ADD3 (adducin 3) - Rat Genome Database

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Gene: ADD3 (adducin 3) Homo sapiens
Analyze
Symbol: ADD3
Name: adducin 3
RGD ID: 735411
HGNC Page HGNC:245
Description: Predicted to enable actin filament binding activity. Predicted to be involved in barbed-end actin filament capping. Located in plasma membrane. Implicated in spastic quadriplegic cerebral palsy 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADDL; adducin 3 (gamma); adducin 3, gamma; adducin-like protein 70; CPSQ3; gamma-adducin
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
GRCh3810109,996,373 - 110,135,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10109,996,368 - 110,135,565 (+)EnsemblGRCh38hg38GRCh38
GRCh3710111,756,131 - 111,895,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610111,755,716 - 111,885,313 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410111,755,793 - 111,885,313NCBI
Celera10105,497,404 - 105,626,995 (+)NCBICelera
Cytogenetic Map10q25.1-q25.2NCBI
HuRef10105,396,619 - 105,526,176 (+)NCBIHuRef
CHM1_110112,047,392 - 112,177,067 (+)NCBICHM1_1
T2T-CHM13v2.010110,880,187 - 111,019,428 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bexarotene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
irinotecan  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
malathion  (ISO)
menadione  (EXP)
Mesaconitine  (ISO)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
ozone  (EXP,ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
parathion  (ISO)
parathion-methyl  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP)
trichostatin A  (ISO)
triphenyl phosphate  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Microarray analysis of changes in renal phenotype in the ethylene glycol rat model of urolithiasis: potential and pitfalls. Chen DH, etal., BJU Int. 2004 Sep;94(4):637-50.
2. A Mutation in γ-Adducin Impairs Autoregulation of Renal Blood Flow and Promotes the Development of Kidney Disease. Fan F, etal., J Am Soc Nephrol. 2020 Apr;31(4):687-700. doi: 10.1681/ASN.2019080784. Epub 2020 Feb 6.
3. Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice. Gilligan DM, etal., Proc Natl Acad Sci U S A 1999 Sep 14;96(19):10717-22.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. NUP98 is fused to adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15). Lahortiga I, etal., Cancer Res 2003 Jun 15;63(12):3079-83.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2503523   PMID:8125298   PMID:8893809   PMID:10581174   PMID:11895774   PMID:12477932   PMID:15146197   PMID:15489334   PMID:15561718   PMID:15716695   PMID:15834281   PMID:15963851  
PMID:16344560   PMID:16385451   PMID:17081983   PMID:18475162   PMID:18667944   PMID:18787518   PMID:19913121   PMID:20379614   PMID:20460270   PMID:20628086   PMID:20810786   PMID:21164023  
PMID:21873635   PMID:23275563   PMID:23333304   PMID:23752268   PMID:23814265   PMID:23836506   PMID:23872602   PMID:24104524   PMID:24457600   PMID:25277244   PMID:25285724   PMID:25468996  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26949739   PMID:28033648   PMID:28298427   PMID:28514442   PMID:28902846   PMID:29508064   PMID:29568061  
PMID:29685956   PMID:29768408   PMID:30194290   PMID:30442766   PMID:30639242   PMID:30890647   PMID:31091453   PMID:31678930   PMID:31871319   PMID:31958485   PMID:32237935   PMID:32315284  
PMID:32513696   PMID:32707033   PMID:32807901   PMID:33172155   PMID:33196842   PMID:33239621   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34632867   PMID:34795231  
PMID:35063084   PMID:35198878   PMID:35256949   PMID:35271311   PMID:35337019   PMID:35439318   PMID:35509820   PMID:35831314   PMID:35833506   PMID:35844135   PMID:35914814   PMID:35944360  
PMID:36114006   PMID:36168627   PMID:36215168   PMID:36237976   PMID:36244648   PMID:36490346   PMID:36526897   PMID:36779422   PMID:36976175   PMID:37248361   PMID:37605290   PMID:37616343  
PMID:37827155   PMID:37834180   PMID:38117590   PMID:38280479   PMID:38891874  


Genomics

Comparative Map Data
ADD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810109,996,373 - 110,135,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10109,996,368 - 110,135,565 (+)EnsemblGRCh38hg38GRCh38
GRCh3710111,756,131 - 111,895,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610111,755,716 - 111,885,313 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410111,755,793 - 111,885,313NCBI
Celera10105,497,404 - 105,626,995 (+)NCBICelera
Cytogenetic Map10q25.1-q25.2NCBI
HuRef10105,396,619 - 105,526,176 (+)NCBIHuRef
CHM1_110112,047,392 - 112,177,067 (+)NCBICHM1_1
T2T-CHM13v2.010110,880,187 - 111,019,428 (+)NCBIT2T-CHM13v2.0
Add3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391953,128,874 - 53,235,518 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1953,128,874 - 53,235,830 (+)EnsemblGRCm39 Ensembl
GRCm381953,140,443 - 53,247,326 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1953,140,443 - 53,247,399 (+)EnsemblGRCm38mm10GRCm38
MGSCv371953,214,935 - 53,321,889 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361953,256,726 - 53,300,399 (+)NCBIMGSCv36mm8
Celera1955,321,358 - 55,428,774 (+)NCBICelera
Cytogenetic Map19D2NCBI
cM Map1947.18NCBI
Add3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81262,152,722 - 262,260,504 (+)NCBIGRCr8
mRatBN7.21252,147,341 - 252,255,126 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1252,147,386 - 252,255,124 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1260,336,161 - 260,443,763 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01267,042,224 - 267,149,829 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01259,697,436 - 259,805,286 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01273,854,195 - 273,961,982 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1273,854,248 - 273,961,982 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01281,267,424 - 281,375,203 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41259,347,673 - 259,455,407 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11259,560,471 - 259,923,891 (-)NCBI
Celera1247,872,140 - 247,979,623 (+)NCBICelera
Cytogenetic Map1q55NCBI
Add3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554851,216,435 - 1,353,953 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554851,216,435 - 1,273,275 (-)NCBIChiLan1.0ChiLan1.0
ADD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28121,884,928 - 122,014,764 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110121,890,333 - 122,020,100 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010106,597,693 - 106,727,494 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110110,048,680 - 110,178,671 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10110,123,270 - 110,178,671 (+)Ensemblpanpan1.1panPan2
ADD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12821,402,068 - 21,527,006 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2821,403,680 - 21,525,063 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2821,545,130 - 21,669,800 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02821,916,580 - 22,041,306 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2821,875,987 - 22,041,302 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12821,477,401 - 21,602,290 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02821,481,987 - 21,606,180 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02821,617,201 - 21,742,113 (+)NCBIUU_Cfam_GSD_1.0
Add3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721324,519,105 - 24,632,420 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936486928,522 - 1,043,084 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936486928,956 - 1,042,168 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14120,451,575 - 120,583,722 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114120,451,421 - 120,583,725 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214131,288,509 - 131,420,807 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19102,930,270 - 103,056,558 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9103,010,713 - 103,057,101 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604864,133,099 - 64,259,617 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Add3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473736,091,671 - 36,256,398 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADD3
178 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1 copy number loss See cases [RCV000052570] Chr10:107191100..118761489 [GRCh38]
Chr10:108950858..120521001 [GRCh37]
Chr10:108940848..120510991 [NCBI36]
Chr10:10q25.1-26.11		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
NM_001121.2(ADD3):c.1995G>A (p.Lys665=) single nucleotide variant Malignant melanoma [RCV000061993] Chr10:110133588 [GRCh38]
Chr10:111893346 [GRCh37]
Chr10:111883336 [NCBI36]
Chr10:10q25.2		 not provided
NM_001121.2(ADD3):c.1998C>A (p.Asn666Lys) single nucleotide variant Malignant melanoma [RCV000061994] Chr10:110133591 [GRCh38]
Chr10:111893349 [GRCh37]
Chr10:111883339 [NCBI36]
Chr10:10q25.2		 not provided
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q25.1-25.2(chr10:109544286-110311875)x3 copy number gain See cases [RCV000135417] Chr10:109544286..110311875 [GRCh38]
Chr10:111304044..112071633 [GRCh37]
Chr10:111294034..112061623 [NCBI36]
Chr10:10q25.1-25.2		 uncertain significance
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 copy number loss See cases [RCV000143371] Chr10:102732173..114085105 [GRCh38]
Chr10:104491930..115844864 [GRCh37]
Chr10:104481920..115834854 [NCBI36]
Chr10:10q24.32-25.3		 pathogenic
