SFXN1 (sideroflexin 1) - Rat Genome Database

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Gene: SFXN1 (sideroflexin 1) Homo sapiens
Analyze
Symbol: SFXN1
Name: sideroflexin 1
RGD ID: 1318276
HGNC Page HGNC:16085
Description: Enables L-alanine transmembrane transporter activity and L-serine transmembrane transporter activity. Involved in L-alanine transport; L-serine transport; and serine import into mitochondrion. Located in mitochondrial inner membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ12876; sideroflexin-1; SLC56A1; TCC; tricarboxylate carrier protein
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
GRCh385175,478,560 - 175,529,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5175,477,062 - 175,529,742 (+)EnsemblGRCh38hg38GRCh38
GRCh375174,905,563 - 174,956,745 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365174,838,189 - 174,888,218 (+)NCBINCBI36Build 36hg18NCBI36
Build 345174,838,188 - 174,888,218NCBI
Celera5170,944,525 - 170,994,642 (+)NCBICelera
Cytogenetic Map5q35.2NCBI
HuRef5170,004,689 - 170,054,733 (+)NCBIHuRef
CHM1_15174,337,958 - 174,388,345 (+)NCBICHM1_1
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (EXP)
diuron  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glutathione  (ISO)
indole-3-methanol  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
lamivudine  (ISO)
lead(0)  (EXP)
leflunomide  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nitrates  (ISO)
omeprazole  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
Propiverine  (ISO)
rifampicin  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8132490   PMID:8889548   PMID:11076863   PMID:11230166   PMID:11274051   PMID:11722557   PMID:12150972   PMID:12477932   PMID:14634051   PMID:14702039   PMID:15060089   PMID:15342556  
PMID:15489334   PMID:15489336   PMID:15589833   PMID:16344560   PMID:16381901   PMID:17353931   PMID:18029348   PMID:19322201   PMID:20186120   PMID:20562859   PMID:20877624   PMID:21081666  
PMID:21145461   PMID:21873635   PMID:22304920   PMID:22939629   PMID:23125841   PMID:23464991   PMID:24457600   PMID:24711643   PMID:25315684   PMID:25796446   PMID:25921289   PMID:26186194  
PMID:26209609   PMID:26344197   PMID:26496610   PMID:26618866   PMID:26972000   PMID:27025967   PMID:27184847   PMID:27218139   PMID:27342126   PMID:27499296   PMID:27503909   PMID:27684187  
PMID:28186131   PMID:28225217   PMID:28514442   PMID:28611215   PMID:28685749   PMID:29053956   PMID:29128334   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190  
PMID:29509794   PMID:29568061   PMID:29676528   PMID:29955894   PMID:29991511   PMID:30033366   PMID:30196744   PMID:30352685   PMID:30442778   PMID:30459231   PMID:30463901   PMID:30575818  
PMID:30619736   PMID:30884312   PMID:30948266   PMID:30995489   PMID:31073040   PMID:31091453   PMID:31239290   PMID:31536960   PMID:31586073   PMID:31620119   PMID:31796584   PMID:31871319  
PMID:31980649   PMID:31995728   PMID:32060556   PMID:32203420   PMID:32296183   PMID:32457219   PMID:32614325   PMID:32687490   PMID:32694731   PMID:32913203   PMID:32941674   PMID:32950919  
PMID:33022573   PMID:33301849   PMID:33306668   PMID:33567341   PMID:33730581   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34316702   PMID:34537242   PMID:34687317   PMID:34709727  
PMID:34800366   PMID:34901782   PMID:35008187   PMID:35032548   PMID:35140242   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35509820   PMID:35546148  
PMID:35844135   PMID:35878532   PMID:35915203   PMID:35944360   PMID:36042349   PMID:36057605   PMID:36114006   PMID:36215168   PMID:36232890   PMID:36282215   PMID:36339263   PMID:36424410  
PMID:36490346   PMID:36517590   PMID:36526897   PMID:37167062   PMID:37223481   PMID:37296228   PMID:37314216   PMID:37317656   PMID:37609425   PMID:37616343   PMID:37667382   PMID:37705046  
PMID:37820061   PMID:37827155   PMID:37931956   PMID:38113892   PMID:38233752   PMID:38537539   PMID:38569033   PMID:38697112   PMID:38849012   PMID:39147351  


Genomics

Comparative Map Data
SFXN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385175,478,560 - 175,529,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5175,477,062 - 175,529,742 (+)EnsemblGRCh38hg38GRCh38
GRCh375174,905,563 - 174,956,745 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365174,838,189 - 174,888,218 (+)NCBINCBI36Build 36hg18NCBI36
Build 345174,838,188 - 174,888,218NCBI
Celera5170,944,525 - 170,994,642 (+)NCBICelera
Cytogenetic Map5q35.2NCBI
HuRef5170,004,689 - 170,054,733 (+)NCBIHuRef
CHM1_15174,337,958 - 174,388,345 (+)NCBICHM1_1
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBIT2T-CHM13v2.0
