OXCT1 (3-oxoacid CoA-transferase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: OXCT1 (3-oxoacid CoA-transferase 1) Homo sapiens
Analyze
Symbol: OXCT1
Name: 3-oxoacid CoA-transferase 1
RGD ID: 1312252
HGNC Page HGNC
Description: Exhibits 3-oxoacid CoA-transferase activity. Involved in cellular ketone body metabolic process. Localizes to mitochondrion. Biomarker of carbohydrate metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-oxoacid CoA transferase; 3-oxoacid CoA transferase 1; 3-oxoacid-CoA transferase 1; OXCT; SCOT; SCOT-s; somatic-type succinyl CoA:3-oxoacid CoA-transferase; somatic-type succinyl-CoA:3-oxoacid CoA-transferase; somatic-type succinyl-CoA:3-oxoacid-CoA-transferase; succinyl CoA:3-oxoacid CoA transferase; succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; succinyl-CoA:3-ketoacid-CoA transferase; succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl541,730,065 - 41,870,425 (-)EnsemblGRCh38hg38GRCh38
GRCh38541,730,065 - 41,870,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37541,730,167 - 41,870,527 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36541,765,924 - 41,906,548 (-)NCBINCBI36hg18NCBI36
Build 34541,765,924 - 41,906,360NCBI
Celera541,618,583 - 41,759,082 (-)NCBI
Cytogenetic Map5p13.1NCBI
HuRef541,683,008 - 41,823,471 (-)NCBIHuRef
CHM1_1541,732,020 - 41,872,646 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amiodarone  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
butanal  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diuron  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
gentamycin  (ISO)
hydrogen sulfide  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
methotrexate  (EXP)
mitoxantrone  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
morphine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP)
parathion  (EXP)
pentanal  (EXP)
pirinixic acid  (ISO)
propanal  (EXP)
resveratrol  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
tamoxifen  (ISO)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial matrix  (TAS)
mitochondrion  (IBA,IDA,ISO,NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1405472   PMID:6150478   PMID:8751852   PMID:9380443   PMID:9671268   PMID:10964512   PMID:11756565   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15496607   PMID:16765626  
PMID:17706444   PMID:18029348   PMID:18648183   PMID:19296078   PMID:20381070   PMID:20652411   PMID:20877624   PMID:21163940   PMID:21296660   PMID:21565611   PMID:21791085   PMID:21873635  
PMID:22863883   PMID:22939629   PMID:23420214   PMID:24344204   PMID:25011556   PMID:25013050   PMID:25921289   PMID:26058080   PMID:26344197   PMID:27499296   PMID:28514442   PMID:29467282  
PMID:29568061   PMID:29955894   PMID:30021884   PMID:30809309   PMID:30833792   PMID:31056398   PMID:31091453   PMID:31536960   PMID:31586073   PMID:32877691  


Genomics

Comparative Map Data
OXCT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl541,730,065 - 41,870,425 (-)EnsemblGRCh38hg38GRCh38
GRCh38541,730,065 - 41,870,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37541,730,167 - 41,870,527 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36541,765,924 - 41,906,548 (-)NCBINCBI36hg18NCBI36
Build 34541,765,924 - 41,906,360NCBI
Celera541,618,583 - 41,759,082 (-)NCBI
Cytogenetic Map5p13.1NCBI
HuRef541,683,008 - 41,823,471 (-)NCBIHuRef
CHM1_1541,732,020 - 41,872,646 (-)NCBICHM1_1
Oxct1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39154,055,910 - 4,184,826 (+)NCBIGRCm39mm39
GRCm39 Ensembl154,055,865 - 4,184,826 (+)Ensembl
GRCm38154,026,428 - 4,155,344 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl154,026,383 - 4,155,344 (+)EnsemblGRCm38mm10GRCm38
MGSCv37153,976,428 - 4,105,344 (+)NCBIGRCm37mm9NCBIm37
MGSCv36153,976,749 - 4,104,101 (+)NCBImm8
Celera153,888,106 - 4,016,714 (+)NCBICelera
Cytogenetic Map15A1NCBI
Oxct1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2253,236,370 - 53,384,715 (+)NCBI
Rnor_6.0 Ensembl253,859,737 - 54,007,756 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0253,859,738 - 54,007,733 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0272,891,713 - 73,037,617 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4253,189,358 - 53,217,848 (+)NCBIRGSC3.4rn4RGSC3.4
Celera248,914,408 - 49,050,216 (+)NCBICelera
Cytogenetic Map2q16NCBI
Oxct1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542625,885,518 - 26,003,743 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542625,885,518 - 25,998,187 (-)NCBIChiLan1.0ChiLan1.0