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) single nucleotide variant Cerebral palsy [RCV000234930]|Cerebral palsy, spastic quadriplegic, 3 [RCV000231295] Chr10:110122249 [GRCh38]
Chr10:111882007 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
NM_016824.5(ADD3):c.2101_2103del (p.Lys701del) deletion not provided [RCV000428169] Chr10:110133598..110133600 [GRCh38]
Chr10:111893356..111893358 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.304T>C (p.Ser102Pro) single nucleotide variant not provided [RCV000431423] Chr10:110112885 [GRCh38]
Chr10:111872643 [GRCh37]
Chr10:10q25.2		 benign|likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
NM_016824.5(ADD3):c.2119TAAA[1] (p.Ter707=) microsatellite not provided [RCV000514349] Chr10:110133616..110133619 [GRCh38]
Chr10:111893374..111893377 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_016824.5(ADD3):c.1905G>C (p.Met635Ile) single nucleotide variant not provided [RCV000969595] Chr10:110133402 [GRCh38]
Chr10:111893160 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.1596T>A (p.Asp532Glu) single nucleotide variant not provided [RCV000950436] Chr10:110126491 [GRCh38]
Chr10:111886249 [GRCh37]
Chr10:10q25.2		 benign|conflicting interpretations of pathogenicity
NM_016824.5(ADD3):c.1401+8A>G single nucleotide variant not provided [RCV000922987] Chr10:110124282 [GRCh38]
Chr10:111884040 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1878C>T (p.Val626=) single nucleotide variant not provided [RCV000900766] Chr10:110133375 [GRCh38]
Chr10:111893133 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1386C>T (p.Pro462=) single nucleotide variant not provided [RCV000982543] Chr10:110124259 [GRCh38]
Chr10:111884017 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.303T>C (p.Asn101=) single nucleotide variant not provided [RCV000915394] Chr10:110112884 [GRCh38]
Chr10:111872642 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1060G>C (p.Gly354Arg) single nucleotide variant not provided [RCV000915481] Chr10:110122209 [GRCh38]
Chr10:111881967 [GRCh37]
Chr10:10q25.2		 likely benign
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_016824.5(ADD3):c.1419C>T (p.Asp473=) single nucleotide variant not provided [RCV000921106] Chr10:110125843 [GRCh38]
Chr10:111885601 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1803G>A (p.Pro601=) single nucleotide variant not provided [RCV000978371] Chr10:110132375 [GRCh38]
Chr10:111892133 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1707C>T (p.Ile569=) single nucleotide variant not provided [RCV000924758] Chr10:110130461 [GRCh38]
Chr10:111890219 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.725C>T (p.Ser242Phe) single nucleotide variant not provided [RCV000994499] Chr10:110119218 [GRCh38]
Chr10:111878976 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1848C>T (p.Ser616=) single nucleotide variant ADD3-related disorder [RCV003950808]|not provided [RCV000914647] Chr10:110133345 [GRCh38]
Chr10:111893103 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1639C>T (p.Pro547Ser) single nucleotide variant ADD3-related disorder [RCV003975514]|not provided [RCV000880280] Chr10:110130393 [GRCh38]
Chr10:111890151 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1842G>A (p.Leu614=) single nucleotide variant not provided [RCV000938580] Chr10:110133339 [GRCh38]
Chr10:111893097 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1828+6C>T single nucleotide variant not provided [RCV000912044] Chr10:110132406 [GRCh38]
Chr10:111892164 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1736C>G (p.Ala579Gly) single nucleotide variant not provided [RCV000956863] Chr10:110132308 [GRCh38]
Chr10:111892066 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.489A>G (p.Val163=) single nucleotide variant not provided [RCV000890002] Chr10:110117344 [GRCh38]
Chr10:111877102 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_016824.5(ADD3):c.2118C>A (p.Ala706=) single nucleotide variant not provided [RCV000911308] Chr10:110133615 [GRCh38]
Chr10:111893373 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.147C>T (p.Phe49=) single nucleotide variant not provided [RCV000912468] Chr10:110100800 [GRCh38]
Chr10:111860558 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.313G>A (p.Gly105Ser) single nucleotide variant not provided [RCV001263332] Chr10:110112894 [GRCh38]
Chr10:111872652 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1607C>T (p.Ser536Phe) single nucleotide variant Microcephaly [RCV001252887] Chr10:110126502 [GRCh38]
Chr10:111886260 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg) single nucleotide variant Cerebral palsy, spastic quadriplegic, 3 [RCV001328969]|not specified [RCV004035658] Chr10:110124245 [GRCh38]
Chr10:111884003 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 3 [RCV001328970]|not provided [RCV001863195] Chr10:110122144 [GRCh38]
Chr10:111881902 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.717+16T>G single nucleotide variant not provided [RCV001511589] Chr10:110118752 [GRCh38]
Chr10:111878510 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.1521+15_1521+17del microsatellite not provided [RCV001519047] Chr10:110125957..110125959 [GRCh38]
Chr10:111885715..111885717 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.608G>A (p.Ser203Asn) single nucleotide variant not provided [RCV001889328] Chr10:110118627 [GRCh38]
Chr10:111878385 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.311C>T (p.Ser104Leu) single nucleotide variant not provided [RCV001914629]|not specified [RCV004041133] Chr10:110112892 [GRCh38]
Chr10:111872650 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.8C>T (p.Ser3Leu) single nucleotide variant not provided [RCV001896760]|not specified [RCV004041764] Chr10:110100661 [GRCh38]
Chr10:111860419 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.25G>A (p.Val9Met) single nucleotide variant not provided [RCV001971226] Chr10:110100678 [GRCh38]
Chr10:111860436 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1262C>T (p.Pro421Leu) single nucleotide variant not provided [RCV001864184] Chr10:110124135 [GRCh38]
Chr10:111883893 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.419A>T (p.Lys140Ile) single nucleotide variant not provided [RCV001968076] Chr10:110116343 [GRCh38]
Chr10:111876101 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1024A>G (p.Lys342Glu) single nucleotide variant not provided [RCV001895843]|not specified [RCV004041317] Chr10:110122173 [GRCh38]
Chr10:111881931 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1241C>T (p.Ser414Phe) single nucleotide variant not provided [RCV001967582] Chr10:110124114 [GRCh38]
Chr10:111883872 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1975G>A (p.Glu659Lys) single nucleotide variant not provided [RCV001909443] Chr10:110133472 [GRCh38]
Chr10:111893230 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1712G>A (p.Arg571His) single nucleotide variant not provided [RCV001893682]|not specified [RCV004611966] Chr10:110130466 [GRCh38]
Chr10:111890224 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_111860412)_(112404423_?)dup duplication not provided [RCV002004916] Chr10:111860412..112404423 [GRCh37]
Chr10:10q25.1-25.2		 uncertain significance
NM_016824.5(ADD3):c.1219C>G (p.Pro407Ala) single nucleotide variant not provided [RCV001894661] Chr10:110124092 [GRCh38]
Chr10:111883850 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1 copy number loss not provided [RCV001827678] Chr10:107092654..117852548 [GRCh37]
Chr10:10q25.1-25.3		 uncertain significance
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) copy number loss not specified [RCV002052885] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
NM_016824.5(ADD3):c.635G>A (p.Gly212Glu) single nucleotide variant not provided [RCV001908516] Chr10:110118654 [GRCh38]
Chr10:111878412 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_016824.5(ADD3):c.86A>G (p.Asn29Ser) single nucleotide variant not provided [RCV001867145] Chr10:110100739 [GRCh38]
Chr10:111860497 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.79C>T (p.Arg27Cys) single nucleotide variant not provided [RCV001944769]|not specified [RCV004040361] Chr10:110100732 [GRCh38]
Chr10:111860490 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.340G>T (p.Gly114Cys) single nucleotide variant not provided [RCV001997459]|not specified [RCV004043912] Chr10:110116264 [GRCh38]
Chr10:111876022 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.776A>G (p.Asp259Gly) single nucleotide variant not provided [RCV002009779]|not specified [RCV004042394] Chr10:110119269 [GRCh38]
Chr10:111879027 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.245G>A (p.Gly82Asp) single nucleotide variant not provided [RCV002049251]|not specified [RCV004038902] Chr10:110112826 [GRCh38]
Chr10:111872584 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1828+4C>T single nucleotide variant not provided [RCV001882931] Chr10:110132404 [GRCh38]
Chr10:111892162 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1216A>G (p.Ile406Val) single nucleotide variant not provided [RCV001922520]|not specified [RCV004611964] Chr10:110124089 [GRCh38]
Chr10:111883847 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1001A>G (p.His334Arg) single nucleotide variant not provided [RCV001974255] Chr10:110122150 [GRCh38]
Chr10:111881908 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1493C>T (p.Pro498Leu) single nucleotide variant not provided [RCV001937215] Chr10:110125917 [GRCh38]
Chr10:111885675 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1975G>C (p.Glu659Gln) single nucleotide variant not provided [RCV001922809] Chr10:110133472 [GRCh38]
