ATP13A3 (ATPase 13A3) - Rat Genome Database

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Gene: ATP13A3 (ATPase 13A3) Homo sapiens
Analyze
Symbol: ATP13A3
Name: ATPase 13A3
RGD ID: 1353842
HGNC Page HGNC:24113
Description: Enables P-type transmembrane transporter activity. Predicted to be involved in intracellular calcium ion homeostasis and polyamine transmembrane transport. Located in early endosome membrane; late endosome membrane; and recycling endosome membrane. Implicated in primary pulmonary hypertension.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AFURS1; ATPase family homolog up-regulated in senescence cells 1; ATPase type 13A3; DKFZp686K16189; FLJ90613; polyamine-transporting ATPase 13A3; PPH5; probable cation-transporting ATPase 13A3; putrescine transporting ATPase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383194,402,677 - 194,494,334 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3194,402,672 - 194,498,364 (-)EnsemblGRCh38hg38GRCh38
GRCh373194,123,406 - 194,207,731 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363195,604,692 - 195,670,257 (-)NCBINCBI36Build 36hg18NCBI36
Celera3192,538,810 - 192,604,327 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3191,502,927 - 191,568,841 (-)NCBIHuRef
CHM1_13194,085,425 - 194,151,835 (-)NCBICHM1_1
T2T-CHM13v2.03197,101,099 - 197,192,872 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. Lindhurst MJ, etal., N Engl J Med. 2011 Aug 18;365(7):611-9. Epub 2011 Jul 27.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8175911   PMID:11867234   PMID:12477932   PMID:14702039   PMID:15342556   PMID:16303743   PMID:16344560   PMID:16641997   PMID:17081983   PMID:19913121   PMID:19946888  
PMID:20628086   PMID:21873635   PMID:22810586   PMID:26186194   PMID:26439863   PMID:28514442   PMID:29505581   PMID:29507755   PMID:29568061   PMID:29650961   PMID:30639242   PMID:30679663  
PMID:30833792   PMID:31091453   PMID:31871319   PMID:32353859   PMID:32694731   PMID:33060197   PMID:33091845   PMID:33310703   PMID:33845483   PMID:33961781   PMID:34079125   PMID:35337019  
PMID:36215168   PMID:37768083   PMID:38360978   PMID:38626311  


Genomics

Comparative Map Data
ATP13A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383194,402,677 - 194,494,334 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3194,402,672 - 194,498,364 (-)EnsemblGRCh38hg38GRCh38
GRCh373194,123,406 - 194,207,731 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363195,604,692 - 195,670,257 (-)NCBINCBI36Build 36hg18NCBI36
Celera3192,538,810 - 192,604,327 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3191,502,927 - 191,568,841 (-)NCBIHuRef
CHM1_13194,085,425 - 194,151,835 (-)NCBICHM1_1
T2T-CHM13v2.03197,101,099 - 197,192,872 (-)NCBIT2T-CHM13v2.0
Atp13a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391630,131,241 - 30,207,674 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1630,131,241 - 30,224,793 (-)EnsemblGRCm39 Ensembl
GRCm381630,312,423 - 30,388,871 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1630,312,423 - 30,405,975 (-)EnsemblGRCm38mm10GRCm38
MGSCv371630,312,509 - 30,388,616 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361630,232,149 - 30,325,722 (-)NCBIMGSCv36mm8
Celera1630,819,534 - 30,894,748 (-)NCBICelera
Cytogenetic Map16B2NCBI
cM Map1621.26NCBI
Atp13a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81183,860,725 - 83,946,899 (+)NCBIGRCr8
mRatBN7.21170,364,998 - 70,442,005 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1170,365,322 - 70,441,235 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1179,209,390 - 79,283,692 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01171,847,200 - 71,918,446 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01170,898,497 - 70,972,793 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01173,936,750 - 73,963,852 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1173,936,750 - 73,963,852 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01176,998,192 - 77,025,060 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41172,263,084 - 72,290,643 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1169,338,565 - 69,365,886 (+)NCBICelera
Cytogenetic Map11q22NCBI
Atp13a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542014,295,768 - 14,375,325 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542014,295,844 - 14,375,325 (+)NCBIChiLan1.0ChiLan1.0
ATP13A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22192,324,642 - 192,424,715 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13192,329,359 - 192,429,436 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03191,698,896 - 191,782,643 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13202,013,625 - 202,096,319 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3202,013,633 - 202,096,324 (-)Ensemblpanpan1.1panPan2
ATP13A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13331,196,666 - 31,294,880 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3331,197,343 - 31,293,826 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3331,226,003 - 31,320,688 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03331,455,378 - 31,553,674 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3331,481,012 - 31,553,660 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13331,249,819 - 31,344,727 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03331,283,607 - 31,378,336 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03331,910,811 - 32,005,691 (+)NCBIUU_Cfam_GSD_1.0
Atp13a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602123,849,430 - 123,923,827 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936711354,020 - 397,145 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936711325,978 - 400,374 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP13A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13131,391,798 - 131,493,623 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113131,391,793 - 131,476,123 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213140,973,289 - 141,022,702 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP13A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11588,497,643 - 88,584,833 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1588,497,648 - 88,557,494 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604162,184,585 - 62,271,757 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp13a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473063,310,273 - 63,379,978 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473063,290,423 - 63,378,868 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP13A3
163 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 copy number loss See cases [RCV000051610] Chr3:187446231..195029133 [GRCh38]
Chr3:187164019..194749862 [GRCh37]
Chr3:188646713..196231151 [NCBI36]
Chr3:3q27.3-29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_004488.2(GP5):c.84C>T (p.Val28=) single nucleotide variant Malignant melanoma [RCV000060793] Chr3:194398199 [GRCh38]
Chr3:194118928 [GRCh37]
Chr3:195600217 [NCBI36]
Chr3:3q29		 not provided
NM_004488.2(GP5):c.604C>T (p.His202Tyr) single nucleotide variant Malignant melanoma [RCV000065985] Chr3:194397679 [GRCh38]
Chr3:194118408 [GRCh37]
Chr3:195599697 [NCBI36]