Sfxn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391354,225,675 - 54,262,365 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1354,225,888 - 54,262,361 (+)EnsemblGRCm39 Ensembl
GRCm381354,071,656 - 54,108,346 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1354,071,869 - 54,108,342 (+)EnsemblGRCm38mm10GRCm38
MGSCv371354,167,214 - 54,203,715 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361354,081,490 - 54,117,966 (+)NCBIMGSCv36mm8
Celera1355,144,580 - 55,182,917 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1328.4NCBI
Sfxn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81710,491,315 - 10,527,793 (-)NCBIGRCr8
mRatBN7.21710,486,250 - 10,522,640 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1710,486,271 - 10,522,529 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1710,500,879 - 10,536,327 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01712,035,078 - 12,070,519 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01710,497,317 - 10,532,759 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01711,046,588 - 11,082,219 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1711,045,761 - 11,082,047 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01713,157,817 - 13,193,253 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41716,601,066 - 16,636,502 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11716,601,065 - 16,636,502 (-)NCBI
Celera1710,555,805 - 10,591,237 (-)NCBICelera
Cytogenetic Map17p14NCBI
Sfxn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540828,054,211 - 28,106,175 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540828,054,211 - 28,105,294 (+)NCBIChiLan1.0ChiLan1.0
SFXN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24170,608,863 - 170,660,457 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15168,748,446 - 168,798,866 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05170,825,507 - 170,876,741 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15177,726,518 - 177,776,344 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5177,738,961 - 177,775,212 (+)Ensemblpanpan1.1panPan2
SFXN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1437,485,360 - 37,517,743 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl437,487,438 - 37,512,289 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha437,431,872 - 37,472,432 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0437,851,035 - 37,891,568 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl437,851,044 - 37,891,597 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1437,675,678 - 37,716,181 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0437,863,646 - 37,904,164 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0438,373,604 - 38,414,131 (-)NCBIUU_Cfam_GSD_1.0
Sfxn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721392,004,958 - 92,032,126 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936609729,589 - 754,774 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936609727,621 - 754,806 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SFXN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl282,025,820 - 82,057,564 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1282,025,799 - 82,057,629 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2283,647,666 - 83,679,493 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SFXN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12377,625,740 - 77,675,935 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2377,625,775 - 77,674,907 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666034912,795 - 964,512 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sfxn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473314,403,957 - 14,452,280 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473314,404,646 - 14,451,943 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SFXN1
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
NM_022754.5(SFXN1):c.124G>A (p.Glu42Lys) single nucleotide variant Malignant melanoma [RCV000066850] Chr5:175492227 [GRCh38]
Chr5:174919230 [GRCh37]
Chr5:174851836 [NCBI36]
Chr5:5q35.2		 not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3 copy number gain See cases [RCV000142647] Chr5:173237772..176614618 [GRCh38]
Chr5:172664775..176041619 [GRCh37]
Chr5:172597381..175974225 [NCBI36]
Chr5:5q35.1-35.2		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3 copy number gain Breast ductal adenocarcinoma [RCV000207114] Chr5:173043321..174953690 [GRCh37]
Chr5:5q35.2		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_022754.7(SFXN1):c.77A>G (p.Asn26Ser) single nucleotide variant not provided [RCV000964996] Chr5:175492180 [GRCh38]
Chr5:174919183 [GRCh37]
Chr5:5q35.2		 benign
