ATP4B (ATPase H+/K+ transporting subunit beta) - Rat Genome Database

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Gene: ATP4B (ATPase H+/K+ transporting subunit beta) Homo sapiens
Analyze
Symbol: ATP4B
Name: ATPase H+/K+ transporting subunit beta
RGD ID: 737185
HGNC Page HGNC:820
Description: Predicted to enable ATPase activator activity. Predicted to be involved in intracellular monoatomic cation homeostasis and monoatomic cation transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of potassium:proton exchanging ATPase complex and sodium:potassium-exchanging ATPase complex. Implicated in atrophic gastritis; autoimmune gastritis; and stomach cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP6B; ATPase H+/K+ transporting beta subunit; ATPase, H+/K+ exchanging, beta polypeptide; ATPase, H+/K+ transporting, beta polypeptide; gastric H(+)/K(+) ATPase subunit beta; gastric H+/K+ ATPase beta subunit; gastric hydrogen-potassium ATPase, beta; potassium-transporting ATPase beta chain; potassium-transporting ATPase subunit beta; proton pump beta chain
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100421417  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,648,804 - 113,658,198 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,648,804 - 113,658,198 (-)EnsemblGRCh38hg38GRCh38
GRCh3713114,303,119 - 114,312,513 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613113,351,120 - 113,360,502 (-)NCBINCBI36Build 36hg18NCBI36
Build 3413113,351,122 - 113,360,502NCBI
Celera1395,130,374 - 95,139,808 (-)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,742,367 - 94,751,761 (-)NCBIHuRef
CHM1_113114,272,447 - 114,281,841 (-)NCBICHM1_1
T2T-CHM13v2.013112,907,872 - 112,917,266 (-)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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Effects of the Histamine 1 Receptor Antagonist Cetirizine on the Osteoporotic Phenotype in H(+) /K(+) ATPase Beta Subunit KO Mice. Aasarød KM, etal., J Cell Biochem. 2016 Sep;117(9):2089-96. doi: 10.1002/jcb.25514. Epub 2016 Mar 4.
2. An autoimmune disease with multiple molecular targets abrogated by the transgenic expression of a single autoantigen in the thymus. Alderuccio F, etal., J Exp Med. 1993 Aug 1;178(2):419-26. doi: 10.1084/jem.178.2.419.
3. Remodeling of the residual gastric mucosa after roux-en-y gastric bypass or vertical sleeve gastrectomy in diet-induced obese rats. Arapis K, etal., PLoS One. 2015 Mar 30;10(3):e0121414. doi: 10.1371/journal.pone.0121414. eCollection 2015.
4. Long-term gastric changes in achlorhydric H(+)/K(+)-ATPase beta subunit deficient mice. Bakkelund KE, etal., Scand J Gastroenterol. 2010 Sep;45(9):1042-7. doi: 10.3109/00365521.2010.490952.
5. Effects of streptozotocin-induced long-term diabetes on parietal cell function and morphology in rats. Bastaki SM, etal., Mol Cell Biochem. 2010 Aug;341(1-2):43-50. doi: 10.1007/s11010-010-0435-4. Epub 2010 Mar 17.
6. Alpha and beta subunits of the gastric H+/K(+)-ATPase are concordantly targeted by parietal cell autoantibodies associated with autoimmune gastritis. Callaghan JM, etal., Autoimmunity. 1993;16(4):289-95.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
9. Measurement of Autoantibodies to Gastric H+,K+-ATPase (ATP4A/B) Using a Luciferase Immunoprecipitation System (LIPS). Lahner E, etal., Methods Mol Biol. 2019;1901:113-131. doi: 10.1007/978-1-4939-8949-2_10.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
12. Intragenic DNA methylation concomitant with repression of ATP4B and ATP4A gene expression in gastric cancer is a potential serum biomarker. Raja UM, etal., Asian Pac J Cancer Prev. 2012;13(11):5563-8. doi: 10.7314/apjcp.2012.13.11.5563.
