GPIHBP1 (glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1) - Rat Genome Database

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Gene: GPIHBP1 (glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1) Homo sapiens
Analyze
Symbol: GPIHBP1
Name: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
RGD ID: 1606107
HGNC Page HGNC
Description: Exhibits chylomicron binding activity and lipase binding activity. Involved in several processes, including positive regulation of lipoprotein lipase activity; protein stabilization; and response to heparin. Localizes to anchored component of external side of plasma membrane. Implicated in familial GPIHBP1 deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: endothelial cell LPL transporter; glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1; GPI anchored high density lipoprotein binding protein 1; GPI-anchored HDL-binding protein 1; GPI-HBP1; high density lipoprotein-binding protein 1; HYPL1D
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,213,218 - 143,217,170 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,213,218 - 143,217,170 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,295,093 - 144,299,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,366,443 - 144,370,418 (+)NCBINCBI36hg18NCBI36
Celera8140,603,655 - 140,607,614 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,547,646 - 139,551,566 (+)NCBIHuRef
CHM1_18144,335,309 - 144,339,286 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:17207965   PMID:17403372   PMID:17620854   PMID:17883852   PMID:17997385   PMID:18713736   PMID:19304573   PMID:19542565   PMID:20026666   PMID:20124439   PMID:20237496  
PMID:20620994   PMID:20966398   PMID:21314738   PMID:21478160   PMID:21518912   PMID:21816778   PMID:21844202   PMID:21873635   PMID:21978733   PMID:22008945   PMID:22078753   PMID:22239554  
PMID:23831619   PMID:24589565   PMID:24614124   PMID:24704550   PMID:24793350   PMID:24847059   PMID:25131724   PMID:25172036   PMID:25387803   PMID:25873395   PMID:25911085   PMID:26725083  
PMID:26892125   PMID:27494936   PMID:27578123   PMID:27875259   PMID:27929370   PMID:27984852   PMID:28476858   PMID:28534127   PMID:28666713   PMID:28694296   PMID:29056530   PMID:29899144  
PMID:30218660   PMID:30408040   PMID:30559189   PMID:30598475   PMID:31072929   PMID:31169500   PMID:31323462   PMID:31645434  


Genomics

Comparative Map Data
GPIHBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,213,218 - 143,217,170 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,213,218 - 143,217,170 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,295,093 - 144,299,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,366,443 - 144,370,418 (+)NCBINCBI36hg18NCBI36
Celera8140,603,655 - 140,607,614 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,547,646 - 139,551,566 (+)NCBIHuRef
CHM1_18144,335,309 - 144,339,286 (+)NCBICHM1_1
Gpihbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,468,479 - 75,470,062 (+)NCBIGRCm39mm39
GRCm39 Ensembl1575,468,477 - 75,471,330 (+)Ensembl
GRCm381575,596,630 - 75,598,213 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,596,628 - 75,599,481 (+)EnsemblGRCm38mm10GRCm38
MGSCv371575,427,088 - 75,428,643 (+)NCBIGRCm37mm9NCBIm37
MGSCv361575,423,913 - 75,425,468 (+)NCBImm8
Celera1577,096,812 - 77,098,367 (+)NCBICelera
Cytogenetic Map15D3NCBI
Gpihbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,285,584 - 107,288,702 (+)NCBI
Rnor_6.0 Ensembl7116,632,506 - 116,634,293 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,632,496 - 116,635,543 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,525,703 - 116,528,750 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,538,424 - 113,541,471 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7103,648,499 - 103,651,546 (+)NCBICelera
Cytogenetic Map7q34NCBI
Gpihbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,970,626 - 1,973,743 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,965,627 - 1,972,479 (+)NCBIChiLan1.0ChiLan1.0
GPIHBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,980,151 - 142,984,629 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,980,151 - 142,985,429 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,960,255 - 139,964,189 (+)NCBIMhudiblu_PPA_v0panPan3
GPIHBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,005,499 - 37,007,214 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,005,512 - 37,007,074 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,958,242 - 36,959,971 (+)NCBI
ROS_Cfam_1.01337,477,245 - 37,478,977 (+)NCBI
UMICH_Zoey_3.11337,149,764 - 37,151,494 (+)NCBI
UNSW_CanFamBas_1.01337,268,265 - 37,270,004 (+)NCBI
UU_Cfam_GSD_1.01337,745,112 - 37,746,841 (+)NCBI
Gpihbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,371,996 - 1,375,593 (-)NCBI
SpeTri2.0NW_0049364708,798,095 - 8,800,176 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPIHBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,254,565 - 1,256,577 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,253,401 - 1,256,921 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,344,593 - 1,347,007 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPIHBP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,433,669 - 137,440,681 (+)NCBI
ChlSab1.1 Ensembl8137,436,997 - 137,440,909 (+)Ensembl
Gpihbp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,486,368 - 13,492,668 (-)NCBI