NM_022754.7(SFXN1):c.141G>A (p.Ala47=) single nucleotide variant not provided [RCV000910367] Chr5:175492244 [GRCh38]
Chr5:174919247 [GRCh37]
Chr5:5q35.2		 benign
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_022754.7(SFXN1):c.578T>C (p.Ile193Thr) single nucleotide variant not specified [RCV004327479] Chr5:175512178 [GRCh38]
Chr5:174939181 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.364T>C (p.Trp122Arg) single nucleotide variant not specified [RCV004175771] Chr5:175510137 [GRCh38]
Chr5:174937140 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.565A>C (p.Asn189His) single nucleotide variant not specified [RCV004113975] Chr5:175512165 [GRCh38]
Chr5:174939168 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.475G>A (p.Val159Ile) single nucleotide variant not specified [RCV004071543] Chr5:175511491 [GRCh38]
Chr5:174938494 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.472G>A (p.Ala158Thr) single nucleotide variant not specified [RCV004152651] Chr5:175511488 [GRCh38]
Chr5:174938491 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.898G>A (p.Ala300Thr) single nucleotide variant not specified [RCV004186966] Chr5:175526663 [GRCh38]
Chr5:174953666 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.829G>A (p.Val277Met) single nucleotide variant not specified [RCV004173774] Chr5:175522379 [GRCh38]
Chr5:174949382 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.587T>C (p.Met196Thr) single nucleotide variant not specified [RCV004091362] Chr5:175512187 [GRCh38]
Chr5:174939190 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.764C>T (p.Ala255Val) single nucleotide variant not specified [RCV004310190] Chr5:175516653 [GRCh38]
Chr5:174943656 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.653C>T (p.Ser218Leu) single nucleotide variant not specified [RCV004263722] Chr5:175513519 [GRCh38]
Chr5:174940522 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.229T>G (p.Ser77Ala) single nucleotide variant not specified [RCV004256718] Chr5:175509096 [GRCh38]
Chr5:174936099 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.38A>G (p.Glu13Gly) single nucleotide variant not specified [RCV004352868] Chr5:175492141 [GRCh38]
Chr5:174919144 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.415G>C (p.Asp139His) single nucleotide variant not specified [RCV004344777] Chr5:175510188 [GRCh38]
Chr5:174937191 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.656C>T (p.Ala219Val) single nucleotide variant not specified [RCV004348300] Chr5:175513522 [GRCh38]
Chr5:174940525 [GRCh37]
Chr5:5q35.2		 uncertain significance
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1 copy number loss not provided [RCV003485492] Chr5:171836503..176517734 [GRCh37]
Chr5:5q35.1-35.2		 pathogenic
NM_022754.7(SFXN1):c.240T>A (p.His80Gln) single nucleotide variant not specified [RCV004455852] Chr5:175509107 [GRCh38]
Chr5:174936110 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.242C>T (p.Pro81Leu) single nucleotide variant not specified [RCV004455853] Chr5:175509109 [GRCh38]
Chr5:174936112 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.224A>G (p.Tyr75Cys) single nucleotide variant not specified [RCV004455851] Chr5:175509091 [GRCh38]
Chr5:174936094 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.692T>C (p.Val231Ala) single nucleotide variant not specified [RCV004455854] Chr5:175513558 [GRCh38]
Chr5:174940561 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.211G>C (p.Ala71Pro) single nucleotide variant not specified [RCV004666204] Chr5:175509078 [GRCh38]
Chr5:174936081 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.29A>G (p.Asn10Ser) single nucleotide variant not specified [RCV004856599] Chr5:175492132 [GRCh38]
Chr5:174919135 [GRCh37]
Chr5:5q35.2		 uncertain significance
GRCh37/hg19 5q35.2(chr5:173733338-175855039)x1 copy number loss not provided [RCV004819792] Chr5:173733338..175855039 [GRCh37]
Chr5:5q35.2		 uncertain significance
GRCh37/hg19 5q35.2(chr5:174895181-175134507)x1 copy number loss not provided [RCV004819793] Chr5:174895181..175134507 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.181C>G (p.Pro61Ala) single nucleotide variant not specified [RCV004856598] Chr5:175509048 [GRCh38]
Chr5:174936051 [GRCh37]
Chr5:5q35.2		 uncertain significance
NM_022754.7(SFXN1):c.713C>G (p.Ala238Gly) single nucleotide variant not specified [RCV004856600] Chr5:175513579 [GRCh38]
Chr5:174940582 [GRCh37]
Chr5:5q35.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3302
Count of miRNA genes:1293
Interacting mature miRNAs:1646
Transcripts:ENST00000321442, ENST00000421887, ENST00000502393, ENST00000502865, ENST00000506963, ENST00000507017, ENST00000507395, ENST00000507823, ENST00000508290, ENST00000513725, ENST00000515736, ENST00000515791