Chr3:3q29		 not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1 copy number loss See cases [RCV000137962] Chr3:186765148..194409416 [GRCh38]
Chr3:186482937..194130145 [GRCh37]
Chr3:187965631..195611434 [NCBI36]
Chr3:3q27.3-29		 pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:193333511-194338436)x3 copy number gain Breast ductal adenocarcinoma [RCV000207285] Chr3:193333511..194338436 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:193944478-194483962)x1 copy number loss See cases [RCV000239429] Chr3:193944478..194483962 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:193952869-194669386)x3 copy number gain See cases [RCV000448609] Chr3:193952869..194669386 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001367549.1(ATP13A3):c.3046A>G (p.Ile1016Val) single nucleotide variant not specified [RCV004298806] Chr3:194427154 [GRCh38]
Chr3:194147883 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_001367549.1(ATP13A3):c.409-20C>T single nucleotide variant not provided [RCV001610980] Chr3:194459561 [GRCh38]
Chr3:194180290 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1711-5T>C single nucleotide variant not provided [RCV000969468] Chr3:194438977 [GRCh38]
Chr3:194159706 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_001367549.1(ATP13A3):c.561-21G>T single nucleotide variant not provided [RCV001608306] Chr3:194455983 [GRCh38]
Chr3:194176712 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2246-152G>C single nucleotide variant not provided [RCV001707201] Chr3:194432044 [GRCh38]
Chr3:194152773 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2875-35A>C single nucleotide variant not provided [RCV001639465] Chr3:194428952 [GRCh38]
Chr3:194149681 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2947+193C>T single nucleotide variant not provided [RCV001640019] Chr3:194428652 [GRCh38]
Chr3:194149381 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.51+78T>G single nucleotide variant not provided [RCV001597383] Chr3:194462062 [GRCh38]
Chr3:194182791 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.3574-204G>A single nucleotide variant not provided [RCV001660762] Chr3:194406320 [GRCh38]
Chr3:194127049 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2421+124A>G single nucleotide variant not provided [RCV001637130] Chr3:194431593 [GRCh38]
Chr3:194152322 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.225+169A>G single nucleotide variant not provided [RCV001598260] Chr3:194460489 [GRCh38]
Chr3:194181218 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2948-22C>T single nucleotide variant not provided [RCV001720511] Chr3:194427274 [GRCh38]
Chr3:194148003 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1497+201A>G single nucleotide variant not provided [RCV001621712] Chr3:194446726 [GRCh38]
Chr3:194167455 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.765+165G>T single nucleotide variant not provided [RCV001638938] Chr3:194454093 [GRCh38]
Chr3:194174822 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2875-54C>T single nucleotide variant not provided [RCV001686167] Chr3:194428971 [GRCh38]
Chr3:194149700 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.631-236T>G single nucleotide variant not provided [RCV001698922] Chr3:194454628 [GRCh38]
Chr3:194175357 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.3403-147G>C single nucleotide variant not provided [RCV001709406] Chr3:194413986 [GRCh38]
Chr3:194134715 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1560-221C>T single nucleotide variant not provided [RCV001690103] Chr3:194441682 [GRCh38]
Chr3:194162411 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.226-43C>A single nucleotide variant not provided [RCV001691342] Chr3:194460014 [GRCh38]
Chr3:194180743 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1151-74del deletion not provided [RCV001682606] Chr3:194448083 [GRCh38]
Chr3:194168812 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1308+81C>G single nucleotide variant not provided [RCV001681393] Chr3:194447771 [GRCh38]
Chr3:194168500 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:194161542-194998084)x3 copy number gain not provided [RCV001249377] Chr3:194161542..194998084 [GRCh37]
Chr3:3q29		 not provided
NM_001367549.1(ATP13A3):c.631-233T>C single nucleotide variant not provided [RCV001538403] Chr3:194454625 [GRCh38]
Chr3:194175354 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1560-94dup duplication not provided [RCV001709108] Chr3:194441545..194441546 [GRCh38]
Chr3:194162274..194162275 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1999+30T>A single nucleotide variant not provided [RCV001671355] Chr3:194437281 [GRCh38]
Chr3:194158010 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2246-107C>T single nucleotide variant not provided [RCV001693715] Chr3:194431999 [GRCh38]
Chr3:194152728 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1711-225T>C single nucleotide variant not provided [RCV001608740] Chr3:194439197 [GRCh38]
Chr3:194159926 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.838+130C>T single nucleotide variant not provided [RCV001611280] Chr3:194453576 [GRCh38]
Chr3:194174305 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2625-157C>T single nucleotide variant not provided [RCV001609000] Chr3:194430472 [GRCh38]
Chr3:194151201 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1497+43C>T single nucleotide variant not provided [RCV001691591] Chr3:194446884 [GRCh38]
Chr3:194167613 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.51+32G>A single nucleotide variant not provided [RCV001654958] Chr3:194462108 [GRCh38]
Chr3:194182837 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1 copy number loss not provided [RCV001795848] Chr3:191866466..197842171 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs) duplication Pulmonary arterial hypertension [RCV001807427]|Pulmonary hypertension, primary, autosomal recessive [RCV002246429] Chr3:194427120..194427121 [GRCh38]
Chr3:194147849..194147850 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met) single nucleotide variant Pulmonary arterial hypertension [RCV001807424]|Pulmonary hypertension, primary, autosomal recessive [RCV002246426] Chr3:194431004 [GRCh38]
Chr3:194151733 [GRCh37]
Chr3:3q29		 pathogenic|likely pathogenic
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter) single nucleotide variant Pulmonary arterial hypertension [RCV001807428]|Pulmonary hypertension, primary, autosomal recessive [RCV002246430]|not provided [RCV002569007] Chr3:194406005 [GRCh38]
Chr3:194126734 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs) duplication Pulmonary arterial hypertension [RCV001807425]|Pulmonary hypertension, primary, autosomal recessive [RCV002246427] Chr3:194431017..194431018 [GRCh38]
Chr3:194151746..194151747 [GRCh37]
Chr3:3q29		 pathogenic
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) single nucleotide variant Pulmonary arterial hypertension [RCV001807426]|Pulmonary hypertension, primary, autosomal recessive [RCV002246428] Chr3:194433790 [GRCh38]
Chr3:194154519 [GRCh37]
Chr3:3q29		 pathogenic|likely pathogenic
NM_001367549.1(ATP13A3):c.808G>A (p.Val270Ile) single nucleotide variant not provided [RCV001987924] Chr3:194453736 [GRCh38]
