NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7) - Rat Genome Database

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Gene: NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7) Homo sapiens
Analyze
Symbol: NDUFAF7
Name: NADH:ubiquinone oxidoreductase complex assembly factor 7
RGD ID: 1602217
HGNC Page HGNC:28816
Description: Enables enzyme binding activity and protein-arginine omega-N symmetric methyltransferase activity. Involved in mitochondrial respiratory chain complex I assembly and peptidyl-arginine methylation, to symmetrical-dimethyl arginine. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C2orf56; MidA; mitochondrial dysfunction protein A homolog; NADH dehydrogenase (ubiquinone) complex I, assembly factor 7; NADH dehydrogenase [ubiquinone] complex I, assembly factor 7; PRO1853; protein midA homolog, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC025881.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38237,231,658 - 37,271,365 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl237,231,631 - 37,253,403 (+)EnsemblGRCh38hg38GRCh38
GRCh37237,458,801 - 37,498,508 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36237,312,278 - 37,329,807 (+)NCBINCBI36Build 36hg18NCBI36
Celera237,299,729 - 37,317,266 (+)NCBICelera
Cytogenetic Map2p22.2NCBI
HuRef237,198,668 - 37,216,190 (+)NCBIHuRef
CHM1_1237,388,208 - 37,405,736 (+)NCBICHM1_1
T2T-CHM13v2.0237,238,699 - 37,278,374 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
RASopathy  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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:12477932   PMID:20360068   PMID:20406883   PMID:20877624   PMID:21832049   PMID:21873635   PMID:22664934   PMID:22857522   PMID:24089531   PMID:24292274   PMID:24510904   PMID:24838397  
PMID:26186194   PMID:28514442   PMID:28837730   PMID:29513927   PMID:29568061   PMID:31056398   PMID:31343991   PMID:31617661   PMID:32628020   PMID:32877691   PMID:33903120   PMID:33961781  
PMID:34079125   PMID:34800366   PMID:35256949   PMID:35337019   PMID:36215168  


Genomics

Comparative Map Data
NDUFAF7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38237,231,658 - 37,271,365 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl237,231,631 - 37,253,403 (+)EnsemblGRCh38hg38GRCh38
GRCh37237,458,801 - 37,498,508 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36237,312,278 - 37,329,807 (+)NCBINCBI36Build 36hg18NCBI36
Celera237,299,729 - 37,317,266 (+)NCBICelera
Cytogenetic Map2p22.2NCBI
HuRef237,198,668 - 37,216,190 (+)NCBIHuRef
CHM1_1237,388,208 - 37,405,736 (+)NCBICHM1_1
T2T-CHM13v2.0237,238,699 - 37,278,374 (+)NCBIT2T-CHM13v2.0
Ndufaf7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391779,244,535 - 79,255,481 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1779,244,565 - 79,255,481 (+)EnsemblGRCm39 Ensembl
GRCm381778,937,106 - 78,948,052 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1778,937,136 - 78,948,052 (+)EnsemblGRCm38mm10GRCm38
MGSCv371779,336,475 - 79,347,392 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361778,842,194 - 78,852,557 (+)NCBIMGSCv36mm8
Celera1783,257,705 - 83,268,733 (+)NCBICelera
Cytogenetic Map17E3NCBI
cM Map1749.67NCBI
Ndufaf7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8621,860,788 - 21,871,965 (-)NCBIGRCr8
mRatBN7.2616,108,630 - 16,119,810 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl616,103,003 - 16,119,810 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx616,424,109 - 16,435,241 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0616,746,318 - 16,757,451 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0616,226,742 - 16,237,876 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.061,534,594 - 1,545,831 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl61,534,594 - 1,545,828 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.061,524,703 - 1,536,483 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.461,715,952 - 1,727,127 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.161,715,951 - 1,727,124 (+)NCBI
Celera615,773,358 - 15,784,522 (-)NCBICelera
Cytogenetic Map6q12NCBI
Ndufaf7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554415,033,949 - 5,048,385 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554415,033,754 - 5,051,720 (+)NCBIChiLan1.0ChiLan1.0
NDUFAF7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21289,205,878 - 89,247,997 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A89,221,210 - 89,251,970 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A37,259,111 - 37,289,918 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A38,023,874 - 38,048,817 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A38,023,874 - 38,041,425 (+)Ensemblpanpan1.1panPan2
