FDXR (ferredoxin reductase) - Rat Genome Database

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Gene: FDXR (ferredoxin reductase) Homo sapiens
Analyze
Symbol: FDXR
Name: ferredoxin reductase
RGD ID: 734233
HGNC Page HGNC:3642
Description: Predicted to enable NADPH-adrenodoxin reductase activity. Predicted to be involved in NADPH oxidation and steroid biosynthetic process. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADR; adrenodoxin reductase; adrenodoxin-NADP(+) reductase; ADXR; ANOA; AR; ferredoxin--NADP(+) reductase; MMDS9B; NADPH:adrenodoxin oxidoreductase, mitochondrial
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
GRCh381774,862,497 - 74,872,994 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1774,862,497 - 74,873,031 (-)EnsemblGRCh38hg38GRCh38
GRCh371772,858,619 - 72,869,119 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,370,214 - 70,380,751 (-)NCBINCBI36Build 36hg18NCBI36
Build 341770,370,220 - 70,380,692NCBI
Celera1769,451,871 - 69,462,405 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBIHuRef
CHM1_11772,923,450 - 72,933,984 (-)NCBICHM1_1
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-colchicine  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
5-fluorouracil  (EXP)
8-Br-cAMP  (ISO)
acetamide  (ISO)
actinomycin D  (EXP)
adenine  (EXP)
aflatoxin B1  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
cadmium dichloride  (EXP)
camptothecin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorohydrocarbon  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
cyclosporin A  (EXP)
daunorubicin  (EXP)
DDE  (EXP)
dextran sulfate  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
glafenine  (ISO)
hydrogen peroxide  (EXP)
indometacin  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
lamivudine  (ISO)
lipopolysaccharide  (EXP)
menadione  (EXP)
methyl methanesulfonate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
Nutlin-3  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pifithrin-?  (EXP)
piroxicam  (EXP)
potassium dichromate  (EXP)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sotorasib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
theophylline  (EXP)
trametinib  (EXP)
trichloroethene  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Assessment of gene expression profiles in peripheral occlusive arterial disease. Bubenek S, etal., Can J Cardiol. 2012 Nov-Dec;28(6):712-20. doi: 10.1016/j.cjca.2012.03.013. Epub 2012 Jun 19.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
4. Androgen synthesis in adrenarche. Miller WL Rev Endocr Metab Disord. 2009 Mar;10(1):3-17.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1863359   PMID:1917982   PMID:2236061   PMID:2393675   PMID:2748461   PMID:2790061   PMID:2845396   PMID:2969697   PMID:8125298   PMID:11053423   PMID:11096094   PMID:12137805  
PMID:12370809   PMID:12477932   PMID:12782149   PMID:12787114   PMID:14702039   PMID:15489334   PMID:16344560   PMID:19004824   PMID:20877624   PMID:21873635   PMID:22101253   PMID:24321386  
PMID:25712867   PMID:26186194   PMID:26344197   PMID:26514267   PMID:26638075   PMID:27465491   PMID:28380382   PMID:28514442   PMID:28700943   PMID:28905435   PMID:28965846   PMID:29040572  
PMID:29955894   PMID:30250212   PMID:30559450   PMID:31091453   PMID:31536960   PMID:31586073   PMID:31932471   PMID:32304229   PMID:32457219   PMID:32628020   PMID:32994395   PMID:33022573  
PMID:33113898   PMID:33271253   PMID:33348459   PMID:33660365   PMID:33938912   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34800366   PMID:34979083   PMID:35256949   PMID:35337019  
PMID:35439318   PMID:35509820   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36424410   PMID:36480042   PMID:36736316   PMID:36849460   PMID:37046037   PMID:37107710   PMID:37223481  
PMID:37481223   PMID:37689310   PMID:38885337  


Genomics

Comparative Map Data
FDXR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381774,862,497 - 74,872,994 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1774,862,497 - 74,873,031 (-)EnsemblGRCh38hg38GRCh38
GRCh371772,858,619 - 72,869,119 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,370,214 - 70,380,751 (-)NCBINCBI36Build 36hg18NCBI36
Build 341770,370,220 - 70,380,692NCBI
Celera1769,451,871 - 69,462,405 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBIHuRef
CHM1_11772,923,450 - 72,933,984 (-)NCBICHM1_1
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBIT2T-CHM13v2.0
Fdxr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,158,850 - 115,167,925 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11115,158,850 - 115,167,876 (-)EnsemblGRCm39 Ensembl
GRCm3811115,268,024 - 115,277,101 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,268,024 - 115,277,050 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,129,339 - 115,138,283 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,084,115 - 115,093,059 (-)NCBIMGSCv36mm8
Celera11127,033,656 - 127,042,608 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.84NCBI
Fdxr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810101,006,845 - 101,015,582 (-)NCBIGRCr8
mRatBN7.210100,507,863 - 100,516,649 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10100,507,865 - 100,516,658 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10105,568,049 - 105,576,738 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010105,031,109 - 105,039,798 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010100,428,857 - 100,437,546 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010103,817,724 - 103,826,413 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10103,817,704 - 103,826,448 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010104,468,590 - 104,477,279 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410105,342,684 - 105,351,374 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110105,357,187 - 105,365,878 (-)NCBI
Celera1099,084,255 - 99,092,947 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Fdxr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555531,746,670 - 1,755,315 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555531,746,759 - 1,755,316 (-)NCBIChiLan1.0ChiLan1.0