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1335958   PMID:1656976   PMID:2160952   PMID:7900835   PMID:9017763   PMID:9315713   PMID:10336993   PMID:10722662   PMID:12477932   PMID:12651853   PMID:14685860   PMID:14743830  
PMID:15057823   PMID:15071553   PMID:15155714   PMID:15489334   PMID:16341674   PMID:16344560   PMID:17255364   PMID:18787507   PMID:19694409   PMID:21516116   PMID:21873635   PMID:21988832  
PMID:24700195   PMID:25416956   PMID:30021884   PMID:32296183  


Genomics

Comparative Map Data
ATP4B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,648,804 - 113,658,198 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,648,804 - 113,658,198 (-)EnsemblGRCh38hg38GRCh38
GRCh3713114,303,119 - 114,312,513 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613113,351,120 - 113,360,502 (-)NCBINCBI36Build 36hg18NCBI36
Build 3413113,351,122 - 113,360,502NCBI
Celera1395,130,374 - 95,139,808 (-)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,742,367 - 94,751,761 (-)NCBIHuRef
CHM1_113114,272,447 - 114,281,841 (-)NCBICHM1_1
T2T-CHM13v2.013112,907,872 - 112,917,266 (-)NCBIT2T-CHM13v2.0
Atp4b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39813,436,209 - 13,446,778 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl813,436,205 - 13,446,825 (-)EnsemblGRCm39 Ensembl
GRCm38813,386,209 - 13,396,778 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl813,386,205 - 13,396,825 (-)EnsemblGRCm38mm10GRCm38
MGSCv37813,386,209 - 13,396,778 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36813,386,186 - 13,396,755 (-)NCBIMGSCv36mm8
Celera813,554,643 - 13,565,216 (-)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.89NCBI
Atp4b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81682,846,329 - 82,855,242 (+)NCBIGRCr8
mRatBN7.21676,144,150 - 76,153,063 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1676,144,150 - 76,153,063 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1681,424,745 - 81,433,658 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01684,877,703 - 84,886,616 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01680,126,502 - 80,135,394 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01681,136,218 - 81,145,131 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1681,136,218 - 81,145,131 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01680,624,778 - 80,633,691 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41681,000,154 - 81,009,067 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11681,000,418 - 81,009,332 (+)NCBI
Celera1673,951,353 - 73,960,266 (+)NCBICelera
RH 3.4 Map16743.6RGD
Cytogenetic Map16q12.5NCBI
Atp4b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955404362,368 - 372,077 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955404362,410 - 372,077 (+)NCBIChiLan1.0ChiLan1.0
ATP4B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214115,160,113 - 115,170,521 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113113,851,442 - 113,861,871 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01394,796,689 - 94,807,210 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113113,848,121 - 113,859,054 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13113,848,126 - 113,859,054 (-)Ensemblpanpan1.1panPan2
ATP4B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12260,898,801 - 60,904,223 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2260,898,833 - 60,904,223 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2260,609,212 - 60,615,183 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02261,582,729 - 61,588,695 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2261,583,223 - 61,588,608 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12261,021,472 - 61,027,443 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02261,023,514 - 61,029,484 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02261,054,593 - 61,060,564 (-)NCBIUU_Cfam_GSD_1.0
Atp4b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945195,778,134 - 195,783,608 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936472168,750 - 173,968 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936472168,745 - 173,996 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP4B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1178,780,013 - 78,785,116 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11178,780,013 - 78,785,143 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21186,513,302 - 86,518,449 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP4B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1391,618,147 - 91,629,177 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl391,618,957 - 91,627,679 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604648,705,491 - 48,714,926 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp4b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624793472,241 - 479,753 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624793472,241 - 479,753 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP4B
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111541166-113671678)x1 copy number loss See cases [RCV000051453] Chr13:111541166..113671678 [GRCh38]
Chr13:112193513..114325993 [GRCh37]