Chr10:111893230 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.191G>T (p.Ser64Ile) single nucleotide variant not provided [RCV001886319] Chr10:110100844 [GRCh38]
Chr10:111860602 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.413G>T (p.Arg138Leu) single nucleotide variant not provided [RCV002035734] Chr10:110116337 [GRCh38]
Chr10:111876095 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.500A>G (p.Lys167Arg) single nucleotide variant not provided [RCV001897196] Chr10:110117355 [GRCh38]
Chr10:111877113 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.410C>T (p.Thr137Ile) single nucleotide variant not provided [RCV001989199]|not specified [RCV004045362] Chr10:110116334 [GRCh38]
Chr10:111876092 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.637T>G (p.Phe213Val) single nucleotide variant not provided [RCV001996779] Chr10:110118656 [GRCh38]
Chr10:111878414 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1050G>A (p.Ala350=) single nucleotide variant not provided [RCV001993309] Chr10:110122199 [GRCh38]
Chr10:111881957 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.664A>G (p.Thr222Ala) single nucleotide variant not provided [RCV001905101] Chr10:110118683 [GRCh38]
Chr10:111878441 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2010A>C (p.Glu670Asp) single nucleotide variant not provided [RCV001899722] Chr10:110133507 [GRCh38]
Chr10:111893265 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1804C>A (p.Gln602Lys) single nucleotide variant not provided [RCV002018628] Chr10:110132376 [GRCh38]
Chr10:111892134 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.22G>A (p.Gly8Ser) single nucleotide variant not provided [RCV002018042] Chr10:110100675 [GRCh38]
Chr10:111860433 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1934G>A (p.Arg645Gln) single nucleotide variant not provided [RCV002009671]|not specified [RCV004046238] Chr10:110133431 [GRCh38]
Chr10:111893189 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.282T>G (p.Ile94Met) single nucleotide variant not provided [RCV001920016] Chr10:110112863 [GRCh38]
Chr10:111872621 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1144-17G>T single nucleotide variant not provided [RCV002148683] Chr10:110124000 [GRCh38]
Chr10:111883758 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.162G>A (p.Gln54=) single nucleotide variant not provided [RCV002169050] Chr10:110100815 [GRCh38]
Chr10:111860573 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.24C>T (p.Gly8=) single nucleotide variant not provided [RCV002111688] Chr10:110100677 [GRCh38]
Chr10:111860435 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.294C>T (p.Ile98=) single nucleotide variant not provided [RCV002125201] Chr10:110112875 [GRCh38]
Chr10:111872633 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.537A>G (p.Leu179=) single nucleotide variant not provided [RCV002188848] Chr10:110117392 [GRCh38]
Chr10:111877150 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1829-17A>C single nucleotide variant not provided [RCV002124363] Chr10:110133309 [GRCh38]
Chr10:111893067 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1762G>A (p.Ala588Thr) single nucleotide variant not provided [RCV002094931] Chr10:110132334 [GRCh38]
Chr10:111892092 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1771G>T (p.Val591Phe) single nucleotide variant not provided [RCV002133861] Chr10:110132343 [GRCh38]
Chr10:111892101 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.487-5dup duplication not provided [RCV002193719] Chr10:110117328..110117329 [GRCh38]
Chr10:111877086..111877087 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.1332T>C (p.Asn444=) single nucleotide variant not provided [RCV002093183] Chr10:110124205 [GRCh38]
Chr10:111883963 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.672T>G (p.Pro224=) single nucleotide variant not provided [RCV002165076] Chr10:110118691 [GRCh38]
Chr10:111878449 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.960+18C>G single nucleotide variant not provided [RCV002207006] Chr10:110119582 [GRCh38]
Chr10:111879340 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1257A>G (p.Thr419=) single nucleotide variant not provided [RCV002081102] Chr10:110124130 [GRCh38]
Chr10:111883888 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.633A>G (p.Thr211=) single nucleotide variant not provided [RCV002186264] Chr10:110118652 [GRCh38]
Chr10:111878410 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1829-5C>T single nucleotide variant not provided [RCV002193061] Chr10:110133321 [GRCh38]
Chr10:111893079 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.609T>C (p.Ser203=) single nucleotide variant not provided [RCV002173051] Chr10:110118628 [GRCh38]
Chr10:111878386 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1828+8A>G single nucleotide variant not provided [RCV002151805] Chr10:110132408 [GRCh38]
Chr10:111892166 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.453T>C (p.Phe151=) single nucleotide variant not provided [RCV002134623] Chr10:110116377 [GRCh38]
Chr10:111876135 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1449C>A (p.Ile483=) single nucleotide variant not provided [RCV002172028] Chr10:110125873 [GRCh38]
Chr10:111885631 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1733-12del deletion not provided [RCV002123926] Chr10:110132293 [GRCh38]
Chr10:111892051 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.747A>C (p.Pro249=) single nucleotide variant not provided [RCV002159473] Chr10:110119240 [GRCh38]
Chr10:111878998 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.487-11T>G single nucleotide variant not provided [RCV002138857] Chr10:110117331 [GRCh38]
Chr10:111877089 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1023T>C (p.Tyr341=) single nucleotide variant not provided [RCV002156292] Chr10:110122172 [GRCh38]
Chr10:111881930 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1392C>T (p.Thr464=) single nucleotide variant not provided [RCV002154785] Chr10:110124265 [GRCh38]
Chr10:111884023 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.196-17A>G single nucleotide variant not provided [RCV002140162] Chr10:110112760 [GRCh38]
Chr10:111872518 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.468G>A (p.Leu156=) single nucleotide variant not provided [RCV002201038] Chr10:110116392 [GRCh38]
Chr10:111876150 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.213G>A (p.Leu71=) single nucleotide variant not provided [RCV002202844] Chr10:110112794 [GRCh38]
Chr10:111872552 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.121A>G (p.Met41Val) single nucleotide variant not provided [RCV003110549] Chr10:110100774 [GRCh38]
Chr10:111860532 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1906C>T (p.His636Tyr) single nucleotide variant not provided [RCV003110560]|not specified [RCV004614396] Chr10:110133403 [GRCh38]
Chr10:111893161 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1733-1G>A single nucleotide variant not provided [RCV003110268]|not specified [RCV003388168] Chr10:110132304 [GRCh38]
Chr10:111892062 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_111860412)_(112839579_?)dup duplication Cornelia de Lange syndrome 3 [RCV003116369] Chr10:111860412..112839579 [GRCh37]
Chr10:10q25.1-25.2		 uncertain significance
NM_016824.5(ADD3):c.655A>G (p.Ile219Val) single nucleotide variant not provided [RCV003121816] Chr10:110118674 [GRCh38]
Chr10:111878432 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1300C>T (p.Arg434Cys) single nucleotide variant not provided [RCV003118556] Chr10:110124173 [GRCh38]
Chr10:111883931 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2014C>G (p.Leu672Val) single nucleotide variant not specified [RCV004305779] Chr10:110133511 [GRCh38]
Chr10:111893269 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2071A>G (p.Thr691Ala) single nucleotide variant not provided [RCV002297067] Chr10:110133568 [GRCh38]
Chr10:111893326 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1741C>G (p.Gln581Glu) single nucleotide variant not provided [RCV003149406] Chr10:110132313 [GRCh38]
Chr10:111892071 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.312G>A (p.Ser104=) single nucleotide variant not provided [RCV002968021] Chr10:110112893 [GRCh38]
Chr10:111872651 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.331C>T (p.Leu111Phe) single nucleotide variant not provided [RCV002301317] Chr10:110112912 [GRCh38]
Chr10:111872670 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2067C>G (p.Phe689Leu) single nucleotide variant not provided [RCV002299333] Chr10:110133564 [GRCh38]
Chr10:111893322 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.553A>G (p.Thr185Ala) single nucleotide variant not provided [RCV002296792] Chr10:110117408 [GRCh38]
Chr10:111877166 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2026G>A (p.Gly676Ser) single nucleotide variant not provided [RCV002771572] Chr10:110133523 [GRCh38]
Chr10:111893281 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1615C>T (p.Gln539Ter) single nucleotide variant not provided [RCV002863559] Chr10:110130369 [GRCh38]
Chr10:111890127 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1703C>T (p.Thr568Ile) single nucleotide variant not specified [RCV004222071] Chr10:110130457 [GRCh38]
Chr10:111890215 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.195+18G>A single nucleotide variant not provided [RCV003012194] Chr10:110100866 [GRCh38]
Chr10:111860624 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.718-3T>C single nucleotide variant not provided [RCV002908260] Chr10:110119208 [GRCh38]
Chr10:111878966 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1426A>G (p.Lys476Glu) single nucleotide variant not provided [RCV003016198] Chr10:110125850 [GRCh38]
