ABCA5 (ATP binding cassette subfamily A member 5) - Rat Genome Database

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Gene: ABCA5 (ATP binding cassette subfamily A member 5) Homo sapiens
Analyze
Symbol: ABCA5
Name: ATP binding cassette subfamily A member 5
RGD ID: 1300038
HGNC Page HGNC:35
Description: Predicted to enable ATPase-coupled transmembrane transporter activity and lipid transporter activity. Involved in cholesterol homeostasis; cholesterol metabolic process; and regulation of cholesterol efflux. Predicted to be located in lysosome. Predicted to be active in late endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC13; ATP-binding cassette A5; ATP-binding cassette sub-family A member 5; ATP-binding cassette, sub-family A (ABC1), member 5; cholesterol transporter ABCA5; DKFZp451F117; DKFZp779N2435; EST90625; FLJ16381; HTC3
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
GRCh381769,244,311 - 69,327,133 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1769,244,311 - 69,327,244 (-)EnsemblGRCh38hg38GRCh38
GRCh371767,240,452 - 67,323,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,754,386 - 64,834,885 (-)NCBINCBI36Build 36hg18NCBI36
Build 341764,754,386 - 64,834,885NCBI
Celera1763,812,102 - 63,894,875 (-)NCBICelera
Cytogenetic Map17q24.3NCBI
HuRef1762,625,936 - 62,708,949 (-)NCBIHuRef
CHM1_11767,305,073 - 67,387,811 (-)NCBICHM1_1
T2T-CHM13v2.01770,120,918 - 70,203,761 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
choline  (ISO)
clorgyline  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fonofos  (EXP)
furan  (ISO)
gallic acid  (EXP)
genistein  (ISO)
gentamycin  (ISO)
L-methionine  (ISO)
linsidomine  (ISO)
maneb  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
ozone  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
phenethyl caffeate  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
terbufos  (EXP)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Subcellular localisation of rAbca5, a rat ATP-binding cassette transporter expressed in Leydig cells, and characterisation of its splice variant apparently encoding a half-transporter. Petry F, etal., Biochem J 2005 Sep 14;.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8894702   PMID:11435397   PMID:11572484   PMID:12477932   PMID:12504089   PMID:14702039   PMID:15870284   PMID:16344560   PMID:17289887   PMID:17541169   PMID:18676680   PMID:19170196  
PMID:19343046   PMID:19625176   PMID:19692168   PMID:20382126   PMID:20487690   PMID:21873635   PMID:21988832   PMID:22190034   PMID:22870217   PMID:23939407   PMID:24831815   PMID:25125465  
PMID:27197753   PMID:32687853   PMID:33404706   PMID:33961781   PMID:35150007   PMID:36042349   PMID:37348644  


Genomics

Comparative Map Data
ABCA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381769,244,311 - 69,327,133 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1769,244,311 - 69,327,244 (-)EnsemblGRCh38hg38GRCh38
GRCh371767,240,452 - 67,323,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,754,386 - 64,834,885 (-)NCBINCBI36Build 36hg18NCBI36
Build 341764,754,386 - 64,834,885NCBI
Celera1763,812,102 - 63,894,875 (-)NCBICelera
Cytogenetic Map17q24.3NCBI
HuRef1762,625,936 - 62,708,949 (-)NCBIHuRef
CHM1_11767,305,073 - 67,387,811 (-)NCBICHM1_1
T2T-CHM13v2.01770,120,918 - 70,203,761 (-)NCBIT2T-CHM13v2.0
Abca5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911110,160,195 - 110,228,542 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11110,160,195 - 110,228,542 (-)EnsemblGRCm39 Ensembl
GRCm3811110,269,369 - 110,337,723 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11110,269,369 - 110,337,716 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711110,130,683 - 110,199,030 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611110,088,340 - 110,153,765 (-)NCBIMGSCv36mm8
Celera11122,007,376 - 122,077,299 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1173.53NCBI
Abca5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81095,739,610 - 95,808,633 (-)NCBIGRCr8
mRatBN7.21095,240,159 - 95,309,195 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1095,240,154 - 95,308,976 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10100,294,252 - 100,362,644 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01099,757,272 - 99,825,665 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01095,165,548 - 95,233,940 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01098,573,226 - 98,645,028 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1098,576,039 - 98,644,938 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01098,279,926 - 98,351,693 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41099,724,778 - 99,793,593 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11099,739,147 - 99,807,963 (-)NCBI
