ITPKB (inositol-trisphosphate 3-kinase B) - Rat Genome Database

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Gene: ITPKB (inositol-trisphosphate 3-kinase B) Homo sapiens
Analyze
Symbol: ITPKB
Name: inositol-trisphosphate 3-kinase B
RGD ID: 1345915
HGNC Page HGNC:6179
Description: Enables inositol-1,4,5-trisphosphate 3-kinase activity. Involved in cellular response to calcium ion; inositol trisphosphate metabolic process; and phosphatidylinositol phosphate biosynthetic process. Located in cytoskeleton and endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: inositol 1,4,5-trisphosphate 3-kinase B; insP 3-kinase B; IP3 3-kinase B; IP3-3KB; IP3K; IP3K B; IP3K-B; IP3KB; PIG37; proliferation-inducing protein 37
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
GRCh381226,631,690 - 226,739,282 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1226,631,690 - 226,739,323 (-)EnsemblGRCh38hg38GRCh38
GRCh371226,819,391 - 226,926,983 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,886,014 - 224,991,818 (-)NCBINCBI36Build 36hg18NCBI36
Build 341223,126,126 - 223,231,930NCBI
Celera1200,010,306 - 200,117,787 (-)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1197,336,497 - 197,443,479 (-)NCBIHuRef
CHM1_11228,092,188 - 228,199,660 (-)NCBICHM1_1
T2T-CHM13v2.01225,819,873 - 225,927,469 (-)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

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytoskeleton  (IDA,IEA)
cytosol  (IEA,TAS)
endoplasmic reticulum  (IDA,IEA)
membrane  (IEA)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway 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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1330886   PMID:1654894   PMID:2176078   PMID:8889548   PMID:9374536   PMID:11104677   PMID:11846419   PMID:12477932   PMID:12747803   PMID:14702039   PMID:15489334   PMID:16189514  
PMID:16354157   PMID:16710414   PMID:16740130   PMID:19322201   PMID:19913121   PMID:20379614   PMID:20628086   PMID:21148483   PMID:21516116   PMID:21873635   PMID:22446005   PMID:22589738  
PMID:23060452   PMID:24401760   PMID:25416956   PMID:26496610   PMID:27485122   PMID:27582507   PMID:28611215   PMID:29507755   PMID:29509190   PMID:29871874   PMID:31081803   PMID:31182584  
PMID:31987846   PMID:32296183   PMID:32393512   PMID:33961781   PMID:34244037   PMID:34941261   PMID:36215168   PMID:36768321   PMID:36931259   PMID:37108169   PMID:38438346  


Genomics

Comparative Map Data
ITPKB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381226,631,690 - 226,739,282 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1226,631,690 - 226,739,323 (-)EnsemblGRCh38hg38GRCh38
GRCh371226,819,391 - 226,926,983 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,886,014 - 224,991,818 (-)NCBINCBI36Build 36hg18NCBI36
Build 341223,126,126 - 223,231,930NCBI
Celera1200,010,306 - 200,117,787 (-)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1197,336,497 - 197,443,479 (-)NCBIHuRef
CHM1_11228,092,188 - 228,199,660 (-)NCBICHM1_1
T2T-CHM13v2.01225,819,873 - 225,927,469 (-)NCBIT2T-CHM13v2.0
Itpkb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,156,655 - 180,252,367 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,158,050 - 180,252,367 (+)EnsemblGRCm39 Ensembl
GRCm381180,330,390 - 180,424,802 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,330,485 - 180,424,802 (+)EnsemblGRCm38mm10GRCm38
MGSCv371182,260,607 - 182,353,790 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361182,167,151 - 182,260,334 (+)NCBIMGSCv36mm8
Celera1187,393,960 - 187,488,842 (+)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.27NCBI
Itpkb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81394,601,072 - 94,696,180 (+)NCBIGRCr8
mRatBN7.21392,069,160 - 92,164,281 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1392,069,216 - 92,162,004 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1394,574,383 - 94,667,140 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01395,974,568 - 96,067,342 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01393,149,283 - 93,242,066 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01398,615,287 - 98,710,426 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1398,615,287 - 98,708,149 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013103,624,308 - 103,716,372 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41396,044,260 - 96,138,456 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11396,235,230 - 96,327,084 (+)NCBI
