl Acc Id: ENST00000378081   ⟹   ENSP00000437325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,785,007 - 13,818,421 (+)Ensembl
Ensembl Acc Id: ENST00000378106   ⟹   ENSP00000367346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,785,028 - 13,821,580 (+)Ensembl
Ensembl Acc Id: ENST00000463598   ⟹   ENSP00000420497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,785,050 - 13,817,228 (+)Ensembl
Ensembl Acc Id: ENST00000464269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,793,180 - 13,809,001 (+)Ensembl
Ensembl Acc Id: ENST00000469177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,787,152 - 13,794,850 (+)Ensembl
Ensembl Acc Id: ENST00000475968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,785,088 - 13,817,228 (+)Ensembl
Ensembl Acc Id: ENST00000476124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,801,568 - 13,803,421 (+)Ensembl
Ensembl Acc Id: ENST00000476200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,814,077 - 13,817,228 (+)Ensembl
Ensembl Acc Id: ENST00000476536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,787,150 - 13,812,995 (+)Ensembl
Ensembl Acc Id: ENST00000477732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,785,086 - 13,808,891 (+)Ensembl
Ensembl Acc Id: ENST00000479682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,816,065 - 13,817,228 (+)Ensembl
Ensembl Acc Id: ENST00000479716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,798,461 - 13,817,228 (+)Ensembl
Ensembl Acc Id: ENST00000481249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,785,088 - 13,814,438 (+)Ensembl
Ensembl Acc Id: ENST00000485738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,785,070 - 13,808,865 (+)Ensembl
Ensembl Acc Id: ENST00000486772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,816,658 - 13,817,228 (+)Ensembl
Ensembl Acc Id: ENST00000487478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2013,801,543 - 13,817,228 (+)Ensembl
RefSeq Acc Id: NM_001039375   ⟹   NP_001034464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
GRCh372013,765,672 - 13,799,067 (+)RGD
Build 362013,713,682 - 13,745,874 (+)NCBI Archive
Celera2013,835,718 - 13,869,123 (+)RGD
HuRef2013,720,309 - 13,753,711 (+)RGD
CHM1_12013,765,617 - 13,799,023 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352403   ⟹   NP_001339332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352406   ⟹   NP_001339335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352407   ⟹   NP_001339336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352408   ⟹   NP_001339337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,803,416 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,847,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024120   ⟹   NP_077025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
GRCh372013,765,672 - 13,799,067 (+)RGD
Build 362013,713,682 - 13,745,874 (+)NCBI Archive
Celera2013,835,718 - 13,869,123 (+)RGD
HuRef2013,720,309 - 13,753,711 (+)RGD
CHM1_12013,765,617 - 13,799,023 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NR_029377
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
GRCh372013,765,672 - 13,799,067 (+)RGD
Celera2013,835,718 - 13,869,123 (+)RGD
HuRef2013,720,309 - 13,753,711 (+)RGD
CHM1_12013,765,617 - 13,799,023 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147978
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147979
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147980
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147981
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147982
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147983
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723624   ⟹   XP_006723687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529342   ⟹   XP_011527644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,803,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440469   ⟹   XP_047296425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
RefSeq Acc Id: XM_047440470   ⟹   XP_047296426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,808,902 (+)NCBI
RefSeq Acc Id: XM_047440471   ⟹   XP_047296427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,786,350 - 13,821,580 (+)NCBI
RefSeq Acc Id: XM_047440472   ⟹   XP_047296428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,786,350 - 13,821,580 (+)NCBI
RefSeq Acc Id: XM_047440473   ⟹   XP_047296429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,787,180 - 13,821,580 (+)NCBI
RefSeq Acc Id: XM_054323978   ⟹   XP_054179953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
RefSeq Acc Id: XM_054323979   ⟹   XP_054179954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,828,747 - 13,847,151 (+)NCBI
RefSeq Acc Id: XM_054323980   ⟹   XP_054179955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,828,747 - 13,852,635 (+)NCBI
RefSeq Acc Id: XM_054323981   ⟹   XP_054179956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,828,747 - 13,865,323 (+)NCBI
RefSeq Acc Id: XM_054323982   ⟹   XP_054179957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,830,085 - 13,865,323 (+)NCBI
RefSeq Acc Id: XM_054323983   ⟹   XP_054179958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,830,085 - 13,865,323 (+)NCBI
RefSeq Acc Id: XM_054323984   ⟹   XP_054179959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,830,915 - 13,865,323 (+)NCBI
RefSeq Acc Id: XR_008485298
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02013,828,747 - 13,860,701 (+)NCBI
RefSeq Acc Id: XR_937140
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,816,958 (+)NCBI
Sequence:
1 to 30 of 32 rows
Protein RefSeqs NP_001034464 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339332 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339335 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339336 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339337 (Get FASTA)   NCBI Sequence Viewer  
  NP_077025 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723687 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527644 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296425 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296426 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296427 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296428 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296429 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179953 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179954 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179955 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179956 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179957 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179958 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179959 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH05984 (Get FASTA)   NCBI Sequence Viewer  
  AAH73158 (Get FASTA)   NCBI Sequence Viewer  
  BAB15305 (Get FASTA)   NCBI Sequence Viewer  
  BAF82470 (Get FASTA)   NCBI Sequence Viewer  
  BAG52273 (Get FASTA)   NCBI Sequence Viewer  
  EAX10311 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000367346
  ENSP00000367346.5
  ENSP00000420497
  ENSP00000420497.1
1 to 30 of 32 rows
1 to 5 of 23 rows
1 to 5 of 23 rows
RefSeq Acc Id: NP_077025   ⟸   NM_024120
- Peptide Label: isoform 1
- UniProtKB: Q6GPH3 (UniProtKB/Swiss-Prot),   A8K166 (UniProtKB/Swiss-Prot),   Q9H6F4 (UniProtKB/Swiss-Prot),   Q5TEU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001034464   ⟸   NM_001039375
- Peptide Label: isoform 2
- UniProtKB: Q5TEU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006723687   ⟸   XM_006723624
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011527644   ⟸   XM_011529342
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001339336   ⟸   NM_001352407
- Peptide Label: isoform 5
- Sequence:
Methyltransferase type

