CIAO3 (cytosolic iron-sulfur assembly component 3) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CIAO3 (cytosolic iron-sulfur assembly component 3) Homo sapiens
Analyze
Symbol: CIAO3
Name: cytosolic iron-sulfur assembly component 3
RGD ID: 1314335
HGNC Page HGNC:14179
Description: Predicted to enable 4 iron, 4 sulfur cluster binding activity and metal ion binding activity. Involved in several processes, including intracellular oxygen homeostasis; iron-sulfur cluster assembly; and response to hypoxia. Part of cytosolic [4Fe-4S] assembly targeting complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cytosolic Fe-S cluster assembly factor NARFL; FLJ21988; HPRN; IOP1; iron-only hydrogenase-like protein 1; LET1 like/JFP15; LET1L; NAR1; NARFL; nuclear prelamin A recognition factor like; nuclear prelamin A recognition factor-like; PRN; protein related to Narf
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
GRCh3816729,765 - 740,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16729,760 - 741,329 (-)EnsemblGRCh38hg38GRCh38
GRCh3716779,765 - 790,997 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3616719,768 - 730,998 (-)NCBINCBI36Build 36hg18NCBI36
Celera16979,932 - 991,162 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16701,355 - 713,420 (-)NCBIHuRef
CHM1_116779,737 - 790,967 (-)NCBICHM1_1
T2T-CHM13v2.016733,939 - 745,171 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. 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.
2. Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Paul VD and Lill R, Biochim Biophys Acta. 2015 Jun;1853(6):1528-39. doi: 10.1016/j.bbamcr.2014.12.018. Epub 2015 Jan 10.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:11157797   PMID:12477932   PMID:14702039   PMID:16344560   PMID:16956324   PMID:18270200   PMID:19864422   PMID:20881960   PMID:21832049   PMID:21873635  
PMID:22658674   PMID:22678361   PMID:22678362   PMID:23585563   PMID:23891004   PMID:25429064   PMID:26186194   PMID:26496610   PMID:27835862   PMID:28514442   PMID:28986522   PMID:32222833  
PMID:32807901   PMID:33961781   PMID:34373451   PMID:35256949   PMID:35575683   PMID:35831314   PMID:35914814   PMID:36215168   PMID:37689310   PMID:37821486   PMID:37866880  


Genomics

Comparative Map Data
CIAO3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3816729,765 - 740,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16729,760 - 741,329 (-)EnsemblGRCh38hg38GRCh38
GRCh3716779,765 - 790,997 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3616719,768 - 730,998 (-)NCBINCBI36Build 36hg18NCBI36
Celera16979,932 - 991,162 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16701,355 - 713,420 (-)NCBIHuRef
CHM1_116779,737 - 790,967 (-)NCBICHM1_1
T2T-CHM13v2.016733,939 - 745,171 (-)NCBIT2T-CHM13v2.0
Ciao3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,992,750 - 26,002,306 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1725,992,750 - 26,002,306 (+)EnsemblGRCm39 Ensembl
GRCm381725,773,776 - 25,783,332 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,773,776 - 25,783,332 (+)EnsemblGRCm38mm10GRCm38
MGSCv371725,910,721 - 25,920,277 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361725,501,400 - 25,510,932 (+)NCBIMGSCv36mm8
Celera1726,306,378 - 26,316,138 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.88NCBI
Ciao3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81015,300,403 - 15,309,467 (+)NCBIGRCr8
mRatBN7.21014,795,888 - 14,804,953 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,795,961 - 14,804,950 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1019,535,018 - 19,543,954 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01019,023,897 - 19,032,831 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01014,524,003 - 14,532,951 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01015,143,732 - 15,152,706 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1015,143,713 - 15,153,396 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,956,675 - 14,965,649 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41015,041,376 - 15,050,350 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11015,041,375 - 15,050,349 (+)NCBI
Celera1014,464,975 - 14,473,945 (+)NCBICelera
Cytogenetic Map10q12NCBI
Ciao3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544216,465,178 - 16,475,110 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544216,465,759 - 16,475,110 (+)NCBIChiLan1.0ChiLan1.0
