ABCG1 (ATP binding cassette subfamily G member 1) - Rat Genome Database
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Gene: ABCG1 (ATP binding cassette subfamily G member 1) Homo sapiens
Analyze
Symbol: ABCG1
Name: ATP binding cassette subfamily G member 1
RGD ID: 732853
HGNC Page HGNC
Description: Exhibits several functions, including adenyl ribonucleotide binding activity; lipid transporter activity; and protein dimerization activity. Involved in several processes, including glycoprotein transport; lipid homeostasis; and lipid transport. Localizes to external side of plasma membrane and mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC transporter 8; ABC8; ATP-binding cassette sub-family G member 1; ATP-binding cassette transporter 8; ATP-binding cassette transporter member 1 of subfamily G; ATP-binding cassette, sub-family G (WHITE), member 1; homolog of Drosophila white; MGC34313; white protein homolog (ATP-binding cassette transporter 8); WHITE1
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 Ensembl2142,199,689 - 42,297,244 (+)EnsemblGRCh38hg38GRCh38
GRCh382142,199,689 - 42,304,387 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372143,619,799 - 43,724,497 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,492,868 - 42,590,423 (+)NCBINCBI36hg18NCBI36
Build 342142,549,262 - 42,590,421NCBI
Celera2128,767,307 - 28,866,320 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2129,038,262 - 29,134,637 (+)NCBIHuRef
CHM1_12143,180,637 - 43,277,563 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(24S)-24-hydroxycholesterol  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (EXP)
(S)-nicotine  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (ISO)
22-Hydroxycholesterol  (EXP)
25-hydroxycholesterol  (ISO)
26-hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-aza-2'-deoxycytidine  (EXP)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (EXP,ISO)
acetamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arachidonic acid  (EXP)
Aroclor 1254  (ISO)
atrazine  (ISO)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-D-glucosamine  (ISO)
beta-hexachlorocyclohexane  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
carbon nanotube  (EXP,ISO)
chloroacetaldehyde  (EXP)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
clothianidin  (EXP)
clozapine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
cypermethrin  (EXP)
decabromodiphenyl ether  (ISO)
dextran sulfate  (ISO)
diazinon  (EXP)
dibutyl phthalate  (EXP,ISO)
dioxygen  (EXP)
disulfiram  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (EXP,ISO)
fenofibrate  (ISO)
fenvalerate  (ISO)
flusilazole  (ISO)
gamma-hexachlorocyclohexane  (EXP)
gentamycin  (ISO)
GW 3965  (EXP,ISO)
Heptachlor epoxide  (ISO)
hexadecanoic acid  (EXP)
high-density lipoprotein cholesterol  (ISO)
ibuprofen  (EXP)
ifosfamide  (EXP)
isotretinoin  (ISO)
ketamine  (ISO)
kuwanone G  (ISO)
linoleic acid  (EXP)
lipopolysaccharide  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (EXP)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (EXP)
nicotine  (EXP,ISO)
nicotinic acid  (ISO)
obeticholic acid  (EXP)
ochratoxin A  (EXP)
octadecanoic acid  (EXP)
oleic acid  (EXP)
oxycodone  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenytoin  (ISO)
pirinixic acid  (EXP,ISO)
progesterone  (EXP,ISO)
raloxifene  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
rosuvastatin calcium  (EXP)
rotenone  (ISO)
scopolamine  (ISO)
silicon dioxide  (EXP)
simvastatin  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
succimer  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP)
tebuconazole  (EXP)
telmisartan  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triadimefon  (EXP)
tributylstannane  (EXP)
Tributyltin oxide  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP,ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vecuronium bromide  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:8619474   PMID:8659545   PMID:8703120   PMID:9034316   PMID:9110174   PMID:10799558   PMID:10830953   PMID:10950923   PMID:11072082   PMID:11162488   PMID:11279031   PMID:11350058  
