PEBP4 (phosphatidylethanolamine binding protein 4) - Rat Genome Database

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Gene: PEBP4 (phosphatidylethanolamine binding protein 4) Homo sapiens
Analyze
Symbol: PEBP4
Name: phosphatidylethanolamine binding protein 4
RGD ID: 1606949
HGNC Page HGNC:28319
Description: Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CORK-1; CORK1; cousin-of-RKIP 1 protein; epididymis secretory protein Li 300; GWTM1933; HEL-S-300; hPEBP4; MGC22776; PEBP-4; phosphatidylethanolamine-binding protein 4; PRO4408; protein cousin-of-RKIP 1
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
GRCh38822,713,251 - 22,941,077 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl822,713,251 - 23,000,000 (-)EnsemblGRCh38hg38GRCh38
GRCh37822,570,764 - 22,798,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,626,710 - 22,841,366 (-)NCBINCBI36Build 36hg18NCBI36
Celera821,533,122 - 21,747,804 (-)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef821,113,907 - 21,329,903 (-)NCBIHuRef
CHM1_1822,773,101 - 22,987,671 (-)NCBICHM1_1
T2T-CHM13v2.0822,987,819 - 23,216,048 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10737800   PMID:12477932   PMID:12975309   PMID:15340161   PMID:15489334   PMID:16865237   PMID:18519826   PMID:19197339   PMID:19240061   PMID:20379614   PMID:21873635   PMID:21887552  
PMID:22076923   PMID:22125029   PMID:22589738   PMID:22801881   PMID:22983920   PMID:23451095   PMID:23533145   PMID:23818363   PMID:24159190   PMID:24276246   PMID:24839885   PMID:25038915  
PMID:25721211   PMID:26311050   PMID:26725095   PMID:27033522   PMID:27261570   PMID:28193908   PMID:29955039   PMID:30021884   PMID:30255656   PMID:30367510   PMID:31402200   PMID:33752499  
PMID:35158167  


Genomics

Comparative Map Data
PEBP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38822,713,251 - 22,941,077 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl822,713,251 - 23,000,000 (-)EnsemblGRCh38hg38GRCh38
GRCh37822,570,764 - 22,798,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,626,710 - 22,841,366 (-)NCBINCBI36Build 36hg18NCBI36
Celera821,533,122 - 21,747,804 (-)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef821,113,907 - 21,329,903 (-)NCBIHuRef
CHM1_1822,773,101 - 22,987,671 (-)NCBICHM1_1
T2T-CHM13v2.0822,987,819 - 23,216,048 (-)NCBIT2T-CHM13v2.0
Pebp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391470,077,856 - 70,297,367 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1470,077,869 - 70,297,367 (+)EnsemblGRCm39 Ensembl
GRCm381469,840,407 - 70,059,918 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1469,840,420 - 70,059,918 (+)EnsemblGRCm38mm10GRCm38
MGSCv371470,240,227 - 70,459,693 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361468,575,487 - 68,794,959 (+)NCBIMGSCv36mm8
Celera1467,378,541 - 67,600,399 (+)NCBICelera
Cytogenetic Map14D2NCBI
cM Map1436.1NCBI
Pebp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81551,328,127 - 51,543,920 (+)NCBIGRCr8
mRatBN7.21544,920,946 - 45,134,188 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1544,921,886 - 45,134,191 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01551,644,948 - 51,740,626 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.01551,528,587 - 51,615,204 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1551,528,514 - 51,740,281 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_5.01555,252,902 - 55,466,149 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41550,225,405 - 50,460,627 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1544,602,584 - 44,814,601 (+)NCBICelera
Cytogenetic Map15p11NCBI
Pebp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540346,125,150 - 46,333,200 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540346,126,263 - 46,317,830 (-)NCBIChiLan1.0ChiLan1.0
PEBP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2741,218,356 - 41,505,203 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1816,945,744 - 17,232,411 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0821,963,297 - 22,250,024 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1818,902,616 - 19,117,229 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl818,902,734 - 19,117,025 (-)Ensemblpanpan1.1panPan2
PEBP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12534,329,160 - 34,574,086 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2534,317,421 - 34,574,066 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2534,917,144 - 35,164,286 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02534,536,708 - 34,784,007 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2534,535,120 - 34,784,085 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12534,483,438 - 34,730,274 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02534,337,758 - 34,584,606 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02534,492,754 - 34,740,068 (+)NCBIUU_Cfam_GSD_1.0