Chr10:111885608 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1993C>T (p.Pro665Ser) single nucleotide variant not provided [RCV002681589] Chr10:110133490 [GRCh38]
Chr10:111893248 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1690G>A (p.Glu564Lys) single nucleotide variant not provided [RCV002881846] Chr10:110130444 [GRCh38]
Chr10:111890202 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1162G>C (p.Ala388Pro) single nucleotide variant not provided [RCV002756449] Chr10:110124035 [GRCh38]
Chr10:111883793 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.207A>G (p.Glu69=) single nucleotide variant not provided [RCV002971538] Chr10:110112788 [GRCh38]
Chr10:111872546 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1724G>A (p.Gly575Asp) single nucleotide variant not provided [RCV002613544] Chr10:110130478 [GRCh38]
Chr10:111890236 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.21A>C (p.Gln7His) single nucleotide variant not provided [RCV002993948] Chr10:110100674 [GRCh38]
Chr10:111860432 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1309A>G (p.Thr437Ala) single nucleotide variant not provided [RCV002825216] Chr10:110124182 [GRCh38]
Chr10:111883940 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1225A>C (p.Thr409Pro) single nucleotide variant not provided [RCV003000096] Chr10:110124098 [GRCh38]
Chr10:111883856 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1401G>A (p.Thr467=) single nucleotide variant not provided [RCV002999500] Chr10:110124274 [GRCh38]
Chr10:111884032 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1907A>C (p.His636Pro) single nucleotide variant not provided [RCV002691042] Chr10:110133404 [GRCh38]
Chr10:111893162 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1760A>G (p.Asp587Gly) single nucleotide variant not provided [RCV002620406] Chr10:110132332 [GRCh38]
Chr10:111892090 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1634A>G (p.His545Arg) single nucleotide variant not specified [RCV004090080] Chr10:110130388 [GRCh38]
Chr10:111890146 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.335-11del deletion not provided [RCV002695698] Chr10:110116243 [GRCh38]
Chr10:111876001 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.572A>C (p.Lys191Thr) single nucleotide variant not provided [RCV003002320] Chr10:110118591 [GRCh38]
Chr10:111878349 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.406C>T (p.Leu136Phe) single nucleotide variant not provided [RCV002780660]|not specified [RCV004612251] Chr10:110116330 [GRCh38]
Chr10:111876088 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1542T>C (p.Tyr514=) single nucleotide variant not provided [RCV002645753] Chr10:110126437 [GRCh38]
Chr10:111886195 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.70T>G (p.Tyr24Asp) single nucleotide variant not specified [RCV004077103] Chr10:110100723 [GRCh38]
Chr10:111860481 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2068C>T (p.Arg690Cys) single nucleotide variant not provided [RCV003040335] Chr10:110133565 [GRCh38]
Chr10:111893323 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.514A>T (p.Ile172Phe) single nucleotide variant not provided [RCV002982286] Chr10:110117369 [GRCh38]
Chr10:111877127 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.961-13C>A single nucleotide variant not provided [RCV002625730] Chr10:110122097 [GRCh38]
Chr10:111881855 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.854G>A (p.Ser285Asn) single nucleotide variant not provided [RCV002811160] Chr10:110119347 [GRCh38]
Chr10:111879105 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.791A>T (p.Asp264Val) single nucleotide variant not provided [RCV002962133] Chr10:110119284 [GRCh38]
Chr10:111879042 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.377A>G (p.Asp126Gly) single nucleotide variant not provided [RCV002646023] Chr10:110116301 [GRCh38]
Chr10:111876059 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.189A>C (p.Gln63His) single nucleotide variant not provided [RCV002578222]|not specified [RCV004064531] Chr10:110100842 [GRCh38]
Chr10:111860600 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.914A>G (p.Glu305Gly) single nucleotide variant not specified [RCV004176351] Chr10:110119518 [GRCh38]
Chr10:111879276 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1929T>C (p.Ala643=) single nucleotide variant not provided [RCV002597757] Chr10:110133426 [GRCh38]
Chr10:111893184 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.592G>A (p.Val198Met) single nucleotide variant not provided [RCV003063827] Chr10:110118611 [GRCh38]
Chr10:111878369 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1829-4G>A single nucleotide variant ADD3-related disorder [RCV003916638]|not provided [RCV002938509] Chr10:110133322 [GRCh38]
Chr10:111893080 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.416G>C (p.Cys139Ser) single nucleotide variant not provided [RCV002806389] Chr10:110116340 [GRCh38]
Chr10:111876098 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.781G>T (p.Ala261Ser) single nucleotide variant not specified [RCV004215800] Chr10:110119274 [GRCh38]
Chr10:111879032 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.934A>G (p.Asn312Asp) single nucleotide variant not provided [RCV002654259]|not specified [RCV004612229] Chr10:110119538 [GRCh38]
Chr10:111879296 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1064G>T (p.Gly355Val) single nucleotide variant not provided [RCV002584501] Chr10:110122213 [GRCh38]
Chr10:111881971 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2004C>A (p.Ile668=) single nucleotide variant not provided [RCV002607402] Chr10:110133501 [GRCh38]
Chr10:111893259 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.1160A>G (p.Tyr387Cys) single nucleotide variant not specified [RCV004258401] Chr10:110124033 [GRCh38]
Chr10:111883791 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1130C>T (p.Thr377Ile) single nucleotide variant not provided [RCV003218993] Chr10:110122279 [GRCh38]
Chr10:111882037 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1049C>T (p.Ala350Val) single nucleotide variant not specified [RCV004260821] Chr10:110122198 [GRCh38]
Chr10:111881956 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1700G>C (p.Arg567Thr) single nucleotide variant not specified [RCV004278506] Chr10:110130454 [GRCh38]
Chr10:111890212 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1142T>C (p.Leu381Ser) single nucleotide variant not provided [RCV003214148] Chr10:110122291 [GRCh38]
Chr10:111882049 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.170G>A (p.Arg57Gln) single nucleotide variant not specified [RCV004282851] Chr10:110100823 [GRCh38]
Chr10:111860581 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_016824.5(ADD3):c.416G>A (p.Cys139Tyr) single nucleotide variant not specified [RCV004326008] Chr10:110116340 [GRCh38]
Chr10:111876098 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_016824.5(ADD3):c.17G>T (p.Ser6Ile) single nucleotide variant not specified [RCV004352107] Chr10:110100670 [GRCh38]
Chr10:111860428 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.379A>G (p.Thr127Ala) single nucleotide variant not specified [RCV004341003] Chr10:110116303 [GRCh38]
Chr10:111876061 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_016824.5(ADD3):c.15C>T (p.Ala5=) single nucleotide variant not provided [RCV003874059] Chr10:110100668 [GRCh38]
Chr10:111860426 [GRCh37]
Chr10:10q25.2		 likely benign
NC_000010.11:g.110151580C>T single nucleotide variant not provided [RCV003422870] Chr10:110151580 [GRCh38]
Chr10:111911338 [GRCh37]
Chr10:10q25.2		 benign
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_016824.5(ADD3):c.533G>A (p.Gly178Asp) single nucleotide variant not provided [RCV003441189] Chr10:110117388 [GRCh38]
Chr10:111877146 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1588G>A (p.Val530Ile) single nucleotide variant not provided [RCV003548198] Chr10:110126483 [GRCh38]
Chr10:111886241 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1609-14T>G single nucleotide variant not provided [RCV003830580] Chr10:110130349 [GRCh38]
Chr10:111890107 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1884A>G (p.Val628=) single nucleotide variant not provided [RCV003661159] Chr10:110133381 [GRCh38]
Chr10:111893139 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.961-7A>T single nucleotide variant not provided [RCV003687663] Chr10:110122103 [GRCh38]
Chr10:111881861 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1974C>T (p.Ile658=) single nucleotide variant ADD3-related disorder [RCV003956626]|not provided [RCV003876409] Chr10:110133471 [GRCh38]
Chr10:111893229 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.2004C>T (p.Ile668=) single nucleotide variant not provided [RCV003544003] Chr10:110133501 [GRCh38]
Chr10:111893259 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1401+17T>C single nucleotide variant not provided [RCV003549558] Chr10:110124291 [GRCh38]
Chr10:111884049 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.487-14G>A single nucleotide variant not provided [RCV003666277] Chr10:110117328 [GRCh38]
Chr10:111877086 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1608+14G>C single nucleotide variant not provided [RCV003817494] Chr10:110126517 [GRCh38]
Chr10:111886275 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1761C>T (p.Asp587=) single nucleotide variant not provided [RCV003836801] Chr10:110132333 [GRCh38]
Chr10:111892091 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.1869_1870inv (p.Glu623_Val624delinsAspLeu) inversion not provided [RCV003725086] Chr10:110133366..110133367 [GRCh38]