OXCT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1573,571,227 - 73,710,316 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl573,563,758 - 73,710,316 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0568,528,765 - 68,668,305 (+)NCBIMhudiblu_PPA_v0panPan3
OXCT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1467,709,846 - 67,841,737 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl467,527,531 - 67,841,518 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha467,392,579 - 67,524,955 (+)NCBI
ROS_Cfam_1.0468,221,131 - 68,355,789 (+)NCBI
UMICH_Zoey_3.1467,962,898 - 68,117,238 (+)NCBI
UNSW_CanFamBas_1.0468,093,650 - 68,227,696 (+)NCBI
UU_Cfam_GSD_1.0468,633,289 - 68,767,738 (+)NCBI
Oxct1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213230,314,635 - 230,446,563 (-)NCBI
SpeTri2.0NW_004936518924,840 - 1,057,201 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OXCT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1626,512,396 - 26,659,845 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11626,514,497 - 26,659,739 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21627,702,633 - 27,729,489 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21627,840,670 - 27,923,998 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OXCT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1440,477,983 - 40,620,971 (-)NCBI
Oxct1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475913,093,409 - 13,247,244 (+)NCBI

Position Markers
WI-22128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37541,872,046 - 41,872,316UniSTSGRCh37
Build 36541,907,803 - 41,908,073RGDNCBI36
Celera541,760,337 - 41,760,607RGD
Cytogenetic Map5p13.1UniSTS
HuRef541,824,726 - 41,824,996UniSTS
GeneMap99-GB4 RH Map5138.28UniSTS
Whitehead-RH Map5126.5UniSTS
G18180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37541,828,930 - 41,829,173UniSTSGRCh37
Build 36541,864,687 - 41,864,930RGDNCBI36
Celera541,717,201 - 41,717,444RGD
Cytogenetic Map5p13.1UniSTS
HuRef541,781,716 - 41,781,959UniSTS
D5S2324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37541,730,202 - 41,730,418UniSTSGRCh37
Build 36541,765,959 - 41,766,175RGDNCBI36
Celera541,618,618 - 41,618,834RGD
Cytogenetic Map5p13.1UniSTS
HuRef541,683,043 - 41,683,259UniSTS
GeneMap99-GB4 RH Map5148.87UniSTS
Whitehead-RH Map5126.8UniSTS
Whitehead-YAC Contig Map5 UniSTS
D17S610  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map10q21.1UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
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
D17S1239  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p24UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map15q22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1661
Count of miRNA genes:551
Interacting mature miRNAs:624
Transcripts:ENST00000196371, ENST00000503374, ENST00000508557, ENST00000509987, ENST00000510634, ENST00000512084, ENST00000513081, ENST00000514723
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2182 2139 1169 184 1091 32 4092 1826 3420 323 1325 1431 163 1184 2540 1
Low 246 807 386 269 811 261 263 371 314 91 129 178 12 1 20 248 3 2
Below cutoff 8 45 169 169 47 170 1 4 4 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB072192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE244429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF095213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000196371   ⟹   ENSP00000196371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,730,065 - 41,870,425 (-)Ensembl
RefSeq Acc Id: ENST00000503374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,731,739 - 41,739,721 (-)Ensembl
RefSeq Acc Id: ENST00000508557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,731,581 - 41,794,135 (-)Ensembl
RefSeq Acc Id: ENST00000509987   ⟹   ENSP00000425348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,731,370 - 41,843,657 (-)Ensembl
RefSeq Acc Id: ENST00000510634   ⟹   ENSP00000423144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,730,841 - 41,794,583 (-)Ensembl
RefSeq Acc Id: ENST00000512084   ⟹   ENSP00000421143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,730,741 - 41,794,380 (-)Ensembl
RefSeq Acc Id: ENST00000513081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,749,527 - 41,794,643 (-)Ensembl
RefSeq Acc Id: ENST00000514723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl541,749,601 - 41,842,757 (-)Ensembl