CIAO3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v218970,394 - 981,690 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1164,754,231 - 4,765,546 (-)NCBINHGRI_mPanPan1
PanPan1.116742,818 - 754,087 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl16742,818 - 754,087 (-)Ensemblpanpan1.1panPan2
CIAO3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,846,782 - 39,853,952 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,846,856 - 39,853,956 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha641,111,447 - 41,118,616 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0640,189,920 - 40,197,089 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl640,189,928 - 40,198,067 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1639,878,530 - 39,885,699 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,838,744 - 39,845,912 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0640,317,618 - 40,324,787 (+)NCBIUU_Cfam_GSD_1.0
Ciao3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344112,179,668 - 112,189,069 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936501277,518 - 286,932 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936501277,525 - 286,929 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIAO3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl341,042,702 - 41,050,012 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1341,042,672 - 41,050,013 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,427,901 - 41,435,243 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CIAO3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.15649,457 - 661,085 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl5650,100 - 660,518 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606830,475,095 - 30,486,224 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ciao3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249131,538,546 - 1,553,415 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249131,538,561 - 1,553,409 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIAO3
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3
pathogenic
NM_022493.2(NARFL):c.574+155C>T single nucleotide variant Malignant melanoma [RCV000071223] Chr16:734582 [GRCh38]
Chr16:784582 [GRCh37]
Chr16:724583 [NCBI36]
Chr16:16p13.3
not provided
NM_022493.2(NARFL):c.277G>A (p.Glu93Lys) single nucleotide variant Malignant melanoma [RCV000071224] Chr16:737215 [GRCh38]
Chr16:787215 [GRCh37]
Chr16:727216 [NCBI36]
Chr16:16p13.3
not provided
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-882211)x1 copy number loss See cases [RCV000137979] Chr16:46766..882211 [GRCh38]
Chr16:96766..932211 [GRCh37]
Chr16:36766..872212 [NCBI36]
Chr16:16p13.3
pathogenic|uncertain significance
GRCh38/hg38 16p13.3(chr16:412341-925326)x3 copy number gain See cases [RCV000139354] Chr16:412341..925326 [GRCh38]
Chr16:462341..975326 [GRCh37]
Chr16:402342..915327 [NCBI36]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:636673-786508)x3 copy number gain See cases [RCV000140337] Chr16:636673..786508 [GRCh38]
Chr16:686673..836508 [GRCh37]
Chr16:626674..776509 [NCBI36]
Chr16:16p13.3
benign
GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 copy number loss See cases [RCV000141384] Chr16:59980..1221651 [GRCh38]
Chr16:109978..1271651 [GRCh37]
Chr16:49978..1211652 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3(chr16:450686-1007236)x3 copy number gain See cases [RCV000239842] Chr16:450686..1007236 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3(chr16:772433-857560)x3 copy number gain Breast ductal adenocarcinoma [RCV000207201] Chr16:772433..857560 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3 copy number gain Breast ductal adenocarcinoma [RCV000207237] Chr16:97494..1257060 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:239130-841725)x3 copy number gain See cases [RCV000240506] Chr16:239130..841725 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_022493.3(CIAO3):c.22G>A (p.Ala8Thr) single nucleotide variant not specified [RCV004306471] Chr16:740964 [GRCh38]
Chr16:790964 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.140G>C (p.Gly47Ala) single nucleotide variant not specified [RCV004322879] Chr16:739665 [GRCh38]