PMID:11500512   PMID:11590207   PMID:12032171   PMID:12477932   PMID:14702039   PMID:15240127   PMID:15489334   PMID:15492319   PMID:15584507   PMID:15994327   PMID:16024918   PMID:16054053  
PMID:16357317   PMID:16556852   PMID:16702602   PMID:16730733   PMID:16780588   PMID:16857950   PMID:16870176   PMID:16902247   PMID:17020879   PMID:17082211   PMID:17121837   PMID:17141191  
PMID:17187964   PMID:17241464   PMID:17293612   PMID:17387528   PMID:17408620   PMID:17761632   PMID:17848583   PMID:18057374   PMID:18490524   PMID:18599800   PMID:18619413   PMID:18640393  
PMID:18660489   PMID:18827283   PMID:19168441   PMID:19287193   PMID:19322201   PMID:19343046   PMID:19481530   PMID:19556716   PMID:19839639   PMID:19895785   PMID:19913121   PMID:19948975  
PMID:20057170   PMID:20170916   PMID:20395595   PMID:20585627   PMID:20628086   PMID:20675829   PMID:20713650   PMID:20798376   PMID:20931526   PMID:21111593   PMID:21289254   PMID:21295304  
PMID:21722899   PMID:21817095   PMID:21821149   PMID:21873635   PMID:21978921   PMID:22042635   PMID:22155456   PMID:22353356   PMID:22365996   PMID:22466164   PMID:22503545   PMID:22614118  
PMID:22753765   PMID:22772754   PMID:22872754   PMID:23139370   PMID:23172659   PMID:23402987   PMID:23564066   PMID:23770099   PMID:23826352   PMID:23880356   PMID:23897420   PMID:23990020  
PMID:24192121   PMID:24212237   PMID:24320932   PMID:24393350   PMID:24500716   PMID:24529757   PMID:24576892   PMID:24801727   PMID:24901717   PMID:24972087   PMID:25084356   PMID:25181357  
PMID:25225013   PMID:25249572   PMID:25302608   PMID:25339664   PMID:25398214   PMID:25509420   PMID:25583993   PMID:25600616   PMID:25616132   PMID:25732853   PMID:25890853   PMID:26051418  
PMID:26253613   PMID:26296893   PMID:26496610   PMID:26695502   PMID:26757251   PMID:26945479   PMID:26981778   PMID:27148772   PMID:27196068   PMID:27228027   PMID:27239842   PMID:27420620  
PMID:27482882   PMID:27787563   PMID:27928700   PMID:28241820   PMID:28264879   PMID:28611215   PMID:29524862   PMID:29540530   PMID:29643945   PMID:29678642   PMID:30227118   PMID:30393020  
PMID:30633988   PMID:30910588   PMID:30938872   PMID:30970222   PMID:31037158   PMID:31101336   PMID:31159502   PMID:31167810   PMID:31172973   PMID:31189171   PMID:31432185   PMID:31638178  
PMID:31823830   PMID:31853766   PMID:32296183   PMID:32339682  


Genomics

Comparative Map Data
ABCG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2142,199,689 - 42,297,244 (+)EnsemblGRCh38hg38GRCh38
GRCh382142,199,689 - 42,304,387 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372143,619,799 - 43,724,497 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,492,868 - 42,590,423 (+)NCBINCBI36hg18NCBI36
Build 342142,549,262 - 42,590,421NCBI
Celera2128,767,307 - 28,866,320 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2129,038,262 - 29,134,637 (+)NCBIHuRef
CHM1_12143,180,637 - 43,277,563 (+)NCBICHM1_1
Abcg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391731,276,668 - 31,336,958 (+)NCBIGRCm39mm39
GRCm381731,057,694 - 31,117,984 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1731,057,675 - 31,117,988 (+)EnsemblGRCm38mm10GRCm38
MGSCv371731,194,639 - 31,254,929 (+)NCBIGRCm37mm9NCBIm37
MGSCv361730,777,799 - 30,842,789 (+)NCBImm8
Celera1731,974,265 - 32,035,260 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
Abcg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0209,743,269 - 9,842,735 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl209,743,269 - 9,840,489 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02011,922,393 - 12,022,892 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4209,390,485 - 9,459,574 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1209,390,711 - 9,459,801 (+)NCBI
Celera2010,652,719 - 10,708,365 (+)NCBICelera
Cytogenetic Map20p12NCBI
Abcg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540739,410,262 - 39,459,383 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540739,410,262 - 39,459,383 (-)NCBIChiLan1.0ChiLan1.0
ABCG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12141,856,585 - 41,941,031 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2141,839,115 - 41,933,050 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02128,534,697 - 28,619,590 (+)NCBIMhudiblu_PPA_v0panPan3