FDXR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21990,899,791 - 90,910,451 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11795,722,695 - 95,733,347 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01768,808,123 - 68,818,642 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11774,364,343 - 74,374,852 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1774,364,343 - 74,374,852 (-)Ensemblpanpan1.1panPan2
FDXR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.195,567,411 - 5,577,427 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl95,567,328 - 5,577,277 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha96,246,975 - 6,256,975 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.096,239,485 - 6,249,477 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl96,239,458 - 6,249,473 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.196,276,453 - 6,286,449 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.096,387,040 - 6,397,024 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.096,447,362 - 6,457,354 (+)NCBIUU_Cfam_GSD_1.0
Fdxr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056026,188,212 - 6,196,794 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936594215,155 - 223,771 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936594215,165 - 223,715 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FDXR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,372,009 - 6,382,769 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,372,224 - 6,382,769 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2126,362,701 - 6,373,244 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap12pNCBI
FDXR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11646,785,669 - 46,796,154 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1646,785,591 - 46,796,187 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607717,571,055 - 17,581,546 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fdxr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248014,713,519 - 4,722,612 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248014,714,341 - 4,722,588 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FDXR
103 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
NM_024417.5(FDXR):c.151T>C (p.Phe51Leu) single nucleotide variant Inborn genetic diseases [RCV000622331] Chr17:74872062 [GRCh38]
Chr17:72868187 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1006G>C (p.Val336Leu) single nucleotide variant not provided [RCV002281253] Chr17:74864064 [GRCh38]
Chr17:72860186 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1003-6C>G single nucleotide variant not provided [RCV003159415] Chr17:74864073 [GRCh38]
Chr17:72860195 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1A>G (p.Met1Val) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV001823149]|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004595517]|not provided [RCV000579145] Chr17:74872944 [GRCh38]
Chr17:72869069 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_024417.5(FDXR):c.1255C>T (p.Gln419Ter) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV000509571] Chr17:74863166 [GRCh38]
Chr17:72859288 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.643C>G (p.Leu215Val) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV000509574] Chr17:74864898 [GRCh38]
Chr17:72861020 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV000509578]|Inborn genetic diseases [RCV002527390] Chr17:74864234 [GRCh38]
Chr17:72860356 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_024417.5(FDXR):c.1429G>A (p.Glu477Lys) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV000509579] Chr17:74862864 [GRCh38]
Chr17:72858986 [GRCh37]
Chr17:17q25.1		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV002051869]|FDXR-related disorder [RCV003965306]|Inborn genetic diseases [RCV000624705]|not provided [RCV001591396] Chr17:74866833 [GRCh38]
Chr17:72862955 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NM_024417.5(FDXR):c.1328C>A (p.Ala443Asp) single nucleotide variant not provided [RCV003318174] Chr17:74863093 [GRCh38]
Chr17:72859215 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV003988851]|Inborn genetic diseases [RCV000624205] Chr17:74863112 [GRCh38]
Chr17:72859234 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NM_024417.5(FDXR):c.325G>A (p.Gly109Ser) single nucleotide variant not provided [RCV000512854] Chr17:74866514 [GRCh38]
Chr17:72862636 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV002470935]|FDXR-related disorder [RCV003411472]|Inborn genetic diseases [RCV000623158]|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004595518] Chr17:74863914 [GRCh38]
Chr17:72860036 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic|uncertain significance
NM_024417.5(FDXR):c.1343G>A (p.Arg448Gln) single nucleotide variant not provided [RCV000513459] Chr17:74863078 [GRCh38]
Chr17:72859200 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:72834954-72859341)x3 copy number gain not provided [RCV000739668] Chr17:72834954..72859341 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:72838645-72860978)x3 copy number gain not provided [RCV000739669] Chr17:72838645..72860978 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.138_145del (p.Gly47fs) deletion not provided [RCV001532358] Chr17:74872068..74872075 [GRCh38]
Chr17:72868193..72868200 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.271-15C>T single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV001703139]|not provided [RCV001637543] Chr17:74866583 [GRCh38]
Chr17:72862705 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_024417.5(FDXR):c.980G>A (p.Arg327His) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV000990057]|Inborn genetic diseases [RCV003372932] Chr17:74864170 [GRCh38]
Chr17:72860292 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.610-92T>C single nucleotide variant not provided [RCV001668104] Chr17:74865023 [GRCh38]
Chr17:72861145 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.508-38C>T single nucleotide variant not provided [RCV001669089] Chr17:74865858 [GRCh38]
Chr17:72861980 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1092C>T (p.Ser364=) single nucleotide variant FDXR-related disorder [RCV003928429]|not provided [RCV000967464] Chr17:74863978 [GRCh38]
Chr17:72860100 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1002+8T>C single nucleotide variant FDXR-related disorder [RCV003928430]|not provided [RCV000967465] Chr17:74864140 [GRCh38]