Pebp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494311,922,656 - 12,137,275 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365556,433,237 - 6,620,072 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365556,433,243 - 6,648,014 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PEBP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl146,966,862 - 7,173,347 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1146,966,861 - 7,173,255 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2147,446,928 - 7,543,617 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2147,691,260 - 7,698,221 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PEBP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1820,792,718 - 21,066,746 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl820,792,707 - 21,004,134 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605221,223,048 - 21,434,545 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pebp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475818,203,239 - 18,394,891 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PEBP4
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
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 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 copy number gain See cases [RCV000053636] Chr8:21654619..23001935 [GRCh38]
Chr8:21512131..22859448 [GRCh37]
Chr8:21556411..22915393 [NCBI36]
Chr8:8p21.3
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
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236] Chr8:21482945..22853239 [GRCh38]
Chr8:21340456..22710752 [GRCh37]
Chr8:21384736..22766697 [NCBI36]
Chr8:8p21.3
pathogenic
NM_144962.2(PEBP4):c.393G>A (p.Gln131=) single nucleotide variant Malignant melanoma [RCV000061777] Chr8:22727185 [GRCh38]
Chr8:22584698 [GRCh37]
Chr8:22640643 [NCBI36]
Chr8:8p21.3
not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
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 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
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 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 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 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
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
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
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 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
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 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p21.3(chr8:22492051-23039856)x3 copy number gain See cases [RCV000512002] Chr8:22492051..23039856 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3 copy number gain See cases [RCV000510870] Chr8:22381361..23226751 [GRCh37]
Chr8:8p21.3
likely benign
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
NM_144962.3(PEBP4):c.115G>A (p.Asp39Asn) single nucleotide variant Inborn genetic diseases [RCV003252298] Chr8:22927600 [GRCh38]
Chr8:22785113 [GRCh37]
Chr8:8p21.3
uncertain significance
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 8p21.3(chr8:22539315-22932915)x3 copy number gain not provided [RCV000682976] Chr8:22539315..22932915 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
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 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 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3 copy number gain not provided [RCV000847279] Chr8:20564910..22629124 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
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
NM_144962.3(PEBP4):c.26C>T (p.Thr9Ile) single nucleotide variant Inborn genetic diseases [RCV003290913] Chr8:22927689 [GRCh38]
Chr8:22785202 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.307G>A (p.Ala103Thr) single nucleotide variant Inborn genetic diseases [RCV003273151] Chr8:22817687 [GRCh38]
Chr8:22675200 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NC_000008.10:g.(?_21900440)_(23564111_?)dup duplication Conotruncal heart malformations [RCV003107885]|not provided [RCV001928022] Chr8:21900440..23564111 [GRCh37]
Chr8:8p21.3-21.2
uncertain significance|no classifications from unflagged records
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
NM_144962.3(PEBP4):c.457T>C (p.Phe153Leu) single nucleotide variant Inborn genetic diseases [RCV002754660] Chr8:22724903 [GRCh38]
Chr8:22582416 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.232A>G (p.Ile78Val) single nucleotide variant Inborn genetic diseases [RCV002727907] Chr8:22920210 [GRCh38]
Chr8:22777723 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.244C>T (p.Pro82Ser) single nucleotide variant Inborn genetic diseases [RCV002729147] Chr8:22920198 [GRCh38]
Chr8:22777711 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.412G>C (p.Ala138Pro) single nucleotide variant Inborn genetic diseases [RCV002978298] Chr8:22724948 [GRCh38]
Chr8:22582461 [GRCh37]
Chr8:8p21.3
likely benign
NM_144962.3(PEBP4):c.515G>A (p.Arg172Gln) single nucleotide variant Inborn genetic diseases [RCV002789745] Chr8:22724845 [GRCh38]