RefSeq Acc Id: NM_000436   ⟹   NP_000427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,730,065 - 41,870,425 (-)NCBI
GRCh37541,730,167 - 41,870,791 (-)ENTREZGENE
Build 36541,765,924 - 41,906,548 (-)NCBI Archive
HuRef541,683,008 - 41,823,471 (-)ENTREZGENE
CHM1_1541,732,020 - 41,872,646 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364299   ⟹   NP_001351228
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,730,065 - 41,870,425 (-)NCBI
RefSeq Acc Id: NM_001364300   ⟹   NP_001351229
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,730,065 - 41,870,425 (-)NCBI
RefSeq Acc Id: NM_001364301   ⟹   NP_001351230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,730,065 - 41,870,425 (-)NCBI
RefSeq Acc Id: NM_001364302   ⟹   NP_001351231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,730,065 - 41,870,425 (-)NCBI
RefSeq Acc Id: NM_001364303   ⟹   NP_001351232
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,730,065 - 41,843,657 (-)NCBI
RefSeq Acc Id: NR_157114
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,730,065 - 41,870,425 (-)NCBI
RefSeq Acc Id: XR_001742081
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,749,592 - 41,870,535 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000427   ⟸   NM_000436
- Peptide Label: isoform 3 precursor
- UniProtKB: P55809 (UniProtKB/Swiss-Prot),   A0A024R040 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351230   ⟸   NM_001364301
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001351231   ⟸   NM_001364302
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001351228   ⟸   NM_001364299
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001351229   ⟸   NM_001364300
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001351232   ⟸   NM_001364303
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000425348   ⟸   ENST00000509987
RefSeq Acc Id: ENSP00000423144   ⟸   ENST00000510634
RefSeq Acc Id: ENSP00000196371   ⟸   ENST00000196371
RefSeq Acc Id: ENSP00000421143   ⟸   ENST00000512084

Promoters
RGD ID:6869496
Promoter ID:EPDNEW_H7913
Type:initiation region
Name:OXCT1_1
Description:3-oxoacid CoA-transferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38541,870,425 - 41,870,485EPDNEW
RGD ID:6803415
Promoter ID:HG_KWN:50044
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
Transcripts:NM_000436
Position:
Human AssemblyChrPosition (strand)Source
Build 36541,906,054 - 41,906,554 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000436.4(OXCT1):c.1248+5G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000034378] Chr5:41793998 [GRCh38]
Chr5:41794100 [GRCh37]
Chr5:5p13.1
pathogenic
NM_000436.4(OXCT1):c.848C>G (p.Ser283Ter) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000008641] Chr5:41805674 [GRCh38]
Chr5:41805776 [GRCh37]
Chr5:5p13.1
pathogenic
NM_000436.4(OXCT1):c.1367G>T (p.Cys456Phe) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000008642] Chr5:41749579 [GRCh38]
Chr5:41749681 [GRCh37]
Chr5:5p13.1
pathogenic
NM_000436.4(OXCT1):c.971G>A (p.Gly324Glu) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000008644]|not provided [RCV001091907] Chr5:41803148 [GRCh38]
Chr5:41803250 [GRCh37]
Chr5:5p13.1
pathogenic
NM_000436.4(OXCT1):c.656G>A (p.Gly219Glu) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000008645] Chr5:41842690 [GRCh38]
Chr5:41842792 [GRCh37]
Chr5:5p13.1
pathogenic
NM_000436.4(OXCT1):c.661G>A (p.Val221Met) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000008646] Chr5:41842685 [GRCh38]
Chr5:41842787 [GRCh37]
Chr5:5p13.1
pathogenic
NM_000436.3(OXCT1):c.1248+5384C>T single nucleotide variant Lung cancer [RCV000095947] Chr5:41788619 [GRCh38]
Chr5:41788721 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.3(OXCT1):c.733-4456A>T single nucleotide variant Lung cancer [RCV000095948] Chr5:41811894 [GRCh38]
Chr5:41811996 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.3(OXCT1):c.733-15784C>T single nucleotide variant Lung cancer [RCV000095949] Chr5:41823222 [GRCh38]
Chr5:41823324 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12
pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
NM_000436.3(OXCT1):c.566T>G (p.Val189Gly) single nucleotide variant Malignant melanoma [RCV000066941] Chr5:41842780 [GRCh38]
Chr5:41842882 [GRCh37]
Chr5:41878639 [NCBI36]
Chr5:5p13.1
not provided
NM_000436.4(OXCT1):c.-5C>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000297844]|not provided [RCV000078817] Chr5:41870363 [GRCh38]