ABCG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3136,553,380 - 36,620,043 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13136,574,406 - 36,627,598 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Abcg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365001,620,763 - 1,678,561 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13205,561,951 - 205,628,425 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113205,561,897 - 205,628,428 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213215,898,408 - 215,965,031 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCG1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1286,098,818 - 86,176,101 (+)NCBI
ChlSab1.1 Ensembl286,099,414 - 86,179,949 (+)Ensembl
Abcg1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474528,137,140 - 28,188,670 (-)NCBI

Position Markers
RH120041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,697,804 - 43,698,094UniSTSGRCh37
Build 362142,570,873 - 42,571,163RGDNCBI36
Celera2128,845,346 - 28,845,636RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,115,912 - 29,116,202UniSTS
TNG Radiation Hybrid Map2116867.0UniSTS
SHGC-111166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,638,079 - 43,638,376UniSTSGRCh37
Build 362142,511,148 - 42,511,445RGDNCBI36
Celera2128,785,586 - 28,785,883RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,056,532 - 29,056,829UniSTS
TNG Radiation Hybrid Map2116827.0UniSTS
G20514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,717,094 - 43,717,302UniSTSGRCh37
Build 362142,590,163 - 42,590,371RGDNCBI36
Celera2128,866,060 - 28,866,268RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,134,377 - 29,134,585UniSTS
A005U31  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,717,094 - 43,717,302UniSTSGRCh37
Build 362142,590,163 - 42,590,371RGDNCBI36
Celera2128,866,060 - 28,866,268RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,134,377 - 29,134,585UniSTS
GeneMap99-GB4 RH Map21226.39UniSTS
NCBI RH Map21385.4UniSTS
D21S1225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,663,451 - 43,663,669UniSTSGRCh37
Build 362142,536,520 - 42,536,738RGDNCBI36
Celera2128,810,958 - 28,811,174RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,081,903 - 29,082,121UniSTS
TNG Radiation Hybrid Map2116809.0UniSTS
Stanford-G3 RH Map211513.0UniSTS
G34692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,717,099 - 43,717,222UniSTSGRCh37
Build 362142,590,168 - 42,590,291RGDNCBI36
Celera2128,866,065 - 28,866,188RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,134,382 - 29,134,505UniSTS
STS_CEB276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,687,323 - 43,688,160UniSTSGRCh37
Build 362142,560,392 - 42,561,229RGDNCBI36
Celera2128,834,865 - 28,835,702RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,105,613 - 29,106,259UniSTS
SHGC-87665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,645,846 - 43,646,022UniSTSGRCh37
Build 362142,518,915 - 42,519,091RGDNCBI36
Celera2128,793,353 - 28,793,529RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,064,299 - 29,064,475UniSTS
TNG Radiation Hybrid Map2116827.0UniSTS
GeneMap99-GB4 RH Map21263.63UniSTS
ABCG1_3286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,716,519 - 43,717,382UniSTSGRCh37
Build 362142,589,588 - 42,590,451RGDNCBI36
Celera2128,865,484 - 28,866,348RGD
HuRef2129,133,799 - 29,134,665UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3870
Count of miRNA genes:781
Interacting mature miRNAs:877
Transcripts:ENST00000340588, ENST00000343687, ENST00000347800, ENST00000361802, ENST00000398437, ENST00000398449, ENST00000398457, ENST00000450121, ENST00000462050, ENST00000467818, ENST00000472587, ENST00000496783
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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
Medium 1034 556 1013 174 854 39 2395 646 1212 209 366 1204 139 1 1014 1358 3 2
Low 1374 2422 674 416 1023 391 1877 1529 2483 180 1059 345 32 190 1424 3