Name Modeler Protein Id AA Range Protein Structure
AF-Q5TEU4-F1-model_v2 AlphaFold Q5TEU4 1-345 view protein structure

RGD ID:6798782
Promoter ID:HG_KWN:38630
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:ENST00000401775,   NM_001039375,   NM_016649,   OTTHUMT00000078057,   OTTHUMT00000078058,   OTTHUMT00000078060,   OTTHUMT00000078063,   OTTHUMT00000129749,   OTTHUMT00000129750,   UC002WOK.1,   UC002WOL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362013,713,531 - 13,714,112 (-)MPROMDB
RGD ID:13206395
Promoter ID:EPDNEW_H26778
Type:initiation region
Name:NDUFAF5_2
Description:NADH:ubiquinone oxidoreductase complex assembly factor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26779  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,784,928 - 13,784,988EPDNEW
RGD ID:13206399
Promoter ID:EPDNEW_H26779
Type:initiation region
Name:NDUFAF5_1
Description:NADH:ubiquinone oxidoreductase complex assembly factor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26778  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,049 - 13,785,109EPDNEW


1 to 31 of 31 rows
Database
Acc Id
Source(s)
COSMIC NDUFAF5 COSMIC
Ensembl Genes ENSG00000101247 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378081 ENTREZGENE
  ENST00000378106 ENTREZGENE
  ENST00000378106.10 UniProtKB/Swiss-Prot
  ENST00000463598 ENTREZGENE
  ENST00000463598.1 UniProtKB/Swiss-Prot
  ENST00000481249 ENTREZGENE
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot
GTEx ENSG00000101247 GTEx
HGNC ID HGNC:15899 ENTREZGENE
Human Proteome Map NDUFAF5 Human Proteome Map
InterPro Malonyl-ACP_OMT UniProtKB/Swiss-Prot
  Methyltransf_11 UniProtKB/Swiss-Prot
  SAM-dependent_MTases UniProtKB/Swiss-Prot
KEGG Report hsa:79133 UniProtKB/Swiss-Prot
NCBI Gene 79133 ENTREZGENE
OMIM 612360 OMIM
PANTHER ARGININE-HYDROXYLASE NDUFAF5, MITOCHONDRIAL UniProtKB/Swiss-Prot
  UNCHARACTERIZED UniProtKB/Swiss-Prot
Pfam Methyltransf_11 UniProtKB/Swiss-Prot
PharmGKB PA25780 PharmGKB
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot
UniProt A8K166 ENTREZGENE
  B3KR61 ENTREZGENE, UniProtKB/TrEMBL
  NDUF5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6GPH3 ENTREZGENE
  Q9H6F4 ENTREZGENE
UniProt Secondary A8K166 UniProtKB/Swiss-Prot
  Q6GPH3 UniProtKB/Swiss-Prot
  Q9H6F4 UniProtKB/Swiss-Prot
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Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 NDUFAF5  NADH:ubiquinone oxidoreductase complex assembly factor 5  NDUFAF5  NADH dehydrogenase (ubiquinone) complex I, assembly factor 5  Symbol and/or name change 5135510 APPROVED
2012-06-27 NDUFAF5  NADH dehydrogenase (ubiquinone) complex I, assembly factor 5  C20orf7  chromosome 20 open reading frame 7  Symbol and/or name change 5135510 APPROVED