NDUFAF7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11729,584,804 - 29,705,801 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1729,584,845 - 29,606,016 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1729,399,170 - 29,421,767 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01730,235,128 - 30,257,751 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1730,231,356 - 30,350,227 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11729,461,237 - 29,517,033 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01729,526,030 - 29,548,622 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01729,743,812 - 29,766,422 (+)NCBIUU_Cfam_GSD_1.0
Ndufaf7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629242,383,928 - 42,396,770 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366631,049,593 - 1,062,145 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366631,049,493 - 1,062,236 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFAF7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3102,938,970 - 102,964,165 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13102,938,968 - 102,964,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23109,422,211 - 109,445,371 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFAF7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11470,144,823 - 70,161,084 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1470,144,903 - 70,161,377 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604541,786,844 - 41,802,919 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufaf7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473818,836,603 - 18,851,376 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473818,836,428 - 18,854,706 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFAF7
118 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000002.12:g.37231511C>G single nucleotide variant not provided [RCV001766317] Chr2:37231511 [GRCh38]
Chr2:37458654 [GRCh37]
Chr2:2p22.2		 likely benign
GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3 copy number gain See cases [RCV000050907] Chr2:36809304..38309455 [GRCh38]
Chr2:37036447..38536597 [GRCh37]
Chr2:36889951..38390101 [NCBI36]
Chr2:2p22.2-22.1		 uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21		 pathogenic
NM_144736.4(NDUFAF7):c.523C>T (p.Pro175Ser) single nucleotide variant Malignant melanoma [RCV000065585] Chr2:37241692 [GRCh38]
Chr2:37468835 [GRCh37]
Chr2:37322339 [NCBI36]
Chr2:2p22.2		 not provided
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21		 likely pathogenic
NM_144736.5(NDUFAF7):c.115C>G (p.Pro39Ala) single nucleotide variant not provided [RCV002055701]|not specified [RCV000127127] Chr2:37232165 [GRCh38]
Chr2:37459308 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.525G>A (p.Pro175=) single nucleotide variant not provided [RCV004708040]|not specified [RCV000127128] Chr2:37241694 [GRCh38]
Chr2:37468837 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.790C>A (p.Gln264Lys) single nucleotide variant not provided [RCV002055702]|not specified [RCV000127129] Chr2:37243971 [GRCh38]
Chr2:37471114 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.1111-5T>C single nucleotide variant not provided [RCV000907562]|not specified [RCV000127130] Chr2:37248130 [GRCh38]
Chr2:37475273 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.-36G>C single nucleotide variant not provided [RCV004708041]|not specified [RCV000127131] Chr2:37231670 [GRCh38]
Chr2:37458813 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His) single nucleotide variant not provided [RCV000845058]|not specified [RCV000127132] Chr2:37231755 [GRCh38]
Chr2:37458898 [GRCh37]
Chr2:2p22.2		 benign|not provided
NM_144736.5(NDUFAF7):c.408+16A>C single nucleotide variant not provided [RCV002514681]|not specified [RCV000127133] Chr2:37237883 [GRCh38]
Chr2:37465026 [GRCh37]
Chr2:2p22.2		 benign
GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1 copy number loss See cases [RCV000139443] Chr2:37000557..41954686 [GRCh38]
Chr2:37227700..42181826 [GRCh37]
Chr2:37081204..42035330 [NCBI36]
Chr2:2p22.2-21		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_144736.5(NDUFAF7):c.681+12_681+13del deletion not specified [RCV000200473] Chr2:37242701..37242702 [GRCh38]
Chr2:37469844..37469845 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.19T>A (p.Ser7Thr) single nucleotide variant not specified [RCV000196849] Chr2:37231724 [GRCh38]
Chr2:37458867 [GRCh37]
Chr2:2p22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144736.5(NDUFAF7):c.681+14A>T single nucleotide variant not specified [RCV000196851] Chr2:37242707 [GRCh38]
Chr2:37469850 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.815T>C (p.Val272Ala) single nucleotide variant not provided [RCV000197642] Chr2:37246074 [GRCh38]
Chr2:37473217 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.-37del deletion not specified [RCV000195656] Chr2:37231669 [GRCh38]
Chr2:37458812 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.4(NDUFAF7):c.1A>G (p.Met1Val) single nucleotide variant not specified [RCV000199380] Chr2:37231706 [GRCh38]
Chr2:37458849 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.813T>G (p.His271Gln) single nucleotide variant not provided [RCV000195813] Chr2:37246072 [GRCh38]
Chr2:37473215 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.717C>T (p.Asp239=) single nucleotide variant not provided [RCV002054330]|not specified [RCV000199427] Chr2:37243898 [GRCh38]