Celera1391,617,603 - 91,709,915 (+)NCBICelera
RH 3.4 Map13629.9RGD
Cytogenetic Map13q26NCBI
Itpkb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955489725,759 - 814,180 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955489726,641 - 814,180 (-)NCBIChiLan1.0ChiLan1.0
ITPKB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2122,799,337 - 22,907,636 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1122,747,787 - 22,856,066 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01202,091,263 - 202,198,880 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11207,084,883 - 207,191,692 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1207,084,883 - 207,191,678 (-)Ensemblpanpan1.1panPan2
ITPKB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1738,253,257 - 38,346,400 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl738,253,407 - 38,343,345 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha737,736,914 - 37,828,383 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0738,089,021 - 38,180,423 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl738,087,507 - 38,185,299 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1737,928,053 - 38,019,442 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0737,935,010 - 38,026,325 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0738,205,654 - 38,297,131 (+)NCBIUU_Cfam_GSD_1.0
Itpkb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934451,270,129 - 51,387,160 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365263,376,786 - 3,477,554 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365263,378,046 - 3,477,177 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITPKB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11014,362,883 - 14,469,586 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21016,758,349 - 16,763,114 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ITPKB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1253,009,464 - 3,117,729 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl253,009,353 - 3,118,235 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660553,015,041 - 3,123,072 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Itpkb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624807658,231 - 741,195 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624807658,334 - 741,018 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ITPKB
76 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002221.4(ITPKB):c.310G>A (p.Gly104Ser) single nucleotide variant not specified [RCV004306551] Chr1:226737149 [GRCh38]
Chr1:226924850 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.130C>T (p.Pro44Ser) single nucleotide variant not specified [RCV004288910] Chr1:226737329 [GRCh38]
Chr1:226925030 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.12(chr1:226810146-226836190)x3 copy number gain not provided [RCV000736886] Chr1:226810146..226836190 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NM_002221.4(ITPKB):c.2640C>G (p.Ser880=) single nucleotide variant not provided [RCV000964850] Chr1:226634872 [GRCh38]
Chr1:226822573 [GRCh37]
Chr1:1q42.12		 benign
NM_002221.4(ITPKB):c.959A>C (p.Asp320Ala) single nucleotide variant not provided [RCV000884163] Chr1:226736500 [GRCh38]
Chr1:226924201 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q42.12-42.13(chr1:226853676-227246753)x1 copy number loss not provided [RCV000845932] Chr1:226853676..227246753 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3 copy number gain not provided [RCV001005183] Chr1:226064744..226924455 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13		 pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln) single nucleotide variant Myeloproliferative neoplasm, unclassifiable [RCV002284271]|not specified [RCV003491071] Chr1:226735804 [GRCh38]
Chr1:226923505 [GRCh37]
Chr1:1q42.12		 likely pathogenic|benign
NM_002221.4(ITPKB):c.1776C>T (p.Asn592=) single nucleotide variant not provided [RCV000957792] Chr1:226735683 [GRCh38]