Chr13:110991514..113648401 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q34(chr13:113084152-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|See cases [RCV000051454] Chr13:113084152..114327173 [GRCh38]
Chr13:113738466..115085141 [GRCh37]
Chr13:112786467..114110750 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q34(chr13:113328389-113671476)x3 copy number gain See cases [RCV000052034] Chr13:113328389..113671476 [GRCh38]
Chr13:113982704..114325791 [GRCh37]
Chr13:113030705..113373792 [NCBI36]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q34(chr13:113448327-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052035]|See cases [RCV000052035] Chr13:113448327..114327314 [GRCh38]
Chr13:114102642..115085141 [GRCh37]
Chr13:113150643..114110891 [NCBI36]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111439396-114327173)x3 copy number gain See cases [RCV000053798] Chr13:111439396..114327173 [GRCh38]
Chr13:112091743..115085141 [GRCh37]
Chr13:110889744..114110750 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111118651-114340331)x3 copy number gain See cases [RCV000137378] Chr13:111118651..114340331 [GRCh38]
Chr13:111770998..115085141 [GRCh37]
Chr13:110568999..114123908 [NCBI36]
Chr13:13q34
likely pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q34(chr13:111355741-114340331)x1 copy number loss See cases [RCV000137957] Chr13:111355741..114340331 [GRCh38]
Chr13:112008088..115085141 [GRCh37]
Chr13:110806089..114123908 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q34(chr13:111200986-114340331)x1 copy number loss See cases [RCV000141232] Chr13:111200986..114340331 [GRCh38]
Chr13:111853333..115085141 [GRCh37]
Chr13:110651334..114123908 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q34(chr13:110857896-114342258)x1 copy number loss See cases [RCV000143102] Chr13:110857896..114342258 [GRCh38]
Chr13:111510243..115107733 [GRCh37]
Chr13:110308244..114125835 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34
uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q34(chr13:111282121-115107733)x1 copy number loss See cases [RCV000447085] Chr13:111282121..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q34(chr13:111550457-115107733)x1 copy number loss See cases [RCV000445865] Chr13:111550457..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q34(chr13:112091743-115092510)x1 copy number loss See cases [RCV000448192] Chr13:112091743..115092510 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q34(chr13:113707657-115107733)x1 copy number loss See cases [RCV000448435] Chr13:113707657..115107733 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 copy number loss See cases [RCV000512069] Chr13:109151651..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q34(chr13:112530842-115107733)x1 copy number loss not provided [RCV000683558] Chr13:112530842..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1 copy number loss not provided [RCV000683563] Chr13:109771548..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3 copy number gain not provided [RCV000683565] Chr13:108567578..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111152478-114527838)x1 copy number loss not provided [RCV000750904] Chr13:111152478..114527838 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q34(chr13:111217422-115103529)x1 copy number loss not provided [RCV000750906] Chr13:111217422..115103529 [GRCh37]
Chr13:13q34
pathogenic
NM_000705.4(ATP4B):c.769G>A (p.Ala257Thr) single nucleotide variant not specified [RCV004315027] Chr13:113649481 [GRCh38]
Chr13:114303796 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34
pathogenic
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34
not provided
GRCh37/hg19 13q34(chr13:114271714-114591051)x3 copy number gain not provided [RCV000846380] Chr13:114271714..114591051 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 copy number gain not provided [RCV000848672] Chr13:109203109..115107733 [GRCh37]
Chr13:13q33.3-34
uncertain significance
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q34(chr13:114270620-114808264)x3 copy number gain not provided [RCV000846305] Chr13:114270620..114808264 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:111568865-115107733)x1 copy number loss not provided [RCV000846886] Chr13:111568865..115107733 [GRCh37]
Chr13:13q34
pathogenic
NM_000705.4(ATP4B):c.424T>G (p.Phe142Val) single nucleotide variant not specified [RCV004318782] Chr13:113653004 [GRCh38]
Chr13:114307319 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
