PIP5K1B (phosphatidylinositol-4-phosphate 5-kinase type 1 beta) - Rat Genome Database

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Gene: PIP5K1B (phosphatidylinositol-4-phosphate 5-kinase type 1 beta) Homo sapiens
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Symbol: PIP5K1B
Name: phosphatidylinositol-4-phosphate 5-kinase type 1 beta
RGD ID: 1322093
HGNC Page HGNC:8995
Description: Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MSS4; phosphatidylinositol 4-phosphate 5-kinase type I beta; phosphatidylinositol 4-phosphate 5-kinase type-1 beta; phosphatidylinositol-4-phosphate 5-kinase type-1 beta; phosphatidylinositol-4-phosphate 5-kinase, type I, beta; PIP5K1-beta; PIP5KIbeta; protein STM-7; ptdIns(4)P-5-kinase 1 beta; STM7; type I phosphatidylinositol 4-phosphate 5-kinase beta; type I phosphatidylinositol-4-phosphate 5-kinase beta
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
GRCh38968,705,240 - 69,009,176 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl968,705,240 - 69,009,176 (+)EnsemblGRCh38hg38GRCh38
GRCh37971,320,156 - 71,624,092 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,510,436 - 70,813,911 (+)NCBINCBI36Build 36hg18NCBI36
Build 34968,550,169 - 68,853,645NCBI
Celera941,915,824 - 42,219,303 (+)NCBICelera
Cytogenetic Map9q21.11NCBI
HuRef941,165,900 - 41,469,522 (+)NCBIHuRef
CHM1_1971,504,648 - 71,771,284 (+)NCBICHM1_1
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IEA,TAS)
endomembrane system  (IEA)
plasma membrane  (IBA,IEA)
uropod  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7581382   PMID:8841185   PMID:8889548   PMID:8955136   PMID:9177790   PMID:12477932   PMID:14614850   PMID:14701839   PMID:15046600   PMID:15164053   PMID:15489334   PMID:17353931  
PMID:18158329   PMID:18981107   PMID:19553680   PMID:19850283   PMID:20379614   PMID:20383146   PMID:20442317   PMID:20624912   PMID:21873635   PMID:23192594   PMID:23470693   PMID:23552101  
PMID:25713054   PMID:28581524   PMID:29331416   PMID:29507755   PMID:29845934   PMID:31586073   PMID:33961781   PMID:38350542  


Genomics

Comparative Map Data
PIP5K1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38968,705,240 - 69,009,176 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl968,705,240 - 69,009,176 (+)EnsemblGRCh38hg38GRCh38
GRCh37971,320,156 - 71,624,092 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,510,436 - 70,813,911 (+)NCBINCBI36Build 36hg18NCBI36
Build 34968,550,169 - 68,853,645NCBI
Celera941,915,824 - 42,219,303 (+)NCBICelera
Cytogenetic Map9q21.11NCBI
HuRef941,165,900 - 41,469,522 (+)NCBIHuRef
CHM1_1971,504,648 - 71,771,284 (+)NCBICHM1_1
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBIT2T-CHM13v2.0
Pip5k1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391924,272,158 - 24,533,236 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1924,272,158 - 24,533,236 (-)EnsemblGRCm39 Ensembl
GRCm381924,294,794 - 24,555,872 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1924,294,794 - 24,555,872 (-)EnsemblGRCm38mm10GRCm38
MGSCv371924,369,286 - 24,630,317 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361924,361,977 - 24,510,782 (-)NCBIMGSCv36mm8
Celera1925,104,522 - 25,214,381 (-)NCBICelera
Cytogenetic Map19BNCBI
cM Map1919.44NCBI
Pip5k1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81231,331,836 - 231,610,092 (-)NCBIGRCr8
mRatBN7.21221,907,220 - 222,183,672 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,914,159 - 222,183,672 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1230,369,147 - 230,646,187 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01237,299,204 - 237,576,248 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01230,117,216 - 230,394,255 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01242,168,462 - 242,441,247 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1242,168,462 - 242,441,247 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01249,441,813 - 249,714,561 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,689,733 - 227,961,671 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11227,853,757 - 228,125,694 (-)NCBI
Celera1219,125,142 - 219,393,745 (-)NCBICelera
Cytogenetic Map1q51NCBI
Pip5k1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554344,019,847 - 4,315,072 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554344,020,219 - 4,315,072 (-)NCBIChiLan1.0ChiLan1.0
PIP5K1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21167,915,492 - 68,220,995 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1967,921,432 - 68,226,933 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0955,780,820 - 56,086,322 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1967,469,995 - 67,774,460 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl967,550,399 - 67,774,460 (+)Ensemblpanpan1.1panPan2
PIP5K1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1188,359,176 - 88,625,347 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl188,359,795 - 88,625,302 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha188,826,420 - 89,132,335 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0188,905,302 - 89,211,427 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl188,905,298 - 89,171,398 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1188,560,063 - 88,860,212 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0188,266,672 - 88,566,896 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0189,033,119 - 89,332,602 (-)NCBIUU_Cfam_GSD_1.0
Pip5k1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947135,868,446 - 135,986,236 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365035,137,184 - 5,290,271 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365035,189,450 - 5,304,494 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIP5K1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,164,076 - 222,379,043 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11222,038,842 - 222,379,114 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21248,344,255 - 248,617,781 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIP5K1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11279,801,633 - 80,107,227 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1279,960,426 - 80,042,314 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603868,207,404 - 68,513,966 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pip5k1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247364,060,590 - 4,286,422 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247364,060,697 - 4,410,592 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIP5K1B