Chr1:226923384 [GRCh37]
Chr1:1q42.12		 benign
NM_002221.4(ITPKB):c.591C>A (p.Ser197Arg) single nucleotide variant not provided [RCV000957793] Chr1:226736868 [GRCh38]
Chr1:226924569 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser) single nucleotide variant Myeloproliferative neoplasm, unclassifiable [RCV002284266]|not specified [RCV003491070] Chr1:226737239 [GRCh38]
Chr1:226924940 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala) single nucleotide variant Myeloproliferative neoplasm, unclassifiable [RCV002284273]|not specified [RCV003491073] Chr1:226736237 [GRCh38]
Chr1:226923938 [GRCh37]
Chr1:1q42.12		 likely pathogenic|benign
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr) single nucleotide variant Myeloproliferative neoplasm, unclassifiable [RCV002284263]|not specified [RCV003491069] Chr1:226736495 [GRCh38]
Chr1:226924196 [GRCh37]
Chr1:1q42.12		 pathogenic|benign
NM_002221.4(ITPKB):c.518G>A (p.Arg173His) single nucleotide variant Myeloproliferative neoplasm, unclassifiable [RCV002284272]|not specified [RCV003491072] Chr1:226736941 [GRCh38]
Chr1:226924642 [GRCh37]
Chr1:1q42.12		 benign|uncertain significance
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1]) microsatellite Myeloproliferative neoplasm, unclassifiable [RCV002284270] Chr1:226737175..226737183 [GRCh38]
Chr1:226924876..226924884 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_002221.4(ITPKB):c.1133C>T (p.Pro378Leu) single nucleotide variant not specified [RCV004325333] Chr1:226736326 [GRCh38]
Chr1:226924027 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1273G>A (p.Glu425Lys) single nucleotide variant not specified [RCV004325334] Chr1:226736186 [GRCh38]
Chr1:226923887 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_225591005)_(227174438_?)dup duplication not provided [RCV001928108] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13		 pathogenic
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_002221.4(ITPKB):c.1906A>G (p.Thr636Ala) single nucleotide variant not specified [RCV004324178] Chr1:226735553 [GRCh38]
Chr1:226923254 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.758C>T (p.Ala253Val) single nucleotide variant not specified [RCV004144517] Chr1:226736701 [GRCh38]
Chr1:226924402 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1280G>C (p.Arg427Pro) single nucleotide variant not specified [RCV004138197] Chr1:226736179 [GRCh38]
Chr1:226923880 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1634C>T (p.Pro545Leu) single nucleotide variant not specified [RCV004240137] Chr1:226735825 [GRCh38]
Chr1:226923526 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.796C>T (p.Arg266Cys) single nucleotide variant not specified [RCV004219889] Chr1:226736663 [GRCh38]
Chr1:226924364 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.1171A>G (p.Lys391Glu) single nucleotide variant not specified [RCV004233693] Chr1:226736288 [GRCh38]
Chr1:226923989 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.428T>G (p.Val143Gly) single nucleotide variant not specified [RCV004126545] Chr1:226737031 [GRCh38]
Chr1:226924732 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_002221.4(ITPKB):c.566G>A (p.Arg189Lys) single nucleotide variant not specified [RCV004194637] Chr1:226736893 [GRCh38]
Chr1:226924594 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2126G>A (p.Arg709Lys) single nucleotide variant not specified [RCV004190152] Chr1:226647287 [GRCh38]
Chr1:226834988 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.2740G>A (p.Val914Ile) single nucleotide variant not specified [RCV004134829] Chr1:226634772 [GRCh38]
Chr1:226822473 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1615A>T (p.Ser539Cys) single nucleotide variant not specified [RCV004229643] Chr1:226735844 [GRCh38]
Chr1:226923545 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2716G>C (p.Glu906Gln) single nucleotide variant not provided [RCV004691527]|not specified [RCV004171682] Chr1:226634796 [GRCh38]
Chr1:226822497 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2323G>A (p.Glu775Lys) single nucleotide variant not specified [RCV004226739] Chr1:226642049 [GRCh38]
Chr1:226829750 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1027G>A (p.Val343Met) single nucleotide variant not specified [RCV004134291] Chr1:226736432 [GRCh38]