Celera1093,891,432 - 93,960,222 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Abca5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554783,519,368 - 3,586,811 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554783,526,376 - 3,586,811 (+)NCBIChiLan1.0ChiLan1.0
ABCA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21985,266,810 - 85,348,381 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11790,087,682 - 90,169,309 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01763,172,670 - 63,255,587 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11768,560,610 - 68,642,471 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1768,563,702 - 68,629,791 (-)Ensemblpanpan1.1panPan2
ABCA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1915,708,070 - 15,781,100 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl915,420,835 - 15,783,045 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha916,600,274 - 16,672,802 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0917,369,465 - 17,442,894 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl917,369,925 - 17,442,845 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1916,313,793 - 16,386,862 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0911,147,500 - 11,219,940 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0911,146,365 - 11,219,543 (+)NCBIUU_Cfam_GSD_1.0
Abca5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560210,632,645 - 10,730,283 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365418,463,436 - 8,539,942 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365418,467,035 - 8,549,893 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCA5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1211,067,500 - 11,152,688 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11211,018,692 - 11,152,916 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21211,331,441 - 11,338,746 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCA5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11652,278,563 - 52,373,218 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1652,278,573 - 52,362,273 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607723,173,583 - 23,258,733 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abca5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248704,153,594 - 4,218,132 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248704,150,287 - 4,224,448 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCA5
101 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1 copy number loss See cases [RCV000053452] Chr17:67833866..70085854 [GRCh38]
Chr17:65829982..68081995 [GRCh37]
Chr17:63260444..65593590 [NCBI36]
Chr17:17q24.2-24.3		 pathogenic
NM_172232.3(ABCA5):c.733G>A (p.Glu245Lys) single nucleotide variant Malignant melanoma [RCV000063288] Chr17:69306780 [GRCh38]
Chr17:67302921 [GRCh37]
Chr17:64814516 [NCBI36]
Chr17:17q24.3		 not provided
NM_172232.4(ABCA5):c.4320+1G>C single nucleotide variant Gingival fibromatosis-hypertrichosis syndrome [RCV000128545]|Inborn genetic diseases [RCV000210729] Chr17:69253793 [GRCh38]
Chr17:67249934 [GRCh37]
Chr17:17q24.3		 pathogenic|likely pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 copy number loss See cases [RCV000143113] Chr17:68420514..71351235 [GRCh38]
Chr17:66416655..69347376 [GRCh37]
Chr17:63928250..66858971 [NCBI36]
Chr17:17q24.2-24.3		 pathogenic
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 copy number gain See cases [RCV000446484] Chr17:65343022..69344022 [GRCh37]
Chr17:17q24.2-24.3		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_172232.4(ABCA5):c.1936G>T (p.Asp646Tyr) single nucleotide variant Inborn genetic diseases [RCV003242567] Chr17:69287718 [GRCh38]
Chr17:67283859 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2509A>G (p.Met837Val) single nucleotide variant Inborn genetic diseases [RCV003264797] Chr17:69277726 [GRCh38]
Chr17:67273867 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.743T>A (p.Ile248Lys) single nucleotide variant Inborn genetic diseases [RCV003304522] Chr17:69306770 [GRCh38]
Chr17:67302911 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4760A>G (p.Glu1587Gly) single nucleotide variant Inborn genetic diseases [RCV003259305] Chr17:69249910 [GRCh38]
Chr17:67246051 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2782C>G (p.Leu928Val) single nucleotide variant Inborn genetic diseases [RCV003285679] Chr17:69271272 [GRCh38]
Chr17:67267413 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1513T>C (p.Tyr505His) single nucleotide variant Inborn genetic diseases [RCV003255479] Chr17:69291309 [GRCh38]
Chr17:67287450 [GRCh37]
Chr17:17q24.3		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q24.3(chr17:67131934-67321879)x3 copy number gain not provided [RCV000683955] Chr17:67131934..67321879 [GRCh37]
Chr17:17q24.3		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_172232.4(ABCA5):c.3966T>C (p.Cys1322=) single nucleotide variant not provided [RCV000879841] Chr17:69255743 [GRCh38]