Chr5:41870465 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000353371]|not provided [RCV000078818] Chr5:41739420 [GRCh38]
Chr5:41739522 [GRCh37]
Chr5:5p13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000436.4(OXCT1):c.414+7A>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000340878]|not provided [RCV000676889]|not specified [RCV000078819] Chr5:41853412 [GRCh38]
Chr5:41853514 [GRCh37]
Chr5:5p13.1
benign
NM_000436.4(OXCT1):c.415G>A (p.Gly139Ser) single nucleotide variant not provided [RCV000078820] Chr5:41850179 [GRCh38]
Chr5:41850281 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.480G>A (p.Gly160=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001153310]|not specified [RCV000078821] Chr5:41850114 [GRCh38]
Chr5:41850216 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.4(OXCT1):c.677G>T (p.Ser226Ile) single nucleotide variant not provided [RCV000078822] Chr5:41840506 [GRCh38]
Chr5:41840608 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.78+10dup duplication Succinyl-CoA acetoacetate transferase deficiency [RCV000407930]|not provided [RCV000078823] Chr5:41870266..41870267 [GRCh38]
Chr5:41870368..41870369 [GRCh37]
Chr5:5p13.1
likely benign|uncertain significance
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000987520]|not provided [RCV000755334]|not specified [RCV000153630] Chr5:41862717 [GRCh38]
Chr5:41862819 [GRCh37]
Chr5:5p13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000290655]|not provided [RCV000676888]|not specified [RCV000153629] Chr5:41850114 [GRCh38]
Chr5:41850216 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.4(OXCT1):c.733G>T (p.Val245Phe) single nucleotide variant not provided [RCV000153628] Chr5:41807438 [GRCh38]
Chr5:41807540 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1339-12T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000263226] Chr5:41749619 [GRCh38]
Chr5:41749721 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
NM_000436.4(OXCT1):c.*1434G>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000281183] Chr5:41730295 [GRCh38]
Chr5:41730397 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.3(OXCT1):c.-215A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000275686] Chr5:41870573 [GRCh38]
Chr5:41870675 [GRCh37]
Chr5:5p13.1
benign
NM_000436.4(OXCT1):c.1555G>A (p.Ala519Thr) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000298531] Chr5:41731737 [GRCh38]
Chr5:41731839 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.733-3T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000333467]|not provided [RCV000676887] Chr5:41807441 [GRCh38]
Chr5:41807543 [GRCh37]
Chr5:5p13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000368343] Chr5:41801041 [GRCh38]
Chr5:41801143 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*1444G>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000375464] Chr5:41730285 [GRCh38]
Chr5:41730387 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.4(OXCT1):c.1099+2T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000318300] Chr5:41801020 [GRCh38]
Chr5:41801122 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.671+3A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000289379] Chr5:41842672 [GRCh38]
Chr5:41842774 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*26G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000405087] Chr5:41731703 [GRCh38]
Chr5:41731805 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.-60C>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000405419] Chr5:41870418 [GRCh38]
Chr5:41870520 [GRCh37]
Chr5:5p13.1
benign|uncertain significance
NM_000436.4(OXCT1):c.79-11del deletion Succinyl-CoA acetoacetate transferase deficiency [RCV000342189] Chr5:41862761 [GRCh38]
Chr5:41862863 [GRCh37]
Chr5:5p13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000436.4(OXCT1):c.565-13C>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000325696] Chr5:41842794 [GRCh38]
Chr5:41842896 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.3(OXCT1):c.-305G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000326036] Chr5:41870663 [GRCh38]
Chr5:41870765 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*1041G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000345151] Chr5:41730688 [GRCh38]
Chr5:41730790 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.696G>A (p.Leu232=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000388407] Chr5:41840487 [GRCh38]