Chr2:37471041 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.23G>A (p.Gly8Asp) single nucleotide variant not provided [RCV000199542] Chr2:37231728 [GRCh38]
Chr2:37458871 [GRCh37]
Chr2:2p22.2		 benign|likely benign|uncertain significance
NM_144736.5(NDUFAF7):c.387C>A (p.Thr129=) single nucleotide variant not specified [RCV000606610] Chr2:37237846 [GRCh38]
Chr2:37464989 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.96_100del (p.Asn33fs) deletion not provided [RCV000598866] Chr2:37232145..37232149 [GRCh38]
Chr2:37459288..37459292 [GRCh37]
Chr2:2p22.2		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1		 pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21		 pathogenic
NM_144736.5(NDUFAF7):c.937-19T>G single nucleotide variant not provided [RCV002061444]|not specified [RCV000437958] Chr2:37247437 [GRCh38]
Chr2:37474580 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.678T>C (p.Phe226=) single nucleotide variant not provided [RCV001703470] Chr2:37242690 [GRCh38]
Chr2:37469833 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.1023A>C (p.Arg341=) single nucleotide variant not provided [RCV001721444] Chr2:37247542 [GRCh38]
Chr2:37474685 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.324A>G (p.Glu108=) single nucleotide variant not provided [RCV002522530]|not specified [RCV000432484] Chr2:37237783 [GRCh38]
Chr2:37464926 [GRCh37]
Chr2:2p22.2		 benign|likely benign
NM_144736.5(NDUFAF7):c.622+8C>G single nucleotide variant not specified [RCV000443437] Chr2:37241799 [GRCh38]
Chr2:37468942 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.216+4T>G single nucleotide variant not specified [RCV000443479] Chr2:37232270 [GRCh38]
Chr2:37459413 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.846C>T (p.Ile282=) single nucleotide variant not provided [RCV002062777]|not specified [RCV000440095] Chr2:37246105 [GRCh38]
Chr2:37473248 [GRCh37]
Chr2:2p22.2		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_144736.5(NDUFAF7):c.644A>G (p.His215Arg) single nucleotide variant not provided [RCV000485664] Chr2:37242656 [GRCh38]
Chr2:37469799 [GRCh37]
Chr2:2p22.2		 likely pathogenic
NM_144736.5(NDUFAF7):c.-36del deletion not specified [RCV000482452] Chr2:37231670 [GRCh38]
Chr2:37458813 [GRCh37]
Chr2:2p22.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005813.6(PRKD3):c.2021G>A (p.Arg674Gln) single nucleotide variant not specified [RCV004302343] Chr2:37260248 [GRCh38]
Chr2:37487391 [GRCh37]
Chr2:2p22.2		 uncertain significance
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21		 pathogenic
NM_144736.5(NDUFAF7):c.216+4T>C single nucleotide variant not specified [RCV000609950] Chr2:37232270 [GRCh38]
Chr2:37459413 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.298-16T>A single nucleotide variant not specified [RCV000610864] Chr2:37237741 [GRCh38]
Chr2:37464884 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.1290C>T (p.Ser430=) single nucleotide variant not provided [RCV002066687]|not specified [RCV000608957] Chr2:37248314 [GRCh38]
Chr2:37475457 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.682-12T>C single nucleotide variant not provided [RCV001722612] Chr2:37243851 [GRCh38]
Chr2:37470994 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.298-23_298-20del deletion not specified [RCV000604224] Chr2:37237733..37237736 [GRCh38]
Chr2:37464876..37464879 [GRCh37]
Chr2:2p22.2		 likely benign
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_144736.5(NDUFAF7):c.139C>T (p.Leu47Phe) single nucleotide variant not specified [RCV004320492] Chr2:37232189 [GRCh38]
Chr2:37459332 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.408+127T>C single nucleotide variant not provided [RCV000835700] Chr2:37237994 [GRCh38]
Chr2:37465137 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.408+299A>G single nucleotide variant not provided [RCV000842871] Chr2:37238166 [GRCh38]
Chr2:37465309 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.409-157G>T single nucleotide variant not provided [RCV000842872] Chr2:37241421 [GRCh38]
Chr2:37468564 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.936+247T>C single nucleotide variant not provided [RCV000842875] Chr2:37246442 [GRCh38]
Chr2:37473585 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.1111-164C>G single nucleotide variant not provided [RCV000844513] Chr2:37247971 [GRCh38]
Chr2:37475114 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.622+288G>A single nucleotide variant not provided [RCV000832486] Chr2:37242079 [GRCh38]
Chr2:37469222 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.936+317A>C single nucleotide variant not provided [RCV000842876] Chr2:37246512 [GRCh38]
Chr2:37473655 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.56-41C>T single nucleotide variant not provided [RCV000833016] Chr2:37232065 [GRCh38]
Chr2:37459208 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.799G>A (p.Glu267Lys) single nucleotide variant not provided [RCV000997115]|not specified [RCV004030217] Chr2:37246058 [GRCh38]