Position Markers
STS-T63781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,298,901 - 144,299,024UniSTSGRCh37
Build 368144,370,276 - 144,370,399RGDNCBI36
Celera8140,607,471 - 140,607,594RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,551,423 - 139,551,546UniSTS
GeneMap99-GB4 RH Map8549.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1025
Count of miRNA genes:630
Interacting mature miRNAs:713
Transcripts:ENST00000330824
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 966 697 417 25 250 1 2440 1452 1411 46 441 834 25 1196 1534
Low 1254 1448 945 302 240 166 1550 686 2163 97 719 424 135 8 1185 1
Below cutoff 41 740 96 93 810 91 86 10 27 21 27 62 3 66 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000622500   ⟹   ENSP00000480053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,213,218 - 143,217,170 (+)Ensembl
RefSeq Acc Id: NM_001301772   ⟹   NP_001288701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,213,218 - 143,217,170 (+)NCBI
CHM1_18144,335,309 - 144,339,286 (+)NCBI
Sequence:
RefSeq Acc Id: NM_178172   ⟹   NP_835466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,213,218 - 143,217,170 (+)NCBI
GRCh378144,295,068 - 144,299,044 (+)ENTREZGENE
Build 368144,366,443 - 144,370,418 (+)NCBI Archive
HuRef8139,547,646 - 139,551,566 (+)ENTREZGENE
CHM1_18144,335,309 - 144,339,286 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_835466   ⟸   NM_178172
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8IV16 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288701   ⟸   NM_001301772
- Peptide Label: isoform 2 precursor
- UniProtKB: Q8IV16 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000480053   ⟸   ENST00000622500
Protein Domains
UPAR/Ly6