Chr3:194174465 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:192607378-194745252) copy number loss not specified [RCV002053400] Chr3:192607378..194745252 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:193836939-194169926) copy number gain not specified [RCV002053401] Chr3:193836939..194169926 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3346A>T (p.Ile1116Phe) single nucleotide variant not provided [RCV002023838] Chr3:194419935 [GRCh38]
Chr3:194140664 [GRCh37]
Chr3:3q29		 uncertain significance
NC_000003.11:g.(?_193311167)_(194182919_?)dup duplication not provided [RCV001943101] Chr3:193311167..194182919 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2246-3T>C single nucleotide variant not provided [RCV001925407] Chr3:194431895 [GRCh38]
Chr3:194152624 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1741G>A (p.Ala581Thr) single nucleotide variant not provided [RCV001941388] Chr3:194438942 [GRCh38]
Chr3:194159671 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1870C>T (p.Arg624Cys) single nucleotide variant not provided [RCV001996775] Chr3:194437440 [GRCh38]
Chr3:194158169 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2120+4A>T single nucleotide variant not provided [RCV001870217] Chr3:194437091 [GRCh38]
Chr3:194157820 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.77G>T (p.Arg26Leu) single nucleotide variant not provided [RCV002046536] Chr3:194460806 [GRCh38]
Chr3:194181535 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3417A>C (p.Pro1139=) single nucleotide variant not provided [RCV002111602] Chr3:194413825 [GRCh38]
Chr3:194134554 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1711-20dup duplication not provided [RCV002169151] Chr3:194438991..194438992 [GRCh38]
Chr3:194159720..194159721 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.3402+13C>T single nucleotide variant not provided [RCV002188762] Chr3:194419866 [GRCh38]
Chr3:194140595 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.2262T>C (p.Thr754=) single nucleotide variant ATP13A3-related disorder [RCV003913777]|not provided [RCV002079409] Chr3:194431876 [GRCh38]
Chr3:194152605 [GRCh37]
Chr3:3q29		 benign|likely benign
NM_001367549.1(ATP13A3):c.1999+6G>A single nucleotide variant ATP13A3-related disorder [RCV003923660]|not provided [RCV002124631] Chr3:194437305 [GRCh38]
Chr3:194158034 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.226-11C>T single nucleotide variant not provided [RCV002127442] Chr3:194459982 [GRCh38]
Chr3:194180711 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.426C>T (p.His142=) single nucleotide variant not provided [RCV002170737] Chr3:194459524 [GRCh38]
Chr3:194180253 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3070G>A (p.Gly1024Ser) single nucleotide variant ATP13A3-related disorder [RCV003913787]|not provided [RCV002110018] Chr3:194427130 [GRCh38]
Chr3:194147859 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.3136A>G (p.Thr1046Ala) single nucleotide variant ATP13A3-related disorder [RCV003926313]|not provided [RCV002196319] Chr3:194425519 [GRCh38]
Chr3:194146248 [GRCh37]
Chr3:3q29		 benign|likely benign
NM_001367549.1(ATP13A3):c.1559+17C>T single nucleotide variant not provided [RCV002181661] Chr3:194444708 [GRCh38]
Chr3:194165437 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1767A>G (p.Thr589=) single nucleotide variant not provided [RCV002118843] Chr3:194438916 [GRCh38]
Chr3:194159645 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1711-13T>C single nucleotide variant not provided [RCV002198646] Chr3:194438985 [GRCh38]
Chr3:194159714 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2625-17A>G single nucleotide variant not provided [RCV002160967] Chr3:194430332 [GRCh38]
Chr3:194151061 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2667+16del deletion not provided [RCV002164632] Chr3:194430257 [GRCh38]
Chr3:194150986 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.85C>T (p.Leu29Phe) single nucleotide variant not provided [RCV002102513]|not specified [RCV004045746] Chr3:194460798 [GRCh38]
Chr3:194181527 [GRCh37]
Chr3:3q29		 likely benign|uncertain significance
NM_001367549.1(ATP13A3):c.2709C>T (p.Leu903=) single nucleotide variant not provided [RCV002103863] Chr3:194430140 [GRCh38]
Chr3:194150869 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1113C>T (p.Tyr371=) single nucleotide variant ATP13A3-related disorder [RCV003923583]|not provided [RCV002100675] Chr3:194448494 [GRCh38]
Chr3:194169223 [GRCh37]
Chr3:3q29		 benign|likely benign
NM_001367549.1(ATP13A3):c.279T>C (p.Thr93=) single nucleotide variant ATP13A3-related disorder [RCV003916303]|not provided [RCV002138096] Chr3:194459918 [GRCh38]
Chr3:194180647 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.310A>G (p.Asn104Asp) single nucleotide variant ATP13A3-related disorder [RCV003913733]|not provided [RCV002136710] Chr3:194459887 [GRCh38]
Chr3:194180616 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2668-13T>G single nucleotide variant not provided [RCV002161310] Chr3:194430194 [GRCh38]
Chr3:194150923 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
NM_001367549.1(ATP13A3):c.1062T>A (p.His354Gln) single nucleotide variant not specified [RCV004303283] Chr3:194448545 [GRCh38]
Chr3:194169274 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3436A>G (p.Met1146Val) single nucleotide variant not provided [RCV002726883] Chr3:194413806 [GRCh38]
Chr3:194134535 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1018G>C (p.Asp340His) single nucleotide variant not specified [RCV004142004] Chr3:194448589 [GRCh38]
Chr3:194169318 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.261C>T (p.Arg87=) single nucleotide variant not provided [RCV002971576] Chr3:194459936 [GRCh38]
Chr3:194180665 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2653G>A (p.Ala885Thr) single nucleotide variant not specified [RCV004231085] Chr3:194430287 [GRCh38]
Chr3:194151016 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2080G>A (p.Glu694Lys) single nucleotide variant not specified [RCV004212988] Chr3:194437135 [GRCh38]
Chr3:194157864 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.736A>G (p.Ile246Val) single nucleotide variant not provided [RCV002771250] Chr3:194454287 [GRCh38]
Chr3:194175016 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2624+19T>C single nucleotide variant not provided [RCV002771575] Chr3:194430924 [GRCh38]
Chr3:194151653 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.500C>G (p.Ser167Cys) single nucleotide variant not provided [RCV002862785] Chr3:194457154 [GRCh38]
Chr3:194177883 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2875-16A>G single nucleotide variant not provided [RCV002776293] Chr3:194428933 [GRCh38]
Chr3:194149662 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:193396762-195009038)x3 copy number gain not provided [RCV002475814] Chr3:193396762..195009038 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2997G>A (p.Ser999=) single nucleotide variant not provided [RCV002996448] Chr3:194427203 [GRCh38]
Chr3:194147932 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3427C>T (p.Arg1143Cys) single nucleotide variant not specified [RCV004141740] Chr3:194413815 [GRCh38]
Chr3:194134544 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2128A>G (p.Ile710Val) single nucleotide variant not provided [RCV002706651] Chr3:194433889 [GRCh38]