Chr17:72860262 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1356A>G (p.Pro452=) single nucleotide variant FDXR-related disorder [RCV003916238]|not provided [RCV000967463] Chr17:74862937 [GRCh38]
Chr17:72859059 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1034C>T (p.Thr345Met) single nucleotide variant FDXR-related disorder [RCV003928485]|not provided [RCV000970325] Chr17:74864036 [GRCh38]
Chr17:72860158 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.178-32G>A single nucleotide variant not provided [RCV000948206] Chr17:74866908 [GRCh38]
Chr17:72863030 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.368A>G (p.Gln123Arg) single nucleotide variant not provided [RCV000948207] Chr17:74866471 [GRCh38]
Chr17:72862593 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.872C>T (p.Ala291Val) single nucleotide variant FDXR-related disorder [RCV003975776]|not provided [RCV000905483] Chr17:74864278 [GRCh38]
Chr17:72860400 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_024417.5(FDXR):c.1202G>A (p.Arg401Lys) single nucleotide variant not provided [RCV000996604] Chr17:74863219 [GRCh38]
Chr17:72859341 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266) copy number gain not provided [RCV000767767] Chr17:70720436..73175266 [GRCh37]
Chr17:17q24.3-25.1		 pathogenic
NM_024417.5(FDXR):c.610-4C>G single nucleotide variant FDXR-related disorder [RCV003916239]|not provided [RCV000967466] Chr17:74864935 [GRCh38]
Chr17:72861057 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.419C>T (p.Ala140Val) single nucleotide variant Inborn genetic diseases [RCV003269967] Chr17:74866219 [GRCh38]
Chr17:72862341 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1414A>G (p.Thr472Ala) single nucleotide variant FDXR-related disorder [RCV003916016]|not provided [RCV000960185] Chr17:74862879 [GRCh38]
Chr17:72859001 [GRCh37]
Chr17:17q25.1		 benign|likely benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_024417.5(FDXR):c.472G>A (p.Val158Met) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV000850553] Chr17:74866166 [GRCh38]
Chr17:72862288 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.619A>T (p.Ile207Phe) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV000850552] Chr17:74864922 [GRCh38]
Chr17:72861044 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.925C>T (p.Arg309Ter) single nucleotide variant Inborn genetic diseases [RCV002549279]|not provided [RCV001007986] Chr17:74864225 [GRCh38]
Chr17:72860347 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_024417.5(FDXR):c.1022G>A (p.Arg341His) single nucleotide variant not provided [RCV003318094] Chr17:74864048 [GRCh38]
Chr17:72860170 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.178-280= single nucleotide variant not provided [RCV001708882] Chr17:74867156 [GRCh38]
Chr17:72863278 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.508-32= single nucleotide variant not provided [RCV001598132] Chr17:74865852 [GRCh38]
Chr17:72861974 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.*139C>A single nucleotide variant not provided [RCV001643763] Chr17:74862678 [GRCh38]
Chr17:72858800 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.*230C>T single nucleotide variant not provided [RCV001540957] Chr17:74862587 [GRCh38]
Chr17:72858709 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1102G>A (p.Asp368Asn) single nucleotide variant not provided [RCV001532355] Chr17:74863968 [GRCh38]
Chr17:72860090 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.683G>T (p.Arg228Leu) single nucleotide variant not provided [RCV001532356] Chr17:74864858 [GRCh38]
Chr17:72860980 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.178-2050T>C single nucleotide variant not provided [RCV001674978] Chr17:74868926 [GRCh38]
Chr17:72865049 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.270+27G>C single nucleotide variant not provided [RCV001671963] Chr17:74866757 [GRCh38]
Chr17:72862879 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.750C>T (p.Ala250=) single nucleotide variant not provided [RCV001713984] Chr17:74864532 [GRCh38]
Chr17:72860654 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.609+12G>T single nucleotide variant not provided [RCV001595914] Chr17:74865707 [GRCh38]
Chr17:72861829 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.929del (p.Ser310fs) deletion MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004595557]|not provided [RCV001008842] Chr17:74864221 [GRCh38]
Chr17:72860343 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_024417.5(FDXR):c.270+97= variation not provided [RCV001540383] Chr17:74866687 [GRCh38]
Chr17:72862809 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.507+98= single nucleotide variant not provided [RCV001598165] Chr17:74866033 [GRCh38]
Chr17:72862155 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.178-2056= single nucleotide variant not provided [RCV001688497] Chr17:74868932 [GRCh38]
Chr17:72865055 [GRCh37]
Chr17:17q25.1		 benign
NC_000017.11:g.74873058T>C single nucleotide variant not provided [RCV001656471] Chr17:74873058 [GRCh38]
Chr17:72869183 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1346-9= single nucleotide variant not provided [RCV001673522] Chr17:74862956 [GRCh38]
Chr17:72859078 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.-37T>C single nucleotide variant not provided [RCV001621089] Chr17:74872981 [GRCh38]
Chr17:72869106 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1279G>T (p.Ala427Ser) single nucleotide variant FDXR-related disorder [RCV003928693]|not provided [RCV001092735] Chr17:74863142 [GRCh38]
Chr17:72859264 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024417.5(FDXR):c.178-1748C>T single nucleotide variant not provided [RCV001684919] Chr17:74868624 [GRCh38]
Chr17:72864747 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.751C>T (p.Arg251Trp) single nucleotide variant not provided [RCV001609501] Chr17:74864531 [GRCh38]
Chr17:72860653 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV003152758]|Inborn genetic diseases [RCV001267472]|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004595586]|Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome [RCV001263152] Chr17:74866175 [GRCh38]
Chr17:72862297 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_024417.5(FDXR):c.394-1G>C single nucleotide variant Inborn genetic diseases [RCV001267473] Chr17:74866245 [GRCh38]