Promoters
RGD ID:7214331
Promoter ID:EPDNEW_H12911
Type:initiation region
Name:GPIHBP1_1
Description:glycosylphosphatidylinositol anchored high density lipoproteinbinding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,213,218 - 143,213,278EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133530] Chr8:143215283 [GRCh38]
Chr8:144297158 [GRCh37]
Chr8:8q24.3
pathogenic
NM_178172.6(GPIHBP1):c.166G>C (p.Gly56Arg) single nucleotide variant not provided [RCV000133521] Chr8:143213935 [GRCh38]
Chr8:144295810 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_178172.6(GPIHBP1):c.202T>G (p.Cys68Gly) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133524] Chr8:143215033 [GRCh38]
Chr8:144296908 [GRCh37]
Chr8:8q24.3
pathogenic
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133525]|not provided [RCV000948350] Chr8:143215486 [GRCh38]
Chr8:144297361 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133527] Chr8:143215294 [GRCh38]
Chr8:144297169 [GRCh37]
Chr8:8q24.3
pathogenic
NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs) deletion Hyperlipoproteinemia, type ID [RCV000133528] Chr8:143215376..143215392 [GRCh38]
Chr8:144297251..144297267 [GRCh37]
Chr8:8q24.3
pathogenic
NM_178172.6(GPIHBP1):c.194G>A (p.Cys65Tyr) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133529] Chr8:143215025 [GRCh38]
Chr8:144296900 [GRCh37]
Chr8:8q24.3
pathogenic
GPIHBP1, DEL deletion Hyperlipoproteinemia, type ID [RCV000133531] Chr8:8q24.3 pathogenic|likely pathogenic
NM_178172.6(GPIHBP1):c.344A>C (p.Gln115Pro) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133522] Chr8:143215307 [GRCh38]
Chr8:144297182 [GRCh37]
Chr8:8q24.3
pathogenic
NM_178172.6(GPIHBP1):c.194G>C (p.Cys65Ser) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133523] Chr8:143215025 [GRCh38]
Chr8:144296900 [GRCh37]
Chr8:8q24.3
pathogenic
NM_178172.6(GPIHBP1):c.266G>T (p.Cys89Phe) single nucleotide variant Hyperlipoproteinemia, type ID [RCV000133526] Chr8:143215097 [GRCh38]
Chr8:144296972 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_178172.6(GPIHBP1):c.295G>A (p.Glu99Lys) single nucleotide variant not provided [RCV000403797] Chr8:143215126 [GRCh38]
Chr8:144297001 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144097119-144359147)x3 copy number gain not provided [RCV000747923] Chr8:144097119..144359147 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144283990-144295183)x4 copy number gain not provided [RCV000747926] Chr8:144283990..144295183 [GRCh37]
Chr8:8q24.3
benign
NM_178172.6(GPIHBP1):c.296-4C>T single nucleotide variant not provided [RCV000915762] Chr8:143215255 [GRCh38]
Chr8:144297130 [GRCh37]
Chr8:8q24.3
benign
NM_178172.6(GPIHBP1):c.295+10C>T single nucleotide variant not provided [RCV000979238] Chr8:143215136 [GRCh38]
Chr8:144297011 [GRCh37]
Chr8:8q24.3
likely benign
NM_178172.6(GPIHBP1):c.41T>G (p.Phe14Cys) single nucleotide variant not provided [RCV000948203] Chr8:143213308 [GRCh38]
Chr8:144295183 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_178172.6(GPIHBP1):c.285C>T (p.His95=) single nucleotide variant not provided [RCV000971287] Chr8:143215116 [GRCh38]
Chr8:144296991 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr) single nucleotide variant Hyperlipoproteinemia, type ID [RCV001175121] Chr8:143215061 [GRCh38]
Chr8:144296936 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter) single nucleotide variant Hyperlipoproteinemia, type ID [RCV001253052] Chr8:143215385 [GRCh38]
Chr8:144297260 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_178172.6(GPIHBP1):c.191G>A (p.Arg64Gln) single nucleotide variant not provided [RCV001256825] Chr8:143215022 [GRCh38]
Chr8:144296897 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144111911-144384136)x3 copy number gain not provided [RCV001259509] Chr8:144111911..144384136 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_178172.6(GPIHBP1):c.258C>G (p.Gly86=) single nucleotide variant not specified [RCV001256681] Chr8:143215089 [GRCh38]
Chr8:144296964 [GRCh37]
Chr8:8q24.3
likely benign
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg) single nucleotide variant Hyperlipoproteinemia, type ID [RCV001333096] Chr8:143215286 [GRCh38]
Chr8:144297161 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24945 AgrOrtholog
COSMIC GPIHBP1 COSMIC
Ensembl Genes ENSG00000277494 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000480053 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000622500 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000277494 GTEx
HGNC ID HGNC:24945 ENTREZGENE
Human Proteome Map GPIHBP1 Human Proteome Map
InterPro LY6_UPA_recep-like UniProtKB/Swiss-Prot
KEGG Report hsa:338328 UniProtKB/Swiss-Prot
NCBI Gene 338328 ENTREZGENE
OMIM 612757 OMIM
  615947 OMIM
Pfam UPAR_LY6 UniProtKB/Swiss-Prot
PharmGKB PA162390135 PharmGKB
UniProt HDBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6P3T2 UniProtKB/Swiss-Prot
  Q86W15 UniProtKB/Swiss-Prot