Chr17:67251884 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.3943G>A (p.Ala1315Thr) single nucleotide variant not provided [RCV000905562] Chr17:69255766 [GRCh38]
Chr17:67251907 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3517A>G (p.Ile1173Val) single nucleotide variant not provided [RCV000905564] Chr17:69261172 [GRCh38]
Chr17:67257313 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.4535+7G>A single nucleotide variant not provided [RCV000899633] Chr17:69251740 [GRCh38]
Chr17:67247881 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.2449G>T (p.Asp817Tyr) single nucleotide variant not provided [RCV000880908] Chr17:69277786 [GRCh38]
Chr17:67273927 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.2655T>C (p.Ser885=) single nucleotide variant ABCA5-related condition [RCV003922968]|not provided [RCV000901165] Chr17:69274068 [GRCh38]
Chr17:67270209 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.3267G>A (p.Leu1089=) single nucleotide variant not provided [RCV000921753] Chr17:69264783 [GRCh38]
Chr17:67260924 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.961T>C (p.Phe321Leu) single nucleotide variant ABCA5-related condition [RCV003913060]|not provided [RCV000915484] Chr17:69302876 [GRCh38]
Chr17:67299017 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.1062G>A (p.Ser354=) single nucleotide variant ABCA5-related condition [RCV003910720]|not provided [RCV000899537] Chr17:69302775 [GRCh38]
Chr17:67298916 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1056C>T (p.Pro352=) single nucleotide variant not provided [RCV000919300] Chr17:69302781 [GRCh38]
Chr17:67298922 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1584T>C (p.Cys528=) single nucleotide variant not provided [RCV000886552] Chr17:69291238 [GRCh38]
Chr17:67287379 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.2073G>A (p.Leu691=) single nucleotide variant not provided [RCV000980943] Chr17:69286280 [GRCh38]
Chr17:67282421 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.781G>T (p.Ala261Ser) single nucleotide variant not provided [RCV000888210] Chr17:69306732 [GRCh38]
Chr17:67302873 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.293A>G (p.Asp98Gly) single nucleotide variant Inborn genetic diseases [RCV003270573] Chr17:69313106 [GRCh38]
Chr17:67309247 [GRCh37]
Chr17:17q24.3		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_172232.4(ABCA5):c.1485G>A (p.Glu495=) single nucleotide variant not provided [RCV000894940] Chr17:69294665 [GRCh38]
Chr17:67290806 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1512A>G (p.Ile504Met) single nucleotide variant Inborn genetic diseases [RCV003246543] Chr17:69291310 [GRCh38]
Chr17:67287451 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1946C>T (p.Ser649Phe) single nucleotide variant Inborn genetic diseases [RCV003291819] Chr17:69287708 [GRCh38]
Chr17:67283849 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2595-8C>T single nucleotide variant not provided [RCV000949407] Chr17:69274136 [GRCh38]
Chr17:67270277 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.384T>C (p.Gly128=) single nucleotide variant ABCA5-related condition [RCV003913005]|not provided [RCV000910606] Chr17:69309347 [GRCh38]
Chr17:67305488 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.2537C>A (p.Thr846Lys) single nucleotide variant not provided [RCV000887241] Chr17:69277698 [GRCh38]
Chr17:67273839 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3475G>A (p.Gly1159Arg) single nucleotide variant not provided [RCV000955218] Chr17:69261214 [GRCh38]
Chr17:67257355 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1120-9A>G single nucleotide variant not provided [RCV000896297] Chr17:69301295 [GRCh38]
Chr17:67297436 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1479T>C (p.Asn493=) single nucleotide variant not provided [RCV000974479] Chr17:69294671 [GRCh38]
Chr17:67290812 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1233C>T (p.Val411=) single nucleotide variant not provided [RCV000929842] Chr17:69301173 [GRCh38]
Chr17:67297314 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.2612T>C (p.Ile871Thr) single nucleotide variant ABCA5-related condition [RCV003903212]|See cases [RCV002252271]|not provided [RCV000950825] Chr17:69274111 [GRCh38]
Chr17:67270252 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.353C>T (p.Ser118Phe) single nucleotide variant ABCA5-related condition [RCV003913061]|not provided [RCV000915485] Chr17:69309378 [GRCh38]
Chr17:67305519 [GRCh37]
Chr17:17q24.3		 benign|likely benign
NM_172232.4(ABCA5):c.2956A>G (p.Ile986Val) single nucleotide variant not provided [RCV000911439] Chr17:69270687 [GRCh38]
Chr17:67266828 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.2302A>G (p.Asn768Asp) single nucleotide variant ABCA5-related condition [RCV003903321]|not provided [RCV000958228] Chr17:69284043 [GRCh38]