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1 copy number loss See cases [RCV000052904] Chr9:68426796..69606104 [GRCh38]
Chr9:71130848..72221020 [GRCh37]
Chr9:70231532..71410840 [NCBI36]
Chr9:9q21.11-21.12		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002732.3(PRKACG):c.213C>T (p.Ala71=) single nucleotide variant Malignant melanoma [RCV000061951] Chr9:69013880 [GRCh38]
Chr9:71628796 [GRCh37]
Chr9:70818616 [NCBI36]
Chr9:9q21.11		 not provided
NM_001278253.1(PIP5K1B):c.69+13300A>T single nucleotide variant Lung cancer [RCV000108342] Chr9:68835983 [GRCh38]
Chr9:71450899 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001278253.1(PIP5K1B):c.69+15609C>T single nucleotide variant Lung cancer [RCV000108343] Chr9:68838292 [GRCh38]
Chr9:71453208 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001278253.1(PIP5K1B):c.1503-16858T>C single nucleotide variant Lung cancer [RCV000108344] Chr9:68991589 [GRCh38]
Chr9:71606505 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 copy number loss See cases [RCV000137529] Chr9:68420349..70939579 [GRCh38]
Chr9:71130848..73554495 [GRCh37]
Chr9:70225085..72744315 [NCBI36]
Chr9:9q21.11-21.12		 likely pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3 copy number gain See cases [RCV000140627] Chr9:68991449..69164502 [GRCh38]
Chr9:71606365..71779418 [GRCh37]
Chr9:70796185..70969238 [NCBI36]
Chr9:9q21.11		 uncertain significance
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3 copy number gain See cases [RCV000143167] Chr9:68802194..69342807 [GRCh38]
Chr9:71417110..71957723 [GRCh37]
Chr9:70606930..71147543 [NCBI36]
Chr9:9q21.11-21.12		 uncertain significance
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 copy number gain See cases [RCV000143753] Chr9:68624483..72028837 [GRCh38]
Chr9:71239399..74643753 [GRCh37]
Chr9:70429219..73833573 [NCBI36]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71395668-71944494)x3 copy number gain See cases [RCV000240188] Chr9:71395668..71944494 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71407596-71733655)x3 copy number gain See cases [RCV000446460] Chr9:71407596..71733655 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71599176-71849431)x3 copy number gain See cases [RCV000448375] Chr9:71599176..71849431 [GRCh37]
Chr9:9q21.11		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71515614-71991318)x3 copy number gain See cases [RCV000511272] Chr9:71515614..71991318 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71395537-71967664)x3 copy number gain See cases [RCV000511186] Chr9:71395537..71967664 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.32A>G (p.Glu11Gly) single nucleotide variant not specified [RCV004298863] Chr9:68780196 [GRCh38]
Chr9:71395112 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_003558.4(PIP5K1B):c.1609G>C (p.Asp537His) single nucleotide variant not specified [RCV004311060] Chr9:68991246 [GRCh38]
Chr9:71606162 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele duplication not provided [RCV000677946] Chr9:71606365..71821182 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71612891-71651605)x3 copy number gain not provided [RCV000748455] Chr9:71612891..71651605 [GRCh37]
Chr9:9q21.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_003558.4(PIP5K1B):c.1619T>C (p.Leu540Ser) single nucleotide variant not specified [RCV004311061] Chr9:68991256 [GRCh38]
Chr9:71606172 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71415902-71996013)x3 copy number gain not provided [RCV000848744] Chr9:71415902..71996013 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71458419-71776105)x3 copy number gain not provided [RCV000846063] Chr9:71458419..71776105 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71415902-71971195)x3 copy number gain not provided [RCV000847541] Chr9:71415902..71971195 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71221738-71660766)x3 copy number gain not provided [RCV000847751] Chr9:71221738..71660766 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71533382-71987060)x3 copy number gain not provided [RCV000846790] Chr9:71533382..71987060 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.-68C>G single nucleotide variant not provided [RCV000949536] Chr9:68780097 [GRCh38]
Chr9:71395013 [GRCh37]
Chr9:9q21.11		 benign
GRCh37/hg19 9q21.11(chr9:71496157-71893866)x1 copy number loss not provided [RCV002473605] Chr9:71496157..71893866 [GRCh37]
Chr9:9q21.11		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_138333.5(PABIR1):c.398C>G (p.Ser133Cys) single nucleotide variant not specified [RCV004292271] Chr9:68780562 [GRCh38]
Chr9:71395478 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_003558.4(PIP5K1B):c.1598C>G (p.Ala533Gly) single nucleotide variant not specified [RCV004200581] Chr9:68991235 [GRCh38]
Chr9:71606151 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1406T>A (p.Leu469Gln) single nucleotide variant not specified [RCV004139697] Chr9:68940694 [GRCh38]
Chr9:71555610 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 copy number gain not provided [RCV002475692] Chr9:70966262..76901382 [GRCh37]
Chr9:9q21.11-21.13		 uncertain significance
NM_003558.4(PIP5K1B):c.1025T>A (p.Leu342Gln) single nucleotide variant not specified [RCV004177181] Chr9:68919520 [GRCh38]
Chr9:71534436 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.334G>C (p.Glu112Gln) single nucleotide variant not specified [RCV004227149] Chr9:68888996 [GRCh38]
Chr9:71503912 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.202G>A (p.Glu68Lys) single nucleotide variant not specified [RCV004151912] Chr9:68876678 [GRCh38]