Chr2:37473201 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.409-273T>G single nucleotide variant not provided [RCV000830279] Chr2:37241305 [GRCh38]
Chr2:37468448 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.216+261G>T single nucleotide variant not provided [RCV000842870] Chr2:37232527 [GRCh38]
Chr2:37459670 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.-11C>T single nucleotide variant not provided [RCV000841541] Chr2:37231695 [GRCh38]
Chr2:37458838 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.408+153_408+156del microsatellite not provided [RCV001609367] Chr2:37238015..37238018 [GRCh38]
Chr2:37465158..37465161 [GRCh37]
Chr2:2p22.2		 benign
NC_000002.12:g.37231568G>A single nucleotide variant not provided [RCV001669832] Chr2:37231568 [GRCh38]
Chr2:37458711 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.937-213G>A single nucleotide variant not provided [RCV001708277] Chr2:37247243 [GRCh38]
Chr2:37474386 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.408+334G>T single nucleotide variant not provided [RCV001597571] Chr2:37238201 [GRCh38]
Chr2:37465344 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.298-13dup duplication not provided [RCV001716671] Chr2:37237734..37237735 [GRCh38]
Chr2:37464877..37464878 [GRCh37]
Chr2:2p22.2		 benign
NC_000002.12:g.37231525G>A single nucleotide variant not provided [RCV001713414] Chr2:37231525 [GRCh38]
Chr2:37458668 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.682-250C>T single nucleotide variant not provided [RCV001533902] Chr2:37243613 [GRCh38]
Chr2:37470756 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.56-66C>T single nucleotide variant not provided [RCV001670745] Chr2:37232040 [GRCh38]
Chr2:37459183 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.-37_-36delinsC indel not provided [RCV001645476] Chr2:37231669..37231670 [GRCh38]
Chr2:37458812..37458813 [GRCh37]
Chr2:2p22.2		 benign
GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3 copy number gain not provided [RCV001259149] Chr2:36432453..38182274 [GRCh37]
Chr2:2p22.3-22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1069C>T (p.His357Tyr) single nucleotide variant not provided [RCV001356529] Chr2:37247588 [GRCh38]
Chr2:37474731 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1268G>A (p.Arg423His) single nucleotide variant not provided [RCV001357024]|not specified [RCV004651618] Chr2:37248292 [GRCh38]
Chr2:37475435 [GRCh37]
Chr2:2p22.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_144736.5(NDUFAF7):c.682-340T>A single nucleotide variant not provided [RCV001715037] Chr2:37243523 [GRCh38]
Chr2:37470666 [GRCh37]
Chr2:2p22.2		 benign
NM_144736.5(NDUFAF7):c.937-258C>T single nucleotide variant not provided [RCV001769578] Chr2:37247198 [GRCh38]
Chr2:37474341 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.297+133G>A single nucleotide variant not provided [RCV001768187] Chr2:37236309 [GRCh38]
Chr2:37463452 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.217-163C>T single nucleotide variant not provided [RCV001774934] Chr2:37235933 [GRCh38]
Chr2:37463076 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.298-205A>G single nucleotide variant not provided [RCV001769952] Chr2:37237552 [GRCh38]
Chr2:37464695 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.409-273T>C single nucleotide variant not provided [RCV001753071] Chr2:37241305 [GRCh38]
Chr2:37468448 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.216+277A>G single nucleotide variant not provided [RCV001768150] Chr2:37232543 [GRCh38]
Chr2:37459686 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.298-22T>G single nucleotide variant not provided [RCV001769806] Chr2:37237735 [GRCh38]
Chr2:37464878 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.793-44T>G single nucleotide variant not provided [RCV001769716] Chr2:37246008 [GRCh38]
Chr2:37473151 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.408+45T>G single nucleotide variant not provided [RCV001776561] Chr2:37237912 [GRCh38]
Chr2:37465055 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.298-147A>G single nucleotide variant not provided [RCV001768118] Chr2:37237610 [GRCh38]
Chr2:37464753 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.682-183T>C single nucleotide variant not provided [RCV001753073] Chr2:37243680 [GRCh38]
Chr2:37470823 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.936+3A>G single nucleotide variant not provided [RCV001929836] Chr2:37246198 [GRCh38]
Chr2:37473341 [GRCh37]
Chr2:2p22.2		 uncertain significance
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) copy number loss not specified [RCV002053089] Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21		 pathogenic
NM_144736.5(NDUFAF7):c.195G>C (p.Glu65Asp) single nucleotide variant not provided [RCV002032029] Chr2:37232245 [GRCh38]
Chr2:37459388 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.298-10dup duplication not provided [RCV002196655] Chr2:37237744..37237745 [GRCh38]