Chr17:67280184 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.1405T>G (p.Ser469Ala) single nucleotide variant ABCA5-related condition [RCV003903322]|not provided [RCV000958229] Chr17:69297222 [GRCh38]
Chr17:67293363 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.308-5T>C single nucleotide variant ABCA5-related condition [RCV003932992]|not provided [RCV000911806] Chr17:69309428 [GRCh38]
Chr17:67305569 [GRCh37]
Chr17:17q24.3		 likely benign
GRCh37/hg19 17q24.2-24.3(chr17:66531148-67241132)x3 copy number gain not provided [RCV001259903] Chr17:66531148..67241132 [GRCh37]
Chr17:17q24.2-24.3		 uncertain significance
NM_172232.4(ABCA5):c.569A>G (p.Asn190Ser) single nucleotide variant Gingival fibromatosis-hypertrichosis syndrome [RCV001262669] Chr17:69306944 [GRCh38]
Chr17:67303085 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1951C>T (p.His651Tyr) single nucleotide variant Inborn genetic diseases [RCV002547667]|not provided [RCV001357600] Chr17:69287703 [GRCh38]
Chr17:67283844 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2167_2168del (p.Leu723fs) microsatellite See cases [RCV002252554] Chr17:69286002..69286003 [GRCh38]
Chr17:67282143..67282144 [GRCh37]
Chr17:17q24.3		 likely pathogenic
NM_172232.4(ABCA5):c.3429+39G>C single nucleotide variant not provided [RCV002224589] Chr17:69261596 [GRCh38]
Chr17:67257737 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1231G>A (p.Val411Ile) single nucleotide variant Inborn genetic diseases [RCV003253336] Chr17:69301175 [GRCh38]
Chr17:67297316 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3278A>G (p.Tyr1093Cys) single nucleotide variant Inborn genetic diseases [RCV002901997] Chr17:69264772 [GRCh38]
Chr17:67260913 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3170T>G (p.Leu1057Arg) single nucleotide variant Inborn genetic diseases [RCV002907279] Chr17:69264880 [GRCh38]
Chr17:67261021 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4901G>A (p.Arg1634Gln) single nucleotide variant Inborn genetic diseases [RCV002882705] Chr17:69247565 [GRCh38]
Chr17:67243706 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2740A>G (p.Ser914Gly) single nucleotide variant Inborn genetic diseases [RCV002879639] Chr17:69273983 [GRCh38]
Chr17:67270124 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1823A>G (p.Lys608Arg) single nucleotide variant Inborn genetic diseases [RCV002840139] Chr17:69289256 [GRCh38]
Chr17:67285397 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1309C>G (p.Pro437Ala) single nucleotide variant Inborn genetic diseases [RCV002974305] Chr17:69297318 [GRCh38]
Chr17:67293459 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2519G>C (p.Trp840Ser) single nucleotide variant Inborn genetic diseases [RCV002888880] Chr17:69277716 [GRCh38]
Chr17:67273857 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.913C>T (p.Leu305Phe) single nucleotide variant Inborn genetic diseases [RCV002821455] Chr17:69304686 [GRCh38]
Chr17:67300827 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4530G>C (p.Gln1510His) single nucleotide variant Inborn genetic diseases [RCV002869592] Chr17:69251752 [GRCh38]
Chr17:67247893 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4381A>G (p.Thr1461Ala) single nucleotide variant Inborn genetic diseases [RCV002910991] Chr17:69253607 [GRCh38]
Chr17:67249748 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4589T>G (p.Leu1530Trp) single nucleotide variant Inborn genetic diseases [RCV002887094] Chr17:69250568 [GRCh38]
Chr17:67246709 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1784T>C (p.Val595Ala) single nucleotide variant Inborn genetic diseases [RCV002693676] Chr17:69289295 [GRCh38]
Chr17:67285436 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3274C>A (p.His1092Asn) single nucleotide variant Inborn genetic diseases [RCV002951234] Chr17:69264776 [GRCh38]
Chr17:67260917 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3123G>A (p.Met1041Ile) single nucleotide variant Inborn genetic diseases [RCV002925092] Chr17:69267964 [GRCh38]
Chr17:67264105 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4007G>A (p.Gly1336Asp) single nucleotide variant Inborn genetic diseases [RCV002704072] Chr17:69255604 [GRCh38]
Chr17:67251745 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.170A>C (p.Lys57Thr) single nucleotide variant Inborn genetic diseases [RCV002694554] Chr17:69313229 [GRCh38]
Chr17:67309370 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1024G>A (p.Gly342Ser) single nucleotide variant Inborn genetic diseases [RCV002798056] Chr17:69302813 [GRCh38]
Chr17:67298954 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1006G>A (p.Val336Met) single nucleotide variant Inborn genetic diseases [RCV002661126] Chr17:69302831 [GRCh38]