Chr10:111893124..111893125 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.132T>C (p.Asp44=) single nucleotide variant not provided [RCV003707439] Chr10:110100785 [GRCh38]
Chr10:111860543 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.508G>T (p.Asp170Tyr) single nucleotide variant not provided [RCV003721024] Chr10:110117363 [GRCh38]
Chr10:111877121 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.256A>G (p.Thr86Ala) single nucleotide variant not provided [RCV003859630]|not specified [RCV004369501] Chr10:110112837 [GRCh38]
Chr10:111872595 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1078T>G (p.Ser360Ala) single nucleotide variant not provided [RCV003720035] Chr10:110122227 [GRCh38]
Chr10:111881985 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1809T>C (p.Asn603=) single nucleotide variant not provided [RCV003720337] Chr10:110132381 [GRCh38]
Chr10:111892139 [GRCh37]
Chr10:10q25.2		 likely benign
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13		 likely pathogenic
NM_016824.5(ADD3):c.1829-6T>C single nucleotide variant not provided [RCV003820970] Chr10:110133320 [GRCh38]
Chr10:111893078 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.42T>G (p.Pro14=) single nucleotide variant not provided [RCV003685357] Chr10:110100695 [GRCh38]
Chr10:111860453 [GRCh37]
Chr10:10q25.2		 likely benign
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_016824.5(ADD3):c.1560A>G (p.Gly520=) single nucleotide variant ADD3-related disorder [RCV003957277] Chr10:110126455 [GRCh38]
Chr10:111886213 [GRCh37]
Chr10:10q25.2		 likely benign
NM_016824.5(ADD3):c.851C>G (p.Pro284Arg) single nucleotide variant not specified [RCV004376244] Chr10:110119344 [GRCh38]
Chr10:111879102 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1763C>G (p.Ala588Gly) single nucleotide variant not specified [RCV004376186] Chr10:110132335 [GRCh38]
Chr10:111892093 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.719T>C (p.Val240Ala) single nucleotide variant not specified [RCV004376229] Chr10:110119212 [GRCh38]
Chr10:111878970 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1175C>G (p.Pro392Arg) single nucleotide variant not specified [RCV004376164] Chr10:110124048 [GRCh38]
Chr10:111883806 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.776A>T (p.Asp259Val) single nucleotide variant not specified [RCV004376235] Chr10:110119269 [GRCh38]
Chr10:111879027 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.2001A>C (p.Lys667Asn) single nucleotide variant not specified [RCV004376200] Chr10:110133498 [GRCh38]
Chr10:111893256 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.640A>G (p.Ser214Gly) single nucleotide variant not specified [RCV004376222] Chr10:110118659 [GRCh38]
Chr10:111878417 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1421C>T (p.Ser474Leu) single nucleotide variant not provided [RCV004592096] Chr10:110125845 [GRCh38]
Chr10:111885603 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.505C>A (p.Gln169Lys) single nucleotide variant not specified [RCV004615833] Chr10:110117360 [GRCh38]
Chr10:111877118 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.133C>A (p.Leu45Ile) single nucleotide variant Cerebral palsy, spastic quadriplegic, 3 [RCV004698715] Chr10:110100786 [GRCh38]
Chr10:111860544 [GRCh37]
Chr10:10q25.2		 benign
NM_016824.5(ADD3):c.688A>C (p.Ile230Leu) single nucleotide variant not specified [RCV004615785] Chr10:110118707 [GRCh38]
Chr10:111878465 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.482T>C (p.Ile161Thr) single nucleotide variant not specified [RCV004615796] Chr10:110116406 [GRCh38]
Chr10:111876164 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.253C>A (p.Pro85Thr) single nucleotide variant not provided [RCV004725761] Chr10:110112834 [GRCh38]
Chr10:111872592 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.268G>A (p.Ala90Thr) single nucleotide variant not specified [RCV004615825] Chr10:110112849 [GRCh38]
Chr10:111872607 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_016824.5(ADD3):c.1802C>T (p.Pro601Leu) single nucleotide variant not provided [RCV002595261] Chr10:110132374 [GRCh38]
Chr10:111892132 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_016824.5(ADD3):c.1750C>G (p.Leu584Val) single nucleotide variant not specified [RCV004347481] Chr10:110132322 [GRCh38]
Chr10:111892080 [GRCh37]
Chr10:10q25.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3191
Count of miRNA genes:1033
Interacting mature miRNAs:1266
Transcripts:ENST00000277900, ENST00000356080, ENST00000360162, ENST00000459738, ENST00000468251, ENST00000468345, ENST00000472568, ENST00000473669, ENST00000475954, ENST00000479805, ENST00000484622, ENST00000486014, ENST00000487085, ENST00000488104, ENST00000488799, ENST00000488837, ENST00000492162, ENST00000495661, ENST00000496517, ENST00000497125
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
406989794GWAS638770_Hadolescent idiopathic scoliosis QTL GWAS638770 (human)5e-29adolescent idiopathic scoliosis10110090745110090746Human
406930144GWAS579120_Hcutaneous melanoma, hair color QTL GWAS579120 (human)3e-11cutaneous melanoma, hair color10110130021110130022Human
406907364GWAS556340_Hbipolar disorder QTL GWAS556340 (human)3e-08bipolar disorder10110015049110015050Human
406947012GWAS595988_Hheparan sulfate glucosamine 3-O-sulfotransferase 3A1 measurement QTL GWAS595988 (human)4e-67heparan sulfate glucosamine 3-O-sulfotransferase 3A1 measurement10110080967110080968Human
406934886GWAS583862_Heducational attainment QTL GWAS583862 (human)6e-17educational attainment10110001593110001594Human
407387808GWAS1036784_Hbiliary atresia QTL GWAS1036784 (human)6e-09biliary atresia10109998033109998034Human
407293679GWAS942655_Hbody height QTL GWAS942655 (human)2e-09body height (VT:0001253)body height (CMO:0000106)10110027958110027959Human
407120815GWAS769791_Hhair colour measurement QTL GWAS769791 (human)3e-08hair colour measurementcoat/hair color measurement (CMO:0001808)10110112417110112418Human
407118504GWAS767480_Hsmoking status measurement QTL GWAS767480 (human)1e-09smoking status measurement10110095681110095682Human
407113525GWAS762501_Hself reported educational attainment QTL GWAS762501 (human)9e-14self reported educational attainment10110010255110010256Human
407010963GWAS659939_HAbnormality of refraction QTL GWAS659939 (human)2e-14Abnormality of refraction10110095681110095682Human
406931187GWAS580163_Hcutaneous melanoma QTL GWAS580163 (human)0.000003cutaneous melanoma10110130021110130022Human
407004433GWAS653409_Hself reported educational attainment QTL GWAS653409 (human)8e-10self reported educational attainment10110075933110075934Human
407386384GWAS1035360_Heosinophil count QTL GWAS1035360 (human)2e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)10110005028110005029Human
407170621GWAS819597_Hbreast carcinoma QTL GWAS819597 (human)0.000004breast carcinoma10110044796110044797Human
406969144GWAS618120_Hlaminin subunit alpha-4 measurement QTL GWAS618120 (human)3e-18laminin subunit alpha-4 measurement10110080967110080968Human
407036504GWAS685480_Hself reported educational attainment QTL GWAS685480 (human)1e-13self reported educational attainment10110010255110010256Human
407179192GWAS828168_HFEV/FVC ratio QTL GWAS828168 (human)7e-10FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)10110013665110013666Human

Markers in Region
D10S543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,839,136 - 111,839,278UniSTSGRCh37
GRCh3710111,839,017 - 111,839,125UniSTSGRCh37
Build 3610111,829,007 - 111,829,115RGDNCBI36
Celera10105,570,690 - 105,570,798RGD
Celera10105,570,809 - 105,570,949UniSTS
Cytogenetic Map10q25.2UniSTS
HuRef10105,469,725 - 105,469,833UniSTS
HuRef10105,469,844 - 105,469,972UniSTS
Marshfield Genetic Map10128.73RGD
Genethon Genetic Map10136.3UniSTS
deCODE Assembly Map10127.43UniSTS
Stanford-G3 RH Map105136.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map101179.0UniSTS
GeneMap99-G3 RH Map105372.0UniSTS
1186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,863,076 - 111,863,167UniSTSGRCh37
Build 3610111,853,066 - 111,853,157RGDNCBI36
Celera10105,594,747 - 105,594,838RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,493,769 - 105,493,860UniSTS
GeneMap99-GB4 RH Map10504.55UniSTS
NCBI RH Map101179.0UniSTS
RH44681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,870,139 - 111,870,297UniSTSGRCh37
Build 3610111,860,129 - 111,860,287RGDNCBI36
Celera10105,601,810 - 105,601,968RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,500,832 - 105,500,990UniSTS
GeneMap99-GB4 RH Map10506.99UniSTS
NCBI RH Map101179.0UniSTS
D10S1199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,879,201 - 111,879,506UniSTSGRCh37
Build 3610111,869,191 - 111,869,496RGDNCBI36
Celera10105,610,873 - 105,611,178RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,510,054 - 105,510,359UniSTS
Stanford-G3 RH Map105139.0UniSTS
Whitehead-RH Map10606.9UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map101179.0UniSTS
STS-AA018233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,893,797 - 111,894,042UniSTSGRCh37
Build 3610111,883,787 - 111,884,032RGDNCBI36
Celera10105,625,469 - 105,625,714RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,524,650 - 105,524,895UniSTS
GeneMap99-GB4 RH Map10509.38UniSTS
NCBI RH Map101179.0UniSTS
RH79633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,893,125 - 111,893,341UniSTSGRCh37
Build 3610111,883,115 - 111,883,331RGDNCBI36
Celera10105,624,797 - 105,625,013RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,523,978 - 105,524,194UniSTS
GeneMap99-GB4 RH Map10511.73UniSTS
RH104052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,785,483 - 111,785,627UniSTSGRCh37