Chr2:37464887..37464888 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.9A>G (p.Val3=) single nucleotide variant not provided [RCV002103209] Chr2:37231714 [GRCh38]
Chr2:37458857 [GRCh37]
Chr2:2p22.2		 benign
NC_000002.11:g.(?_37334416)_(39347563_?)dup duplication RASopathy [RCV003116408] Chr2:37334416..39347563 [GRCh37]
Chr2:2p22.2-22.1		 pathogenic
NM_005813.6(PRKD3):c.2646T>A (p.Asn882Lys) single nucleotide variant not provided [RCV003420629]|not specified [RCV004281661] Chr2:37253204 [GRCh38]
Chr2:37480347 [GRCh37]
Chr2:2p22.2		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_144736.5(NDUFAF7):c.134G>A (p.Arg45Gln) single nucleotide variant not specified [RCV004256396] Chr2:37232184 [GRCh38]
Chr2:37459327 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.418C>G (p.Gln140Glu) single nucleotide variant not provided [RCV002858521] Chr2:37241587 [GRCh38]
Chr2:37468730 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1087A>G (p.Met363Val) single nucleotide variant not specified [RCV004094727] Chr2:37247606 [GRCh38]
Chr2:37474749 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1273T>C (p.Ser425Pro) single nucleotide variant not provided [RCV002995086]|not specified [RCV004065209] Chr2:37248297 [GRCh38]
Chr2:37475440 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1149G>A (p.Gln383=) single nucleotide variant not provided [RCV002904381] Chr2:37248173 [GRCh38]
Chr2:37475316 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.875C>G (p.Thr292Ser) single nucleotide variant not specified [RCV004137784] Chr2:37246134 [GRCh38]
Chr2:37473277 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1111-12T>C single nucleotide variant not provided [RCV002695809] Chr2:37248123 [GRCh38]
Chr2:37475266 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.298-13T>C single nucleotide variant not provided [RCV002639602] Chr2:37237744 [GRCh38]
Chr2:37464887 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.1322A>G (p.Gln441Arg) single nucleotide variant not provided [RCV002619034] Chr2:37248346 [GRCh38]
Chr2:37475489 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.327G>A (p.Trp109Ter) single nucleotide variant not provided [RCV002590938] Chr2:37237786 [GRCh38]
Chr2:37464929 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005813.6(PRKD3):c.2542A>G (p.Ile848Val) single nucleotide variant not specified [RCV004143667] Chr2:37253308 [GRCh38]
Chr2:37480451 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1070A>G (p.His357Arg) single nucleotide variant not provided [RCV002619033] Chr2:37247589 [GRCh38]
Chr2:37474732 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.187A>G (p.Met63Val) single nucleotide variant not provided [RCV002959022] Chr2:37232237 [GRCh38]
Chr2:37459380 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val) single nucleotide variant Mitochondrial complex I deficiency [RCV002509003] Chr2:37248241 [GRCh38]
Chr2:37475384 [GRCh37]
Chr2:2p22.2		 not provided
NM_005813.6(PRKD3):c.2540G>A (p.Arg847His) single nucleotide variant not specified [RCV004143137] Chr2:37253310 [GRCh38]
Chr2:37480453 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.67A>G (p.Ile23Val) single nucleotide variant not provided [RCV002594123] Chr2:37232117 [GRCh38]
Chr2:37459260 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005813.6(PRKD3):c.2500G>C (p.Asp834His) single nucleotide variant not specified [RCV004166160] Chr2:37253350 [GRCh38]
Chr2:37480493 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.812A>T (p.His271Leu) single nucleotide variant not specified [RCV004117102] Chr2:37246071 [GRCh38]
Chr2:37473214 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.215A>C (p.Lys72Thr) single nucleotide variant not provided [RCV002871623] Chr2:37232265 [GRCh38]
Chr2:37459408 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005813.6(PRKD3):c.2245C>T (p.Arg749Trp) single nucleotide variant not specified [RCV004072175] Chr2:37256830 [GRCh38]
Chr2:37483973 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.793-17_793-4del deletion not provided [RCV002710259] Chr2:37246034..37246047 [GRCh38]
Chr2:37473177..37473190 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.409-17C>A single nucleotide variant not provided [RCV002596676] Chr2:37241561 [GRCh38]
Chr2:37468704 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.409-13T>A single nucleotide variant not provided [RCV002572370] Chr2:37241565 [GRCh38]
Chr2:37468708 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.937-13_937-10del deletion not provided [RCV002790623] Chr2:37247440..37247443 [GRCh38]
Chr2:37474583..37474586 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1019T>C (p.Leu340Ser) single nucleotide variant not provided [RCV002721167] Chr2:37247538 [GRCh38]
Chr2:37474681 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.142A>G (p.Met48Val) single nucleotide variant not specified [RCV004167577] Chr2:37232192 [GRCh38]
Chr2:37459335 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.798C>T (p.Asp266=) single nucleotide variant not provided [RCV002962882] Chr2:37246057 [GRCh38]