Chr9:71491594 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.415A>G (p.Thr139Ala) single nucleotide variant not specified [RCV004083985] Chr9:68889077 [GRCh38]
Chr9:71503993 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1370G>A (p.Arg457Gln) single nucleotide variant not specified [RCV004243650] Chr9:68940658 [GRCh38]
Chr9:71555574 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1309C>T (p.Arg437Trp) single nucleotide variant not specified [RCV004202779] Chr9:68934997 [GRCh38]
Chr9:71549913 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1255G>A (p.Ala419Thr) single nucleotide variant not specified [RCV004085087] Chr9:68934943 [GRCh38]
Chr9:71549859 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1612G>A (p.Val538Ile) single nucleotide variant not specified [RCV004243944] Chr9:68991249 [GRCh38]
Chr9:71606165 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1157G>C (p.Arg386Thr) single nucleotide variant not specified [RCV004154544] Chr9:68923342 [GRCh38]
Chr9:71538258 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1526C>A (p.Thr509Lys) single nucleotide variant not specified [RCV004224896] Chr9:68991163 [GRCh38]
Chr9:71606079 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1228C>T (p.Arg410Trp) single nucleotide variant not specified [RCV004256509] Chr9:68934916 [GRCh38]
Chr9:71549832 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh38/hg38 9q21.11(chr9:68417620-68744894) copy number gain Anomalous pulmonary venous return [RCV003223572] Chr9:68417620..68744894 [GRCh38]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.706G>T (p.Gly236Cys) single nucleotide variant not specified [RCV004272272] Chr9:68780870 [GRCh38]
Chr9:71395786 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.892G>T (p.Gly298Trp) single nucleotide variant not specified [RCV004271840] Chr9:68917668 [GRCh38]
Chr9:71532584 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.196C>T (p.Pro66Ser) single nucleotide variant not specified [RCV004345615] Chr9:68780360 [GRCh38]
Chr9:71395276 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.855G>A (p.Glu285=) single nucleotide variant not provided [RCV003992874] Chr9:68917631 [GRCh38]
Chr9:71532547 [GRCh37]
Chr9:9q21.11		 likely benign
NM_138333.5(PABIR1):c.371G>C (p.Ser124Thr) single nucleotide variant not specified [RCV004497635] Chr9:68780535 [GRCh38]
Chr9:71395451 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.397T>A (p.Ser133Thr) single nucleotide variant not specified [RCV004497637] Chr9:68780561 [GRCh38]
Chr9:71395477 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.47C>T (p.Thr16Met) single nucleotide variant not specified [RCV004497638] Chr9:68780211 [GRCh38]
Chr9:71395127 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.377A>G (p.Asn126Ser) single nucleotide variant not specified [RCV004497636] Chr9:68780541 [GRCh38]
Chr9:71395457 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.745A>C (p.Ser249Arg) single nucleotide variant not specified [RCV004497640] Chr9:68780909 [GRCh38]
Chr9:71395825 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.185G>A (p.Ser62Asn) single nucleotide variant not specified [RCV004497634] Chr9:68780349 [GRCh38]
Chr9:71395265 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.718T>C (p.Ser240Pro) single nucleotide variant not specified [RCV004497639] Chr9:68780882 [GRCh38]
Chr9:71395798 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1018G>A (p.Glu340Lys) single nucleotide variant not specified [RCV004506068] Chr9:68919513 [GRCh38]
Chr9:71534429 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1190A>G (p.Lys397Arg) single nucleotide variant not specified [RCV004506069] Chr9:68923375 [GRCh38]
Chr9:71538291 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.1456G>A (p.Val486Ile) single nucleotide variant not specified [RCV004506070] Chr9:68940744 [GRCh38]
Chr9:71555660 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.29C>A (p.Ala10Glu) single nucleotide variant not specified [RCV004506072] Chr9:68822643 [GRCh38]
Chr9:71437559 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.386T>C (p.Val129Ala) single nucleotide variant not specified [RCV004506073] Chr9:68889048 [GRCh38]
Chr9:71503964 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.896T>C (p.Met299Thr) single nucleotide variant not specified [RCV004506074] Chr9:68917672 [GRCh38]
Chr9:71532588 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.591T>G (p.Ser197Arg) single nucleotide variant not specified [RCV004663973] Chr9:68780755 [GRCh38]
Chr9:71395671 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.975C>A (p.Asn325Lys) single nucleotide variant not specified [RCV004648295] Chr9:68917751 [GRCh38]
Chr9:71532667 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_003558.4(PIP5K1B):c.581G>A (p.Arg194His) single nucleotide variant not specified [RCV004648294] Chr9:68894448 [GRCh38]
Chr9:71509364 [GRCh37]
Chr9:9q21.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1482
Count of miRNA genes:704
Interacting mature miRNAs:804
Transcripts:ENST00000265382, ENST00000377284, ENST00000437200, ENST00000440050, ENST00000472907, ENST00000474356, ENST00000478500, ENST00000541509
Prediction methods:Microtar, 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
407050178GWAS699154_Hserine measurement QTL GWAS699154 (human)0.0000005serine measurementblood amino acid measurement (CMO:0003730)96899934068999341Human
597031575GWAS1127649_Hglomerular filtration rate QTL GWAS1127649 (human)1e-40glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
597586332GWAS1643192_Hcreatinine measurement QTL GWAS1643192 (human)2e-41creatinine measurementblood creatinine measurement (CMO:0000767)96881725868817259Human
597287067GWAS1383141_Hcreatinine measurement QTL GWAS1383141 (human)2e-13creatinine measurementblood creatinine measurement (CMO:0000767)96894346168943462Human
597596573GWAS1653433_Hcreatinine measurement QTL GWAS1653433 (human)9e-13creatinine measurementblood creatinine measurement (CMO:0000767)96881725868817259Human