Chr1:226924133 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2029G>A (p.Ala677Thr) single nucleotide variant not specified [RCV004113795] Chr1:226648675 [GRCh38]
Chr1:226836376 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1373C>T (p.Ser458Leu) single nucleotide variant not specified [RCV004135389] Chr1:226736086 [GRCh38]
Chr1:226923787 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_002221.4(ITPKB):c.1085G>A (p.Gly362Glu) single nucleotide variant not specified [RCV004182087] Chr1:226736374 [GRCh38]
Chr1:226924075 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1414T>G (p.Ser472Ala) single nucleotide variant not specified [RCV004241191] Chr1:226736045 [GRCh38]
Chr1:226923746 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.749G>A (p.Gly250Asp) single nucleotide variant not specified [RCV004222609] Chr1:226736710 [GRCh38]
Chr1:226924411 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1817C>T (p.Thr606Met) single nucleotide variant not specified [RCV004091526] Chr1:226735642 [GRCh38]
Chr1:226923343 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1768C>T (p.Arg590Trp) single nucleotide variant not specified [RCV004241661] Chr1:226735691 [GRCh38]
Chr1:226923392 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1564C>T (p.Arg522Cys) single nucleotide variant not specified [RCV004099283] Chr1:226735895 [GRCh38]
Chr1:226923596 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.896G>A (p.Ser299Asn) single nucleotide variant not specified [RCV004239272] Chr1:226736563 [GRCh38]
Chr1:226924264 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.615G>C (p.Trp205Cys) single nucleotide variant not specified [RCV004091273] Chr1:226736844 [GRCh38]
Chr1:226924545 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.979T>C (p.Ser327Pro) single nucleotide variant not specified [RCV004097684] Chr1:226736480 [GRCh38]
Chr1:226924181 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.992G>T (p.Arg331Leu) single nucleotide variant not specified [RCV004115270] Chr1:226736467 [GRCh38]
Chr1:226924168 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.913G>A (p.Glu305Lys) single nucleotide variant not specified [RCV004134572] Chr1:226736546 [GRCh38]
Chr1:226924247 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1703C>T (p.Ala568Val) single nucleotide variant not specified [RCV004185023] Chr1:226735756 [GRCh38]
Chr1:226923457 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1775A>G (p.Asn592Ser) single nucleotide variant not specified [RCV004215762] Chr1:226735684 [GRCh38]
Chr1:226923385 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.1907C>T (p.Thr636Ile) single nucleotide variant not specified [RCV004095704] Chr1:226735552 [GRCh38]
Chr1:226923253 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.455C>G (p.Ala152Gly) single nucleotide variant not specified [RCV004096257] Chr1:226737004 [GRCh38]
Chr1:226924705 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2269A>G (p.Thr757Ala) single nucleotide variant not specified [RCV004252234] Chr1:226642103 [GRCh38]
Chr1:226829804 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.385A>G (p.Arg129Gly) single nucleotide variant not specified [RCV004275569] Chr1:226737074 [GRCh38]
Chr1:226924775 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.709C>T (p.Leu237Phe) single nucleotide variant not specified [RCV004311179] Chr1:226736750 [GRCh38]
Chr1:226924451 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.370C>T (p.Pro124Ser) single nucleotide variant not specified [RCV004357170] Chr1:226737089 [GRCh38]
Chr1:226924790 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1646C>G (p.Pro549Arg) single nucleotide variant not specified [RCV004349543] Chr1:226735813 [GRCh38]
Chr1:226923514 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.151G>A (p.Gly51Arg) single nucleotide variant ITPKB-related disorder [RCV003901022]|not specified [RCV004340576] Chr1:226737308 [GRCh38]
Chr1:226925009 [GRCh37]
Chr1:1q42.12		 likely benign|uncertain significance
NM_002221.4(ITPKB):c.1896C>T (p.Ala632=) single nucleotide variant not specified [RCV003489060] Chr1:226735563 [GRCh38]