Chr3:194154618 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2052T>C (p.Arg684=) single nucleotide variant not provided [RCV002927179] Chr3:194437163 [GRCh38]
Chr3:194157892 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.2246-13T>C single nucleotide variant not provided [RCV002795362] Chr3:194431905 [GRCh38]
Chr3:194152634 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1828-19T>C single nucleotide variant not provided [RCV002638825] Chr3:194437592 [GRCh38]
Chr3:194158321 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.2222A>G (p.Asn741Ser) single nucleotide variant not specified [RCV004069786] Chr3:194433795 [GRCh38]
Chr3:194154524 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3122C>T (p.Ser1041Leu) single nucleotide variant ATP13A3-related disorder [RCV003916642]|not provided [RCV002923270] Chr3:194427078 [GRCh38]
Chr3:194147807 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1979G>T (p.Gly660Val) single nucleotide variant not specified [RCV004172305] Chr3:194437331 [GRCh38]
Chr3:194158060 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2168A>G (p.Gln723Arg) single nucleotide variant not provided [RCV003546930]|not specified [RCV004196843] Chr3:194433849 [GRCh38]
Chr3:194154578 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.115T>C (p.Ser39Pro) single nucleotide variant not specified [RCV004164011] Chr3:194460768 [GRCh38]
Chr3:194181497 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1203A>G (p.Pro401=) single nucleotide variant not provided [RCV002952504] Chr3:194447957 [GRCh38]
Chr3:194168686 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.807C>T (p.Thr269=) single nucleotide variant not provided [RCV003081242] Chr3:194453737 [GRCh38]
Chr3:194174466 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.727A>G (p.Ile243Val) single nucleotide variant ATP13A3-related disorder [RCV003906340]|not provided [RCV002933383] Chr3:194454296 [GRCh38]
Chr3:194175025 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.839-20CTTT[4] microsatellite not provided [RCV002957650] Chr3:194450284..194450285 [GRCh38]
Chr3:194171013..194171014 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.2572C>T (p.Arg858Cys) single nucleotide variant not provided [RCV002643217] Chr3:194430995 [GRCh38]
Chr3:194151724 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3483+2T>C single nucleotide variant not provided [RCV002957185] Chr3:194413757 [GRCh38]
Chr3:194134486 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3148G>T (p.Gly1050Trp) single nucleotide variant not provided [RCV002667368] Chr3:194425507 [GRCh38]
Chr3:194146236 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1304A>G (p.Asn435Ser) single nucleotide variant not specified [RCV004168117] Chr3:194447856 [GRCh38]
Chr3:194168585 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3041T>G (p.Ile1014Ser) single nucleotide variant not provided [RCV002957883]|not specified [RCV004067296] Chr3:194427159 [GRCh38]
Chr3:194147888 [GRCh37]
Chr3:3q29		 likely benign|uncertain significance
NM_001367549.1(ATP13A3):c.1900C>A (p.Arg634Ser) single nucleotide variant not provided [RCV002875944] Chr3:194437410 [GRCh38]
Chr3:194158139 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1586G>T (p.Cys529Phe) single nucleotide variant not provided [RCV002626154]|not specified [RCV004065854] Chr3:194441435 [GRCh38]
Chr3:194162164 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2755T>G (p.Ser919Ala) single nucleotide variant not provided [RCV002917308] Chr3:194430094 [GRCh38]
Chr3:194150823 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1584G>A (p.Val528=) single nucleotide variant ATP13A3-related disorder [RCV003916614]|not provided [RCV002932202] Chr3:194441437 [GRCh38]
Chr3:194162166 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1978G>A (p.Gly660Ser) single nucleotide variant not provided [RCV002600762] Chr3:194437332 [GRCh38]
Chr3:194158061 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.715G>T (p.Val239Leu) single nucleotide variant not specified [RCV004125750] Chr3:194454308 [GRCh38]
Chr3:194175037 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3472A>G (p.Ile1158Val) single nucleotide variant not provided [RCV002967354]|not specified [RCV004068320] Chr3:194413770 [GRCh38]
Chr3:194134499 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3597A>G (p.Lys1199=) single nucleotide variant not provided [RCV002671064] Chr3:194406093 [GRCh38]
Chr3:194126822 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1594A>G (p.Met532Val) single nucleotide variant not specified [RCV004102148] Chr3:194441427 [GRCh38]
Chr3:194162156 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1150+3A>G single nucleotide variant not provided [RCV002627713] Chr3:194448454 [GRCh38]
Chr3:194169183 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1653T>G (p.Ile551Met) single nucleotide variant not specified [RCV004170001] Chr3:194441368 [GRCh38]
Chr3:194162097 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.787A>T (p.Met263Leu) single nucleotide variant not specified [RCV004166286] Chr3:194453757 [GRCh38]
Chr3:194174486 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3328dup (p.Ser1110fs) duplication not provided [RCV002680991] Chr3:194419952..194419953 [GRCh38]
Chr3:194140681..194140682 [GRCh37]
Chr3:3q29		 pathogenic
NM_001367549.1(ATP13A3):c.971-23GTT[6] microsatellite not provided [RCV002583679] Chr3:194448644..194448645 [GRCh38]
Chr3:194169373..194169374 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.921T>C (p.Asp307=) single nucleotide variant not provided [RCV003073154] Chr3:194450194 [GRCh38]
Chr3:194170923 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.592G>A (p.Val198Ile) single nucleotide variant not specified [RCV004270759] Chr3:194455931 [GRCh38]
Chr3:194176660 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1181G>A (p.Arg394His) single nucleotide variant not specified [RCV004334028] Chr3:194447979 [GRCh38]
Chr3:194168708 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2009A>G (p.Asp670Gly) single nucleotide variant Pulmonary hypertension, primary, autosomal recessive [RCV003142340] Chr3:194437206 [GRCh38]
Chr3:194157935 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3006A>G (p.Ile1002Met) single nucleotide variant not specified [RCV004267173] Chr3:194427194 [GRCh38]
Chr3:194147923 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.455C>T (p.Thr152Ile) single nucleotide variant not specified [RCV004262368] Chr3:194459495 [GRCh38]
Chr3:194180224 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2944A>T (p.Thr982Ser) single nucleotide variant not specified [RCV004314220] Chr3:194428848 [GRCh38]
Chr3:194149577 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:193343827-194599635)x1 copy number loss Autosomal dominant optic atrophy classic form [RCV003329547] Chr3:193343827..194599635 [GRCh37]
Chr3:3q29		 likely pathogenic
NM_001367549.1(ATP13A3):c.403C>A (p.Gln135Lys) single nucleotide variant not specified [RCV004345683] Chr3:194459794 [GRCh38]
Chr3:194180523 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.667G>A (p.Val223Ile) single nucleotide variant not specified [RCV004348803] Chr3:194454356 [GRCh38]
Chr3:194175085 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3052A>G (p.Ile1018Val) single nucleotide variant not specified [RCV004343896] Chr3:194427148 [GRCh38]