Chr17:67298972 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.832T>C (p.Ser278Pro) single nucleotide variant Inborn genetic diseases [RCV002782814] Chr17:69304767 [GRCh38]
Chr17:67300908 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.767G>T (p.Gly256Val) single nucleotide variant Inborn genetic diseases [RCV002929711] Chr17:69306746 [GRCh38]
Chr17:67302887 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3091A>G (p.Ile1031Val) single nucleotide variant Inborn genetic diseases [RCV002708543] Chr17:69267996 [GRCh38]
Chr17:67264137 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2237A>G (p.Tyr746Cys) single nucleotide variant Inborn genetic diseases [RCV002802567] Chr17:69285933 [GRCh38]
Chr17:67282074 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4663C>T (p.Pro1555Ser) single nucleotide variant Inborn genetic diseases [RCV002985835] Chr17:69250494 [GRCh38]
Chr17:67246635 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2038G>T (p.Ala680Ser) single nucleotide variant Inborn genetic diseases [RCV002698259] Chr17:69287616 [GRCh38]
Chr17:67283757 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4783A>G (p.Ile1595Val) single nucleotide variant Inborn genetic diseases [RCV002982043] Chr17:69248300 [GRCh38]
Chr17:67244441 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4204A>C (p.Lys1402Gln) single nucleotide variant Inborn genetic diseases [RCV002665769] Chr17:69254355 [GRCh38]
Chr17:67250496 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.7A>G (p.Thr3Ala) single nucleotide variant Inborn genetic diseases [RCV002879013] Chr17:69314409 [GRCh38]
Chr17:67310550 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3316G>A (p.Val1106Ile) single nucleotide variant Inborn genetic diseases [RCV002747910] Chr17:69261748 [GRCh38]
Chr17:67257889 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4633C>T (p.Arg1545Cys) single nucleotide variant Inborn genetic diseases [RCV002961295] Chr17:69250524 [GRCh38]
Chr17:67246665 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3053A>C (p.Lys1018Thr) single nucleotide variant Inborn genetic diseases [RCV002713964] Chr17:69268034 [GRCh38]
Chr17:67264175 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2819C>T (p.Thr940Met) single nucleotide variant Inborn genetic diseases [RCV002674680] Chr17:69271235 [GRCh38]
Chr17:67267376 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3110C>T (p.Pro1037Leu) single nucleotide variant Inborn genetic diseases [RCV002792978] Chr17:69267977 [GRCh38]
Chr17:67264118 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3355T>C (p.Phe1119Leu) single nucleotide variant Inborn genetic diseases [RCV002677905] Chr17:69261709 [GRCh38]
Chr17:67257850 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4339A>G (p.Met1447Val) single nucleotide variant Inborn genetic diseases [RCV002657088] Chr17:69253649 [GRCh38]
Chr17:67249790 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1151C>G (p.Ala384Gly) single nucleotide variant Inborn genetic diseases [RCV003254652] Chr17:69301255 [GRCh38]
Chr17:67297396 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1747A>G (p.Ile583Val) single nucleotide variant Inborn genetic diseases [RCV003257133] Chr17:69289897 [GRCh38]
Chr17:67286038 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.601A>G (p.Lys201Glu) single nucleotide variant Inborn genetic diseases [RCV003203389] Chr17:69306912 [GRCh38]
Chr17:67303053 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4234G>C (p.Val1412Leu) single nucleotide variant Inborn genetic diseases [RCV003184934] Chr17:69254325 [GRCh38]
Chr17:67250466 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4901G>C (p.Arg1634Pro) single nucleotide variant Inborn genetic diseases [RCV003193975] Chr17:69247565 [GRCh38]
Chr17:67243706 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4589T>C (p.Leu1530Ser) single nucleotide variant Inborn genetic diseases [RCV003213386] Chr17:69250568 [GRCh38]
Chr17:67246709 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.1343A>G (p.Glu448Gly) single nucleotide variant Inborn genetic diseases [RCV003215666] Chr17:69297284 [GRCh38]
Chr17:67293425 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.3500A>G (p.His1167Arg) single nucleotide variant Inborn genetic diseases [RCV003190774] Chr17:69261189 [GRCh38]
Chr17:67257330 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.2802C>G (p.Ser934Arg) single nucleotide variant Inborn genetic diseases [RCV003286108] Chr17:69271252 [GRCh38]
Chr17:67267393 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.434T>C (p.Met145Thr) single nucleotide variant Inborn genetic diseases [RCV003351797] Chr17:69309297 [GRCh38]
Chr17:67305438 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.442G>A (p.Val148Ile) single nucleotide variant Inborn genetic diseases [RCV003351167] Chr17:69309289 [GRCh38]