Chr5:41840589 [GRCh37]
Chr5:5p13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000436.4(OXCT1):c.*191A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000346360] Chr5:41731538 [GRCh38]
Chr5:41731640 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*1072A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000294877] Chr5:41730657 [GRCh38]
Chr5:41730759 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*157G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000392933] Chr5:41731572 [GRCh38]
Chr5:41731674 [GRCh37]
Chr5:5p13.1
likely benign|uncertain significance
NM_000436.4(OXCT1):c.*935A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000392942] Chr5:41730794 [GRCh38]
Chr5:41730896 [GRCh37]
Chr5:5p13.1
benign|uncertain significance
NM_000436.4(OXCT1):c.*1229C>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000350195] Chr5:41730500 [GRCh38]
Chr5:41730602 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.3(OXCT1):c.-192G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000367844] Chr5:41870550 [GRCh38]
Chr5:41870652 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.4(OXCT1):c.79-22dup duplication Succinyl-CoA acetoacetate transferase deficiency [RCV000287009] Chr5:41862760..41862761 [GRCh38]
Chr5:41862862..41862863 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.956-15A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000273746] Chr5:41803178 [GRCh38]
Chr5:41803280 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.809T>A (p.Ile270Lys) single nucleotide variant not provided [RCV000283149] Chr5:41807362 [GRCh38]
Chr5:41807464 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*1077dup duplication Succinyl-CoA acetoacetate transferase deficiency [RCV000386026] Chr5:41730651..41730652 [GRCh38]
Chr5:41730753..41730754 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*94A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000361505] Chr5:41731635 [GRCh38]
Chr5:41731737 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.402G>T (p.Glu134Asp) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000398748] Chr5:41853431 [GRCh38]
Chr5:41853533 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.518A>G (p.Lys173Arg) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000384976] Chr5:41850076 [GRCh38]
Chr5:41850178 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.3(OXCT1):c.-346G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000260473] Chr5:41870704 [GRCh38]
Chr5:41870806 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.*567C>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000310125] Chr5:41731162 [GRCh38]
Chr5:41731264 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000530890]|not provided [RCV000676890] Chr5:41862656 [GRCh38]
Chr5:41862758 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.4(OXCT1):c.-54G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000357339] Chr5:41870412 [GRCh38]
Chr5:41870514 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.3(OXCT1):c.-133G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000313157] Chr5:41870491 [GRCh38]
Chr5:41870593 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*138C>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000302063] Chr5:41731591 [GRCh38]
Chr5:41731693 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1183G>A (p.Asp395Asn) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001152041] Chr5:41794068 [GRCh38]
Chr5:41794170 [GRCh37]
Chr5:5p13.1
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_000436.4(OXCT1):c.35G>A (p.Arg12Gln) single nucleotide variant not provided [RCV000676891] Chr5:41870324 [GRCh38]
Chr5:41870426 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
NM_000436.4(OXCT1):c.853C>T (p.Arg285Trp) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000688554] Chr5:41805669 [GRCh38]
Chr5:41805771 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_000436.4(OXCT1):c.873A>G (p.Glu291=) single nucleotide variant not provided [RCV000905039] Chr5:41805649 [GRCh38]
Chr5:41805751 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.1506T>C (p.Thr502=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000967676] Chr5:41739405 [GRCh38]
Chr5:41739507 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.4(OXCT1):c.477A>G (p.Thr159=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000902139] Chr5:41850117 [GRCh38]
Chr5:41850219 [GRCh37]
Chr5:5p13.1
benign|conflicting interpretations of pathogenicity