Build 3610111,775,473 - 111,775,617RGDNCBI36
Celera10105,517,164 - 105,517,308RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,416,380 - 105,416,524UniSTS
GeneMap99-GB4 RH Map10506.79UniSTS
RH121559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,794,577 - 111,794,906UniSTSGRCh37
Build 3610111,784,567 - 111,784,896RGDNCBI36
Celera10105,526,258 - 105,526,587RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,425,474 - 105,425,803UniSTS
TNG Radiation Hybrid Map1054148.0UniSTS
RH121628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,794,578 - 111,794,901UniSTSGRCh37
Build 3610111,784,568 - 111,784,891RGDNCBI36
Celera10105,526,259 - 105,526,582RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,425,475 - 105,425,798UniSTS
TNG Radiation Hybrid Map1054148.0UniSTS
SHGC-108129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,777,222 - 111,777,334UniSTSGRCh37
Build 3610111,767,212 - 111,767,324RGDNCBI36
Celera10105,508,899 - 105,509,011RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,408,114 - 105,408,226UniSTS
TNG Radiation Hybrid Map1054142.0UniSTS
A007G14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,860,383 - 111,860,597UniSTSGRCh37
Build 3610111,850,373 - 111,850,587RGDNCBI36
Celera10105,592,054 - 105,592,268RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,491,076 - 105,491,290UniSTS
GeneMap99-GB4 RH Map10504.55UniSTS
NCBI RH Map101179.0UniSTS
D10S408E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,863,064 - 111,863,123UniSTSGRCh37
Build 3610111,853,054 - 111,853,113RGDNCBI36
Celera10105,594,735 - 105,594,794RGD
HuRef10105,493,757 - 105,493,816UniSTS
RH78354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,895,069 - 111,895,230UniSTSGRCh37
Build 3610111,885,059 - 111,885,220RGDNCBI36
Celera10105,626,741 - 105,626,902RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,525,922 - 105,526,083UniSTS
GeneMap99-GB4 RH Map10501.93UniSTS
NCBI RH Map101179.0UniSTS
D10S2337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,870,783 - 111,870,878UniSTSGRCh37
Build 3610111,860,773 - 111,860,868RGDNCBI36
Celera10105,602,454 - 105,602,549RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,501,476 - 105,501,571UniSTS
Stanford-G3 RH Map105143.0UniSTS
NCBI RH Map101179.0UniSTS
SHGC-33439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,870,273 - 111,870,422UniSTSGRCh37
Build 3610111,860,263 - 111,860,412RGDNCBI36
Celera10105,601,944 - 105,602,093RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,500,966 - 105,501,115UniSTS
TNG Radiation Hybrid Map1054111.0UniSTS
GeneMap99-GB4 RH Map10504.55UniSTS
Whitehead-RH Map10604.1UniSTS
NCBI RH Map101179.0UniSTS
GeneMap99-G3 RH Map105372.0UniSTS
STS-N93746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,893,092 - 111,893,281UniSTSGRCh37
Build 3610111,883,082 - 111,883,271RGDNCBI36
Celera10105,624,764 - 105,624,953RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,523,945 - 105,524,134UniSTS
GeneMap99-GB4 RH Map10506.99UniSTS
NCBI RH Map101179.0UniSTS
HSC2MD022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,893,775 - 111,893,978UniSTSGRCh37
Build 3610111,883,765 - 111,883,968RGDNCBI36
Celera10105,625,447 - 105,625,650RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,524,628 - 105,524,831UniSTS
GeneMap99-GB4 RH Map10511.25UniSTS
Whitehead-RH Map10608.2UniSTS
NCBI RH Map101179.0UniSTS
A008R19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,870,154 - 111,870,304UniSTSGRCh37
Build 3610111,860,144 - 111,860,294RGDNCBI36
Celera10105,601,825 - 105,601,975RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,500,847 - 105,500,997UniSTS
GeneMap99-GB4 RH Map10504.75UniSTS
NCBI RH Map101179.0UniSTS
RH47300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,893,943 - 111,894,048UniSTSGRCh37
Build 3610111,883,933 - 111,884,038RGDNCBI36
Celera10105,625,615 - 105,625,720RGD
Cytogenetic Map10q25.2UniSTS
HuRef10105,524,796 - 105,524,901UniSTS
GeneMap99-GB4 RH Map10506.79UniSTS
NCBI RH Map101179.0UniSTS
ADD3__4199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,893,450 - 111,894,235UniSTSGRCh37
Build 3610111,883,440 - 111,884,225RGDNCBI36
Celera10105,625,122 - 105,625,907RGD
HuRef10105,524,303 - 105,525,088UniSTS
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
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Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
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
sY3122  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map17p13.3UniSTS
ADD3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,892,123 - 111,893,197UniSTSGRCh37
Celera10105,623,795 - 105,624,869UniSTS
HuRef10105,522,976 - 105,524,050UniSTS
D10S543  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.2UniSTS
Marshfield Genetic Map10128.73UniSTS
Genethon Genetic Map10136.3UniSTS
deCODE Assembly Map10127.43UniSTS
Whitehead-YAC Contig Map10 UniSTS


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 2251 4971 1726 2351 6 624 1950 465 2269 7303 6469 52 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL600737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI544596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF457028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN428885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D67031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA072039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA477660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA700119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF553523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000277900   ⟹   ENSP00000277900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,007,964 - 110,135,565 (+)Ensembl
Ensembl Acc Id: ENST00000356080   ⟹   ENSP00000348381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,007,984 - 110,135,565 (+)Ensembl
Ensembl Acc Id: ENST00000360162   ⟹   ENSP00000353286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,005,804 - 110,134,330 (+)Ensembl
Ensembl Acc Id: ENST00000459738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,008,209 - 110,100,704 (+)Ensembl
Ensembl Acc Id: ENST00000468251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,996,368 - 110,118,608 (+)Ensembl
Ensembl Acc Id: ENST00000468345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,077,005 - 110,117,395 (+)Ensembl
Ensembl Acc Id: ENST00000472568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,123,837 - 110,130,389 (+)Ensembl
Ensembl Acc Id: ENST00000473669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,077,005 - 110,112,906 (+)Ensembl
Ensembl Acc Id: ENST00000475954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,008,252 - 110,117,379 (+)Ensembl
Ensembl Acc Id: ENST00000479805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,125,902 - 110,132,727 (+)Ensembl
Ensembl Acc Id: ENST00000484622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,008,208 - 110,117,359 (+)Ensembl
Ensembl Acc Id: ENST00000486014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,079,239 - 110,124,143 (+)Ensembl
Ensembl Acc Id: ENST00000487085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,008,208 - 110,112,899 (+)Ensembl
Ensembl Acc Id: ENST00000488104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,119,315 - 110,119,690 (+)Ensembl
Ensembl Acc Id: ENST00000488799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,125,755 - 110,133,348 (+)Ensembl
Ensembl Acc Id: ENST00000488837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,121,855 - 110,124,168 (+)Ensembl
Ensembl Acc Id: ENST00000492162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,124,240 - 110,130,393 (+)Ensembl
Ensembl Acc Id: ENST00000495661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,008,231 - 110,112,894 (+)Ensembl
Ensembl Acc Id: ENST00000496517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,016,435 - 110,117,402 (+)Ensembl
Ensembl Acc Id: ENST00000497125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,008,231 - 110,118,630 (+)Ensembl
RefSeq Acc Id: NM_001121   ⟹   NP_001112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
GRCh3710111,765,627 - 111,895,323 (+)NCBI
Build 3610111,757,701 - 111,885,313 (+)NCBI Archive
HuRef10105,396,619 - 105,526,176 (+)ENTREZGENE
CHM1_110112,049,359 - 112,177,067 (+)NCBI
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320591   ⟹   NP_001307520
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,996,373 - 110,135,565 (+)NCBI
CHM1_110112,037,774 - 112,177,067 (+)NCBI
T2T-CHM13v2.010110,880,227 - 111,019,428 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320592   ⟹   NP_001307521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,005,947 - 110,135,565 (+)NCBI
CHM1_110112,047,228 - 112,177,067 (+)NCBI
T2T-CHM13v2.010110,889,800 - 111,019,428 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320593   ⟹   NP_001307522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,005,947 - 110,135,565 (+)NCBI
CHM1_110112,047,228 - 112,177,067 (+)NCBI
T2T-CHM13v2.010110,889,800 - 111,019,428 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320594   ⟹   NP_001307523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
CHM1_110112,049,359 - 112,177,067 (+)NCBI
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016824   ⟹   NP_058432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
GRCh3710111,765,627 - 111,895,323 (+)NCBI
Build 3610111,757,701 - 111,885,313 (+)NCBI Archive
HuRef10105,396,619 - 105,526,176 (+)ENTREZGENE
CHM1_110112,049,359 - 112,177,067 (+)NCBI
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019903   ⟹   NP_063968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,005,947 - 110,135,565 (+)NCBI