597161876GWAS1257950_Hcreatinine measurement QTL GWAS1257950 (human)1e-11creatinine measurementblood creatinine measurement (CMO:0000767)96881979168819792Human
597601688GWAS1658548_Hcalcium measurement QTL GWAS1658548 (human)1e-20calcium measurementblood calcium level (CMO:0000502)96889904668899047Human
597025298GWAS1121372_Hglomerular filtration rate QTL GWAS1121372 (human)1e-23glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
597310621GWAS1406695_Hcreatinine measurement QTL GWAS1406695 (human)4e-52creatinine measurementblood creatinine measurement (CMO:0000767)96881979168819792Human
597066266GWAS1162340_Hcreatinine measurement, glomerular filtration rate QTL GWAS1162340 (human)4e-18creatinine measurement, glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597317782GWAS1413856_Hglomerular filtration rate QTL GWAS1413856 (human)1e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597330964GWAS1427038_Hglomerular filtration rate QTL GWAS1427038 (human)2e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)96881829668818297Human
597139480GWAS1235554_Hcreatinine measurement QTL GWAS1235554 (human)2e-14creatinine measurementblood creatinine measurement (CMO:0000767)96881625868816259Human
597092743GWAS1188817_Hcreatinine measurement, glomerular filtration rate QTL GWAS1188817 (human)7e-15creatinine measurement, glomerular filtration rateglomerular filtration rate (CMO:0000490)96881979168819792Human
597581196GWAS1638056_Hcalcium measurement QTL GWAS1638056 (human)2e-16calcium measurementblood calcium level (CMO:0000502)96889807368898074Human
597195661GWAS1291735_Hglomerular filtration rate QTL GWAS1291735 (human)2e-78glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597600517GWAS1657377_Hblood bicarbonate measurement QTL GWAS1657377 (human)2e-11blood bicarbonate measurement96881979168819792Human
597416326GWAS1512400_Hgout QTL GWAS1512400 (human)1e-09gout96879572968795730Human
597102089GWAS1198163_Hplatelet component distribution width QTL GWAS1198163 (human)2e-11platelet component distribution widthplatelet distribution width (CMO:0001350)96899903168999032Human
597124616GWAS1220690_Hcalcium measurement QTL GWAS1220690 (human)3e-22calcium measurementblood calcium level (CMO:0000502)96885221968852220Human
597223943GWAS1320017_Hcreatinine measurement QTL GWAS1320017 (human)4e-10creatinine measurementblood creatinine measurement (CMO:0000767)96892546068925461Human
596960308GWAS1079827_Hglomerular filtration rate QTL GWAS1079827 (human)4e-71glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
596960564GWAS1080083_Hglomerular filtration rate QTL GWAS1080083 (human)4e-38glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597600062GWAS1656922_Hblood bicarbonate measurement QTL GWAS1656922 (human)5e-17blood bicarbonate measurement96881979168819792Human
597147701GWAS1243775_Hbody mass index QTL GWAS1243775 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)96886952368869524Human
597127348GWAS1223422_Hurate measurement QTL GWAS1223422 (human)5e-13urate measurementblood uric acid level (CMO:0000501)96881979168819792Human
597025598GWAS1121672_Hchronic kidney disease QTL GWAS1121672 (human)5e-08chronic kidney disease96881725868817259Human
597215924GWAS1311998_Hfibroblast growth factor 23 measurement QTL GWAS1311998 (human)2e-12fibroblast growth factor 23 measurement96881979168819792Human
597221940GWAS1318014_Hcystatin C measurement QTL GWAS1318014 (human)3e-15cystatin C measurementblood cystatin C level (CMO:0002777)96882443368824434Human
597288116GWAS1384190_Hblood urea nitrogen measurement QTL GWAS1384190 (human)6e-10blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)96881725868817259Human
597246004GWAS1342078_Hblood phosphate measurement QTL GWAS1342078 (human)6e-16blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)96882443368824434Human
597343925GWAS1439999_Hblood mercury measurement QTL GWAS1439999 (human)0.000003blood mercury measurement96886856568868566Human
597029690GWAS1125764_Hresponse to angiotensin-converting enzyme inhibitor QTL GWAS1125764 (human)0.000006response to angiotensin-converting enzyme inhibitor96894346168943462Human
597586734GWAS1643594_Hglomerular filtration rate QTL GWAS1643594 (human)8e-28glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
597029671GWAS1125745_Hglomerular filtration rate QTL GWAS1125745 (human)2e-62glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
597224492GWAS1320566_Hcreatinine measurement QTL GWAS1320566 (human)3e-13creatinine measurementblood creatinine measurement (CMO:0000767)96876535168765352Human
597596331GWAS1653191_Hcreatinine measurement QTL GWAS1653191 (human)5e-12creatinine measurementblood creatinine measurement (CMO:0000767)96881725868817259Human
597065774GWAS1161848_Hglomerular filtration rate QTL GWAS1161848 (human)3e-11glomerular filtration rateglomerular filtration rate (CMO:0000490)96881979168819792Human
597111214GWAS1207288_Hglomerular filtration rate QTL GWAS1207288 (human)7e-31glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
407022073GWAS671049_Hcreatinine measurement, chronic kidney disease QTL GWAS671049 (human)8e-14creatinine measurement, chronic kidney diseaseblood creatinine measurement (CMO:0000767)96881979168819792Human
597348129GWAS1444203_Hurate measurement QTL GWAS1444203 (human)3e-08urate measurementblood uric acid level (CMO:0000501)96881979168819792Human
597047466GWAS1143540_Hcranial vault morphology measurement QTL GWAS1143540 (human)0.000004cranial vault morphology measurementskull volume (CMO:0000184)96888572468885725Human
597587744GWAS1644604_Hglomerular filtration rate QTL GWAS1644604 (human)4e-38glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
597031120GWAS1127194_Hglomerular filtration rate QTL GWAS1127194 (human)5e-33glomerular filtration rateglomerular filtration rate (CMO:0000490)96881829668818297Human
597031379GWAS1127453_Hglomerular filtration rate QTL GWAS1127453 (human)3e-56glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
406947976GWAS596952_Hnon-alcoholic fatty liver disease QTL GWAS596952 (human)0.0000003non-alcoholic fatty liver disease96872988668729910Human