NM_000436.4(OXCT1):c.39C>G (p.Leu13=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001061368] Chr5:41870320 [GRCh38]
Chr5:41870422 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.64G>T (p.Ala22Ser) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001040411] Chr5:41870295 [GRCh38]
Chr5:41870397 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.671+6G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000821047] Chr5:41842669 [GRCh38]
Chr5:41842771 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1479G>A (p.Leu493=) single nucleotide variant not provided [RCV000980400] Chr5:41739432 [GRCh38]
Chr5:41739534 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.564+4A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000940724] Chr5:41850026 [GRCh38]
Chr5:41850128 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.279-7C>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000967669] Chr5:41853561 [GRCh38]
Chr5:41853663 [GRCh37]
Chr5:5p13.1
benign
NM_000436.4(OXCT1):c.99C>G (p.Ser33=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000923373] Chr5:41862730 [GRCh38]
Chr5:41862832 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.955+4T>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000823826] Chr5:41805563 [GRCh38]
Chr5:41805665 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.193G>A (p.Gly65Arg) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000987519] Chr5:41861399 [GRCh38]
Chr5:41861501 [GRCh37]
Chr5:5p13.1
likely pathogenic
NM_000436.4(OXCT1):c.424G>C (p.Ala142Pro) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000785998] Chr5:41850170 [GRCh38]
Chr5:41850272 [GRCh37]
Chr5:5p13.1
likely pathogenic
NM_000436.4(OXCT1):c.*1345A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001151941] Chr5:41730384 [GRCh38]
Chr5:41730486 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000984940] Chr5:41749544 [GRCh38]
Chr5:41749646 [GRCh37]
Chr5:5p13.1
pathogenic|likely pathogenic
NM_000436.4(OXCT1):c.*1616A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001151939] Chr5:41730113 [GRCh38]
Chr5:41730215 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.812A>G (p.Lys271Arg) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001213080] Chr5:41807359 [GRCh38]
Chr5:41807461 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1180G>A (p.Val394Ile) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001212308] Chr5:41794071 [GRCh38]
Chr5:41794173 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_000436.4(OXCT1):c.*1011T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001153207] Chr5:41730718 [GRCh38]
Chr5:41730820 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.930_931delinsCT (p.Leu311Phe) indel Succinyl-CoA acetoacetate transferase deficiency [RCV001234000] Chr5:41805591..41805592 [GRCh38]
Chr5:41805693..41805694 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1
pathogenic
NM_000436.4(OXCT1):c.477A>C (p.Thr159=) single nucleotide variant not provided [RCV000928112] Chr5:41850117 [GRCh38]
Chr5:41850219 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001002072] Chr5:41842696 [GRCh38]
Chr5:41842798 [GRCh37]
Chr5:5p13.1
benign|likely benign
NM_000436.4(OXCT1):c.510G>A (p.Ser170=) single nucleotide variant not provided [RCV000942339] Chr5:41850084 [GRCh38]
Chr5:41850186 [GRCh37]
Chr5:5p13.1
likely benign
NM_000436.4(OXCT1):c.660C>T (p.Asn220=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV000973773] Chr5:41842686 [GRCh38]
Chr5:41842788 [GRCh37]
Chr5:5p13.1
benign
NM_000436.4(OXCT1):c.*965T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001153208] Chr5:41730764 [GRCh38]
Chr5:41730866 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.79-12T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001155914] Chr5:41862762 [GRCh38]
Chr5:41862864 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1520C>T (p.Ala507Val) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001157510] Chr5:41739391 [GRCh38]
Chr5:41739493 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001027978] Chr5:41853463 [GRCh38]
Chr5:41853565 [GRCh37]
Chr5:5p13.1
likely pathogenic
NM_000436.4(OXCT1):c.*583G>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001155804] Chr5:41731146 [GRCh38]
Chr5:41731248 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*362C>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001155805] Chr5:41731367 [GRCh38]