Chr16:789665 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:591586-784800)x3 copy number gain not provided [RCV000738948] Chr16:591586..784800 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:624108-780942)x3 copy number gain not provided [RCV000738956] Chr16:624108..780942 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:624108-784800)x3 copy number gain not provided [RCV000738957] Chr16:624108..784800 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:682670-784800)x3 copy number gain not provided [RCV000738959] Chr16:682670..784800 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:683959-781623)x3 copy number gain not provided [RCV000738960] Chr16:683959..781623 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:683959-784800)x3 copy number gain not provided [RCV000738961] Chr16:683959..784800 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:569754-781623)x3 copy number gain not provided [RCV000751474] Chr16:569754..781623 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:569754-847743)x3 copy number gain not provided [RCV000751475] Chr16:569754..847743 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:570466-781623)x3 copy number gain not provided [RCV000751476] Chr16:570466..781623 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:580124-875402)x1 copy number loss not provided [RCV000751479] Chr16:580124..875402 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:747013-781623)x4 copy number gain not provided [RCV000751482] Chr16:747013..781623 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:747013-784800)x3 copy number gain not provided [RCV000751483] Chr16:747013..784800 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:749057-781623)x4 copy number gain not provided [RCV000751484] Chr16:749057..781623 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:767519-781623)x3 copy number gain not provided [RCV000751485] Chr16:767519..781623 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:769853-781623)x3 copy number gain not provided [RCV000751486] Chr16:769853..781623 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:772978-780545)x3 copy number gain not provided [RCV000751487] Chr16:772978..780545 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:782361-847743)x3 copy number gain not provided [RCV000751488] Chr16:782361..847743 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:450309-951598)x3 copy number gain not provided [RCV000751466] Chr16:450309..951598 [GRCh37]
Chr16:16p13.3
benign
NM_022493.3(CIAO3):c.274G>A (p.Glu92Lys) single nucleotide variant not provided [RCV000895478] Chr16:737218 [GRCh38]
Chr16:787218 [GRCh37]
Chr16:16p13.3
likely benign
NM_022493.3(CIAO3):c.500G>A (p.Arg167Gln) single nucleotide variant not specified [RCV004297900] Chr16:734811 [GRCh38]
Chr16:784811 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1338G>A (p.Leu446=) single nucleotide variant not provided [RCV000972897] Chr16:730510 [GRCh38]
Chr16:780510 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.1303G>A (p.Ala435Thr) single nucleotide variant not provided [RCV000897195] Chr16:730545 [GRCh38]
Chr16:780545 [GRCh37]
Chr16:16p13.3
likely benign
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.1112G>A (p.Arg371His) single nucleotide variant High myopia [RCV000785708]|not specified [RCV004027183] Chr16:730923 [GRCh38]
Chr16:780923 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1273G>A (p.Gly425Ser) single nucleotide variant not provided [RCV000891907] Chr16:730575 [GRCh38]
Chr16:780575 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 copy number loss not provided [RCV000848130] Chr16:85880..1468459 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-830613)x1 copy number loss not provided [RCV000846660] Chr16:85880..830613 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.112G>A (p.Val38Met) single nucleotide variant not provided [RCV000887027] Chr16:739693 [GRCh38]
Chr16:789693 [GRCh37]
Chr16:16p13.3
benign
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.1193-9C>T single nucleotide variant not provided [RCV000890253] Chr16:730664 [GRCh38]
Chr16:780664 [GRCh37]
Chr16:16p13.3
benign
NM_022493.3(CIAO3):c.693+9G>A single nucleotide variant not provided [RCV000912935] Chr16:734220 [GRCh38]