Below cutoff 30 13 38 33 69 34 78 20 38 28 35 62 3 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB038161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF323660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF323661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF323662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF323663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF323664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ289137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY048757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343687   ⟹   ENSP00000339744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,219,821 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000347800   ⟹   ENSP00000291524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,216,077 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000361802   ⟹   ENSP00000354995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,219,118 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000398437   ⟹   ENSP00000381464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,256,084 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000398449   ⟹   ENSP00000381467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,219,118 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000398457   ⟹   ENSP00000381475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,199,689 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000450121   ⟹   ENSP00000414541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,219,117 - 42,284,648 (+)Ensembl
RefSeq Acc Id: ENST00000462050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,199,812 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000467818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,276,686 - 42,286,141 (+)Ensembl
RefSeq Acc Id: ENST00000472587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,276,344 - 42,297,244 (+)Ensembl
RefSeq Acc Id: ENST00000496783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2142,285,934 - 42,295,352 (+)Ensembl
RefSeq Acc Id: NM_004915   ⟹   NP_004906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,219,140 - 42,297,244 (+)NCBI
GRCh372143,619,799 - 43,724,497 (+)NCBI
Build 362142,512,336 - 42,590,423 (+)NCBI Archive
HuRef2129,038,262 - 29,134,637 (+)ENTREZGENE
CHM1_12143,200,096 - 43,277,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016818   ⟹   NP_058198
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,219,140 - 42,297,244 (+)NCBI
GRCh372143,619,799 - 43,724,497 (+)NCBI
Build 362142,512,336 - 42,590,423 (+)NCBI Archive
HuRef2129,038,262 - 29,134,637 (+)ENTREZGENE
CHM1_12143,200,096 - 43,277,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207174   ⟹   NP_997057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,219,898 - 42,297,244 (+)NCBI
GRCh372143,619,799 - 43,724,497 (+)NCBI
Build 362142,513,077 - 42,590,423 (+)NCBI Archive
HuRef2129,038,262 - 29,134,637 (+)ENTREZGENE
CHM1_12143,200,837 - 43,277,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207627   ⟹   NP_997510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,199,689 - 42,297,244 (+)NCBI
GRCh372143,619,799 - 43,724,497 (+)NCBI
Build 362142,492,868 - 42,590,423 (+)NCBI Archive
HuRef2129,038,262 - 29,134,637 (+)ENTREZGENE
CHM1_12143,180,637 - 43,277,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207628   ⟹   NP_997511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,199,812 - 42,297,244 (+)NCBI
GRCh372143,619,799 - 43,724,497 (+)NCBI
Build 362142,492,991 - 42,590,423 (+)NCBI Archive
HuRef2129,038,262 - 29,134,637 (+)ENTREZGENE
CHM1_12143,180,760 - 43,277,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207629   ⟹   NP_997512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,216,077 - 42,297,244 (+)NCBI
GRCh372143,619,799 - 43,724,497 (+)NCBI
Build 362142,509,256 - 42,590,423 (+)NCBI Archive
HuRef2129,038,262 - 29,134,637 (+)ENTREZGENE
CHM1_12143,197,022 - 43,277,563 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529806   ⟹   XP_011528108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,219,821 - 42,304,387 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529807   ⟹   XP_011528109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,219,821 - 42,304,387 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452141   ⟹   XP_024307909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,256,334 - 42,304,387 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_997510   ⟸   NM_207627