Chr17:67305430 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.508T>G (p.Ser170Ala) single nucleotide variant Inborn genetic diseases [RCV003384470] Chr17:69308330 [GRCh38]
Chr17:67304471 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.269G>A (p.Ser90Asn) single nucleotide variant Inborn genetic diseases [RCV003349243] Chr17:69313130 [GRCh38]
Chr17:67309271 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3707C>T (p.Ser1236Leu) single nucleotide variant Inborn genetic diseases [RCV003366586] Chr17:69259730 [GRCh38]
Chr17:67255871 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.309C>T (p.Val103=) single nucleotide variant not provided [RCV003428432] Chr17:69309422 [GRCh38]
Chr17:67305563 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3144+4dup duplication ABCA5-related condition [RCV003939354] Chr17:69267938..69267939 [GRCh38]
Chr17:67264079..67264080 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3393A>G (p.Leu1131=) single nucleotide variant ABCA5-related condition [RCV003973965] Chr17:69261671 [GRCh38]
Chr17:67257812 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.1451A>G (p.Gln484Arg) single nucleotide variant ABCA5-related condition [RCV003974411] Chr17:69294699 [GRCh38]
Chr17:67290840 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.4415+3G>A single nucleotide variant ABCA5-related condition [RCV003914237] Chr17:69253570 [GRCh38]
Chr17:67249711 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3549G>A (p.Leu1183=) single nucleotide variant ABCA5-related condition [RCV003979273] Chr17:69261140 [GRCh38]
Chr17:67257281 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.2337G>A (p.Thr779=) single nucleotide variant ABCA5-related condition [RCV003961421] Chr17:69284008 [GRCh38]
Chr17:67280149 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.4521G>A (p.Val1507=) single nucleotide variant ABCA5-related condition [RCV003941775] Chr17:69251761 [GRCh38]
Chr17:67247902 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3265T>C (p.Leu1089=) single nucleotide variant ABCA5-related condition [RCV003982248] Chr17:69264785 [GRCh38]
Chr17:67260926 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.4332T>G (p.Ala1444=) single nucleotide variant ABCA5-related condition [RCV003961961] Chr17:69253656 [GRCh38]
Chr17:67249797 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.788+8A>C single nucleotide variant ABCA5-related condition [RCV003927362] Chr17:69306717 [GRCh38]
Chr17:67302858 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.2595-9del deletion ABCA5-related condition [RCV003951425] Chr17:69274137 [GRCh38]
Chr17:67270278 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3859-4T>C single nucleotide variant ABCA5-related condition [RCV003984689] Chr17:69255854 [GRCh38]
Chr17:67251995 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.532G>A (p.Ala178Thr) single nucleotide variant ABCA5-related condition [RCV003974381] Chr17:69308306 [GRCh38]
Chr17:67304447 [GRCh37]
Chr17:17q24.3		 benign
NM_172232.4(ABCA5):c.3743C>T (p.Thr1248Met) single nucleotide variant ABCA5-related condition [RCV003929709] Chr17:69256272 [GRCh38]
Chr17:67252413 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.1663A>C (p.Arg555=) single nucleotide variant ABCA5-related condition [RCV003949433] Chr17:69289981 [GRCh38]
Chr17:67286122 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.48A>G (p.Thr16=) single nucleotide variant ABCA5-related condition [RCV003954748] Chr17:69314368 [GRCh38]
Chr17:67310509 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.4258C>T (p.Leu1420Phe) single nucleotide variant Inborn genetic diseases [RCV003344684] Chr17:69253856 [GRCh38]
Chr17:67249997 [GRCh37]
Chr17:17q24.3		 uncertain significance
NM_172232.4(ABCA5):c.4765+3A>G single nucleotide variant not provided [RCV000905561] Chr17:69249902 [GRCh38]
Chr17:67246043 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.3778G>A (p.Asp1260Asn) single nucleotide variant not provided [RCV000905563] Chr17:69256237 [GRCh38]
Chr17:67252378 [GRCh37]
Chr17:17q24.3		 likely benign
NM_172232.4(ABCA5):c.2569C>T (p.Arg857Cys) single nucleotide variant Gingival fibromatosis-hypertrichosis syndrome [RCV003156049] Chr17:69277666 [GRCh38]
Chr17:67273807 [GRCh37]
Chr17:17q24.3		 likely pathogenic
NM_172232.4(ABCA5):c.1824A>T (p.Lys608Asn) single nucleotide variant Inborn genetic diseases [RCV003357265] Chr17:69289255 [GRCh38]
Chr17:67285396 [GRCh37]
Chr17:17q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4939
Count of miRNA genes:1144
Interacting mature miRNAs:1420
Transcripts:ENST00000392676, ENST00000392677, ENST00000586601, ENST00000586811, ENST00000586995, ENST00000587607, ENST00000588106, ENST00000588665, ENST00000588877, ENST00000589609, ENST00000589975, ENST00000591234, ENST00000592568, ENST00000593153, ENST00000593253
Prediction methods:Microtar, Miranda, Pita, 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.