Chr16:784220 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:85880-1166355)x1 copy number loss not provided [RCV001006741] Chr16:85880..1166355 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:364182-1186480)x3 copy number gain not provided [RCV001006744] Chr16:364182..1186480 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.451G>A (p.Val151Ile) single nucleotide variant not specified [RCV004610627] Chr16:734860 [GRCh38]
Chr16:784860 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.62C>A (p.Ser21Tyr) single nucleotide variant not specified [RCV004610625] Chr16:740924 [GRCh38]
Chr16:790924 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_765584)_(1204036_?)del deletion Idiopathic generalized epilepsy [RCV001352399] Chr16:765584..1204036 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1468828) copy number loss not specified [RCV002052500] Chr16:85880..1468828 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3
pathogenic|no classifications from unflagged records
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.379C>T (p.Arg127Trp) single nucleotide variant not specified [RCV004299304] Chr16:736326 [GRCh38]
Chr16:786326 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:726789-1066511)x1 copy number loss not provided [RCV002473519] Chr16:726789..1066511 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 copy number loss not provided [RCV002474576] Chr16:85881..1350186 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.1402G>A (p.Ala468Thr) single nucleotide variant not specified [RCV004299723] Chr16:730446 [GRCh38]
Chr16:780446 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.52A>T (p.Ile18Phe) single nucleotide variant not specified [RCV004266330] Chr16:740934 [GRCh38]
Chr16:790934 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.667G>C (p.Val223Leu) single nucleotide variant not specified [RCV004251149] Chr16:734255 [GRCh38]
Chr16:784255 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1379C>T (p.Thr460Met) single nucleotide variant not specified [RCV004269814] Chr16:730469 [GRCh38]
Chr16:780469 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.226G>A (p.Gly76Ser) single nucleotide variant not specified [RCV004250761] Chr16:737266 [GRCh38]
Chr16:787266 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.511C>T (p.Arg171Trp) single nucleotide variant not specified [RCV004255245] Chr16:734800 [GRCh38]
Chr16:784800 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1355A>G (p.Glu452Gly) single nucleotide variant not specified [RCV004254673] Chr16:730493 [GRCh38]
Chr16:780493 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.904G>A (p.Gly302Ser) single nucleotide variant not specified [RCV004340442] Chr16:731695 [GRCh38]
Chr16:781695 [GRCh37]
Chr16:16p13.3
likely benign
NM_022493.3(CIAO3):c.1145G>A (p.Arg382Gln) single nucleotide variant not specified [RCV004352097] Chr16:730890 [GRCh38]
Chr16:780890 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.1409C>G (p.Thr470Ser) single nucleotide variant not specified [RCV004441739] Chr16:730439 [GRCh38]
Chr16:780439 [GRCh37]
Chr16:16p13.3
likely benign
NM_022493.3(CIAO3):c.208G>A (p.Asp70Asn) single nucleotide variant not specified [RCV004441741] Chr16:737284 [GRCh38]
Chr16:787284 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.979G>A (p.Ala327Thr) single nucleotide variant not specified [RCV004441751] Chr16:731620 [GRCh38]
Chr16:781620 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.125G>A (p.Arg42His) single nucleotide variant not specified [RCV004441738] Chr16:739680 [GRCh38]
Chr16:789680 [GRCh37]
Chr16:16p13.3
likely benign
NM_022493.3(CIAO3):c.1423C>T (p.Arg475Trp) single nucleotide variant not specified [RCV004441740] Chr16:730425 [GRCh38]
Chr16:780425 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.58C>G (p.Pro20Ala) single nucleotide variant not specified [RCV004441743] Chr16:740928 [GRCh38]
Chr16:790928 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.638G>A (p.Arg213Gln) single nucleotide variant not specified [RCV004441744] Chr16:734284 [GRCh38]
Chr16:784284 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.779A>G (p.Asn260Ser) single nucleotide variant not specified [RCV004441746] Chr16:733342 [GRCh38]
Chr16:783342 [GRCh37]
Chr16:16p13.3
likely benign
NM_022493.3(CIAO3):c.811G>A (p.Val271Ile) single nucleotide variant not specified [RCV004441747] Chr16:733310 [GRCh38]
Chr16:783310 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.934C>T (p.Arg312Trp) single nucleotide variant not specified [RCV004441748] Chr16:731665 [GRCh38]