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
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
597282685GWAS1378759_Hglutamine measurement QTL GWAS1378759 (human)4e-15glutamine measurementblood amino acid measurement (CMO:0003730)5175521940175521941Human
597161329GWAS1257403_Hglutamine measurement QTL GWAS1257403 (human)2e-13glutamine measurementblood amino acid measurement (CMO:0003730)5175521940175521941Human
597278468GWAS1374542_HAlzheimer disease, polygenic risk score QTL GWAS1374542 (human)2e-08Alzheimer disease, polygenic risk score5175513233175513234Human

Markers in Region
D5S2034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375174,927,375 - 174,927,581UniSTSGRCh37
Build 365174,859,981 - 174,860,187RGDNCBI36
Celera5170,966,385 - 170,966,587RGD
HuRef5170,026,520 - 170,026,728UniSTS
Marshfield Genetic Map5187.81RGD
Marshfield Genetic Map5187.81UniSTS
Genethon Genetic Map5187.9UniSTS
WI-16996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375174,950,857 - 174,951,006UniSTSGRCh37
Build 365174,883,463 - 174,883,612RGDNCBI36
Celera5170,989,859 - 170,990,008RGD
HuRef5170,049,991 - 170,050,140UniSTS
GeneMap99-GB4 RH Map5643.0UniSTS
Whitehead-RH Map5539.9UniSTS
NCBI RH Map5973.0UniSTS
RH102536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375174,956,362 - 174,956,514UniSTSGRCh37
Build 365174,888,968 - 174,889,120RGDNCBI36
Celera5170,995,383 - 170,995,539RGD
HuRef5170,055,474 - 170,055,630UniSTS
GeneMap99-GB4 RH Map5642.9UniSTS
SHGC-145688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375174,932,523 - 174,932,807UniSTSGRCh37
Build 365174,865,129 - 174,865,413RGDNCBI36
Celera5170,971,529 - 170,971,807RGD
HuRef5170,031,670 - 170,031,942UniSTS
TNG Radiation Hybrid Map581865.0UniSTS
SHGC-148498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375174,932,052 - 174,932,242UniSTSGRCh37
Build 365174,864,658 - 174,864,848RGDNCBI36
Celera5170,971,058 - 170,971,248RGD
HuRef5170,031,199 - 170,031,389UniSTS
TNG Radiation Hybrid Map581870.0UniSTS
RH68876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375174,955,243 - 174,955,516UniSTSGRCh37
Build 365174,887,849 - 174,888,122RGDNCBI36
Celera5170,994,264 - 170,994,537RGD
HuRef5170,054,355 - 170,054,628UniSTS
GeneMap99-GB4 RH Map5636.81UniSTS
WI-11328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375174,953,958 - 174,954,057UniSTSGRCh37
Build 365174,886,564 - 174,886,663RGDNCBI36
Celera5170,992,980 - 170,993,079RGD
HuRef5170,053,070 - 170,053,169UniSTS
GeneMap99-GB4 RH Map5642.9UniSTS
Whitehead-RH Map5538.6UniSTS
NCBI RH Map5973.0UniSTS
D11S3732  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
D10S16   No map positions available.
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
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Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001322977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF327346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP199230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU689165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN480623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA753705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000321442   ⟹   ENSP00000316905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,560 - 175,529,742 (+)Ensembl
Ensembl Acc Id: ENST00000421887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,521,886 - 175,526,883 (+)Ensembl
Ensembl Acc Id: ENST00000502393   ⟹   ENSP00000473710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,575 - 175,511,579 (+)Ensembl
Ensembl Acc Id: ENST00000502865   ⟹   ENSP00000424270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,492,207 - 175,516,662 (+)Ensembl
Ensembl Acc Id: ENST00000506963   ⟹   ENSP00000421467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,592 - 175,512,181 (+)Ensembl
Ensembl Acc Id: ENST00000507017   ⟹   ENSP00000420961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,477,062 - 175,510,207 (+)Ensembl
Ensembl Acc Id: ENST00000507395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,565 - 175,492,546 (+)Ensembl
Ensembl Acc Id: ENST00000507823   ⟹   ENSP00000421982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,590 - 175,524,103 (+)Ensembl
Ensembl Acc Id: ENST00000508290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,564 - 175,509,403 (+)Ensembl
Ensembl Acc Id: ENST00000513725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,591 - 175,510,312 (+)Ensembl
Ensembl Acc Id: ENST00000515736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,511,436 - 175,513,738 (+)Ensembl