Chr3:194147877 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3638C>G (p.Pro1213Arg) single nucleotide variant not provided [RCV003875380] Chr3:194406052 [GRCh38]
Chr3:194126781 [GRCh37]
Chr3:3q29		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_001367549.1(ATP13A3):c.3632A>G (p.Lys1211Arg) single nucleotide variant ATP13A3-related disorder [RCV003420998] Chr3:194406058 [GRCh38]
Chr3:194126787 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:193843129-194259647)x3 copy number gain not provided [RCV003484161] Chr3:193843129..194259647 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2430G>A (p.Pro810=) single nucleotide variant not provided [RCV003439095] Chr3:194431218 [GRCh38]
Chr3:194151947 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1871G>A (p.Arg624His) single nucleotide variant not provided [RCV003546084] Chr3:194437439 [GRCh38]
Chr3:194158168 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3744A>G (p.Gly1248=) single nucleotide variant ATP13A3-related disorder [RCV003929219]|not provided [RCV003545721] Chr3:194405946 [GRCh38]
Chr3:194126675 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3168C>T (p.His1056=) single nucleotide variant not provided [RCV003829644] Chr3:194425487 [GRCh38]
Chr3:194146216 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1742C>T (p.Ala581Val) single nucleotide variant not provided [RCV003738610] Chr3:194438941 [GRCh38]
Chr3:194159670 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1602A>G (p.Val534=) single nucleotide variant not provided [RCV003829758] Chr3:194441419 [GRCh38]
Chr3:194162148 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.2127A>G (p.Ala709=) single nucleotide variant not provided [RCV003695164] Chr3:194433890 [GRCh38]
Chr3:194154619 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.2007C>T (p.Val669=) single nucleotide variant not provided [RCV003575817] Chr3:194437208 [GRCh38]
Chr3:194157937 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.976A>C (p.Ser326Arg) single nucleotide variant not provided [RCV003544590] Chr3:194448631 [GRCh38]
Chr3:194169360 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2874+20G>A single nucleotide variant not provided [RCV003690455] Chr3:194429658 [GRCh38]
Chr3:194150387 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3421C>G (p.Gln1141Glu) single nucleotide variant not provided [RCV003659198] Chr3:194413821 [GRCh38]
Chr3:194134550 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2005G>C (p.Val669Leu) single nucleotide variant not provided [RCV003703668] Chr3:194437210 [GRCh38]
Chr3:194157939 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.525T>C (p.His175=) single nucleotide variant not provided [RCV003856305] Chr3:194457129 [GRCh38]
Chr3:194177858 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.70T>G (p.Leu24Val) single nucleotide variant ATP13A3-related disorder [RCV003929292]|not provided [RCV003699627] Chr3:194460813 [GRCh38]
Chr3:194181542 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1774C>T (p.Arg592Cys) single nucleotide variant ATP13A3-related disorder [RCV003909087]|not provided [RCV003699626] Chr3:194438909 [GRCh38]
Chr3:194159638 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.1962G>A (p.Ala654=) single nucleotide variant not provided [RCV003832822] Chr3:194437348 [GRCh38]
Chr3:194158077 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1150+18_1150+21del microsatellite not provided [RCV003811108] Chr3:194448436..194448439 [GRCh38]
Chr3:194169165..194169168 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.764A>G (p.Lys255Arg) single nucleotide variant not provided [RCV003851272]|not specified [RCV004676311] Chr3:194454259 [GRCh38]
Chr3:194174988 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2403A>G (p.Pro801=) single nucleotide variant not provided [RCV003821401] Chr3:194431735 [GRCh38]
Chr3:194152464 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1711-5dup duplication not provided [RCV003682120] Chr3:194438976..194438977 [GRCh38]
Chr3:194159705..194159706 [GRCh37]
Chr3:3q29		 benign
NM_001367549.1(ATP13A3):c.3113A>C (p.His1038Pro) single nucleotide variant not provided [RCV003705072] Chr3:194427087 [GRCh38]
Chr3:194147816 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1498-19G>T single nucleotide variant not provided [RCV003864299] Chr3:194444805 [GRCh38]
Chr3:194165534 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1309G>A (p.Val437Ile) single nucleotide variant not provided [RCV003862893] Chr3:194447115 [GRCh38]
Chr3:194167844 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.432T>C (p.Ser144=) single nucleotide variant not provided [RCV003871522] Chr3:194459518 [GRCh38]
Chr3:194180247 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.507G>A (p.Thr169=) single nucleotide variant not provided [RCV003720542] Chr3:194457147 [GRCh38]
Chr3:194177876 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.2667+9A>T single nucleotide variant ATP13A3-related disorder [RCV003946744]|not provided [RCV003565885] Chr3:194430264 [GRCh38]
Chr3:194150993 [GRCh37]
Chr3:3q29		 benign|likely benign
NM_001367549.1(ATP13A3):c.2637G>T (p.Gly879=) single nucleotide variant not provided [RCV003819966] Chr3:194430303 [GRCh38]
Chr3:194151032 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.673C>T (p.Leu225=) single nucleotide variant not provided [RCV003721941] Chr3:194454350 [GRCh38]
Chr3:194175079 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3634A>C (p.Thr1212Pro) single nucleotide variant not provided [RCV003674576] Chr3:194406056 [GRCh38]
Chr3:194126785 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1395T>C (p.Gly465=) single nucleotide variant not provided [RCV003551432] Chr3:194447029 [GRCh38]
Chr3:194167758 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3759C>T (p.Ile1253=) single nucleotide variant not provided [RCV003848283] Chr3:194405931 [GRCh38]
Chr3:194126660 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.2937G>A (p.Val979=) single nucleotide variant not provided [RCV003819965] Chr3:194428855 [GRCh38]
Chr3:194149584 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3028G>A (p.Val1010Ile) single nucleotide variant not specified [RCV004425781] Chr3:194427172 [GRCh38]
Chr3:194147901 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2932G>A (p.Val978Ile) single nucleotide variant not specified [RCV004425780] Chr3:194428860 [GRCh38]
Chr3:194149589 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29		 pathogenic
NM_001367549.1(ATP13A3):c.1234T>A (p.Leu412Met) single nucleotide variant not specified [RCV004425776] Chr3:194447926 [GRCh38]
Chr3:194168655 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1321G>A (p.Val441Ile) single nucleotide variant not specified [RCV004425777] Chr3:194447103 [GRCh38]
Chr3:194167832 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3608C>G (p.Pro1203Arg) single nucleotide variant not specified [RCV004425783] Chr3:194406082 [GRCh38]
Chr3:194126811 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.260G>A (p.Arg87His) single nucleotide variant not specified [RCV004425779] Chr3:194459937 [GRCh38]
Chr3:194180666 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2422-9T>C single nucleotide variant ATP13A3-related disorder [RCV003957077] Chr3:194431235 [GRCh38]