GRCh37/hg19 13q34(chr13:112069981-115107733)x3 copy number gain not provided [RCV001259172] Chr13:112069981..115107733 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13q34(chr13:110428062-115107733) copy number loss Neurodevelopmental delay [RCV002280627] Chr13:110428062..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NC_000013.11:g.109179481_114327244del deletion Factor X deficiency [RCV001818108] Chr13:109179481..114327244 [GRCh38]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733) copy number loss not specified [RCV002053083] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733) copy number loss not specified [RCV002053084] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104545892-115107733) copy number loss not specified [RCV002053082] Chr13:104545892..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q34(chr13:113626234-115107733)x3 copy number gain not provided [RCV001827936] Chr13:113626234..115107733 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733) copy number loss not specified [RCV002053077] Chr13:100258328..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q34(chr13:114263719-114861495)x3 copy number gain not provided [RCV001836540] Chr13:114263719..114861495 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:114086431-114753211)x3 copy number gain See cases [RCV002286361] Chr13:114086431..114753211 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34
pathogenic
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1 copy number loss not provided [RCV002474828] Chr13:97142120..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
NM_000705.4(ATP4B):c.604G>A (p.Ala202Thr) single nucleotide variant not specified [RCV004083887] Chr13:113651679 [GRCh38]
Chr13:114305994 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3 copy number gain not provided [RCV002475671] Chr13:99421603..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
NM_000705.4(ATP4B):c.178T>C (p.Tyr60His) single nucleotide variant not specified [RCV004156817] Chr13:113654877 [GRCh38]
Chr13:114309192 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.77C>T (p.Thr26Met) single nucleotide variant not specified [RCV004120327] Chr13:113658068 [GRCh38]
Chr13:114312383 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.37C>A (p.Arg13Ser) single nucleotide variant not specified [RCV004155742] Chr13:113658108 [GRCh38]
Chr13:114312423 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.808G>A (p.Val270Met) single nucleotide variant not specified [RCV004131417] Chr13:113649442 [GRCh38]
Chr13:114303757 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.865A>T (p.Ile289Phe) single nucleotide variant not specified [RCV004218381] Chr13:113649385 [GRCh38]
Chr13:114303700 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.220C>G (p.Gln74Glu) single nucleotide variant not specified [RCV004074737] Chr13:113654835 [GRCh38]
Chr13:114309150 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.778G>A (p.Ala260Thr) single nucleotide variant not specified [RCV004198639] Chr13:113649472 [GRCh38]
Chr13:114303787 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.662C>G (p.Pro221Arg) single nucleotide variant not specified [RCV004189043] Chr13:113650458 [GRCh38]
Chr13:114304773 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.623G>A (p.Arg208His) single nucleotide variant not specified [RCV004289584] Chr13:113650497 [GRCh38]
Chr13:114304812 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.464C>T (p.Thr155Met) single nucleotide variant not specified [RCV004252775] Chr13:113652964 [GRCh38]
Chr13:114307279 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.638C>T (p.Pro213Leu) single nucleotide variant not specified [RCV004260506] Chr13:113650482 [GRCh38]
Chr13:114304797 [GRCh37]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1 copy number loss Chromosome 13q33-q34 deletion syndrome [RCV003327641] Chr13:106425676..114326445 [GRCh38]
Chr13:13q33.3-34
pathogenic
NM_000705.4(ATP4B):c.497C>A (p.Ala166Glu) single nucleotide variant not specified [RCV004358844] Chr13:113652931 [GRCh38]
Chr13:114307246 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.139T>C (p.Phe47Leu) single nucleotide variant not specified [RCV004346917] Chr13:113654916 [GRCh38]
Chr13:114309231 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q34(chr13:114282014-114568288)x3 copy number gain not provided [RCV003484907] Chr13:114282014..114568288 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1 copy number loss not specified [RCV003987016] Chr13:106591678..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1 copy number loss not specified [RCV003987029] Chr13:103149209..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1 copy number loss not specified [RCV003987019] Chr13:104389334..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1 copy number loss not specified [RCV003987020] Chr13:105761074..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3 copy number gain not specified [RCV003987031] Chr13:106430837..114763645 [GRCh37]
Chr13:13q33.2-34
uncertain significance
GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1 copy number loss not specified [RCV003987036] Chr13:102421732..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q34(chr13:112071769-115107733)x3 copy number gain not provided [RCV004442810] Chr13:112071769..115107733 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.807C>A (p.His269Gln) single nucleotide variant not specified [RCV004418506] Chr13:113649443 [GRCh38]
Chr13:114303758 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.179A>G (p.Tyr60Cys) single nucleotide variant not specified [RCV004418502] Chr13:113654876 [GRCh38]
Chr13:114309191 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.857A>G (p.Lys286Arg) single nucleotide variant not specified [RCV004418507] Chr13:113649393 [GRCh38]