Chr16:781665 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.973C>T (p.Arg325Trp) single nucleotide variant not specified [RCV004441750] Chr16:731626 [GRCh38]
Chr16:781626 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.721G>A (p.Val241Ile) single nucleotide variant not specified [RCV004441745] Chr16:733400 [GRCh38]
Chr16:783400 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.947C>T (p.Ser316Leu) single nucleotide variant not specified [RCV004441749] Chr16:731652 [GRCh38]
Chr16:781652 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1150C>T (p.Arg384Cys) single nucleotide variant not specified [RCV004441737] Chr16:730885 [GRCh38]
Chr16:780885 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.235A>T (p.Thr79Ser) single nucleotide variant not specified [RCV004441742] Chr16:737257 [GRCh38]
Chr16:787257 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.3G>T (p.Met1Ile) single nucleotide variant Pulmonary arteriovenous malformation [RCV003985146] Chr16:740983 [GRCh38]
Chr16:790983 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1557737_?)del deletion not provided [RCV004582850] Chr16:256302..1557737 [GRCh37]
Chr16:16p13.3
pathogenic
NM_022493.3(CIAO3):c.1424G>A (p.Arg475Gln) single nucleotide variant not specified [RCV004610626] Chr16:730424 [GRCh38]
Chr16:780424 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.862C>A (p.Leu288Ile) single nucleotide variant not specified [RCV004610628] Chr16:732335 [GRCh38]
Chr16:782335 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.853G>A (p.Gly285Ser) single nucleotide variant not specified [RCV004610630] Chr16:732344 [GRCh38]
Chr16:782344 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1093G>T (p.Ala365Ser) single nucleotide variant not specified [RCV004610634] Chr16:730942 [GRCh38]
Chr16:780942 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_396128)_(1204056_?)dup duplication Idiopathic generalized epilepsy [RCV004581577] Chr16:396128..1204056 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.380G>A (p.Arg127Gln) single nucleotide variant not specified [RCV004610635] Chr16:736325 [GRCh38]
Chr16:786325 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.463G>A (p.Ala155Thr) single nucleotide variant not specified [RCV004610629] Chr16:734848 [GRCh38]
Chr16:784848 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.935G>A (p.Arg312Gln) single nucleotide variant not specified [RCV004610624] Chr16:731664 [GRCh38]
Chr16:781664 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1283G>A (p.Arg428Gln) single nucleotide variant not specified [RCV004610631] Chr16:730565 [GRCh38]
Chr16:780565 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1054G>A (p.Val352Met) single nucleotide variant not specified [RCV004610632] Chr16:730981 [GRCh38]
Chr16:780981 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_022493.3(CIAO3):c.1290G>T (p.Glu430Asp) single nucleotide variant not specified [RCV004610636] Chr16:730558 [GRCh38]
Chr16:780558 [GRCh37]
Chr16:16p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7499
Count of miRNA genes:1170
Interacting mature miRNAs:1510
Transcripts:ENST00000251588, ENST00000301694, ENST00000540986, ENST00000562421, ENST00000562752, ENST00000562862, ENST00000563051, ENST00000563534, ENST00000564285, ENST00000565065, ENST00000565341, ENST00000565425, ENST00000565693, ENST00000566614, ENST00000566650, ENST00000567172, ENST00000567403, ENST00000567455, ENST00000568545, ENST00000569759, ENST00000570066, ENST00000570289
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
407303766GWAS952742_Hlean body mass QTL GWAS952742 (human)2e-19body lean mass (VT:0010483)total body lean mass (CMO:0003950)16733865733866Human
407296071GWAS945047_HBMI-adjusted hip circumference QTL GWAS945047 (human)8e-21BMI-adjusted hip circumferencehip circumference (CMO:0000014)16733865733866Human
407391243GWAS1040219_HBMI-adjusted hip circumference QTL GWAS1040219 (human)3e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)16733864733865Human
407298291GWAS947267_Happendicular lean mass QTL GWAS947267 (human)3e-40appendicular lean mass16733865733866Human
407407837GWAS1056813_Hsexual dimorphism measurement QTL GWAS1056813 (human)2e-11sexual dimorphism measurement16733864733865Human