Chr3:194151964 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1126G>A (p.Val376Ile) single nucleotide variant not specified [RCV004425775] Chr3:194448481 [GRCh38]
Chr3:194169210 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.304A>G (p.Met102Val) single nucleotide variant not specified [RCV004425782] Chr3:194459893 [GRCh38]
Chr3:194180622 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.3652A>G (p.Met1218Val) single nucleotide variant not specified [RCV004425784] Chr3:194406038 [GRCh38]
Chr3:194126767 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.2120+9G>C single nucleotide variant ATP13A3-related disorder [RCV003909512] Chr3:194437086 [GRCh38]
Chr3:194157815 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1560-5C>T single nucleotide variant ATP13A3-related disorder [RCV003967210] Chr3:194441466 [GRCh38]
Chr3:194162195 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1014A>C (p.Ser338=) single nucleotide variant ATP13A3-related disorder [RCV003981659] Chr3:194448593 [GRCh38]
Chr3:194169322 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1711-6_1711-5dup duplication ATP13A3-related disorder [RCV003894720] Chr3:194438976..194438977 [GRCh38]
Chr3:194159705..194159706 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.1086G>A (p.Gly362=) single nucleotide variant ATP13A3-related disorder [RCV003976828] Chr3:194448521 [GRCh38]
Chr3:194169250 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.333A>G (p.Ala111=) single nucleotide variant not provided [RCV004585782] Chr3:194459864 [GRCh38]
Chr3:194180593 [GRCh37]
Chr3:3q29		 likely benign
NM_001367549.1(ATP13A3):c.886G>C (p.Val296Leu) single nucleotide variant not specified [RCV004682593] Chr3:194450229 [GRCh38]
Chr3:194170958 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1006A>G (p.Asn336Asp) single nucleotide variant not specified [RCV004677116] Chr3:194448601 [GRCh38]
Chr3:194169330 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.3586C>T (p.Arg1196Trp) single nucleotide variant not specified [RCV004677135] Chr3:194406104 [GRCh38]
Chr3:194126833 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1995A>C (p.Glu665Asp) single nucleotide variant not specified [RCV004677108] Chr3:194437315 [GRCh38]
Chr3:194158044 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001367549.1(ATP13A3):c.1951A>G (p.Met651Val) single nucleotide variant not specified [RCV004677125] Chr3:194437359 [GRCh38]
Chr3:194158088 [GRCh37]
Chr3:3q29		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR150hsa-miR-150-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3823
Count of miRNA genes:950
Interacting mature miRNAs:1125
Transcripts:ENST00000256031, ENST00000429136, ENST00000439040, ENST00000446356, ENST00000457986, ENST00000461660, ENST00000484023, ENST00000485194, ENST00000492983, ENST00000497567
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-H48097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,123,689 - 194,123,847UniSTSGRCh37
Build 363195,604,978 - 195,605,136RGDNCBI36
Celera3192,539,096 - 192,539,254RGD
Cytogenetic Map3q29UniSTS
HuRef3191,503,213 - 191,503,371UniSTS
TNG Radiation Hybrid Map3107437.0UniSTS
GeneMap99-GB4 RH Map3726.48UniSTS
NCBI RH Map31975.4UniSTS
SHGC-77686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,125,497 - 194,125,636UniSTSGRCh37
Build 363195,606,786 - 195,606,925RGDNCBI36
Celera3192,540,904 - 192,541,043RGD
Cytogenetic Map3q29UniSTS
HuRef3191,505,021 - 191,505,160UniSTS
TNG Radiation Hybrid Map3107442.0UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
RH93590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,136,535 - 194,136,618UniSTSGRCh37
Build 363195,617,824 - 195,617,907RGDNCBI36
Celera3192,551,943 - 192,552,026RGD
Cytogenetic Map3q29UniSTS
HuRef3191,516,068 - 191,516,151UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
SHGC-64859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,123,514 - 194,123,617UniSTSGRCh37
Build 363195,604,803 - 195,604,906RGDNCBI36
Celera3192,538,921 - 192,539,024RGD
Cytogenetic Map3q29UniSTS
HuRef3191,503,038 - 191,503,141UniSTS
TNG Radiation Hybrid Map1214856.0UniSTS
RH78493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,123,594 - 194,123,753UniSTSGRCh37
Build 363195,604,883 - 195,605,042RGDNCBI36
Celera3192,539,001 - 192,539,160RGD
Cytogenetic Map3q29UniSTS
HuRef3191,503,118 - 191,503,277UniSTS
GeneMap99-GB4 RH Map3726.48UniSTS
SHGC-64151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,136,535 - 194,136,716UniSTSGRCh37
Build 363195,617,824 - 195,618,005RGDNCBI36
Celera3192,551,943 - 192,552,124RGD
Cytogenetic Map3q29UniSTS
HuRef3191,516,068 - 191,516,249UniSTS
TNG Radiation Hybrid Map3107447.0UniSTS
SHGC-37559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,179,909 - 194,180,058UniSTSGRCh37
Build 363195,661,198 - 195,661,347RGDNCBI36
Celera3192,595,268 - 192,595,417RGD
Cytogenetic Map3q29UniSTS
HuRef3191,559,782 - 191,559,931UniSTS
GeneMap99-G3 RH Map39001.0UniSTS
G29192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373194,156,878 - 194,157,009UniSTSGRCh37
Build 363195,638,167 - 195,638,298RGDNCBI36
Celera3192,572,247 - 192,572,378RGD
Cytogenetic Map3q29UniSTS
HuRef3191,536,762 - 191,536,893UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2249 4967 1725 2349 5 623 1950 464 2269 7295 6464 53 3728 1 850 1739 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001367549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ306929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP313821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA852339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR423199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z24724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000256031   ⟹   ENSP00000256031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,680 - 194,468,239 (-)Ensembl
Ensembl Acc Id: ENST00000429136   ⟹   ENSP00000402550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,717 - 194,431,983 (-)Ensembl
Ensembl Acc Id: ENST00000439040   ⟹   ENSP00000416508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,405,919 - 194,468,241 (-)Ensembl
Ensembl Acc Id: ENST00000446356   ⟹   ENSP00000410767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,460,743 - 194,468,239 (-)Ensembl
Ensembl Acc Id: ENST00000457986   ⟹   ENSP00000406234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,459,889 - 194,486,659 (-)Ensembl
Ensembl Acc Id: ENST00000461660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,403,143 - 194,420,384 (-)Ensembl
Ensembl Acc Id: ENST00000484023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,430,930 - 194,432,022 (-)Ensembl
Ensembl Acc Id: ENST00000485194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,447,096 - 194,453,801 (-)Ensembl
Ensembl Acc Id: ENST00000492983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,458,043 - 194,461,888 (-)Ensembl
Ensembl Acc Id: ENST00000497567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,413,814 - 194,420,384 (-)Ensembl
Ensembl Acc Id: ENST00000619199   ⟹   ENSP00000482200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,674 - 194,452,041 (-)Ensembl
Ensembl Acc Id: ENST00000642744   ⟹   ENSP00000493923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,403,208 - 194,462,190 (-)Ensembl