Chr2:37473200 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.1247G>T (p.Gly416Val) single nucleotide variant not provided [RCV002857489] Chr2:37248271 [GRCh38]
Chr2:37475414 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.468G>A (p.Glu156=) single nucleotide variant not provided [RCV002630987] Chr2:37241637 [GRCh38]
Chr2:37468780 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.945C>T (p.Cys315=) single nucleotide variant not provided [RCV002633457] Chr2:37247464 [GRCh38]
Chr2:37474607 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.1080A>T (p.Leu360Phe) single nucleotide variant not provided [RCV003067684]|not specified [RCV004071666] Chr2:37247599 [GRCh38]
Chr2:37474742 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1149G>T (p.Gln383His) single nucleotide variant not specified [RCV004267441] Chr2:37248173 [GRCh38]
Chr2:37475316 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.222T>C (p.Tyr74=) single nucleotide variant not provided [RCV003415549] Chr2:37236101 [GRCh38]
Chr2:37463244 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.1218C>T (p.Ala406=) single nucleotide variant not provided [RCV003827108] Chr2:37248242 [GRCh38]
Chr2:37475385 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.793-18C>G single nucleotide variant not provided [RCV003850432] Chr2:37246034 [GRCh38]
Chr2:37473177 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.956T>A (p.Leu319His) single nucleotide variant not provided [RCV003673253] Chr2:37247475 [GRCh38]
Chr2:37474618 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1222C>A (p.Leu408Ile) single nucleotide variant not provided [RCV003671271] Chr2:37248246 [GRCh38]
Chr2:37475389 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.345C>T (p.Ser115=) single nucleotide variant not provided [RCV003847385] Chr2:37237804 [GRCh38]
Chr2:37464947 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.368T>C (p.Leu123Pro) single nucleotide variant not provided [RCV003551466] Chr2:37237827 [GRCh38]
Chr2:37464970 [GRCh37]
Chr2:2p22.2		 uncertain significance
GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3 copy number gain not specified [RCV003986348] Chr2:36971076..38294436 [GRCh37]
Chr2:2p22.2		 uncertain significance
GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1 copy number loss not specified [RCV003986376] Chr2:30814984..42798684 [GRCh37]
Chr2:2p23.1-21		 pathogenic
NM_144736.5(NDUFAF7):c.77G>T (p.Gly26Val) single nucleotide variant not provided [RCV003719870] Chr2:37232127 [GRCh38]
Chr2:37459270 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.701G>A (p.Arg234Gln) single nucleotide variant not provided [RCV003705102] Chr2:37243882 [GRCh38]
Chr2:37471025 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1048T>C (p.Ser350Pro) single nucleotide variant not provided [RCV003844967] Chr2:37247567 [GRCh38]
Chr2:37474710 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1077T>C (p.Phe359=) single nucleotide variant not provided [RCV003708502] Chr2:37247596 [GRCh38]
Chr2:37474739 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.56C>T (p.Ala19Val) single nucleotide variant not provided [RCV003848314] Chr2:37232106 [GRCh38]
Chr2:37459249 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.793-5A>G single nucleotide variant not provided [RCV003728958] Chr2:37246047 [GRCh38]
Chr2:37473190 [GRCh37]
Chr2:2p22.2		 likely benign
NM_144736.5(NDUFAF7):c.862C>T (p.Arg288Cys) single nucleotide variant not provided [RCV003553598] Chr2:37246121 [GRCh38]
Chr2:37473264 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005813.6(PRKD3):c.2644A>C (p.Asn882His) single nucleotide variant not specified [RCV004515216] Chr2:37253206 [GRCh38]
Chr2:37480349 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005813.6(PRKD3):c.1895A>T (p.His632Leu) single nucleotide variant not specified [RCV004515214] Chr2:37260374 [GRCh38]
Chr2:37487517 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005813.6(PRKD3):c.2173C>T (p.Arg725Cys) single nucleotide variant not specified [RCV004515215] Chr2:37256902 [GRCh38]
Chr2:37484045 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.866T>C (p.Ile289Thr) single nucleotide variant not specified [RCV004477541] Chr2:37246125 [GRCh38]
Chr2:37473268 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.946G>A (p.Asp316Asn) single nucleotide variant not specified [RCV004477545] Chr2:37247465 [GRCh38]
Chr2:37474608 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.1201A>G (p.Arg401Gly) single nucleotide variant not specified [RCV004477562] Chr2:37248225 [GRCh38]
Chr2:37475368 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_144736.5(NDUFAF7):c.745A>G (p.Arg249Gly) single nucleotide variant not specified [RCV004654638] Chr2:37243926 [GRCh38]
Chr2:37471069 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005813.6(PRKD3):c.2617T>C (p.Tyr873His) single nucleotide variant not specified [RCV004648678] Chr2:37253233 [GRCh38]
Chr2:37480376 [GRCh37]
Chr2:2p22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1671
Count of miRNA genes:791
Interacting mature miRNAs:923