407027531GWAS676507_Hbody height QTL GWAS676507 (human)0.0000001body height (VT:0001253)body height (CMO:0000106)16733156733157Human
406975692GWAS624668_Hbody height QTL GWAS624668 (human)3e-77body height (VT:0001253)body height (CMO:0000106)16733865733866Human
406897150GWAS546126_Hbody surface area QTL GWAS546126 (human)2e-23body surface area16733864733865Human
407149882GWAS798858_HBMI-adjusted waist circumference QTL GWAS798858 (human)7e-15BMI-adjusted waist circumference16731292731293Human

Markers in Region
D16S314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716789,278 - 791,515UniSTSGRCh37
Build 3616729,279 - 731,516RGDNCBI36
Celera16989,443 - 991,680RGD
HuRef16711,701 - 713,938UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
D11S3663  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map8q22.3UniSTS


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_001304799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AE006464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU741568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA153375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB126434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000251588   ⟹   ENSP00000251588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16729,765 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000540986   ⟹   ENSP00000444008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16729,766 - 740,934 (-)Ensembl
Ensembl Acc Id: ENST00000562421   ⟹   ENSP00000456701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16732,332 - 737,755 (-)Ensembl
Ensembl Acc Id: ENST00000562752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16733,841 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000562862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16730,105 - 734,238 (-)Ensembl
Ensembl Acc Id: ENST00000563051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16729,771 - 732,900 (-)Ensembl
Ensembl Acc Id: ENST00000563534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16734,715 - 737,464 (-)Ensembl
Ensembl Acc Id: ENST00000564285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16730,202 - 732,900 (-)Ensembl
Ensembl Acc Id: ENST00000565065   ⟹   ENSP00000455543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16734,771 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000565341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16733,702 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000565425   ⟹   ENSP00000456497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16729,809 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000565693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16737,981 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000566614   ⟹   ENSP00000459523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16734,845 - 741,329 (-)Ensembl
Ensembl Acc Id: ENST00000566650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16729,766 - 733,334 (-)Ensembl
Ensembl Acc Id: ENST00000567172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16739,318 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000567403   ⟹   ENSP00000456733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16734,284 - 737,752 (-)Ensembl
Ensembl Acc Id: ENST00000567455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16736,994 - 740,997 (-)Ensembl
Ensembl Acc Id: ENST00000568545   ⟹   ENSP00000457058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16729,760 - 737,889 (-)Ensembl
Ensembl Acc Id: ENST00000569759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16734,078 - 736,370 (-)Ensembl
Ensembl Acc Id: ENST00000570066   ⟹   ENSP00000457609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16736,368 - 741,015 (-)Ensembl
Ensembl Acc Id: ENST00000570289   ⟹   ENSP00000455514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16736,265 - 740,988 (-)Ensembl
RefSeq Acc Id: NM_001304799   ⟹   NP_001291728
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816729,765 - 740,997 (-)NCBI
CHM1_116779,723 - 791,008 (-)NCBI
T2T-CHM13v2.016733,939 - 745,171 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022493   ⟹   NP_071938
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816729,765 - 740,997 (-)NCBI
GRCh3716779,753 - 790,997 (-)NCBI
Build 3616719,768 - 730,998 (-)NCBI Archive
Celera16979,932 - 991,162 (-)RGD
HuRef16701,355 - 713,420 (-)ENTREZGENE