Ensembl Acc Id: ENST00000645319   ⟹   ENSP00000494937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,677 - 194,487,002 (-)Ensembl
Ensembl Acc Id: ENST00000645538   ⟹   ENSP00000494471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,674 - 194,487,002 (-)Ensembl
Ensembl Acc Id: ENST00000645621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,723 - 194,453,057 (-)Ensembl
Ensembl Acc Id: ENST00000685123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,403,173 - 194,433,024 (-)Ensembl
Ensembl Acc Id: ENST00000687055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,672 - 194,498,364 (-)Ensembl
Ensembl Acc Id: ENST00000690382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,433,478 - 194,448,582 (-)Ensembl
Ensembl Acc Id: ENST00000690408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,433,741 - 194,437,918 (-)Ensembl
Ensembl Acc Id: ENST00000690810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,677 - 194,462,212 (-)Ensembl
Ensembl Acc Id: ENST00000691700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3194,402,742 - 194,415,629 (-)Ensembl
RefSeq Acc Id: NM_001367549   ⟹   NP_001354478
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,487,002 (-)NCBI
T2T-CHM13v2.03197,101,099 - 197,185,515 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374836   ⟹   NP_001361765
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,487,002 (-)NCBI
T2T-CHM13v2.03197,101,099 - 197,185,515 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024524   ⟹   NP_078800
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,468,385 (-)NCBI
GRCh373194,123,403 - 194,188,968 (-)RGD
Build 363195,604,692 - 195,670,257 (-)NCBI Archive
Celera3192,538,810 - 192,604,327 (-)RGD
HuRef3191,502,927 - 191,568,841 (-)ENTREZGENE
CHM1_13194,085,425 - 194,151,835 (-)NCBI
T2T-CHM13v2.03197,101,099 - 197,166,898 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164666
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,408,543 - 194,487,002 (-)NCBI
T2T-CHM13v2.03197,106,965 - 197,185,515 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164667
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,487,002 (-)NCBI
T2T-CHM13v2.03197,101,099 - 197,185,515 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269357   ⟹   XP_005269414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,471,323 (-)NCBI
GRCh373194,123,403 - 194,188,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513121   ⟹   XP_011511423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,468,385 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513123   ⟹   XP_011511425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,487,002 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513124   ⟹   XP_011511426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,408,543 - 194,487,002 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448904   ⟹   XP_047304860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,490,023 (-)NCBI
RefSeq Acc Id: XM_047448905   ⟹   XP_047304861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,486,236 (-)NCBI
RefSeq Acc Id: XM_047448906   ⟹   XP_047304862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,486,463 (-)NCBI
RefSeq Acc Id: XM_047448907   ⟹   XP_047304863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,486,236 (-)NCBI
RefSeq Acc Id: XM_047448908   ⟹   XP_047304864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,483,098 (-)NCBI
RefSeq Acc Id: XM_047448909   ⟹   XP_047304865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,494,334 (-)NCBI
RefSeq Acc Id: XM_047448910   ⟹   XP_047304866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,487,993 (-)NCBI
RefSeq Acc Id: XM_047448911   ⟹   XP_047304867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,486,547 (-)NCBI
RefSeq Acc Id: XM_047448912   ⟹   XP_047304868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,494,334 (-)NCBI
RefSeq Acc Id: XM_047448913   ⟹   XP_047304869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,487,993 (-)NCBI
RefSeq Acc Id: XM_047448914   ⟹   XP_047304870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,486,525 (-)NCBI
RefSeq Acc Id: XM_047448915   ⟹   XP_047304871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,486,236 (-)NCBI
RefSeq Acc Id: XM_047448916   ⟹   XP_047304872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383194,402,677 - 194,487,002 (-)NCBI
RefSeq Acc Id: XM_054347843   ⟹   XP_054203818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,186,571 (-)NCBI
RefSeq Acc Id: XM_054347844   ⟹   XP_054203819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,184,744 (-)NCBI
RefSeq Acc Id: XM_054347845   ⟹   XP_054203820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,184,976 (-)NCBI
RefSeq Acc Id: XM_054347846   ⟹   XP_054203821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,181,611 (-)NCBI
RefSeq Acc Id: XM_054347847   ⟹   XP_054203822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,166,898 (-)NCBI
RefSeq Acc Id: XM_054347848   ⟹   XP_054203823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,166,890 (-)NCBI
RefSeq Acc Id: XM_054347849   ⟹   XP_054203824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,186,501 (-)NCBI
RefSeq Acc Id: XM_054347850   ⟹   XP_054203825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,185,060 (-)NCBI
RefSeq Acc Id: XM_054347851   ⟹   XP_054203826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,185,515 (-)NCBI
RefSeq Acc Id: XM_054347852   ⟹   XP_054203827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,192,872 (-)NCBI
RefSeq Acc Id: XM_054347853   ⟹   XP_054203828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,186,501 (-)NCBI
RefSeq Acc Id: XM_054347854   ⟹   XP_054203829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,185,038 (-)NCBI
RefSeq Acc Id: XM_054347855   ⟹   XP_054203830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,184,784 (-)NCBI
RefSeq Acc Id: XM_054347856   ⟹   XP_054203831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,106,965 - 197,185,515 (-)NCBI
RefSeq Acc Id: XM_054347857   ⟹   XP_054203832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03197,101,099 - 197,185,515 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001354478 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361765 (Get FASTA)   NCBI Sequence Viewer  
  NP_078800 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269414 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511423 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511425 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511426 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304860 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304861 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304862 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304863 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304864 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304865 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304866 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304867 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304868 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304869 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304870 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304871 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304872 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203818 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203819 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203820 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203821 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203822 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203823 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203824 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203825 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203826 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203827 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203828 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203829 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203831 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203832 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAB14942 (Get FASTA)   NCBI Sequence Viewer  