- Peptide Label: isoform 5
- UniProtKB: P45844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997511   ⟸   NM_207628
- Peptide Label: isoform 6
- UniProtKB: P45844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997512   ⟸   NM_207629
- Peptide Label: isoform 7
- UniProtKB: P45844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004906   ⟸   NM_004915
- Peptide Label: isoform 4
- UniProtKB: P45844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_058198   ⟸   NM_016818
- Peptide Label: isoform 2
- UniProtKB: P45844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997057   ⟸   NM_207174
- Peptide Label: isoform 3
- UniProtKB: P45844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528109   ⟸   XM_011529807
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011528108   ⟸   XM_011529806
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024307909   ⟸   XM_024452141
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000381475   ⟸   ENST00000398457
RefSeq Acc Id: ENSP00000381467   ⟸   ENST00000398449
RefSeq Acc Id: ENSP00000381464   ⟸   ENST00000398437
RefSeq Acc Id: ENSP00000414541   ⟸   ENST00000450121
RefSeq Acc Id: ENSP00000291524   ⟸   ENST00000347800
RefSeq Acc Id: ENSP00000354995   ⟸   ENST00000361802
RefSeq Acc Id: ENSP00000339744   ⟸   ENST00000343687
Promoters
RGD ID:13602912
Promoter ID:EPDNEW_H27640
Type:multiple initiation site
Name:ABCG1_2
Description:ATP binding cassette subfamily G member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27641  EPDNEW_H27642  EPDNEW_H27643  EPDNEW_H27644  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,199,689 - 42,199,749EPDNEW
RGD ID:13602914
Promoter ID:EPDNEW_H27641
Type:single initiation site
Name:ABCG1_4
Description:ATP binding cassette subfamily G member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27640  EPDNEW_H27642  EPDNEW_H27643  EPDNEW_H27644  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,216,109 - 42,216,169EPDNEW
RGD ID:13602916
Promoter ID:EPDNEW_H27642
Type:initiation region
Name:ABCG1_1
Description:ATP binding cassette subfamily G member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27640  EPDNEW_H27641  EPDNEW_H27643  EPDNEW_H27644  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,219,140 - 42,219,200EPDNEW
RGD ID:13602918
Promoter ID:EPDNEW_H27643
Type:initiation region
Name:ABCG1_5
Description:ATP binding cassette subfamily G member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27640  EPDNEW_H27641  EPDNEW_H27642  EPDNEW_H27644  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,219,797 - 42,219,857EPDNEW
RGD ID:13602920
Promoter ID:EPDNEW_H27644
Type:multiple initiation site
Name:ABCG1_3
Description:ATP binding cassette subfamily G member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27640  EPDNEW_H27641  EPDNEW_H27642  EPDNEW_H27643  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,255,984 - 42,256,044EPDNEW
RGD ID:6799221
Promoter ID:HG_KWN:41021
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_207627,   UC002ZAM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,492,636 - 42,493,287 (+)MPROMDB
RGD ID:6799226
Promoter ID:HG_KWN:41023
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000398449,   OTTHUMT00000195318,   OTTHUMT00000195322
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,512,136 - 42,512,636 (+)MPROMDB
RGD ID:6799222
Promoter ID:HG_KWN:41024
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000195317
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,512,171 - 42,513,347 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_004915.3(ABCG1):c.1822G>A (p.Gly608Arg) single nucleotide variant Malignant melanoma [RCV000072849] Chr21:42296177 [GRCh38]
Chr21:43716287 [GRCh37]
Chr21:42589356 [NCBI36]
Chr21:21q22.3
not provided
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3 copy number gain See cases [RCV000143383] Chr21:41368412..42556043 [GRCh38]
Chr21:42740339..43976153 [GRCh37]
Chr21:41662209..42849222 [NCBI36]
Chr21:21q22.3