Chr5:41731469 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.16C>T (p.Leu6Phe) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001155915] Chr5:41870343 [GRCh38]
Chr5:41870445 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1413T>G (p.Thr471=) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001157511] Chr5:41749533 [GRCh38]
Chr5:41749635 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*1473G>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001151940] Chr5:41730256 [GRCh38]
Chr5:41730358 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.672-3T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001036394] Chr5:41840514 [GRCh38]
Chr5:41840616 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*1266A>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001153205] Chr5:41730463 [GRCh38]
Chr5:41730565 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*956T>C single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001153209] Chr5:41730773 [GRCh38]
Chr5:41730875 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*188A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001155806] Chr5:41731541 [GRCh38]
Chr5:41731643 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.644C>T (p.Ala215Val) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001233999] Chr5:41842702 [GRCh38]
Chr5:41842804 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.1339-2A>G single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001250200] Chr5:41749609 [GRCh38]
Chr5:41749711 [GRCh37]
Chr5:5p13.1
likely pathogenic
NM_000436.4(OXCT1):c.148G>A (p.Val50Ile) single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001250074] Chr5:41862681 [GRCh38]
Chr5:41862783 [GRCh37]
Chr5:5p13.1
uncertain significance
NC_000005.10:g.41870461C>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001155916] Chr5:41870461 [GRCh38]
Chr5:41870563 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000436.4(OXCT1):c.*1023G>A single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001153206] Chr5:41730706 [GRCh38]
Chr5:41730808 [GRCh37]
Chr5:5p13.1
uncertain significance
NC_000005.10:g.41870495C>T single nucleotide variant Succinyl-CoA acetoacetate transferase deficiency [RCV001157617] Chr5:41870495 [GRCh38]
Chr5:41870597 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8527 AgrOrtholog
COSMIC OXCT1 COSMIC
Ensembl Genes ENSG00000083720 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000196371 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421143 UniProtKB/Swiss-Prot
  ENSP00000423144 UniProtKB/Swiss-Prot
  ENSP00000425348 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000196371 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509987 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000510634 UniProtKB/Swiss-Prot
  ENST00000512084 UniProtKB/Swiss-Prot
GTEx ENSG00000083720 GTEx
HGNC ID HGNC:8527 ENTREZGENE
Human Proteome Map OXCT1 Human Proteome Map
InterPro 3-oxoacid_CoA-transf_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3-oxoacid_CoA-transf_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3-oxoacid_CoA-transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CoA_trans_fam_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CoA_transf_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CoA_transf_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NagB/RpiA_transferase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5019 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5019 ENTREZGENE
OMIM 245050 OMIM
  601424 OMIM
PANTHER PTHR13707 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CoA_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32855 PharmGKB
PIRSF SCOT-t UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE COA_TRANSF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_TRANSF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CoA_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF100950 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs pcaI_scoA_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  pcaJ_scoB_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R040 ENTREZGENE, UniProtKB/TrEMBL
  A1E286_HUMAN UniProtKB/TrEMBL
  E9PDW2_HUMAN UniProtKB/TrEMBL
  P55809 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R5V2 UniProtKB/Swiss-Prot
  B7Z528 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 OXCT1  3-oxoacid CoA-transferase 1  OXCT1  3-oxoacid CoA transferase 1  Symbol and/or name change 5135510 APPROVED