CHM1_116779,723 - 791,008 (-)NCBI
T2T-CHM13v2.016733,939 - 745,171 (-)NCBI
Sequence:
RefSeq Acc Id: NP_071938   ⟸   NM_022493
- Peptide Label: isoform 1
- UniProtKB: Q9H6Q4 (UniProtKB/Swiss-Prot),   Q9H6J8 (UniProtKB/Swiss-Prot),   Q96S10 (UniProtKB/Swiss-Prot),   Q53GC6 (UniProtKB/Swiss-Prot),   B3KTJ3 (UniProtKB/Swiss-Prot),   A1L385 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291728   ⟸   NM_001304799
- Peptide Label: isoform 2
- UniProtKB: B3KPK9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000455514   ⟸   ENST00000570289
Ensembl Acc Id: ENSP00000457609   ⟸   ENST00000570066
Ensembl Acc Id: ENSP00000456701   ⟸   ENST00000562421
Ensembl Acc Id: ENSP00000455543   ⟸   ENST00000565065
Ensembl Acc Id: ENSP00000456497   ⟸   ENST00000565425
Ensembl Acc Id: ENSP00000459523   ⟸   ENST00000566614
Ensembl Acc Id: ENSP00000456733   ⟸   ENST00000567403
Ensembl Acc Id: ENSP00000457058   ⟸   ENST00000568545
Ensembl Acc Id: ENSP00000444008   ⟸   ENST00000540986
Ensembl Acc Id: ENSP00000251588   ⟸   ENST00000251588
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H6Q4-F1-model_v2 AlphaFold Q9H6Q4 1-476 view protein structure

Promoters
RGD ID:6810946
Promoter ID:HG_ACW:28521
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:HAGHL.TAPR07,   NARFL.FAPR07,   NARFL.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3616721,119 - 721,619 (+)MPROMDB
RGD ID:6793303
Promoter ID:HG_KWN:22650
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:UC002CJP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616727,666 - 728,166 (-)MPROMDB
RGD ID:6793317
Promoter ID:HG_KWN:22651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000301694,   OTTHUMT00000242855,   UC002CJQ.1,   UC002CJS.1,   UC010BRC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616730,181 - 731,227 (-)MPROMDB
RGD ID:7230851
Promoter ID:EPDNEW_H21171
Type:initiation region
Name:NARFL_1
Description:nuclear prelamin A recognition factor like
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
GRCh3816740,997 - 741,057EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14179 AgrOrtholog
COSMIC CIAO3 COSMIC
Ensembl Genes ENSG00000103245 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000251588 ENTREZGENE
  ENST00000251588.7 UniProtKB/Swiss-Prot
  ENST00000540986 ENTREZGENE
  ENST00000540986.5 UniProtKB/Swiss-Prot
  ENST00000562421.5 UniProtKB/TrEMBL
  ENST00000565065.5 UniProtKB/TrEMBL
  ENST00000565425.5 UniProtKB/TrEMBL
  ENST00000566614.5 UniProtKB/TrEMBL
  ENST00000567403.5 UniProtKB/TrEMBL
  ENST00000568545.5 UniProtKB/Swiss-Prot
  ENST00000570066.1 UniProtKB/TrEMBL
  ENST00000570289.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103245 GTEx
HGNC ID HGNC:14179 ENTREZGENE
Human Proteome Map CIAO3 Human Proteome Map
InterPro Cytosolic_Fe-S_CAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe_hydrogenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe_hydrogenase_lsu_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe_hydrogenase_ssu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64428 UniProtKB/Swiss-Prot
NCBI Gene CIAO3 ENTREZGENE
OMIM 611118 OMIM
PANTHER CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NITRATE, FORMATE, IRON DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fe_hyd_lg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe_hyd_SSU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394707 PharmGKB
SMART Fe_hyd_SSU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L385 ENTREZGENE
  B3KPK9 ENTREZGENE, UniProtKB/TrEMBL
  B3KTJ3 ENTREZGENE
  B4DEE7_HUMAN UniProtKB/TrEMBL
  CIAO3_HUMAN UniProtKB/Swiss-Prot
  H3BPX8_HUMAN UniProtKB/TrEMBL
  H3BQ03_HUMAN UniProtKB/TrEMBL
  H3BSH2_HUMAN UniProtKB/TrEMBL
  H3BSJ7_HUMAN UniProtKB/TrEMBL
  H3BUF3_HUMAN UniProtKB/TrEMBL
  I3L2A3_HUMAN UniProtKB/TrEMBL
  Q53GC6 ENTREZGENE
  Q96S10 ENTREZGENE
  Q9H6J8 ENTREZGENE
  Q9H6Q4 ENTREZGENE
UniProt Secondary A1L385 UniProtKB/Swiss-Prot
  B3KTJ3 UniProtKB/Swiss-Prot
  Q53GC6 UniProtKB/Swiss-Prot
  Q96S10 UniProtKB/Swiss-Prot
  Q9H6J8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-22 CIAO3  cytosolic iron-sulfur assembly component 3  NARFL  nuclear prelamin A recognition factor like  Symbol and/or name change 5135510 APPROVED
2016-03-28 NARFL  nuclear prelamin A recognition factor like    nuclear prelamin A recognition factor-like  Symbol and/or name change 5135510 APPROVED