597509204GWAS1605278_Hcreatinine measurement QTL GWAS1605278 (human)5e-13creatinine measurementblood creatinine measurement (CMO:0000767)96884326068843261Human
597279443GWAS1375517_Hcalcium measurement QTL GWAS1375517 (human)1e-21calcium measurementblood calcium level (CMO:0000502)96885221968852220Human
597031902GWAS1127976_Hglomerular filtration rate QTL GWAS1127976 (human)2e-13glomerular filtration rateglomerular filtration rate (CMO:0000490)96881829668818297Human
597252436GWAS1348510_Hcalcium measurement QTL GWAS1348510 (human)3e-19calcium measurementblood calcium level (CMO:0000502)96871732468717325Human
597031748GWAS1127822_Hglomerular filtration rate QTL GWAS1127822 (human)6e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)96881829668818297Human
597131332GWAS1227406_Hsystolic blood pressure QTL GWAS1227406 (human)0.0000002systolic blood pressuresystolic blood pressure (CMO:0000004)96890311168903112Human
597132739GWAS1228813_Hglomerular filtration rate QTL GWAS1228813 (human)4e-38glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597222336GWAS1318410_Hcreatinine measurement QTL GWAS1318410 (human)1e-32creatinine measurementblood creatinine measurement (CMO:0000767)96882443368824434Human
597585404GWAS1642264_Hcreatinine measurement QTL GWAS1642264 (human)3e-29creatinine measurementblood creatinine measurement (CMO:0000767)96881725868817259Human
597221882GWAS1317956_Hglomerular filtration rate QTL GWAS1317956 (human)5e-32glomerular filtration rateglomerular filtration rate (CMO:0000490)96882443368824434Human
597247483GWAS1343557_Hfasting blood glucose measurement QTL GWAS1343557 (human)0.0000009fasting blood glucose measurementblood glucose level (CMO:0000046)96896689168966892Human
596959735GWAS1079254_Hglomerular filtration rate QTL GWAS1079254 (human)2e-78glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597412088GWAS1508162_Hcancer QTL GWAS1508162 (human)0.0000005cancer96885888768858888Human
597313020GWAS1409094_Huric acid measurement QTL GWAS1409094 (human)2e-09uric acid measurementblood uric acid level (CMO:0000501)96881725868817259Human
597197681GWAS1293755_Hglomerular filtration rate QTL GWAS1293755 (human)4e-71glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
407024299GWAS673275_Hpit and fissure surface dental caries QTL GWAS673275 (human)0.0000002pit and fissure surface dental caries96885699668856997Human
597302902GWAS1398976_Hglomerular filtration rate QTL GWAS1398976 (human)8e-96glomerular filtration rateglomerular filtration rate (CMO:0000490)96881979168819792Human
597093243GWAS1189317_Hcreatinine measurement, glomerular filtration rate QTL GWAS1189317 (human)4e-15creatinine measurement, glomerular filtration rateglomerular filtration rate (CMO:0000490)96881979168819792Human
406978732GWAS627708_Hintelligence QTL GWAS627708 (human)0.000003intelligence96876076468760765Human
597183081GWAS1279155_Haspartic acid measurement QTL GWAS1279155 (human)6e-09blood L-aspartic acid amount (VT:0010969)96876305068763051Human
597058151GWAS1154225_Hintelligence QTL GWAS1154225 (human)0.000001intelligence96889320668893207Human
597427950GWAS1524024_Hurate measurement QTL GWAS1524024 (human)8e-11urate measurementblood uric acid level (CMO:0000501)96885065268850653Human
597129189GWAS1225263_Hpulse pressure measurement QTL GWAS1225263 (human)0.000004pulse pressure measurementpulse pressure (CMO:0000292)96890311168903112Human
597309294GWAS1405368_Hblood urea nitrogen measurement QTL GWAS1405368 (human)1e-11blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)96881954968819550Human
597317358GWAS1413432_Hglomerular filtration rate QTL GWAS1413432 (human)1e-29glomerular filtration rateglomerular filtration rate (CMO:0000490)96881979168819792Human
597098466GWAS1194540_Hprotein measurement QTL GWAS1194540 (human)1e-08protein measurement96887180368871804Human
597222381GWAS1318455_Hglomerular filtration rate QTL GWAS1318455 (human)1e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)96876535168765352Human
597586536GWAS1643396_Hcreatinine measurement QTL GWAS1643396 (human)3e-43creatinine measurementblood creatinine measurement (CMO:0000767)96881725868817259Human
597587815GWAS1644675_Hglomerular filtration rate QTL GWAS1644675 (human)1e-40glomerular filtration rateglomerular filtration rate (CMO:0000490)96881725868817259Human
597033711GWAS1129785_Hsystolic blood pressure QTL GWAS1129785 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)96890311168903112Human
597602148GWAS1659008_Hcalcium measurement QTL GWAS1659008 (human)5e-12calcium measurementblood calcium level (CMO:0000502)96871707468717075Human
597032174GWAS1128248_Hglomerular filtration rate QTL GWAS1128248 (human)1e-26glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597600226GWAS1657086_Hblood bicarbonate measurement QTL GWAS1657086 (human)5e-14blood bicarbonate measurement96881979168819792Human
597427169GWAS1523243_Hgout QTL GWAS1523243 (human)9e-10gout96879572968795730Human
597317860GWAS1413934_Hglomerular filtration rate QTL GWAS1413934 (human)1e-79glomerular filtration rateglomerular filtration rate (CMO:0000490)96881954968819550Human
597112809GWAS1208883_Hglomerular filtration rate QTL GWAS1208883 (human)1e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)96881979168819792Human
597197287GWAS1293361_Hcreatinine measurement QTL GWAS1293361 (human)3e-18creatinine measurementblood creatinine measurement (CMO:0000767)96881979168819792Human

Markers in Region
D9S1787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,495,379 - 71,495,668UniSTSGRCh37
Build 36970,685,199 - 70,685,488RGDNCBI36
Celera942,090,581 - 42,090,866RGD
Cytogenetic Map9q13UniSTS
HuRef941,340,748 - 41,341,033UniSTS
Marshfield Genetic Map964.72UniSTS
Marshfield Genetic Map964.72RGD
Genethon Genetic Map963.4UniSTS
TNG Radiation Hybrid Map922655.0UniSTS
deCODE Assembly Map965.45UniSTS
GeneMap99-GB4 RH Map9233.1UniSTS
NCBI RH Map9653.8UniSTS
D9S1879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,462,303 - 71,462,446UniSTSGRCh37
Build 36970,652,123 - 70,652,266RGDNCBI36
Celera942,057,500 - 42,057,643RGD
Cytogenetic Map9q13UniSTS
HuRef941,307,662 - 41,307,811UniSTS
Marshfield Genetic Map964.72UniSTS