likely benign|uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 copy number gain See cases [RCV000239953] Chr21:39841248..44652723 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1 copy number loss See cases [RCV000446516] Chr21:38790552..43619940 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43690022-43743467)x3 copy number gain See cases [RCV000448810] Chr21:43690022..43743467 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43415139-43845652)x3 copy number gain not provided [RCV000684144] Chr21:43415139..43845652 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 copy number loss not provided [RCV000741567] Chr21:40364245..44169928 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43638544-43658979)x1 copy number loss not provided [RCV000741589] Chr21:43638544..43658979 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43700432-43704327)x0 copy number loss not provided [RCV000741590] Chr21:43700432..43704327 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_207174.1(ABCG1):c.480C>G (p.Pro160=) single nucleotide variant not provided [RCV000883573] Chr21:42273345 [GRCh38]
Chr21:43693455 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787405] Chr21:42300424..43682911 [GRCh37]
Chr21:21q22.2-22.3
uncertain significance
NM_207174.1(ABCG1):c.1674C>T (p.Ser558=) single nucleotide variant not provided [RCV000917579] Chr21:42291644 [GRCh38]
Chr21:43711754 [GRCh37]
Chr21:21q22.3
benign
NM_207174.1(ABCG1):c.1962C>T (p.Leu654=) single nucleotide variant not provided [RCV000916453] Chr21:42296320 [GRCh38]
Chr21:43716430 [GRCh37]
Chr21:21q22.3
likely benign
NM_207174.1(ABCG1):c.319+4G>A single nucleotide variant not provided [RCV000892314] Chr21:42225918 [GRCh38]
Chr21:43646028 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
NM_207174.1(ABCG1):c.1401G>C (p.Ala467=) single nucleotide variant not provided [RCV000968412] Chr21:42290193 [GRCh38]
Chr21:43710303 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:73 AgrOrtholog
COSMIC ABCG1 COSMIC
Ensembl Genes ENSG00000160179 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000291524 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000339744 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354995 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381464 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000381467 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000414541 UniProtKB/TrEMBL
Ensembl Transcript ENST00000343687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000347800 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361802 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398437 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000398449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398457 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450121 UniProtKB/TrEMBL
  ENST00000462050 ENTREZGENE
GTEx ENSG00000160179 GTEx
HGNC ID HGNC:73 ENTREZGENE
Human Proteome Map ABCG1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_2_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCG_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pigment_permease/Abcg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9619 UniProtKB/Swiss-Prot
NCBI Gene 9619 ENTREZGENE
OMIM 603076 OMIM
Pfam ABC2_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC2_membrane_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24408 PharmGKB
PROSITE ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs 3a01204 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.124649 ENTREZGENE
  Hs.418279 ENTREZGENE
UniProt ABCG1_HUMAN UniProtKB/Swiss-Prot
  C9JKD9_HUMAN UniProtKB/TrEMBL
  E9PGV9_HUMAN UniProtKB/TrEMBL
  P45844 ENTREZGENE
UniProt Secondary Q86SU8 UniProtKB/Swiss-Prot
  Q96L76 UniProtKB/Swiss-Prot
  Q9BXK6 UniProtKB/Swiss-Prot
  Q9BXK7 UniProtKB/Swiss-Prot
  Q9BXK8 UniProtKB/Swiss-Prot
  Q9BXK9 UniProtKB/Swiss-Prot
  Q9BXL0 UniProtKB/Swiss-Prot
  Q9BXL1 UniProtKB/Swiss-Prot
  Q9BXL2 UniProtKB/Swiss-Prot
  Q9BXL3 UniProtKB/Swiss-Prot
  Q9BXL4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCG1  ATP binding cassette subfamily G member 1    ATP-binding cassette, sub-family G (WHITE), member 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 ABCG1  ATP-binding cassette, sub-family G (WHITE), member 1  ABCG1  ATP-binding cassette, sub-family G (WHITE), member 1  Symbol and/or name change 5135510 APPROVED