Markers in Region
RH121643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371767,245,700 - 67,246,093UniSTSGRCh37
GRCh371767,245,700 - 67,246,007UniSTSGRCh37
Build 361764,757,295 - 64,757,602RGDNCBI36
Celera1763,817,225 - 63,817,618UniSTS
Celera1763,817,225 - 63,817,532RGD
Cytogenetic Map17q24.3UniSTS
HuRef1762,631,059 - 62,631,366UniSTS
HuRef1762,631,059 - 62,631,452UniSTS
TNG Radiation Hybrid Map1730591.0UniSTS
STS-W32872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371767,243,318 - 67,243,484UniSTSGRCh37
Build 361764,754,913 - 64,755,079RGDNCBI36
Celera1763,814,843 - 63,815,009RGD
Cytogenetic Map17q24.3UniSTS
HuRef1762,628,677 - 62,628,843UniSTS
GeneMap99-GB4 RH Map17440.65UniSTS
ABCA5_2603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371767,243,049 - 67,243,844UniSTSGRCh37
Build 361764,754,644 - 64,755,439RGDNCBI36
Celera1763,814,574 - 63,815,369RGD
HuRef1762,628,408 - 62,629,203UniSTS
RH12485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371767,243,572 - 67,243,732UniSTSGRCh37
Build 361764,755,167 - 64,755,327RGDNCBI36
Celera1763,815,097 - 63,815,257RGD
Cytogenetic Map17q24.3UniSTS
HuRef1762,628,931 - 62,629,091UniSTS
GeneMap99-GB4 RH Map17440.43UniSTS
D10S16   No map positions available.
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
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
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


RNA-SEQ Expression
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 adipose tissue appendage entire extraembryonic component
High
Medium 758 365 1282 398 617 281 3517 988 1465 76 973 751 117 921 2298
Low 1663 2386 437 222 1058 180 817 1195 2209 331 457 839 52 282 490 4
Below cutoff 9 233 4 2 252 3 20 7 24 10 14 15 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ275973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ512612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF448717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB096625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000392676   ⟹   ENSP00000376443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,244,311 - 69,327,133 (-)Ensembl
RefSeq Acc Id: ENST00000586601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,247,376 - 69,249,141 (-)Ensembl
RefSeq Acc Id: ENST00000586811   ⟹   ENSP00000465351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,248,260 - 69,268,874 (-)Ensembl
RefSeq Acc Id: ENST00000586995   ⟹   ENSP00000467251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,247,346 - 69,302,849 (-)Ensembl
RefSeq Acc Id: ENST00000587607   ⟹   ENSP00000467815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,306,763 - 69,327,090 (-)Ensembl
RefSeq Acc Id: ENST00000588106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,249,288 - 69,251,628 (-)Ensembl
RefSeq Acc Id: ENST00000588665   ⟹   ENSP00000467672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,313,285 - 69,327,244 (-)Ensembl
RefSeq Acc Id: ENST00000588877   ⟹   ENSP00000467882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,246,951 - 69,315,425 (-)Ensembl
RefSeq Acc Id: ENST00000589609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,316,900 - 69,327,111 (-)Ensembl
RefSeq Acc Id: ENST00000589975   ⟹   ENSP00000466931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,304,094 - 69,309,320 (-)Ensembl
RefSeq Acc Id: ENST00000591234   ⟹   ENSP00000465766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,247,145 - 69,286,261 (-)Ensembl
RefSeq Acc Id: ENST00000592568   ⟹   ENSP00000466662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,309,349 - 69,327,097 (-)Ensembl
RefSeq Acc Id: ENST00000593153   ⟹   ENSP00000467448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,273,971 - 69,327,182 (-)Ensembl
RefSeq Acc Id: ENST00000593253   ⟹   ENSP00000467524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1769,306,763 - 69,315,360 (-)Ensembl
RefSeq Acc Id: NM_018672   ⟹   NP_061142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381769,244,311 - 69,315,633 (-)NCBI
GRCh371767,240,576 - 67,323,323 (-)ENTREZGENE
Build 361764,754,386 - 64,823,369 (-)NCBI Archive
HuRef1762,625,936 - 62,708,949 (-)ENTREZGENE
CHM1_11767,305,073 - 67,376,264 (-)NCBI
T2T-CHM13v2.01770,120,918 - 70,192,265 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172232   ⟹   NP_758424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381769,244,311 - 69,327,133 (-)NCBI