Marshfield Genetic Map964.72RGD
Genethon Genetic Map963.4UniSTS
deCODE Assembly Map965.58UniSTS
A009P17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,396,877 - 71,397,142UniSTSGRCh37
Build 36970,586,697 - 70,586,962RGDNCBI36
Celera941,992,064 - 41,992,329RGD
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,242,448 - 41,242,713UniSTS
GeneMap99-GB4 RH Map9233.1UniSTS
NCBI RH Map9653.8UniSTS
SHGC-82248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,563,978 - 71,564,264UniSTSGRCh37
Build 36970,753,798 - 70,754,084RGDNCBI36
Celera942,159,204 - 42,159,490RGD
Cytogenetic Map9q13UniSTS
HuRef941,409,370 - 41,409,656UniSTS
TNG Radiation Hybrid Map922684.0UniSTS
G60071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,397,563 - 71,397,887UniSTSGRCh37
Build 36970,587,383 - 70,587,707RGDNCBI36
Celera941,992,750 - 41,993,074RGD
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,243,134 - 41,243,458UniSTS
TNG Radiation Hybrid Map922584.0UniSTS
G62557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,380,777 - 71,381,058UniSTSGRCh37
Build 36970,570,597 - 70,570,878RGDNCBI36
Celera941,975,967 - 41,976,248RGD
Cytogenetic Map9q13UniSTS
HuRef941,226,351 - 41,226,632UniSTS
TNG Radiation Hybrid Map922572.0UniSTS
D9S889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,462,276 - 71,462,417UniSTSGRCh37
Build 36970,652,096 - 70,652,237RGDNCBI36
Celera942,057,473 - 42,057,614RGD
Cytogenetic Map9q13UniSTS
HuRef941,307,635 - 41,307,782UniSTS
D9S887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,492,899 - 71,493,057UniSTSGRCh37
Build 36970,682,719 - 70,682,877RGDNCBI36
Celera942,088,101 - 42,088,259RGD
Cytogenetic Map9q13UniSTS
HuRef941,338,268 - 41,338,426UniSTS
D9S888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,495,413 - 71,495,591UniSTSGRCh37
Build 36970,685,233 - 70,685,411RGDNCBI36
Celera942,090,615 - 42,090,789RGD
Cytogenetic Map9q13UniSTS
HuRef941,340,782 - 41,340,956UniSTS
SHGC-107181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,380,401 - 71,380,742UniSTSGRCh37
Build 36970,570,221 - 70,570,562RGDNCBI36
Celera941,975,591 - 41,975,932RGD
Cytogenetic Map9q13UniSTS
HuRef941,225,975 - 41,226,316UniSTS
TNG Radiation Hybrid Map922578.0UniSTS
SHGC-142776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,562,800 - 71,563,076UniSTSGRCh37
Build 36970,752,620 - 70,752,896RGDNCBI36
Celera942,158,026 - 42,158,302RGD
Cytogenetic Map9q13UniSTS
HuRef941,408,189 - 41,408,465UniSTS
TNG Radiation Hybrid Map922684.0UniSTS
SHGC-146607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,613,318 - 71,613,515UniSTSGRCh37
Build 36970,803,138 - 70,803,335RGDNCBI36
Celera942,208,525 - 42,208,722RGD
Cytogenetic Map9q13UniSTS
HuRef941,458,738 - 41,458,935UniSTS
TNG Radiation Hybrid Map922705.0UniSTS
SHGC-147203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,514,398 - 71,514,668UniSTSGRCh37
Build 36970,704,218 - 70,704,488RGDNCBI36
Celera942,109,592 - 42,109,862RGD
Cytogenetic Map9q13UniSTS
HuRef941,359,759 - 41,360,029UniSTS
TNG Radiation Hybrid Map922665.0UniSTS
WIAF-1634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,397,707 - 71,397,821UniSTSGRCh37
Build 36970,587,527 - 70,587,641RGDNCBI36
Celera941,992,894 - 41,993,008RGD
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,243,278 - 41,243,392UniSTS
GeneMap99-GB4 RH Map9237.09UniSTS
NCBI RH Map9653.8UniSTS
SHGC-154986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,618,955 - 71,619,229UniSTSGRCh37
Build 36970,808,775 - 70,809,049RGDNCBI36
Celera942,214,165 - 42,214,439RGD
Cytogenetic Map9q13UniSTS
HuRef941,464,378 - 41,464,652UniSTS
TNG Radiation Hybrid Map922713.0UniSTS
D9S2103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,619,074 - 71,619,325UniSTSGRCh37
Build 36970,808,894 - 70,809,145RGDNCBI36
Celera942,214,284 - 42,214,535RGD
HuRef941,464,497 - 41,464,752UniSTS
STS-U78579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,623,388 - 71,623,602UniSTSGRCh37
Build 36970,813,208 - 70,813,422RGDNCBI36
Celera942,218,600 - 42,218,814RGD
Cytogenetic Map9q13UniSTS
HuRef941,468,818 - 41,469,032UniSTS
GeneMap99-GB4 RH Map9226.15UniSTS
G20821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,399,077 - 71,399,206UniSTSGRCh37
Build 36970,588,897 - 70,589,026RGDNCBI36
Celera941,994,264 - 41,994,393RGD
Cytogenetic Map9q13UniSTS
HuRef941,244,644 - 41,244,773UniSTS
A006H39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,399,077 - 71,399,206UniSTSGRCh37
Build 36970,588,897 - 70,589,026RGDNCBI36
Celera941,994,264 - 41,994,393RGD
Cytogenetic Map9q13UniSTS
HuRef941,244,644 - 41,244,773UniSTS
GeneMap99-GB4 RH Map9233.1UniSTS
NCBI RH Map9653.8UniSTS
G32732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,396,877 - 71,397,142UniSTSGRCh37
Celera941,992,064 - 41,992,329UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,242,448 - 41,242,713UniSTS


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
visual system
1204 2431 2788 2247 4882 1694 2268 5 597 1933 439 2234 7227 6441 39 3668 827 1711 1561 169 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH006674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK299479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265382   ⟹   ENSP00000265382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,705,240 - 69,009,176 (+)Ensembl
Ensembl Acc Id: ENST00000377284   ⟹   ENSP00000366498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,739,834 - 68,876,787 (+)Ensembl
Ensembl Acc Id: ENST00000437200   ⟹   ENSP00000398587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,741,584 - 68,894,354 (+)Ensembl
Ensembl Acc Id: ENST00000440050   ⟹   ENSP00000411477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,742,255 - 68,889,133 (+)Ensembl
Ensembl Acc Id: ENST00000472907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,705,985 - 68,786,160 (+)Ensembl
Ensembl Acc Id: ENST00000474356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,705,986 - 68,708,141 (+)Ensembl
Ensembl Acc Id: ENST00000478500   ⟹   ENSP00000435778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,742,255 - 69,009,176 (+)Ensembl