Chr1:226923264 [GRCh37]
Chr1:1q42.12		 benign
NM_002221.4(ITPKB):c.2625+39C>T single nucleotide variant not specified [RCV003489220] Chr1:226637640 [GRCh38]
Chr1:226825341 [GRCh37]
Chr1:1q42.12		 benign
NM_002221.4(ITPKB):c.1244C>A (p.Pro415His) single nucleotide variant ITPKB-related disorder [RCV003394408]|not specified [RCV004364462] Chr1:226736215 [GRCh38]
Chr1:226923916 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2688C>T (p.Ile896=) single nucleotide variant not provided [RCV003414842] Chr1:226634824 [GRCh38]
Chr1:226822525 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.880G>T (p.Gly294Trp) single nucleotide variant not provided [RCV003414843] Chr1:226736579 [GRCh38]
Chr1:226924280 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.-8C>T single nucleotide variant not specified [RCV003489246] Chr1:226737466 [GRCh38]
Chr1:226925167 [GRCh37]
Chr1:1q42.12		 benign
NM_002221.4(ITPKB):c.1764C>T (p.Ser588=) single nucleotide variant not specified [RCV003489245] Chr1:226735695 [GRCh38]
Chr1:226923396 [GRCh37]
Chr1:1q42.12		 benign
NM_002221.4(ITPKB):c.526T>C (p.Ser176Pro) single nucleotide variant ITPKB-related disorder [RCV003962260] Chr1:226736933 [GRCh38]
Chr1:226924634 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.2833C>G (p.Leu945Val) single nucleotide variant ITPKB-related disorder [RCV003919575] Chr1:226634679 [GRCh38]
Chr1:226822380 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.1832C>T (p.Ser611Phe) single nucleotide variant not specified [RCV004398565] Chr1:226735627 [GRCh38]
Chr1:226923328 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2587A>G (p.Thr863Ala) single nucleotide variant not specified [RCV004398566] Chr1:226637717 [GRCh38]
Chr1:226825418 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002221.4(ITPKB):c.1261G>A (p.Val421Ile) single nucleotide variant not specified [RCV004398558] Chr1:226736198 [GRCh38]
Chr1:226923899 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1439C>T (p.Pro480Leu) single nucleotide variant not specified [RCV004398560] Chr1:226736020 [GRCh38]
Chr1:226923721 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.144C>G (p.Phe48Leu) single nucleotide variant not specified [RCV004398562] Chr1:226737315 [GRCh38]
Chr1:226925016 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.205C>G (p.Pro69Ala) single nucleotide variant not specified [RCV004633585] Chr1:226737254 [GRCh38]
Chr1:226924955 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.100C>G (p.Pro34Ala) single nucleotide variant not specified [RCV004398557] Chr1:226737359 [GRCh38]
Chr1:226925060 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1397T>C (p.Val466Ala) single nucleotide variant not specified [RCV004398559] Chr1:226736062 [GRCh38]
Chr1:226923763 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1799C>T (p.Ser600Phe) single nucleotide variant not specified [RCV004398563] Chr1:226735660 [GRCh38]
Chr1:226923361 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.336G>T (p.Gln112His) single nucleotide variant not specified [RCV004398567] Chr1:226737123 [GRCh38]
Chr1:226924824 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.530C>T (p.Pro177Leu) single nucleotide variant not specified [RCV004398568] Chr1:226736929 [GRCh38]
Chr1:226924630 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.633G>C (p.Glu211Asp) single nucleotide variant not specified [RCV004398570] Chr1:226736826 [GRCh38]
Chr1:226924527 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2209G>A (p.Asp737Asn) single nucleotide variant not specified [RCV004633586] Chr1:226647204 [GRCh38]
Chr1:226834905 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_225591005)_(227174438_?)del deletion not provided [RCV004579153] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 pathogenic
NM_002221.4(ITPKB):c.667C>A (p.Pro223Thr) single nucleotide variant not specified [RCV004633583] Chr1:226736792 [GRCh38]
Chr1:226924493 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.2278C>T (p.Arg760Trp) single nucleotide variant not specified [RCV004633581] Chr1:226642094 [GRCh38]
Chr1:226829795 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1454C>T (p.Ala485Val) single nucleotide variant not specified [RCV004633582] Chr1:226736005 [GRCh38]