Chr13:114303708 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.497C>T (p.Ala166Val) single nucleotide variant not specified [RCV004418504] Chr13:113652931 [GRCh38]
Chr13:114307246 [GRCh37]
Chr13:13q34
likely benign
NM_000705.4(ATP4B):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004418505] Chr13:113658140 [GRCh38]
Chr13:114312455 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.232C>T (p.Arg78Trp) single nucleotide variant not specified [RCV004418503] Chr13:113654823 [GRCh38]
Chr13:114309138 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:113158346-115091756)x1 copy number loss not provided [RCV003885459] Chr13:113158346..115091756 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3 copy number gain not provided [RCV004577499] Chr13:99892724..115108414 [GRCh37]
Chr13:13q32.3-34
pathogenic
NM_000705.4(ATP4B):c.712C>G (p.Gln238Glu) single nucleotide variant not specified [RCV004680093] Chr13:113650408 [GRCh38]
Chr13:114304723 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.248C>A (p.Thr83Asn) single nucleotide variant not specified [RCV004680094] Chr13:113653428 [GRCh38]
Chr13:114307743 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.50T>C (p.Phe17Ser) single nucleotide variant not specified [RCV004680096] Chr13:113658095 [GRCh38]
Chr13:114312410 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.667G>A (p.Gly223Ser) single nucleotide variant not specified [RCV004680088] Chr13:113650453 [GRCh38]
Chr13:114304768 [GRCh37]
Chr13:13q34
uncertain significance
NM_000705.4(ATP4B):c.362C>T (p.Ser121Phe) single nucleotide variant not specified [RCV004687731] Chr13:113653066 [GRCh38]
Chr13:114307381 [GRCh37]
Chr13:13q34
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:207
Count of miRNA genes:186
Interacting mature miRNAs:199
Transcripts:ENST00000335288
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-M75110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713114,303,409 - 114,303,648UniSTSGRCh37
GRCh3713114,303,437 - 114,303,574UniSTSGRCh37
Build 3613113,351,410 - 113,351,649RGDNCBI36
Celera1395,130,664 - 95,130,943RGD
Cytogenetic Map13q34UniSTS
HuRef1394,742,685 - 94,742,822UniSTS
HuRef1394,742,657 - 94,742,896UniSTS
GeneMap99-GB4 RH Map13322.08UniSTS
STS-M75110  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q34UniSTS
GeneMap99-GB4 RH Map13335.27UniSTS


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
renal system
reproductive system
respiratory system
sensory system
722 1800 1503 1264 3295 1400 1756 1 358 1073 231 1274 4183 3827 19 2602 654 1445 1301 131

Sequence


Ensembl Acc Id: ENST00000335288   ⟹   ENSP00000334216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,648,804 - 113,658,198 (-)Ensembl
RefSeq Acc Id: NM_000705   ⟹   NP_000696
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,648,804 - 113,658,198 (-)NCBI
GRCh3713114,303,119 - 114,312,513 (-)ENTREZGENE
Build 3613113,351,120 - 113,360,502 (-)NCBI Archive
HuRef1394,742,367 - 94,751,761 (-)ENTREZGENE
CHM1_113114,272,447 - 114,281,841 (-)NCBI
T2T-CHM13v2.013112,907,872 - 112,917,266 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000696 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35987 (Get FASTA)   NCBI Sequence Viewer  
  AAH29059 (Get FASTA)   NCBI Sequence Viewer  
  BAA23425 (Get FASTA)   NCBI Sequence Viewer  
  EAX09220 (Get FASTA)   NCBI Sequence Viewer  
  EAX09221 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334216
  ENSP00000334216.3
GenBank Protein P51164 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000696   ⟸   NM_000705
- UniProtKB: P51164 (UniProtKB/Swiss-Prot),   B1B0N8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000334216   ⟸   ENST00000335288

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51164-F1-model_v2 AlphaFold P51164 1-291 view protein structure

Promoters
RGD ID:7226917
Promoter ID:EPDNEW_H19203
Type:initiation region
Name:ATP4B_1
Description:ATPase H+/K+ transporting beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,658,198 - 113,658,258EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:820 AgrOrtholog
COSMIC ATP4B COSMIC
Ensembl Genes ENSG00000186009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335288 ENTREZGENE
  ENST00000335288.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  2.60.40.1660 UniProtKB/Swiss-Prot
GTEx ENSG00000186009 GTEx
HGNC ID HGNC:820 ENTREZGENE
Human Proteome Map ATP4B Human Proteome Map
InterPro Na/K_ATPase_sub_beta UniProtKB/Swiss-Prot
  Na/K_ATPase_sub_beta_sf UniProtKB/Swiss-Prot
KEGG Report hsa:496 UniProtKB/Swiss-Prot
NCBI Gene 496 ENTREZGENE
OMIM 137217 OMIM
PANTHER POTASSIUM-TRANSPORTING ATPASE SUBUNIT BETA UniProtKB/Swiss-Prot
  PTHR11523 UniProtKB/Swiss-Prot
Pfam Na_K-ATPase UniProtKB/Swiss-Prot
PharmGKB ATP4B RGD, PharmGKB
PROSITE ATPASE_NA_K_BETA_1 UniProtKB/Swiss-Prot
  ATPASE_NA_K_BETA_2 UniProtKB/Swiss-Prot
UniProt ATP4B_HUMAN UniProtKB/Swiss-Prot
  B1B0N8 ENTREZGENE
  P51164 ENTREZGENE
UniProt Secondary B1B0N8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 ATP4B  ATPase H+/K+ transporting subunit beta  ATP4B  ATPase H+/K+ transporting beta subunit  Symbol and/or name change 5135510 APPROVED
2016-02-16 ATP4B  ATPase H+/K+ transporting beta subunit  ATP4B  ATPase, H+/K+ exchanging, beta polypeptide  Symbol and/or name change 5135510 APPROVED