GRCh3710111,765,627 - 111,895,323 (+)NCBI
Build 3610111,755,716 - 111,885,313 (+)NCBI Archive
HuRef10105,396,619 - 105,526,176 (+)ENTREZGENE
CHM1_110112,047,228 - 112,177,067 (+)NCBI
T2T-CHM13v2.010110,889,800 - 111,019,428 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447794   ⟹   XP_024303562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,077,044 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447795   ⟹   XP_024303563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447796   ⟹   XP_024303564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447797   ⟹   XP_024303565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,005,947 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447798   ⟹   XP_024303566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,077,044 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447799   ⟹   XP_024303567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,996,373 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447800   ⟹   XP_024303568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,008,231 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447801   ⟹   XP_024303569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447802   ⟹   XP_024303570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,080,951 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447803   ⟹   XP_024303571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,005,947 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447804   ⟹   XP_024303572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447805   ⟹   XP_024303573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447806   ⟹   XP_024303574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,005,947 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447807   ⟹   XP_024303575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,135,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047424587   ⟹   XP_047280543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,996,373 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424588   ⟹   XP_047280544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,996,373 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424589   ⟹   XP_047280545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,008,231 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424590   ⟹   XP_047280546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,996,373 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424591   ⟹   XP_047280547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,077,044 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424592   ⟹   XP_047280548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,077,044 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424593   ⟹   XP_047280549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,008,231 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424594   ⟹   XP_047280550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,077,044 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424595   ⟹   XP_047280551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,996,373 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_047424597   ⟹   XP_047280553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,112,814 - 110,135,565 (+)NCBI
RefSeq Acc Id: XM_054364767   ⟹   XP_054220742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364768   ⟹   XP_054220743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,880,187 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364769   ⟹   XP_054220744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,960,879 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364770   ⟹   XP_054220745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,892,634 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364771   ⟹   XP_054220746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,889,800 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364772   ⟹   XP_054220747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,880,217 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364773   ⟹   XP_054220748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,960,877 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364774   ⟹   XP_054220749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,880,209 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364775   ⟹   XP_054220750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,892,771 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364776   ⟹   XP_054220751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364777   ⟹   XP_054220752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,880,207 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364778   ⟹   XP_054220753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364779   ⟹   XP_054220754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,964,799 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364780   ⟹   XP_054220755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,961,516 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364781   ⟹   XP_054220756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,889,800 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364782   ⟹   XP_054220757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,960,879 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364783   ⟹   XP_054220758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,892,639 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364784   ⟹   XP_054220759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364785   ⟹   XP_054220760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,889,800 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364786   ⟹   XP_054220761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,961,487 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364787   ⟹   XP_054220762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,880,218 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364788   ⟹   XP_054220763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364789   ⟹   XP_054220764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,891,836 - 111,019,428 (+)NCBI
RefSeq Acc Id: XM_054364790   ⟹   XP_054220765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,996,681 - 111,019,428 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001112 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307520 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307521 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307522 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307523 (Get FASTA)   NCBI Sequence Viewer  
  NP_058432 (Get FASTA)   NCBI Sequence Viewer  
  NP_063968 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303562 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303563 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303564 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303565 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303566 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303567 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303568 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303569 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303570 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303571 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303572 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303573 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303574 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303575 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280543 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280544 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280546 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280547 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280548 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280549 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280550 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280551 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220742 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220743 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220744 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220745 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220746 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220747 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220748 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220749 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220750 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220751 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220752 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220753 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220755 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220756 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220757 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220758 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220759 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220760 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220761 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220762 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220763 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220764 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220765 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17126 (Get FASTA)   NCBI Sequence Viewer  
  AAH62559 (Get FASTA)   NCBI Sequence Viewer  
  BAA23783 (Get FASTA)   NCBI Sequence Viewer  
  BAD93047 (Get FASTA)   NCBI Sequence Viewer  
  BAD96990 (Get FASTA)   NCBI Sequence Viewer  