Chr1:226923706 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002221.4(ITPKB):c.1342C>T (p.Pro448Ser) single nucleotide variant not specified [RCV004633584] Chr1:226736117 [GRCh38]
Chr1:226923818 [GRCh37]
Chr1:1q42.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3873
Count of miRNA genes:1041
Interacting mature miRNAs:1274
Transcripts:ENST00000272117, ENST00000366784, ENST00000429204
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407263430GWAS912406_Hbody height QTL GWAS912406 (human)1e-46body height (VT:0001253)body height (CMO:0000106)1226735563226735564Human
407108871GWAS757847_Hasthma, Eczematoid dermatitis, allergic rhinitis QTL GWAS757847 (human)7e-08asthma, Eczematoid dermatitis, allergic rhinitis1226727033226727034Human
407228928GWAS877904_Hallergic disease QTL GWAS877904 (human)2e-09asthma1226727033226727034Human
407328589GWAS977565_HAlzheimer disease, polygenic risk score QTL GWAS977565 (human)2e-08Alzheimer disease, polygenic risk score1226650807226650808Human
407009933GWAS658909_HParkinson disease QTL GWAS658909 (human)6e-08Parkinson disease1226728377226728378Human
407009426GWAS658402_HAbnormality of refraction QTL GWAS658402 (human)1e-12Abnormality of refraction1226736237226736238Human
407261335GWAS910311_Hcalcium measurement QTL GWAS910311 (human)1e-13calcium measurementblood calcium level (CMO:0000502)1226736237226736238Human
407056721GWAS705697_Heosinophil count QTL GWAS705697 (human)9e-14eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1226721532226721533Human
406945106GWAS594082_Heosinophil percentage of leukocytes QTL GWAS594082 (human)4e-13eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)1226721532226721533Human
406941466GWAS590442_Heosinophil count QTL GWAS590442 (human)4e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1226721532226721533Human
407111128GWAS760104_Hrespiratory system disease QTL GWAS760104 (human)1e-08respiratory system disease1226727033226727034Human
406901985GWAS550961_Hsusceptibility to mumps measurement QTL GWAS550961 (human)0.000003susceptibility to mumps measurement1226718218226718219Human
407110757GWAS759733_Heosinophil count QTL GWAS759733 (human)6e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1226727033226727034Human
407014308GWAS663284_Hbody height QTL GWAS663284 (human)8e-11body height (VT:0001253)body height (CMO:0000106)1226725190226725191Human
406957926GWAS606902_Hsubcutaneous adipose tissue measurement QTL GWAS606902 (human)0.000006subcutaneous adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)1226668188226668189Human
407212770GWAS861746_HHypermetropia QTL GWAS861746 (human)0.0000009Hypermetropia1226721532226721533Human
407115180GWAS764156_Hdentures QTL GWAS764156 (human)1e-08dentures1226681217226681218Human
407393250GWAS1042226_Hurate measurement, bone density QTL GWAS1042226 (human)4e-11bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1226733582226733592Human
406998254GWAS647230_HParkinson disease QTL GWAS647230 (human)3e-24Parkinson disease1226728377226728378Human
407114217GWAS763193_Hdental caries, dentures QTL GWAS763193 (human)3e-08dental caries, dentures1226681217226681218Human
407133930GWAS782906_HParkinson disease QTL GWAS782906 (human)2e-11Parkinson disease1226728377226728378Human
407316279GWAS965255_Hcalcium measurement QTL GWAS965255 (human)8e-12calcium measurementblood calcium level (CMO:0000502)1226728377226728378Human
407370677GWAS1019653_HParkinson disease QTL GWAS1019653 (human)8e-10Parkinson disease1226659011226659012Human
407250047GWAS899023_Hasthma QTL GWAS899023 (human)2e-10asthma1226727033226727034Human
407345278GWAS994254_Heosinophil count QTL GWAS994254 (human)7e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1226721532226721533Human
406931263GWAS580239_Hmeningitis QTL GWAS580239 (human)4e-12meningitis1226632904226632905Human
407158907GWAS807883_HParkinson disease QTL GWAS807883 (human)1e-15Parkinson disease1226728377226728378Human

Markers in Region
D1S2415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,821,148 - 226,821,267UniSTSGRCh37
Build 361224,887,771 - 224,887,890RGDNCBI36
Celera1200,012,063 - 200,012,182RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,338,253 - 197,338,372UniSTS
GeneMap99-GB4 RH Map1715.2UniSTS