Transcripts:ENST00000002125, ENST00000336237, ENST00000416653, ENST00000419278, ENST00000431821, ENST00000432075, ENST00000439218, ENST00000441905, ENST00000455230, ENST00000469831, ENST00000474154, ENST00000474257, ENST00000483999
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406964592GWAS613568_Hchronic lymphocytic leukemia QTL GWAS613568 (human)0.000009leukocyte integrity trait (VT:0010898)23724012137240122Human

Markers in Region
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007077548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007077549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI334629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM172474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000002125   ⟹   ENSP00000002125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,658 - 37,249,160 (+)Ensembl
Ensembl Acc Id: ENST00000336237   ⟹   ENSP00000337431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,679 - 37,249,160 (+)Ensembl
Ensembl Acc Id: ENST00000416653   ⟹   ENSP00000410181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,767 - 37,241,628 (+)Ensembl
Ensembl Acc Id: ENST00000419278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,243,921 - 37,248,387 (+)Ensembl
Ensembl Acc Id: ENST00000431821   ⟹   ENSP00000399207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,689 - 37,246,186 (+)Ensembl
Ensembl Acc Id: ENST00000432075   ⟹   ENSP00000402959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,842 - 37,241,739 (+)Ensembl
Ensembl Acc Id: ENST00000439218   ⟹   ENSP00000394436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,820 - 37,246,188 (+)Ensembl
Ensembl Acc Id: ENST00000441905   ⟹   ENSP00000412942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,247,456 - 37,253,403 (+)Ensembl
Ensembl Acc Id: ENST00000455230   ⟹   ENSP00000416594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,631 - 37,247,576 (+)Ensembl
Ensembl Acc Id: ENST00000469831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,767 - 37,241,956 (+)Ensembl
Ensembl Acc Id: ENST00000474154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,663 - 37,249,160 (+)Ensembl
Ensembl Acc Id: ENST00000474257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,241,939 - 37,248,420 (+)Ensembl
Ensembl Acc Id: ENST00000483999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,231,776 - 37,246,195 (+)Ensembl
RefSeq Acc Id: NM_001083946   ⟹   NP_001077415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
GRCh37237,458,774 - 37,476,303 (+)RGD
Build 36237,312,278 - 37,329,807 (+)NCBI Archive
Celera237,299,729 - 37,317,266 (+)RGD
HuRef237,198,668 - 37,216,190 (+)RGD
CHM1_1237,388,208 - 37,405,736 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350024   ⟹   NP_001336953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350025   ⟹   NP_001336954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350027   ⟹   NP_001336956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144736   ⟹   NP_653337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
GRCh37237,458,774 - 37,476,303 (+)RGD
Build 36237,312,278 - 37,329,807 (+)NCBI Archive
Celera237,299,729 - 37,317,266 (+)RGD
HuRef237,198,668 - 37,216,190 (+)RGD
CHM1_1237,388,208 - 37,405,736 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146401
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146402
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,271,365 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,278,374 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146403
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146404
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146405
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,271,365 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,278,374 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146406
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,256,465 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,263,482 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146407
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146408
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,256,465 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,263,482 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146409
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,262,363 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,269,371 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146410
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,249,160 (+)NCBI
T2T-CHM13v2.0237,238,699 - 37,256,194 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264410   ⟹   XP_005264467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,833 - 37,249,160 (+)NCBI
GRCh37237,458,774 - 37,476,303 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452977   ⟹   XP_024308745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,833 - 37,249,160 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054342835   ⟹   XP_054198810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0237,238,874 - 37,256,194 (+)NCBI