Ensembl Acc Id: ENST00000541509   ⟹   ENSP00000438082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,705,414 - 69,009,174 (+)Ensembl
RefSeq Acc Id: NM_001278253   ⟹   NP_001265182
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,240 - 69,009,176 (+)NCBI
GRCh37971,320,188 - 71,624,092 (+)NCBI
HuRef941,165,900 - 41,469,522 (+)NCBI
CHM1_1971,467,791 - 71,771,284 (+)NCBI
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376036   ⟹   NP_001362965
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,980 - 69,009,176 (+)NCBI
T2T-CHM13v2.0980,879,498 - 81,182,716 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376037   ⟹   NP_001362966
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,240 - 69,009,176 (+)NCBI
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376039   ⟹   NP_001362968
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,980 - 69,009,176 (+)NCBI
T2T-CHM13v2.0980,879,498 - 81,182,716 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376040   ⟹   NP_001362969
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,240 - 69,009,176 (+)NCBI
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376041   ⟹   NP_001362970
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,980 - 69,009,176 (+)NCBI
T2T-CHM13v2.0980,879,498 - 81,182,716 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003558   ⟹   NP_003549
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,240 - 69,009,176 (+)NCBI
GRCh37971,320,188 - 71,624,092 (+)NCBI
Build 36970,510,436 - 70,813,911 (+)NCBI Archive
HuRef941,165,900 - 41,469,522 (+)NCBI
CHM1_1971,467,791 - 71,771,284 (+)NCBI
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252262   ⟹   XP_005252319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,742,265 - 69,009,176 (+)NCBI
GRCh37971,320,188 - 71,624,092 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519082   ⟹   XP_011517384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,735,346 - 69,009,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519084   ⟹   XP_011517386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,742,265 - 69,009,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015188   ⟹   XP_016870677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,980 - 69,009,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015189   ⟹   XP_016870678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,240 - 69,009,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423951   ⟹   XP_047279907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,240 - 69,009,176 (+)NCBI
RefSeq Acc Id: XM_047423952   ⟹   XP_047279908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,240 - 69,009,176 (+)NCBI
RefSeq Acc Id: XM_054363945   ⟹   XP_054219920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0980,908,841 - 81,182,716 (+)NCBI
RefSeq Acc Id: XM_054363946   ⟹   XP_054219921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBI
RefSeq Acc Id: XM_054363947   ⟹   XP_054219922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBI
RefSeq Acc Id: XM_054363948   ⟹   XP_054219923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0980,915,731 - 81,182,716 (+)NCBI
RefSeq Acc Id: XM_054363949   ⟹   XP_054219924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0980,879,442 - 81,182,716 (+)NCBI
RefSeq Acc Id: XM_054363950   ⟹   XP_054219925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0980,915,731 - 81,182,716 (+)NCBI
RefSeq Acc Id: XM_054363951   ⟹   XP_054219926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0980,878,758 - 81,182,716 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001265182 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362965 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362966 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362968 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362969 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362970 (Get FASTA)   NCBI Sequence Viewer  
  NP_003549 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252319 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517384 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517386 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870677 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870678 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279907 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279908 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219923 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219924 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219925 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219926 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50914 (Get FASTA)   NCBI Sequence Viewer  
  AAC50915 (Get FASTA)   NCBI Sequence Viewer  
  AAC50916 (Get FASTA)   NCBI Sequence Viewer  
  AAH30587 (Get FASTA)   NCBI Sequence Viewer  
  BAF85423 (Get FASTA)   NCBI Sequence Viewer  
  BAG58479 (Get FASTA)   NCBI Sequence Viewer  
  EAW62465 (Get FASTA)   NCBI Sequence Viewer  
  EAW62466 (Get FASTA)   NCBI Sequence Viewer  
  EAW62467 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265382
  ENSP00000265382.2
  ENSP00000366498.1
  ENSP00000398587.1
  ENSP00000411477.1
  ENSP00000435778
  ENSP00000435778.1
  ENSP00000438082
  ENSP00000438082.1
GenBank Protein O14986 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003549   ⟸   NM_003558
- Peptide Label: isoform 2
- UniProtKB: O14986 (UniProtKB/Swiss-Prot),   Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265182   ⟸   NM_001278253
- Peptide Label: isoform 3
- UniProtKB: O14986 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252319   ⟸   XM_005252262
- Peptide Label: isoform X1
- UniProtKB: O14986 (UniProtKB/Swiss-Prot),   Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011517384   ⟸   XM_011519082
- Peptide Label: isoform X1
- UniProtKB: O14986 (UniProtKB/Swiss-Prot),   Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011517386   ⟸   XM_011519084
- Peptide Label: isoform X1
- UniProtKB: O14986 (UniProtKB/Swiss-Prot),   Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870677   ⟸   XM_017015188
- Peptide Label: isoform X1