  BAC11398 (Get FASTA)   NCBI Sequence Viewer  
  CAC84902 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000416508
  ENSP00000416508.1
  ENSP00000493923
  ENSP00000493923.2
  ENSP00000494471
  ENSP00000494471.1
  ENSP00000494937
  ENSP00000494937.2
GenBank Protein Q9H7F0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_078800   ⟸   NM_024524
- Peptide Label: isoform 1
- UniProtKB: Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   Q9H7F0 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269414   ⟸   XM_005269357
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511425   ⟸   XM_011513123
- Peptide Label: isoform X3
- UniProtKB: Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   Q9H7F0 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511423   ⟸   XM_011513121
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511426   ⟸   XM_011513124
- Peptide Label: isoform X4
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354478   ⟸   NM_001367549
- Peptide Label: isoform 2
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361765   ⟸   NM_001374836
- Peptide Label: isoform 3
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000416508   ⟸   ENST00000439040
Ensembl Acc Id: ENSP00000256031   ⟸   ENST00000256031
Ensembl Acc Id: ENSP00000402550   ⟸   ENST00000429136
Ensembl Acc Id: ENSP00000406234   ⟸   ENST00000457986
Ensembl Acc Id: ENSP00000493923   ⟸   ENST00000642744
Ensembl Acc Id: ENSP00000410767   ⟸   ENST00000446356
Ensembl Acc Id: ENSP00000482200   ⟸   ENST00000619199
Ensembl Acc Id: ENSP00000494471   ⟸   ENST00000645538
Ensembl Acc Id: ENSP00000494937   ⟸   ENST00000645319
RefSeq Acc Id: XP_047304868   ⟸   XM_047448912
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304865   ⟸   XM_047448909
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304860   ⟸   XM_047448904
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304866   ⟸   XM_047448910
- Peptide Label: isoform X2
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304869   ⟸   XM_047448913
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304872   ⟸   XM_047448916
- Peptide Label: isoform X5
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304867   ⟸   XM_047448911
- Peptide Label: isoform X2
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304870   ⟸   XM_047448914
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304862   ⟸   XM_047448906
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304871   ⟸   XM_047448915
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304861   ⟸   XM_047448905
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304863   ⟸   XM_047448907
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304864   ⟸   XM_047448908
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203827   ⟸   XM_054347852
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203818   ⟸   XM_054347843
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203824   ⟸   XM_054347849
- Peptide Label: isoform X2
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203828   ⟸   XM_054347853
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203832   ⟸   XM_054347857
- Peptide Label: isoform X5
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203826   ⟸   XM_054347851
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203825   ⟸   XM_054347850
- Peptide Label: isoform X2
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203829   ⟸   XM_054347854
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203820   ⟸   XM_054347845
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203830   ⟸   XM_054347855
- Peptide Label: isoform X3
- UniProtKB: Q9H7F0 (UniProtKB/Swiss-Prot),   Q8NC11 (UniProtKB/Swiss-Prot),   Q96KS1 (UniProtKB/Swiss-Prot),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203819   ⟸   XM_054347844
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203821   ⟸   XM_054347846
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203822   ⟸   XM_054347847
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203823   ⟸   XM_054347848
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y635 (UniProtKB/TrEMBL),   A0A2R8YDN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203831   ⟸   XM_054347856
- Peptide Label: isoform X4
- UniProtKB: A0A2R8YDN7 (UniProtKB/TrEMBL)
Protein Domains
Cation-transporting P-type ATPase N-terminal   P5B-type ATPase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H7F0-F1-model_v2 AlphaFold Q9H7F0 1-1226 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24113 AgrOrtholog
COSMIC ATP13A3 COSMIC
Ensembl Genes ENSG00000133657 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000439040 ENTREZGENE
  ENST00000439040.6 UniProtKB/Swiss-Prot
  ENST00000642744 ENTREZGENE
  ENST00000642744.2 UniProtKB/TrEMBL
  ENST00000645319 ENTREZGENE
  ENST00000645319.2 UniProtKB/TrEMBL
  ENST00000645538 ENTREZGENE
  ENST00000645538.1 UniProtKB/Swiss-Prot
  ENST00000687055 ENTREZGENE
  ENST00000690810 ENTREZGENE
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, cytoplasmic transduction domain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, transmembrane domain UniProtKB/Swiss-Prot
GTEx ENSG00000133657 GTEx
HGNC ID HGNC:24113 ENTREZGENE
Human Proteome Map ATP13A3 Human Proteome Map
InterPro ATPase_P-typ_cation-transptr_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_TPase_V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P5A-ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P5B-type_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79572 UniProtKB/Swiss-Prot
NCBI Gene 79572 ENTREZGENE
OMIM 610232 OMIM
PANTHER CATION-TRANSPORTING ATPASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYAMINE-TRANSPORTING ATPASE 13A3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cation_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1-E2_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P5-ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134971145 PharmGKB
PRINTS CATATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y635 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YDN7 ENTREZGENE, UniProtKB/TrEMBL
  AT133_HUMAN UniProtKB/Swiss-Prot
  Q8NC11 ENTREZGENE
  Q96KS1 ENTREZGENE
  Q9H7F0 ENTREZGENE
UniProt Secondary Q8NC11 UniProtKB/Swiss-Prot
  Q96KS1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP13A3  ATPase 13A3  ATP13A3  ATPase type 13A3  Symbol and/or name change 5135510 APPROVED