Whitehead-RH Map1885.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map12059.8UniSTS
D1S2498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,822,379 - 226,822,515UniSTSGRCh37
Build 361224,889,002 - 224,889,138RGDNCBI36
Celera1200,013,294 - 200,013,430RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,339,484 - 197,339,620UniSTS
SHGC-146077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,831,098 - 226,831,440UniSTSGRCh37
Build 361224,897,721 - 224,898,063RGDNCBI36
Celera1200,022,014 - 200,022,356RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,347,833 - 197,348,175UniSTS
TNG Radiation Hybrid Map1113416.0UniSTS
SHGC-146114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,871,436 - 226,871,722UniSTSGRCh37
Build 361224,938,059 - 224,938,345RGDNCBI36
Celera1200,062,353 - 200,062,639RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,388,171 - 197,388,457UniSTS
TNG Radiation Hybrid Map1113401.0UniSTS
D1S2232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,910,800 - 226,911,026UniSTSGRCh37
Build 361224,977,423 - 224,977,649RGDNCBI36
Celera1200,101,711 - 200,101,937RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,427,425 - 197,427,651UniSTS
TNG Radiation Hybrid Map1113376.0UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
NCBI RH Map12074.2UniSTS
SHGC-56734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,856,067 - 226,856,170UniSTSGRCh37
Build 361224,922,690 - 224,922,793RGDNCBI36
Celera1200,046,984 - 200,047,087RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,372,801 - 197,372,904UniSTS
TNG Radiation Hybrid Map1113396.0UniSTS
SHGC-76437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,914,467 - 226,914,628UniSTSGRCh37
Build 361224,981,090 - 224,981,251RGDNCBI36
Celera1200,105,378 - 200,105,539RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,431,092 - 197,431,253UniSTS
TNG Radiation Hybrid Map1113364.0UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
NCBI RH Map12074.2UniSTS
RH18113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,819,662 - 226,819,878UniSTSGRCh37
Build 361224,886,285 - 224,886,501RGDNCBI36
Celera1200,010,577 - 200,010,793RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,336,767 - 197,336,983UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
SHGC-76461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,828,108 - 226,828,298UniSTSGRCh37
Build 361224,894,731 - 224,894,921RGDNCBI36
Celera1200,019,024 - 200,019,214RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,345,216 - 197,345,406UniSTS
TNG Radiation Hybrid Map1113507.0UniSTS
GeneMap99-GB4 RH Map1720.39UniSTS
SHGC-30224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,819,421 - 226,819,566UniSTSGRCh37
Build 361224,886,044 - 224,886,189RGDNCBI36
Celera1200,010,336 - 200,010,481RGD
Cytogenetic Map1q42.13UniSTS
HuRef1197,336,527 - 197,336,671UniSTS
Stanford-G3 RH Map18956.0UniSTS
GeneMap99-GB4 RH Map1722.62UniSTS
Whitehead-RH Map1880.5UniSTS
NCBI RH Map12059.8UniSTS
GeneMap99-G3 RH Map18912.0UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
AU049926  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.13UniSTS
HuRef1197,414,471 - 197,415,906UniSTS


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 2439 2788 2253 4974 1722 2347 6 620 1951 461 2270 7300 6472 53 3734 1 850 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001388404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ242780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY513281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC086865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM972039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ434913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ434930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000272117   ⟹   ENSP00000272117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,631,690 - 226,737,829 (-)Ensembl
Ensembl Acc Id: ENST00000366784   ⟹   ENSP00000355748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,707,190 - 226,739,323 (-)Ensembl
Ensembl Acc Id: ENST00000429204   ⟹   ENSP00000411152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,631,690 - 226,739,282 (-)Ensembl