Chr17:72862367 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.248C>T (p.Ala83Val) single nucleotide variant Inborn genetic diseases [RCV001265896]|not provided [RCV001532357] Chr17:74866806 [GRCh38]
Chr17:72862928 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024417.5(FDXR):c.605T>G (p.Leu202Arg) single nucleotide variant Inborn genetic diseases [RCV001265897] Chr17:74865723 [GRCh38]
Chr17:72861845 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.508-49= variation not provided [RCV001527993] Chr17:74865869 [GRCh38]
Chr17:72861991 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.1208C>T (p.Pro403Leu) single nucleotide variant not provided [RCV001587886] Chr17:74863213 [GRCh38]
Chr17:72859335 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.178-261A>G single nucleotide variant not provided [RCV001654564] Chr17:74867137 [GRCh38]
Chr17:72863259 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.507+1G>A single nucleotide variant not provided [RCV001988721] Chr17:74866130 [GRCh38]
Chr17:72862252 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.236G>A (p.Arg79His) single nucleotide variant not provided [RCV001843631] Chr17:74866818 [GRCh38]
Chr17:72862940 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.368del (p.Gln123fs) deletion Auditory neuropathy-optic atrophy syndrome [RCV001822885] Chr17:74866471 [GRCh38]
Chr17:72862591 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.926G>A (p.Arg309Gln) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV001823457] Chr17:74864224 [GRCh38]
Chr17:72860346 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.178-20G>A single nucleotide variant not provided [RCV001837142] Chr17:74866896 [GRCh38]
Chr17:72863018 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1454T>C (p.Met485Thr) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV002052096] Chr17:74862839 [GRCh38]
Chr17:72858961 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.685C>T (p.Arg229Cys) single nucleotide variant not provided [RCV001843630] Chr17:74864856 [GRCh38]
Chr17:72860978 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1252G>A (p.Gly418Ser) single nucleotide variant not specified [RCV002247833] Chr17:74863169 [GRCh38]
Chr17:72859291 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.682C>T (p.Arg228Trp) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV003147983] Chr17:74864859 [GRCh38]
Chr17:72860981 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV002273021]|Inborn genetic diseases [RCV004047481]|not provided [RCV002292693] Chr17:74862834 [GRCh38]
Chr17:72858956 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_024417.5(FDXR):c.475G>A (p.Gly159Ser) single nucleotide variant not provided [RCV002281262] Chr17:74866163 [GRCh38]
Chr17:72862285 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1194G>T (p.Trp398Cys) single nucleotide variant not provided [RCV002287961] Chr17:74863227 [GRCh38]
Chr17:72859349 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.578G>A (p.Arg193His) single nucleotide variant MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004595661]|not provided [RCV002292962] Chr17:74865750 [GRCh38]
Chr17:72861872 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
NM_024417.5(FDXR):c.623C>T (p.Thr208Met) single nucleotide variant Auditory neuropathy [RCV003483892]|Auditory neuropathy-optic atrophy syndrome [RCV002472139] Chr17:74864918 [GRCh38]
Chr17:72861040 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NM_024417.5(FDXR):c.1474T>C (p.Ter492Arg) single nucleotide variant not provided [RCV002469636] Chr17:74862819 [GRCh38]
Chr17:72858941 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.332T>C (p.Val111Ala) single nucleotide variant Auditory neuropathy-optic atrophy syndrome [RCV002468709]|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004595666] Chr17:74866507 [GRCh38]
Chr17:72862629 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del) deletion Auditory neuropathy-optic atrophy syndrome [RCV002468708]|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004595665] Chr17:74865753..74865764 [GRCh38]
Chr17:72861875..72861886 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.80-171C>G single nucleotide variant not provided [RCV002469619] Chr17:74872304 [GRCh38]
Chr17:72868429 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.4G>A (p.Ala2Thr) single nucleotide variant Inborn genetic diseases [RCV002992809] Chr17:74872941 [GRCh38]
Chr17:72869066 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.493C>T (p.Pro165Ser) single nucleotide variant Inborn genetic diseases [RCV002684182] Chr17:74866145 [GRCh38]
Chr17:72862267 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.275T>A (p.Val92Asp) single nucleotide variant FDXR-related disorder [RCV003427613]|Inborn genetic diseases [RCV002840394] Chr17:74866564 [GRCh38]
Chr17:72862686 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.559G>A (p.Val187Met) single nucleotide variant Inborn genetic diseases [RCV002682694] Chr17:74865769 [GRCh38]
Chr17:72861891 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1210A>G (p.Thr404Ala) single nucleotide variant Inborn genetic diseases [RCV002981736] Chr17:74863211 [GRCh38]
Chr17:72859333 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1094G>A (p.Arg365His) single nucleotide variant Inborn genetic diseases [RCV002998270] Chr17:74863976 [GRCh38]
Chr17:72860098 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.778_779dup (p.Leu260fs) duplication Inborn genetic diseases [RCV002798183] Chr17:74864502..74864503 [GRCh38]
Chr17:72860624..72860625 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.1043T>A (p.Met348Lys) single nucleotide variant Inborn genetic diseases [RCV002784733] Chr17:74864027 [GRCh38]
Chr17:72860149 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.434G>T (p.Gly145Val) single nucleotide variant Inborn genetic diseases [RCV002743185] Chr17:74866204 [GRCh38]
Chr17:72862326 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.743C>T (p.Pro248Leu) single nucleotide variant Inborn genetic diseases [RCV002665700] Chr17:74864539 [GRCh38]
Chr17:72860661 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.538G>A (p.Val180Met) single nucleotide variant Inborn genetic diseases [RCV002665387] Chr17:74865790 [GRCh38]
Chr17:72861912 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1367C>G (p.Ser456Ter) single nucleotide variant Inborn genetic diseases [RCV002697836] Chr17:74862926 [GRCh38]