GRCh371767,240,576 - 67,323,323 (-)ENTREZGENE
Build 361764,754,386 - 64,834,885 (-)NCBI Archive
HuRef1762,625,936 - 62,708,949 (-)ENTREZGENE
CHM1_11767,305,073 - 67,387,811 (-)NCBI
T2T-CHM13v2.01770,120,918 - 70,203,761 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_758424   ⟸   NM_172232
- UniProtKB: Q96PZ9 (UniProtKB/Swiss-Prot),   Q96MS4 (UniProtKB/Swiss-Prot),   Q96LJ1 (UniProtKB/Swiss-Prot),   Q8IVJ2 (UniProtKB/Swiss-Prot),   Q9NY14 (UniProtKB/Swiss-Prot),   Q8WWZ7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_061142   ⟸   NM_018672
- UniProtKB: Q96PZ9 (UniProtKB/Swiss-Prot),   Q96MS4 (UniProtKB/Swiss-Prot),   Q96LJ1 (UniProtKB/Swiss-Prot),   Q8IVJ2 (UniProtKB/Swiss-Prot),   Q9NY14 (UniProtKB/Swiss-Prot),   Q8WWZ7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000467251   ⟸   ENST00000586995
RefSeq Acc Id: ENSP00000465351   ⟸   ENST00000586811
RefSeq Acc Id: ENSP00000467815   ⟸   ENST00000587607
RefSeq Acc Id: ENSP00000467882   ⟸   ENST00000588877
RefSeq Acc Id: ENSP00000467672   ⟸   ENST00000588665
RefSeq Acc Id: ENSP00000466931   ⟸   ENST00000589975
RefSeq Acc Id: ENSP00000376443   ⟸   ENST00000392676
RefSeq Acc Id: ENSP00000465766   ⟸   ENST00000591234
RefSeq Acc Id: ENSP00000466662   ⟸   ENST00000592568
RefSeq Acc Id: ENSP00000467524   ⟸   ENST00000593253
RefSeq Acc Id: ENSP00000467448   ⟸   ENST00000593153
Protein Domains
ABC transporter   ABC-2 type transporter transmembrane

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WWZ7-F1-model_v2 AlphaFold Q8WWZ7 1-1642 view protein structure

Promoters
RGD ID:6794030
Promoter ID:HG_KWN:26967
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:ENST00000392677,   NM_172232,   UC002JIH.1,   UC010DFE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361764,834,794 - 64,835,294 (-)MPROMDB
RGD ID:7236143
Promoter ID:EPDNEW_H23817
Type:initiation region
Name:ABCA5_3
Description:ATP binding cassette subfamily A member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23819  EPDNEW_H23821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381769,327,098 - 69,327,158EPDNEW
RGD ID:7236147
Promoter ID:EPDNEW_H23819
Type:initiation region
Name:ABCA5_1
Description:ATP binding cassette subfamily A member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23817  EPDNEW_H23821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381769,327,133 - 69,327,193EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:35 AgrOrtholog
COSMIC ABCA5 COSMIC
Ensembl Genes ENSG00000154265 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392676 ENTREZGENE
  ENST00000392676.8 UniProtKB/Swiss-Prot
  ENST00000586811.1 UniProtKB/TrEMBL
  ENST00000586995.5 UniProtKB/TrEMBL
  ENST00000587607.5 UniProtKB/TrEMBL
  ENST00000588665.5 UniProtKB/TrEMBL
  ENST00000588877 ENTREZGENE
  ENST00000588877.5 UniProtKB/Swiss-Prot
  ENST00000589975.5 UniProtKB/TrEMBL
  ENST00000591234.5 UniProtKB/TrEMBL
  ENST00000592568.1 UniProtKB/TrEMBL
  ENST00000593153.5 UniProtKB/TrEMBL
  ENST00000593253.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154265 GTEx
HGNC ID HGNC:35 ENTREZGENE
Human Proteome Map ABCA5 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC2_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23461 UniProtKB/Swiss-Prot
NCBI Gene 23461 ENTREZGENE
OMIM 612503 OMIM
PANTHER PTHR19229 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19229:SF100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC2_membrane_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24380 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
UniProt A0A075B778_HUMAN UniProtKB/TrEMBL
  ABCA5_HUMAN UniProtKB/Swiss-Prot
  K7EJW6_HUMAN UniProtKB/TrEMBL
  K7EKS9_HUMAN UniProtKB/TrEMBL
  K7EMV2_HUMAN UniProtKB/TrEMBL
  K7ENF9_HUMAN UniProtKB/TrEMBL
  K7EPM3_HUMAN UniProtKB/TrEMBL
  K7EQ50_HUMAN UniProtKB/TrEMBL
  Q05C38_HUMAN UniProtKB/TrEMBL
  Q6N017_HUMAN UniProtKB/TrEMBL
  Q8IVJ2 ENTREZGENE
  Q8WWZ7 ENTREZGENE
  Q96LJ1 ENTREZGENE
  Q96MS4 ENTREZGENE
  Q96PZ9 ENTREZGENE
  Q9NY14 ENTREZGENE
UniProt Secondary Q8IVJ2 UniProtKB/Swiss-Prot
  Q96LJ1 UniProtKB/Swiss-Prot
  Q96MS4 UniProtKB/Swiss-Prot
  Q96PZ9 UniProtKB/Swiss-Prot
  Q9NY14 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCA5  ATP binding cassette subfamily A member 5  ABCA5  ATP-binding cassette, sub-family A (ABC1), member 5  Symbol and/or name change 5135510 APPROVED