RefSeq Acc Id: NM_001388404   ⟹   NP_001375333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,707,170 - 226,739,282 (-)NCBI
T2T-CHM13v2.01225,895,356 - 225,927,469 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002221   ⟹   NP_002212
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,631,690 - 226,739,282 (-)NCBI
GRCh371226,819,391 - 226,927,028 (-)NCBI
Build 361224,886,014 - 224,991,818 (-)NCBI Archive
HuRef1197,336,497 - 197,443,479 (-)ENTREZGENE
CHM1_11228,092,188 - 228,199,660 (-)NCBI
T2T-CHM13v2.01225,819,873 - 225,927,469 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001211   ⟹   XP_016856700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,726,764 - 226,739,282 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336425   ⟹   XP_054192400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01225,913,294 - 225,927,469 (-)NCBI
RefSeq Acc Id: NP_002212   ⟸   NM_002221
- Peptide Label: isoform 1
- UniProtKB: Q96JS1 (UniProtKB/Swiss-Prot),   Q96BZ2 (UniProtKB/Swiss-Prot),   Q5VWM0 (UniProtKB/Swiss-Prot),   Q5VWL9 (UniProtKB/Swiss-Prot),   Q9UH47 (UniProtKB/Swiss-Prot),   P27987 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856700   ⟸   XM_017001211
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000411152   ⟸   ENST00000429204
Ensembl Acc Id: ENSP00000272117   ⟸   ENST00000272117
Ensembl Acc Id: ENSP00000355748   ⟸   ENST00000366784
RefSeq Acc Id: NP_001375333   ⟸   NM_001388404
- Peptide Label: isoform 2
RefSeq Acc Id: XP_054192400   ⟸   XM_054336425
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P27987-F1-model_v2 AlphaFold P27987 1-946 view protein structure

Promoters
RGD ID:6809581
Promoter ID:HG_ACW:6094
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ITPKB.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,957,651 - 224,958,151 (-)MPROMDB
RGD ID:6785807
Promoter ID:HG_KWN:7625
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:UC001HQG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,990,071 - 224,992,952 (-)MPROMDB
RGD ID:6785808
Promoter ID:HG_KWN:7626
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366784,   NM_002221
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,993,331 - 224,993,831 (-)MPROMDB
RGD ID:6859148
Promoter ID:EPDNEW_H2738
Type:initiation region
Name:ITPKB_2
Description:inositol-trisphosphate 3-kinase B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2739  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,737,374 - 226,737,434EPDNEW
RGD ID:6859150
Promoter ID:EPDNEW_H2739
Type:initiation region
Name:ITPKB_1
Description:inositol-trisphosphate 3-kinase B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2738  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,739,280 - 226,739,340EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6179 AgrOrtholog
COSMIC ITPKB COSMIC
Ensembl Genes ENSG00000143772 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000272117.8 UniProtKB/Swiss-Prot
  ENST00000366784 ENTREZGENE
  ENST00000366784.1 UniProtKB/Swiss-Prot
  ENST00000429204 ENTREZGENE
  ENST00000429204.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.470.160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143772 GTEx
HGNC ID HGNC:6179 ENTREZGENE
Human Proteome Map ITPKB Human Proteome Map
InterPro IPK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPK_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3707 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3707 ENTREZGENE
OMIM 147522 OMIM
PANTHER INOSITOL-TRISPHOSPHATE 3-KINASE B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12400 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IPK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29976 PharmGKB
Superfamily-SCOP SAICAR synthase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R9J0_HUMAN UniProtKB/TrEMBL
  IP3KB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VWL9 ENTREZGENE
  Q5VWM0 ENTREZGENE
  Q96BZ2 ENTREZGENE
  Q96JS1 ENTREZGENE
  Q9UH47 ENTREZGENE
UniProt Secondary Q5VWL9 UniProtKB/Swiss-Prot
  Q5VWM0 UniProtKB/Swiss-Prot
  Q96BZ2 UniProtKB/Swiss-Prot
  Q96JS1 UniProtKB/Swiss-Prot
  Q9UH47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ITPKB  inositol-trisphosphate 3-kinase B  ITPKB  inositol 1,4,5-trisphosphate 3-kinase B  Symbol and/or name change 5135510 APPROVED