Chr17:72859048 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.403G>A (p.Ala135Thr) single nucleotide variant Inborn genetic diseases [RCV002765220] Chr17:74866235 [GRCh38]
Chr17:72862357 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.820A>G (p.Lys274Glu) single nucleotide variant Inborn genetic diseases [RCV002769461] Chr17:74864330 [GRCh38]
Chr17:72860452 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.931C>A (p.Pro311Thr) single nucleotide variant Inborn genetic diseases [RCV002702998] Chr17:74864219 [GRCh38]
Chr17:72860341 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.730A>T (p.Met244Leu) single nucleotide variant Inborn genetic diseases [RCV002960369] Chr17:74864552 [GRCh38]
Chr17:72860674 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1027G>A (p.Val343Met) single nucleotide variant Inborn genetic diseases [RCV002677431] Chr17:74864043 [GRCh38]
Chr17:72860165 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.359C>T (p.Pro120Leu) single nucleotide variant Inborn genetic diseases [RCV002680110] Chr17:74866480 [GRCh38]
Chr17:72862602 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.430C>A (p.Pro144Thr) single nucleotide variant Inborn genetic diseases [RCV003202621] Chr17:74866208 [GRCh38]
Chr17:72862330 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.811C>T (p.Arg271Cys) single nucleotide variant Inborn genetic diseases [RCV003184403] Chr17:74864339 [GRCh38]
Chr17:72860461 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1 copy number loss not provided [RCV003222940] Chr17:72864876..73328878 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1150G>A (p.Glu384Lys) single nucleotide variant Inborn genetic diseases [RCV003188635]|not provided [RCV003427703] Chr17:74863920 [GRCh38]
Chr17:72860042 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_024417.5(FDXR):c.856G>C (p.Glu286Gln) single nucleotide variant Inborn genetic diseases [RCV003211540] Chr17:74864294 [GRCh38]
Chr17:72860416 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003325440] Chr17:72718277..74142256 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.74C>T (p.Thr25Ile) single nucleotide variant Inborn genetic diseases [RCV003369937] Chr17:74872871 [GRCh38]
Chr17:72868996 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.884G>T (p.Arg295Leu) single nucleotide variant Inborn genetic diseases [RCV003347664] Chr17:74864266 [GRCh38]
Chr17:72860388 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.205G>A (p.Glu69Lys) single nucleotide variant not provided [RCV003441380] Chr17:74866849 [GRCh38]
Chr17:72862971 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1093C>T (p.Arg365Cys) single nucleotide variant FDXR-related disorder [RCV003393102] Chr17:74863977 [GRCh38]
Chr17:72860099 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1114C>T (p.Pro372Ser) single nucleotide variant not provided [RCV003443876] Chr17:74863956 [GRCh38]
Chr17:72860078 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.831G>A (p.Thr277=) single nucleotide variant not provided [RCV003421477] Chr17:74864319 [GRCh38]
Chr17:72860441 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.178-88T>C single nucleotide variant not provided [RCV003421479] Chr17:74866964 [GRCh38]
Chr17:72863086 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.261C>T (p.Pro87=) single nucleotide variant not provided [RCV003421478] Chr17:74866793 [GRCh38]
Chr17:72862915 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.381C>T (p.His127=) single nucleotide variant not provided [RCV003429147] Chr17:74866458 [GRCh38]
Chr17:72862580 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.724C>T (p.Arg242Trp) single nucleotide variant FDXR-related disorder [RCV003399843] Chr17:74864558 [GRCh38]
Chr17:72860680 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.570C>T (p.Asp190=) single nucleotide variant not provided [RCV003413333] Chr17:74865758 [GRCh38]
Chr17:72861880 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.3G>A (p.Met1Ile) single nucleotide variant FDXR-related disorder [RCV003956651] Chr17:74872942 [GRCh38]
Chr17:72869067 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_024417.5(FDXR):c.1107A>T (p.Pro369=) single nucleotide variant FDXR-related disorder [RCV003923890] Chr17:74863963 [GRCh38]
Chr17:72860085 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.178-56G>A single nucleotide variant FDXR-related disorder [RCV003924114] Chr17:74866932 [GRCh38]
Chr17:72863054 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.1284G>A (p.Gly428=) single nucleotide variant FDXR-related disorder [RCV003931554] Chr17:74863137 [GRCh38]
Chr17:72859259 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.845G>A (p.Arg282Gln) single nucleotide variant FDXR-related disorder [RCV003931599] Chr17:74864305 [GRCh38]
Chr17:72860427 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.348C>T (p.Asp116=) single nucleotide variant FDXR-related disorder [RCV003907112] Chr17:74866491 [GRCh38]
Chr17:72862613 [GRCh37]
Chr17:17q25.1		 benign
NM_024417.5(FDXR):c.894G>A (p.Ser298=) single nucleotide variant FDXR-related disorder [RCV003937276] Chr17:74864256 [GRCh38]
Chr17:72860378 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.80-67C>T single nucleotide variant FDXR-related disorder [RCV003927065] Chr17:74872200 [GRCh38]
Chr17:72868325 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.271-10G>T single nucleotide variant FDXR-related disorder [RCV003904517] Chr17:74866578 [GRCh38]
Chr17:72862700 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.1083G>A (p.Gly361=) single nucleotide variant FDXR-related disorder [RCV003904289] Chr17:74863987 [GRCh38]
Chr17:72860109 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.610-12C>A single nucleotide variant FDXR-related disorder [RCV003934618] Chr17:74864943 [GRCh38]
Chr17:72861065 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.669G>C (p.Val223=) single nucleotide variant FDXR-related disorder [RCV003947390] Chr17:74864872 [GRCh38]
Chr17:72860994 [GRCh37]
Chr17:17q25.1		 likely benign
NM_024417.5(FDXR):c.24G>T (p.Trp8Cys) single nucleotide variant Inborn genetic diseases [RCV004391703] Chr17:74872921 [GRCh38]
Chr17:72869046 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.412C>T (p.His138Tyr) single nucleotide variant Inborn genetic diseases [RCV004391705] Chr17:74866226 [GRCh38]