Ensembl Acc Id: ENST00000515791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,478,566 - 175,491,988 (+)Ensembl
RefSeq Acc Id: NM_001322977   ⟹   NP_001309906
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,478,560 - 175,529,742 (+)NCBI
CHM1_15174,337,945 - 174,389,469 (+)NCBI
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322978   ⟹   NP_001309907
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,478,560 - 175,529,742 (+)NCBI
CHM1_15174,337,945 - 174,389,469 (+)NCBI
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322980   ⟹   NP_001309909
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,478,560 - 175,529,742 (+)NCBI
CHM1_15174,337,945 - 174,389,469 (+)NCBI
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322981   ⟹   NP_001309910
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,478,560 - 175,529,742 (+)NCBI
CHM1_15174,337,945 - 174,389,469 (+)NCBI
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322982   ⟹   NP_001309911
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,478,560 - 175,529,742 (+)NCBI
CHM1_15174,337,945 - 174,389,469 (+)NCBI
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322983   ⟹   NP_001309912
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,478,560 - 175,513,736 (+)NCBI
CHM1_15174,337,945 - 174,373,161 (+)NCBI
T2T-CHM13v2.05176,022,352 - 176,057,540 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022754   ⟹   NP_073591
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,478,560 - 175,529,742 (+)NCBI
GRCh375174,905,514 - 174,956,745 (+)NCBI
Build 365174,838,189 - 174,888,218 (+)NCBI Archive
Celera5170,944,525 - 170,994,642 (+)RGD
HuRef5170,004,689 - 170,054,733 (+)ENTREZGENE
CHM1_15174,337,945 - 174,389,469 (+)NCBI
T2T-CHM13v2.05176,022,352 - 176,073,526 (+)NCBI
Sequence:
RefSeq Acc Id: NP_073591   ⟸   NM_022754
- Peptide Label: isoform 1
- UniProtKB: D3DQN2 (UniProtKB/Swiss-Prot),   B3KPW3 (UniProtKB/Swiss-Prot),   Q9HA53 (UniProtKB/Swiss-Prot),   Q9H9B4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309906   ⟸   NM_001322977
- Peptide Label: isoform 1
- UniProtKB: D3DQN2 (UniProtKB/Swiss-Prot),   B3KPW3 (UniProtKB/Swiss-Prot),   Q9HA53 (UniProtKB/Swiss-Prot),   Q9H9B4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309910   ⟸   NM_001322981
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001309911   ⟸   NM_001322982
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001309909   ⟸   NM_001322980
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001309907   ⟸   NM_001322978
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001309912   ⟸   NM_001322983
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000473710   ⟸   ENST00000502393
Ensembl Acc Id: ENSP00000424270   ⟸   ENST00000502865
Ensembl Acc Id: ENSP00000421467   ⟸   ENST00000506963
Ensembl Acc Id: ENSP00000420961   ⟸   ENST00000507017
Ensembl Acc Id: ENSP00000316905   ⟸   ENST00000321442
Ensembl Acc Id: ENSP00000421982   ⟸   ENST00000507823

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H9B4-F1-model_v2 AlphaFold Q9H9B4 1-322 view protein structure

Promoters
RGD ID:6803538
Promoter ID:HG_KWN:51833
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000252980,   UC003MDB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365174,838,034 - 174,838,534 (+)MPROMDB
RGD ID:6871624
Promoter ID:EPDNEW_H8965
Type:initiation region
Name:SFXN1_1
Description:sideroflexin 1
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
GRCh385175,478,569 - 175,478,629EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16085 AgrOrtholog
COSMIC SFXN1 COSMIC
Ensembl Genes ENSG00000164466 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321442 ENTREZGENE
  ENST00000321442.10 UniProtKB/Swiss-Prot
  ENST00000502393.5 UniProtKB/TrEMBL
  ENST00000502865.5 UniProtKB/TrEMBL
  ENST00000506963.1 UniProtKB/TrEMBL
  ENST00000507017.5 UniProtKB/TrEMBL
  ENST00000507823.5 UniProtKB/TrEMBL
GTEx ENSG00000164466 GTEx
HGNC ID HGNC:16085 ENTREZGENE
Human Proteome Map SFXN1 Human Proteome Map
InterPro Mtc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:94081 UniProtKB/Swiss-Prot
NCBI Gene 94081 ENTREZGENE
OMIM 615569 OMIM
PANTHER PTHR11153 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIDEROFLEXIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mtc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38090 PharmGKB
UniProt B3KPW3 ENTREZGENE
  D3DQN2 ENTREZGENE
  D6RAE9_HUMAN UniProtKB/TrEMBL
  D6RDG7_HUMAN UniProtKB/TrEMBL
  D6RFI0_HUMAN UniProtKB/TrEMBL
  H0Y9J5_HUMAN UniProtKB/TrEMBL
  Q9H9B4 ENTREZGENE
  Q9HA53 ENTREZGENE
  S4R2X2_HUMAN UniProtKB/TrEMBL
  SFXN1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KPW3 UniProtKB/Swiss-Prot
  D3DQN2 UniProtKB/Swiss-Prot
  Q9HA53 UniProtKB/Swiss-Prot