  BAF84177 (Get FASTA)   NCBI Sequence Viewer  
  CAB51805 (Get FASTA)   NCBI Sequence Viewer  
  CAB51806 (Get FASTA)   NCBI Sequence Viewer  
  CAI46048 (Get FASTA)   NCBI Sequence Viewer  
  EAW49571 (Get FASTA)   NCBI Sequence Viewer  
  EAW49572 (Get FASTA)   NCBI Sequence Viewer  
  EAW49573 (Get FASTA)   NCBI Sequence Viewer  
  EAW49574 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000277900
  ENSP00000277900.8
  ENSP00000348381
  ENSP00000348381.4
  ENSP00000353286
  ENSP00000353286.3
GenBank Protein Q9UEY8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_063968   ⟸   NM_019903
- Peptide Label: isoform b
- UniProtKB: Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_058432   ⟸   NM_016824
- Peptide Label: isoform a
- UniProtKB: Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q9UEY8 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001112   ⟸   NM_001121
- Peptide Label: isoform b
- UniProtKB: Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307520   ⟸   NM_001320591
- Peptide Label: isoform a
- UniProtKB: Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q9UEY8 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307521   ⟸   NM_001320592
- Peptide Label: isoform a
- UniProtKB: Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q9UEY8 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307522   ⟸   NM_001320593
- Peptide Label: isoform a
- UniProtKB: Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q9UEY8 (UniProtKB/Swiss-Prot),   Q59EK1 (UniProtKB/TrEMBL),   Q5VU08 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307523   ⟸   NM_001320594
- Peptide Label: isoform c
- UniProtKB: Q53FL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303567   ⟸   XM_024447799
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303571   ⟸   XM_024447803
- Peptide Label: isoform X2
- UniProtKB: Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303565   ⟸   XM_024447797
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303574   ⟸   XM_024447806
- Peptide Label: isoform X2
- UniProtKB: Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303569   ⟸   XM_024447801
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303575   ⟸   XM_024447807
- Peptide Label: isoform X2
- UniProtKB: Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303563   ⟸   XM_024447795
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303572   ⟸   XM_024447804
- Peptide Label: isoform X2
- UniProtKB: Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303564   ⟸   XM_024447796
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303573   ⟸   XM_024447805
- Peptide Label: isoform X2
- UniProtKB: Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303568   ⟸   XM_024447800
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303562   ⟸   XM_024447794
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303566   ⟸   XM_024447798
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303570   ⟸   XM_024447802
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL),   Q59EK1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000353286   ⟸   ENST00000360162
Ensembl Acc Id: ENSP00000277900   ⟸   ENST00000277900
Ensembl Acc Id: ENSP00000348381   ⟸   ENST00000356080
RefSeq Acc Id: XP_047280544   ⟸   XM_047424588
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280546   ⟸   XM_047424590
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280543   ⟸   XM_047424587
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280551   ⟸   XM_047424595
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047280545   ⟸   XM_047424589
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280549   ⟸   XM_047424593
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047280547   ⟸   XM_047424591
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280550   ⟸   XM_047424594
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047280548   ⟸   XM_047424592
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047280553   ⟸   XM_047424597
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054220743   ⟸   XM_054364768
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220752   ⟸   XM_054364777
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220749   ⟸   XM_054364774
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220747   ⟸   XM_054364772
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220762   ⟸   XM_054364787
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220746   ⟸   XM_054364771
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220760   ⟸   XM_054364785
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220756   ⟸   XM_054364781
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220753   ⟸   XM_054364778
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220764   ⟸   XM_054364789
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220751   ⟸   XM_054364776
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220763   ⟸   XM_054364788
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220742   ⟸   XM_054364767
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220759   ⟸   XM_054364784
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220745   ⟸   XM_054364770
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220758   ⟸   XM_054364783
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220750   ⟸   XM_054364775
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220748   ⟸   XM_054364773
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220744   ⟸   XM_054364769
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220757   ⟸   XM_054364782
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220761   ⟸   XM_054364786
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220755   ⟸   XM_054364780
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220754   ⟸   XM_054364779
- Peptide Label: isoform X1
- UniProtKB: Q9UEY8 (UniProtKB/Swiss-Prot),   Q92773 (UniProtKB/Swiss-Prot),   Q5VU09 (UniProtKB/Swiss-Prot),   O43243 (UniProtKB/Swiss-Prot),   D3DRA8 (UniProtKB/Swiss-Prot),   Q9UEY7 (UniProtKB/Swiss-Prot),   Q5VU08 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220765   ⟸   XM_054364790
- Peptide Label: isoform X3
Protein Domains
Class II aldolase/adducin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UEY8-F1-model_v2 AlphaFold Q9UEY8 1-706 view protein structure

Promoters
RGD ID:7218645
Promoter ID:EPDNEW_H15068
Type:initiation region
Name:ADD3_4
Description:adducin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15070  EPDNEW_H15069  EPDNEW_H15071  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,996,373 - 109,996,433EPDNEW
RGD ID:7218649
Promoter ID:EPDNEW_H15069
Type:initiation region
Name:ADD3_3
Description:adducin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15068  EPDNEW_H15070  EPDNEW_H15071  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,005,838 - 110,005,898EPDNEW
RGD ID:7218647
Promoter ID:EPDNEW_H15070
Type:initiation region
Name:ADD3_1
Description:adducin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15068  EPDNEW_H15069  EPDNEW_H15071  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,007,984 - 110,008,044EPDNEW
RGD ID:7218653
Promoter ID:EPDNEW_H15071
Type:initiation region
Name:ADD3_2
Description:adducin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15068  EPDNEW_H15070  EPDNEW_H15069  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,008,231 - 110,008,291EPDNEW
RGD ID:6787320
Promoter ID:HG_KWN:11132
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:NM_001121,   NM_016824,   OTTHUMT00000050292,   OTTHUMT00000050293,   OTTHUMT00000050294,   OTTHUMT00000050297,   OTTHUMT00000050301,   OTTHUMT00000050302,   OTTHUMT00000050303
Position:
Human AssemblyChrPosition (strand)Source
Build 3610111,757,066 - 111,758,167 (+)MPROMDB
RGD ID:6787318
Promoter ID:HG_KWN:11134
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000050298,   OTTHUMT00000050299
Position:
Human AssemblyChrPosition (strand)Source
Build 3610111,826,374 - 111,826,874 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:245 AgrOrtholog
COSMIC ADD3 COSMIC
Ensembl Genes ENSG00000148700 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000277900 ENTREZGENE
  ENST00000277900.12 UniProtKB/Swiss-Prot
  ENST00000356080 ENTREZGENE
  ENST00000356080.9 UniProtKB/Swiss-Prot
  ENST00000360162 ENTREZGENE
  ENST00000360162.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.225.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148700 GTEx
HGNC ID HGNC:245 ENTREZGENE
Human Proteome Map ADD3 Human Proteome Map
InterPro Aldolase-II_Adducin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldolase_II/adducin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldolase_II/adducin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 120 ENTREZGENE
OMIM 601568 OMIM
PANTHER ADDUCIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10672:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldolase_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24567 PharmGKB
SMART Aldolase_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53639 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ADDG_HUMAN UniProtKB/Swiss-Prot
  D3DRA8 ENTREZGENE
  O43243 ENTREZGENE
  Q53FL4 ENTREZGENE, UniProtKB/TrEMBL
  Q59EK1 ENTREZGENE, UniProtKB/TrEMBL
  Q5VU08 ENTREZGENE, UniProtKB/TrEMBL
  Q5VU09 ENTREZGENE
  Q92773 ENTREZGENE
  Q9UEY7 ENTREZGENE
  Q9UEY8 ENTREZGENE
UniProt Secondary D3DRA8 UniProtKB/Swiss-Prot
  O43243 UniProtKB/Swiss-Prot
  Q5VU09 UniProtKB/Swiss-Prot
  Q92773 UniProtKB/Swiss-Prot
  Q9UEY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 ADD3  adducin 3  ADD3  adducin 3 (gamma)  Symbol and/or name change 5135510 APPROVED