Chr17:72862348 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.574G>T (p.Ala192Ser) single nucleotide variant Inborn genetic diseases [RCV004391706] Chr17:74865754 [GRCh38]
Chr17:72861876 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.683G>C (p.Arg228Pro) single nucleotide variant Inborn genetic diseases [RCV004391707] Chr17:74864858 [GRCh38]
Chr17:72860980 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.749C>T (p.Ala250Val) single nucleotide variant Inborn genetic diseases [RCV004391709] Chr17:74864533 [GRCh38]
Chr17:72860655 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.178-86C>T single nucleotide variant MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004588573] Chr17:74866962 [GRCh38]
Chr17:72863084 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.296C>T (p.Thr99Met) single nucleotide variant Inborn genetic diseases [RCV004391704] Chr17:74866543 [GRCh38]
Chr17:72862665 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.752G>A (p.Arg251Gln) single nucleotide variant Inborn genetic diseases [RCV004391710] Chr17:74864530 [GRCh38]
Chr17:72860652 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.725G>A (p.Arg242Gln) single nucleotide variant Inborn genetic diseases [RCV004391708] Chr17:74864557 [GRCh38]
Chr17:72860679 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.766C>T (p.Pro256Ser) single nucleotide variant Inborn genetic diseases [RCV004391711] Chr17:74864516 [GRCh38]
Chr17:72860638 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.353C>T (p.Thr118Met) single nucleotide variant Inborn genetic diseases [RCV004609291] Chr17:74866486 [GRCh38]
Chr17:72862608 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1348G>A (p.Val450Ile) single nucleotide variant Inborn genetic diseases [RCV004618598] Chr17:74862945 [GRCh38]
Chr17:72859067 [GRCh37]
Chr17:17q25.1		 uncertain significance
c.1002+1G-A single nucleotide variant MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B [RCV004588580] Chr17:74864234 [GRCh38]
Chr17:17q25.1		 pathogenic
NM_024417.5(FDXR):c.830C>T (p.Thr277Met) single nucleotide variant Inborn genetic diseases [RCV004618595] Chr17:74864320 [GRCh38]
Chr17:72860442 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.1066G>C (p.Val356Leu) single nucleotide variant Inborn genetic diseases [RCV004618597] Chr17:74864004 [GRCh38]
Chr17:72860126 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024417.5(FDXR):c.314G>C (p.Cys105Ser) single nucleotide variant Inborn genetic diseases [RCV004618596] Chr17:74866525 [GRCh38]
Chr17:72862647 [GRCh37]
Chr17:17q25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8566
Count of miRNA genes:1021
Interacting mature miRNAs:1265
Transcripts:ENST00000293195, ENST00000413947, ENST00000420580, ENST00000442102, ENST00000455107, ENST00000544854, ENST00000577509, ENST00000577932, ENST00000578473, ENST00000579482, ENST00000579543, ENST00000579893, ENST00000580492, ENST00000581219, ENST00000581530, ENST00000581969, ENST00000582710, ENST00000582944, ENST00000583881, ENST00000583917
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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
407406616GWAS1055592_Hurate measurement, bone density QTL GWAS1055592 (human)6e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)177486346674863467Human

Markers in Region
RH78900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371772,858,712 - 72,858,860UniSTSGRCh37
Build 361770,370,307 - 70,370,455RGDNCBI36
Celera1769,451,964 - 69,452,112RGD
Cytogenetic Map17q24-q25UniSTS
HuRef1768,269,240 - 68,269,388UniSTS
GeneMap99-GB4 RH Map17471.85UniSTS
NCBI RH Map17757.3UniSTS
GDB:178571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371772,858,732 - 72,858,914UniSTSGRCh37
Build 361770,370,327 - 70,370,509RGDNCBI36
Celera1769,451,984 - 69,452,166RGD
Cytogenetic Map17q24-q25UniSTS
HuRef1768,269,260 - 68,269,442UniSTS
FDXR__5184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371772,858,624 - 72,859,052UniSTSGRCh37
Build 361770,370,219 - 70,370,647RGDNCBI36
Celera1769,451,876 - 69,452,304RGD
HuRef1768,269,152 - 68,269,580UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001258012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW590330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA267443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ085780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000293195   ⟹   ENSP00000293195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,497 - 74,872,994 (-)Ensembl
Ensembl Acc Id: ENST00000413947   ⟹   ENSP00000408595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,609 - 74,872,976 (-)Ensembl
Ensembl Acc Id: ENST00000420580   ⟹   ENSP00000414172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,498 - 74,872,974 (-)Ensembl
Ensembl Acc Id: ENST00000442102   ⟹   ENSP00000416515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,542 - 74,873,031 (-)Ensembl
Ensembl Acc Id: ENST00000544854   ⟹   ENSP00000445432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,498 - 74,868,753 (-)Ensembl
Ensembl Acc Id: ENST00000577509   ⟹   ENSP00000462083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,505 - 74,872,968 (-)Ensembl
Ensembl Acc Id: ENST00000577932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,866,512 - 74,872,974 (-)Ensembl
Ensembl Acc Id: ENST00000578473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,499 - 74,873,006 (-)Ensembl
Ensembl Acc Id: ENST00000579482   ⟹   ENSP00000461993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,501 - 74,872,976 (-)Ensembl
Ensembl Acc Id: ENST00000579543   ⟹   ENSP00000462488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,866,181 - 74,872,974 (-)Ensembl
Ensembl Acc Id: ENST00000579893   ⟹   ENSP00000463308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,864,896 - 74,868,631 (-)Ensembl
Ensembl Acc Id: ENST00000580492   ⟹   ENSP00000462330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,866,131 - 74,872,968 (-)Ensembl
Ensembl Acc Id: ENST00000581219   ⟹   ENSP00000463934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,866,209 - 74,872,977 (-)Ensembl
Ensembl Acc Id: ENST00000581530   ⟹   ENSP00000462972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,501 - 74,872,961 (-)Ensembl