- UniProtKB: O14986 (UniProtKB/Swiss-Prot),   Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870678   ⟸   XM_017015189
- Peptide Label: isoform X1
- UniProtKB: O14986 (UniProtKB/Swiss-Prot),   Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001362969   ⟸   NM_001376040
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001362966   ⟸   NM_001376037
- Peptide Label: isoform 2
- UniProtKB: Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   O14986 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001362965   ⟸   NM_001376036
- Peptide Label: isoform 2
- UniProtKB: Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   O14986 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001362970   ⟸   NM_001376041
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001362968   ⟸   NM_001376039
- Peptide Label: isoform 2
- UniProtKB: Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   O14986 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000438082   ⟸   ENST00000541509
Ensembl Acc Id: ENSP00000435778   ⟸   ENST00000478500
Ensembl Acc Id: ENSP00000411477   ⟸   ENST00000440050
Ensembl Acc Id: ENSP00000366498   ⟸   ENST00000377284
Ensembl Acc Id: ENSP00000265382   ⟸   ENST00000265382
Ensembl Acc Id: ENSP00000398587   ⟸   ENST00000437200
RefSeq Acc Id: XP_047279907   ⟸   XM_047423951
- Peptide Label: isoform X1
- UniProtKB: Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   O14986 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279908   ⟸   XM_047423952
- Peptide Label: isoform X1
- UniProtKB: Q8NHQ5 (UniProtKB/Swiss-Prot),   Q7KYT5 (UniProtKB/Swiss-Prot),   Q5VZ00 (UniProtKB/Swiss-Prot),   Q5T5K9 (UniProtKB/Swiss-Prot),   Q5T5K8 (UniProtKB/Swiss-Prot),   Q5T5K6 (UniProtKB/Swiss-Prot),   P78519 (UniProtKB/Swiss-Prot),   P78518 (UniProtKB/Swiss-Prot),   O14986 (UniProtKB/Swiss-Prot),   B4DIG7 (UniProtKB/Swiss-Prot),   A8K9L9 (UniProtKB/Swiss-Prot),   Q92749 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219926   ⟸   XM_054363951
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219921   ⟸   XM_054363946
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219922   ⟸   XM_054363947
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219924   ⟸   XM_054363949
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219920   ⟸   XM_054363945
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219925   ⟸   XM_054363950
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219923   ⟸   XM_054363948
- Peptide Label: isoform X1
Protein Domains
PIPK

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14986-F1-model_v2 AlphaFold O14986 1-540 view protein structure

Promoters
RGD ID:7215177
Promoter ID:EPDNEW_H13334
Type:initiation region
Name:PIP5K1B_2
Description:phosphatidylinositol-4-phosphate 5-kinase type 1 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13335  EPDNEW_H13336  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,705,707 - 68,705,767EPDNEW
RGD ID:7215179
Promoter ID:EPDNEW_H13335
Type:multiple initiation site
Name:PIP5K1B_3
Description:phosphatidylinositol-4-phosphate 5-kinase type 1 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13334  EPDNEW_H13336  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,751,918 - 68,751,978EPDNEW
RGD ID:7215181
Promoter ID:EPDNEW_H13336
Type:initiation region
Name:PIP5K1B_1
Description:phosphatidylinositol-4-phosphate 5-kinase type 1 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13334  EPDNEW_H13335  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,780,065 - 68,780,125EPDNEW
RGD ID:6807968
Promoter ID:HG_KWN:63577
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000377290,   NM_003558,   OTTHUMT00000052566,   OTTHUMT00000052567
Position:
Human AssemblyChrPosition (strand)Source
Build 36970,509,961 - 70,510,512 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8995 AgrOrtholog
COSMIC PIP5K1B COSMIC
Ensembl Genes ENSG00000107242 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265382 ENTREZGENE
  ENST00000265382.8 UniProtKB/Swiss-Prot
  ENST00000377284.5 UniProtKB/TrEMBL
  ENST00000437200.5 UniProtKB/TrEMBL
  ENST00000440050.5 UniProtKB/TrEMBL
  ENST00000478500 ENTREZGENE
  ENST00000478500.3 UniProtKB/Swiss-Prot
  ENST00000541509 ENTREZGENE
  ENST00000541509.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2-Layer Sandwich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.800.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107242 GTEx
HGNC ID HGNC:8995 ENTREZGENE
Human Proteome Map PIP5K1B Human Proteome Map
InterPro PInositol-4-P-4/5-kinase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8395 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8395 ENTREZGENE
OMIM 602745 OMIM
PANTHER PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE TYPE-1 BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23086 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PIP5K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33328 PharmGKB
PROSITE PIPK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PIPKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SAICAR synthase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRU3_HUMAN UniProtKB/TrEMBL
  A0A0A0MSP5_HUMAN UniProtKB/TrEMBL
  A0A0A0MT25_HUMAN UniProtKB/TrEMBL
  A8K9L9 ENTREZGENE
  B4DIG7 ENTREZGENE
  O14986 ENTREZGENE
  P78518 ENTREZGENE
  P78519 ENTREZGENE
  PI51B_HUMAN UniProtKB/Swiss-Prot
  Q5T5K6 ENTREZGENE
  Q5T5K8 ENTREZGENE
  Q5T5K9 ENTREZGENE
  Q5VZ00 ENTREZGENE
  Q7KYT5 ENTREZGENE
  Q7KYT6_HUMAN UniProtKB/TrEMBL
  Q8NHQ5 ENTREZGENE
  Q92749 ENTREZGENE
UniProt Secondary A8K9L9 UniProtKB/Swiss-Prot
  B4DIG7 UniProtKB/Swiss-Prot
  P78518 UniProtKB/Swiss-Prot
  P78519 UniProtKB/Swiss-Prot
  Q5T5K6 UniProtKB/Swiss-Prot
  Q5T5K8 UniProtKB/Swiss-Prot
  Q5T5K9 UniProtKB/Swiss-Prot
  Q5VZ00 UniProtKB/Swiss-Prot
  Q7KYT5 UniProtKB/Swiss-Prot
  Q8NHQ5 UniProtKB/Swiss-Prot
  Q92749 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-19 PIP5K1B  phosphatidylinositol-4-phosphate 5-kinase type 1 beta    phosphatidylinositol-4-phosphate 5-kinase, type I, beta  Symbol and/or name change 5135510 APPROVED