RefSeq Acc Id: XM_054342836   ⟹   XP_054198811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0237,238,874 - 37,256,194 (+)NCBI
RefSeq Acc Id: XR_007077548
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,262,363 (+)NCBI
RefSeq Acc Id: XR_007077549
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,256,465 (+)NCBI
RefSeq Acc Id: XR_008486444
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0237,238,699 - 37,269,371 (+)NCBI
RefSeq Acc Id: XR_008486445
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0237,238,699 - 37,263,482 (+)NCBI
RefSeq Acc Id: NP_653337   ⟸   NM_144736
- Peptide Label: isoform 1
- UniProtKB: Q7Z399 (UniProtKB/Swiss-Prot),   Q9P1G3 (UniProtKB/Swiss-Prot),   Q7L592 (UniProtKB/Swiss-Prot),   B4DXV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001077415   ⟸   NM_001083946
- Peptide Label: isoform 3
- UniProtKB: B4DXV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264467   ⟸   XM_005264410
- Peptide Label: isoform X1
- UniProtKB: B4DXV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336953   ⟸   NM_001350024
- Peptide Label: isoform 4
- UniProtKB: B4DXV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336956   ⟸   NM_001350027
- Peptide Label: isoform 6
- UniProtKB: B4DQY3 (UniProtKB/TrEMBL),   B4DXV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336954   ⟸   NM_001350025
- Peptide Label: isoform 5
- UniProtKB: B4DXV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308745   ⟸   XM_024452977
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000394436   ⟸   ENST00000439218
Ensembl Acc Id: ENSP00000337431   ⟸   ENST00000336237
Ensembl Acc Id: ENSP00000416594   ⟸   ENST00000455230
Ensembl Acc Id: ENSP00000412942   ⟸   ENST00000441905
Ensembl Acc Id: ENSP00000410181   ⟸   ENST00000416653
Ensembl Acc Id: ENSP00000399207   ⟸   ENST00000431821
Ensembl Acc Id: ENSP00000402959   ⟸   ENST00000432075
Ensembl Acc Id: ENSP00000002125   ⟸   ENST00000002125
RefSeq Acc Id: XP_054198810   ⟸   XM_054342835
- Peptide Label: isoform X1
- UniProtKB: B4DXV9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198811   ⟸   XM_054342836
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L592-F1-model_v2 AlphaFold Q7L592 1-441 view protein structure

Promoters
RGD ID:6860104
Promoter ID:EPDNEW_H3217
Type:initiation region
Name:NDUFAF7_1
Description:NADH:ubiquinone oxidoreductase complex assembly factor 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,658 - 37,231,718EPDNEW
RGD ID:6796894
Promoter ID:HG_KWN:32221
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001083946,   NM_144736,   OTTHUMT00000325556,   OTTHUMT00000325559,   OTTHUMT00000325560,   OTTHUMT00000325561,   OTTHUMT00000325562,   OTTHUMT00000325563,   OTTHUMT00000325564,   OTTHUMT00000325566
Position:
Human AssemblyChrPosition (strand)Source
Build 36237,312,179 - 37,312,679 (+)MPROMDB
RGD ID:6796895
Promoter ID:HG_KWN:32223
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000325567
Position:
Human AssemblyChrPosition (strand)Source
Build 36237,325,726 - 37,326,226 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28816 AgrOrtholog
COSMIC NDUFAF7 COSMIC
Ensembl Genes ENSG00000003509 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000002125 ENTREZGENE
  ENST00000002125.9 UniProtKB/Swiss-Prot
  ENST00000336237 ENTREZGENE
  ENST00000336237.10 UniProtKB/Swiss-Prot
  ENST00000416653.5 UniProtKB/TrEMBL
  ENST00000431821.5 UniProtKB/TrEMBL
  ENST00000432075.1 UniProtKB/TrEMBL
  ENST00000439218.5 UniProtKB/TrEMBL
  ENST00000441905.1 UniProtKB/TrEMBL
  ENST00000455230.5 UniProtKB/TrEMBL
  ENST00000474154 ENTREZGENE
Gene3D-CATH 3.40.50.12710 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000003509 GTEx
HGNC ID HGNC:28816 ENTREZGENE
Human Proteome Map NDUFAF7 Human Proteome Map
InterPro NDUFAF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NDUFAF7_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55471 UniProtKB/Swiss-Prot
NCBI Gene 55471 ENTREZGENE
OMIM 615898 OMIM
PANTHER PROTEIN ARGININE METHYLTRANSFERASE NDUFAF7, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12049 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Methyltransf_28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162379266 PharmGKB
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DQY3 ENTREZGENE, UniProtKB/TrEMBL
  B4DXV9 ENTREZGENE, UniProtKB/TrEMBL
  B4E0W7_HUMAN UniProtKB/TrEMBL
  C9J236_HUMAN UniProtKB/TrEMBL
  C9JEL7_HUMAN UniProtKB/TrEMBL
  C9JP36_HUMAN UniProtKB/TrEMBL
  C9JS27_HUMAN UniProtKB/TrEMBL
  H7C3N5_HUMAN UniProtKB/TrEMBL
  NDUF7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7Z399 ENTREZGENE
  Q9P1G3 ENTREZGENE
UniProt Secondary Q7Z399 UniProtKB/Swiss-Prot
  Q9P1G3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 NDUFAF7  NADH:ubiquinone oxidoreductase complex assembly factor 7    NADH dehydrogenase (ubiquinone) complex I, assembly factor 7  Symbol and/or name change 5135510 APPROVED
2012-10-16 NDUFAF7  NADH dehydrogenase (ubiquinone) complex I, assembly factor 7  C2orf56  chromosome 2 open reading frame 56  Symbol and/or name change 5135510 APPROVED