Ensembl Acc Id: ENST00000581969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,866,137 - 74,868,473 (-)Ensembl
Ensembl Acc Id: ENST00000582710   ⟹   ENSP00000462884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,864,276 - 74,872,942 (-)Ensembl
Ensembl Acc Id: ENST00000582944   ⟹   ENSP00000462183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,544 - 74,872,985 (-)Ensembl
Ensembl Acc Id: ENST00000583881   ⟹   ENSP00000464670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,497 - 74,873,013 (-)Ensembl
Ensembl Acc Id: ENST00000583917   ⟹   ENSP00000463940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,862,518 - 74,873,015 (-)Ensembl
Ensembl Acc Id: ENST00000610946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,872,378 - 74,872,974 (-)Ensembl
RefSeq Acc Id: NM_001258012   ⟹   NP_001244941
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,872,994 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBI
CHM1_11772,923,450 - 72,933,984 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258013   ⟹   NP_001244942
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,872,994 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBI
CHM1_11772,923,450 - 72,933,984 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258014   ⟹   NP_001244943
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,872,994 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBI
CHM1_11772,923,450 - 72,933,984 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258015   ⟹   NP_001244944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,872,994 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBI
CHM1_11772,923,450 - 72,933,984 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258016   ⟹   NP_001244945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,868,753 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBI
CHM1_11772,923,450 - 72,929,707 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,760,539 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004110   ⟹   NP_004101
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,872,994 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)ENTREZGENE
Build 361770,370,214 - 70,380,751 (-)NCBI Archive
HuRef1768,269,147 - 68,279,670 (-)ENTREZGENE
CHM1_11772,923,450 - 72,933,984 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024417   ⟹   NP_077728
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,872,994 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)ENTREZGENE
Build 361770,370,214 - 70,380,751 (-)NCBI Archive
HuRef1768,269,147 - 68,279,670 (-)ENTREZGENE
CHM1_11772,923,450 - 72,933,984 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047576
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,862,497 - 74,872,994 (-)NCBI
GRCh371772,858,619 - 72,869,156 (-)NCBI
HuRef1768,269,147 - 68,279,670 (-)NCBI
CHM1_11772,923,450 - 72,933,984 (-)NCBI
T2T-CHM13v2.01775,754,283 - 75,764,782 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001244941 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244942 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244943 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244944 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244945 (Get FASTA)   NCBI Sequence Viewer  
  NP_004101 (Get FASTA)   NCBI Sequence Viewer  
  NP_077728 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51668 (Get FASTA)   NCBI Sequence Viewer  
  AAA51669 (Get FASTA)   NCBI Sequence Viewer  
  AAB59497 (Get FASTA)   NCBI Sequence Viewer  
  AAB59498 (Get FASTA)   NCBI Sequence Viewer  
  AAH02960 (Get FASTA)   NCBI Sequence Viewer  
  AAH63493 (Get FASTA)   NCBI Sequence Viewer  
  AAP35330 (Get FASTA)   NCBI Sequence Viewer  
  AAY68215 (Get FASTA)   NCBI Sequence Viewer  
  ADO22301 (Get FASTA)   NCBI Sequence Viewer  
  BAD97250 (Get FASTA)   NCBI Sequence Viewer  
  BAG52818 (Get FASTA)   NCBI Sequence Viewer  
  BAG56748 (Get FASTA)   NCBI Sequence Viewer  
  BAG56750 (Get FASTA)   NCBI Sequence Viewer  
  BAG58287 (Get FASTA)   NCBI Sequence Viewer  
  BAG61016 (Get FASTA)   NCBI Sequence Viewer  
  BAG63236 (Get FASTA)   NCBI Sequence Viewer  
  BAH13598 (Get FASTA)   NCBI Sequence Viewer  
  EAW89205 (Get FASTA)   NCBI Sequence Viewer  
  EAW89206 (Get FASTA)   NCBI Sequence Viewer  
  EAW89207 (Get FASTA)   NCBI Sequence Viewer  
  EAW89208 (Get FASTA)   NCBI Sequence Viewer  
  EAW89209 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000293195
  ENSP00000293195.5
  ENSP00000408595
  ENSP00000408595.2
  ENSP00000414172
  ENSP00000414172.2
  ENSP00000416515
  ENSP00000416515.2
  ENSP00000445432
  ENSP00000445432.1
  ENSP00000461993.1
  ENSP00000462083.1
  ENSP00000462183
  ENSP00000462183.1
  ENSP00000462330.1
  ENSP00000462488.1
  ENSP00000462884.1
  ENSP00000462972
  ENSP00000462972.1
  ENSP00000463308.1
  ENSP00000463934.1
  ENSP00000463940.1
  ENSP00000464670.1
GenBank Protein P22570 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_077728   ⟸   NM_024417
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BU12 (UniProtKB/Swiss-Prot),   Q4PJI0 (UniProtKB/Swiss-Prot),   Q13716 (UniProtKB/Swiss-Prot),   E7EQC1 (UniProtKB/Swiss-Prot),   B7Z7G2 (UniProtKB/Swiss-Prot),   B4DX24 (UniProtKB/Swiss-Prot),   B4DQQ4 (UniProtKB/Swiss-Prot),   B4DHX5 (UniProtKB/Swiss-Prot),   B4DDI7 (UniProtKB/Swiss-Prot),   P22570 (UniProtKB/Swiss-Prot),   A0A0C4DFN8 (UniProtKB/TrEMBL),   Q6GSK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004101   ⟸   NM_004110
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BU12 (UniProtKB/Swiss-Prot),   Q4PJI0 (UniProtKB/Swiss-Prot),   Q13716 (UniProtKB/Swiss-Prot),   E7EQC1 (UniProtKB/Swiss-Prot),   B7Z7G2 (UniProtKB/Swiss-Prot),   B4DX24 (UniProtKB/Swiss-Prot),   B4DQQ4 (UniProtKB/Swiss-Prot),   B4DHX5 (UniProtKB/Swiss-Prot),   B4DDI7 (UniProtKB/Swiss-Prot),   P22570 (UniProtKB/Swiss-Prot),   A0A0C4DGN7 (UniProtKB/TrEMBL),   Q6GSK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244943   ⟸   NM_001258014
- Peptide Label: isoform 5 precursor
- UniProtKB: Q9BU12 (UniProtKB/Swiss-Prot),   Q4PJI0 (UniProtKB/Swiss-Prot),   Q13716 (UniProtKB/Swiss-Prot),   E7EQC1 (UniProtKB/Swiss-Prot),   B7Z7G2 (UniProtKB/Swiss-Prot),   B4DX24 (UniProtKB/Swiss-Prot),   B4DQQ4 (UniProtKB/Swiss-Prot),   B4DHX5 (UniProtKB/Swiss-Prot),   B4DDI7 (UniProtKB/Swiss-Prot),   P22570 (UniProtKB/Swiss-Prot),   A0A0A0MTR6 (UniProtKB/TrEMBL),   Q6GSK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244944   ⟸   NM_001258015
- Peptide Label: isoform 6 precursor
- UniProtKB: Q9BU12 (UniProtKB/Swiss-Prot),   Q4PJI0 (UniProtKB/Swiss-Prot),   Q13716 (UniProtKB/Swiss-Prot),   E7EQC1 (UniProtKB/Swiss-Prot),   B7Z7G2 (UniProtKB/Swiss-Prot),   B4DX24 (UniProtKB/Swiss-Prot),   B4DQQ4 (UniProtKB/Swiss-Prot),   B4DHX5 (UniProtKB/Swiss-Prot),   B4DDI7 (UniProtKB/Swiss-Prot),   P22570 (UniProtKB/Swiss-Prot),   Q6GSK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244941   ⟸   NM_001258012
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9BU12 (UniProtKB/Swiss-Prot),   Q4PJI0 (UniProtKB/Swiss-Prot),   Q13716 (UniProtKB/Swiss-Prot),   E7EQC1 (UniProtKB/Swiss-Prot),   B7Z7G2 (UniProtKB/Swiss-Prot),   B4DX24 (UniProtKB/Swiss-Prot),   B4DQQ4 (UniProtKB/Swiss-Prot),   B4DHX5 (UniProtKB/Swiss-Prot),   B4DDI7 (UniProtKB/Swiss-Prot),   P22570 (UniProtKB/Swiss-Prot),   A0A0A0MT64 (UniProtKB/TrEMBL),   Q6GSK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244942   ⟸   NM_001258013
- Peptide Label: isoform 4
- UniProtKB: Q9BU12 (UniProtKB/Swiss-Prot),   Q4PJI0 (UniProtKB/Swiss-Prot),   Q13716 (UniProtKB/Swiss-Prot),   E7EQC1 (UniProtKB/Swiss-Prot),   B7Z7G2 (UniProtKB/Swiss-Prot),   B4DX24 (UniProtKB/Swiss-Prot),   B4DQQ4 (UniProtKB/Swiss-Prot),   B4DHX5 (UniProtKB/Swiss-Prot),   B4DDI7 (UniProtKB/Swiss-Prot),   P22570 (UniProtKB/Swiss-Prot),   A0A0A0MSZ4 (UniProtKB/TrEMBL),   Q6GSK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244945   ⟸   NM_001258016
- Peptide Label: isoform 7
- UniProtKB: A0A0A0MTN9 (UniProtKB/TrEMBL),   B4DDI9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000462330   ⟸   ENST00000580492
Ensembl Acc Id: ENSP00000463934   ⟸   ENST00000581219
Ensembl Acc Id: ENSP00000462972   ⟸   ENST00000581530
Ensembl Acc Id: ENSP00000293195   ⟸   ENST00000293195
Ensembl Acc Id: ENSP00000462884   ⟸   ENST00000582710
Ensembl Acc Id: ENSP00000462183   ⟸   ENST00000582944
Ensembl Acc Id: ENSP00000463940   ⟸   ENST00000583917
Ensembl Acc Id: ENSP00000464670   ⟸   ENST00000583881
Ensembl Acc Id: ENSP00000445432   ⟸   ENST00000544854
Ensembl Acc Id: ENSP00000408595   ⟸   ENST00000413947
Ensembl Acc Id: ENSP00000416515   ⟸   ENST00000442102
Ensembl Acc Id: ENSP00000462083   ⟸   ENST00000577509
Ensembl Acc Id: ENSP00000463308   ⟸   ENST00000579893
Ensembl Acc Id: ENSP00000462488   ⟸   ENST00000579543
Ensembl Acc Id: ENSP00000461993   ⟸   ENST00000579482
Ensembl Acc Id: ENSP00000414172   ⟸   ENST00000420580
Protein Domains
FAD/NAD(P)-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22570-F1-model_v2 AlphaFold P22570 1-491 view protein structure

Promoters
RGD ID:6811171
Promoter ID:HG_ACW:36276
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:FDXR.QAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361770,375,996 - 70,376,496 (-)MPROMDB
RGD ID:6794142
Promoter ID:HG_KWN:27064
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004110,   NM_024417,   UC002JLW.1,   UC002JLZ.1,   UC002JMA.1,   UC002JMB.1,   UC002JMC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361770,380,591 - 70,381,727 (-)MPROMDB
RGD ID:7236237
Promoter ID:EPDNEW_H23864
Type:initiation region
Name:FDXR_1
Description:ferredoxin reductase
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
GRCh381774,872,974 - 74,873,034EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3642 AgrOrtholog
COSMIC FDXR COSMIC
Ensembl Genes ENSG00000161513 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000293195 ENTREZGENE
  ENST00000293195.10 UniProtKB/TrEMBL
  ENST00000413947 ENTREZGENE
  ENST00000413947.6 UniProtKB/TrEMBL
  ENST00000420580 ENTREZGENE
  ENST00000420580.6 UniProtKB/Swiss-Prot
  ENST00000442102 ENTREZGENE
  ENST00000442102.6 UniProtKB/TrEMBL
  ENST00000544854 ENTREZGENE
  ENST00000544854.5 UniProtKB/TrEMBL
  ENST00000577509 ENTREZGENE
  ENST00000577509.5 UniProtKB/TrEMBL
  ENST00000579482.5 UniProtKB/TrEMBL
  ENST00000579543.1 UniProtKB/TrEMBL
  ENST00000579893.1 UniProtKB/TrEMBL
  ENST00000580492.5 UniProtKB/TrEMBL
  ENST00000581219.1 UniProtKB/TrEMBL
  ENST00000581530 ENTREZGENE
  ENST00000581530.5 UniProtKB/TrEMBL
  ENST00000582710.5 UniProtKB/TrEMBL
  ENST00000582944 ENTREZGENE
  ENST00000582944.5 UniProtKB/TrEMBL
  ENST00000583881.5 UniProtKB/TrEMBL
  ENST00000583917.5 UniProtKB/TrEMBL
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000161513 GTEx
HGNC ID HGNC:3642 ENTREZGENE
Human Proteome Map FDXR Human Proteome Map
InterPro ET-N_metabolism_enzyme UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferredox_Rdtase_adrenod UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2232 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2232 ENTREZGENE
OMIM 103270 OMIM
PANTHER FAD NADPH DEHYDROGENASE/OXIDOREDUCTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADPH:ADRENODOXIN OXIDOREDUCTASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NAD_binding_8 UniProtKB/TrEMBL
  Pyr_redox_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28086 PharmGKB
PIRSF FNR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ADXRDTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FADPNR UniProtKB/TrEMBL
Superfamily-SCOP Nucleotide-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MSZ4 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MT64 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MTN9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MTR6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0C4DFN8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0C4DGN7 ENTREZGENE, UniProtKB/TrEMBL
  ADRO_HUMAN UniProtKB/Swiss-Prot
  B4DDI7 ENTREZGENE
  B4DDI9 ENTREZGENE, UniProtKB/TrEMBL
  B4DHX5 ENTREZGENE
  B4DQQ4 ENTREZGENE
  B4DX24 ENTREZGENE
  B7Z7G2 ENTREZGENE
  E7EQC1 ENTREZGENE
  J3KRG8_HUMAN UniProtKB/TrEMBL
  J3KS64_HUMAN UniProtKB/TrEMBL
  J3KTA3_HUMAN UniProtKB/TrEMBL
  J3QKZ8_HUMAN UniProtKB/TrEMBL
  J3QQW7_HUMAN UniProtKB/TrEMBL
  J3QQX3_HUMAN UniProtKB/TrEMBL
  J3QSF9_HUMAN UniProtKB/TrEMBL
  P22570 ENTREZGENE
  Q13716 ENTREZGENE
  Q4PJI0 ENTREZGENE
  Q6GSK2 ENTREZGENE, UniProtKB/TrEMBL
  Q9BU12 ENTREZGENE
UniProt Secondary B4DDI7 UniProtKB/Swiss-Prot
  B4DHX5 UniProtKB/Swiss-Prot
  B4DQQ4 UniProtKB/Swiss-Prot
  B4DX24 UniProtKB/Swiss-Prot
  B7Z7G2 UniProtKB/Swiss-Prot
  E7EQC1 UniProtKB/Swiss-Prot
  Q13716 UniProtKB/Swiss-Prot
  Q4PJI0 UniProtKB/Swiss-Prot
  Q9BU12 UniProtKB/Swiss-Prot