Chr8:22582358 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.211A>T (p.Ile71Phe) single nucleotide variant Inborn genetic diseases [RCV002788334] Chr8:22920231 [GRCh38]
Chr8:22777744 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.86C>A (p.Pro29Gln) single nucleotide variant Inborn genetic diseases [RCV003004773] Chr8:22927629 [GRCh38]
Chr8:22785142 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.436G>A (p.Gly146Ser) single nucleotide variant Inborn genetic diseases [RCV002826524] Chr8:22724924 [GRCh38]
Chr8:22582437 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.190T>C (p.Cys64Arg) single nucleotide variant Inborn genetic diseases [RCV002832596] Chr8:22920252 [GRCh38]
Chr8:22777765 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.388G>C (p.Gly130Arg) single nucleotide variant Inborn genetic diseases [RCV002921485] Chr8:22727190 [GRCh38]
Chr8:22584703 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_144962.3(PEBP4):c.191G>C (p.Cys64Ser) single nucleotide variant Inborn genetic diseases [RCV002896288] Chr8:22920251 [GRCh38]
Chr8:22777764 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 copy number loss not provided [RCV003223292] Chr8:21925038..26372195 [GRCh37]
Chr8:8p21.3-21.2
likely pathogenic
NM_144962.3(PEBP4):c.400T>C (p.Ser134Pro) single nucleotide variant Inborn genetic diseases [RCV003287150] Chr8:22727178 [GRCh38]
Chr8:22584691 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2
pathogenic
NM_144962.3(PEBP4):c.70G>A (p.Glu24Lys) single nucleotide variant Inborn genetic diseases [RCV003342347] Chr8:22927645 [GRCh38]
Chr8:22785158 [GRCh37]
Chr8:8p21.3
uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
Single allele duplication not provided [RCV003448690] Chr8:20868762..22701502 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
GRCh37/hg19 8p21.3(chr8:22492103-22913733)x3 copy number gain not provided [RCV003484730] Chr8:22492103..22913733 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1
pathogenic
NM_144962.3(PEBP4):c.529A>G (p.Met177Val) single nucleotide variant Inborn genetic diseases [RCV003344513] Chr8:22713525 [GRCh38]
Chr8:22571038 [GRCh37]
Chr8:8p21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:700
Count of miRNA genes:516
Interacting mature miRNAs:584
Transcripts:ENST00000256404, ENST00000521284, ENST00000522278
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D8S1752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,668,129 - 22,668,280UniSTSGRCh37
Build 36822,724,074 - 22,724,225RGDNCBI36
Celera821,630,517 - 21,630,666RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,211,319 - 21,211,462UniSTS
Marshfield Genetic Map846.26RGD
Marshfield Genetic Map846.26UniSTS
Genethon Genetic Map844.9UniSTS
TNG Radiation Hybrid Map812149.0UniSTS
deCODE Assembly Map840.75UniSTS
SHGC-36225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,615,535 - 22,615,643UniSTSGRCh37
Build 36822,671,480 - 22,671,588RGDNCBI36
Celera821,577,863 - 21,577,971RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,158,654 - 21,158,762UniSTS
Stanford-G3 RH Map81015.0UniSTS
NCBI RH Map8292.8UniSTS
GeneMap99-G3 RH Map81102.0UniSTS
G27363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,570,786 - 22,570,918UniSTSGRCh37
Build 36822,626,731 - 22,626,863RGDNCBI36
Cytogenetic Map8p21.3UniSTS
SHGC-149783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,577,523 - 22,577,793UniSTSGRCh37
Build 36822,633,468 - 22,633,738RGDNCBI36
Celera821,539,860 - 21,540,130RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,120,656 - 21,120,926UniSTS
TNG Radiation Hybrid Map812103.0UniSTS
SHGC-5739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,661,832 - 22,662,091UniSTSGRCh37
Build 36822,717,777 - 22,718,036RGDNCBI36
Celera821,624,220 - 21,624,479RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,205,018 - 21,205,277UniSTS
SHGC-154288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,687,293 - 22,687,564UniSTSGRCh37
Build 36822,743,238 - 22,743,509RGDNCBI36
Celera821,649,679 - 21,649,950RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,230,476 - 21,230,747UniSTS
TNG Radiation Hybrid Map812153.0UniSTS
G32141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,715,429 - 22,715,589UniSTSGRCh37
Build 36822,771,374 - 22,771,534RGDNCBI36
Celera821,677,817 - 21,677,977RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,259,407 - 21,259,567UniSTS
RH48790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,611,144 - 22,611,288UniSTSGRCh37
Build 36822,667,089 - 22,667,233RGDNCBI36
Celera821,573,472 - 21,573,616RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,154,265 - 21,154,409UniSTS
GeneMap99-GB4 RH Map899.58UniSTS
RH124733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,780,111 - 22,781,587UniSTSGRCh37
Celera821,742,493 - 21,743,970UniSTS
HuRef821,324,592 - 21,326,069UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 292 1512 914 26 8 5 1085 1396 832 6 382 1295 22 1 1082
Low 1533 835 398 203 817 77 2748 747 2791 282 789 88 127 1 975 1658 3 2
Below cutoff 473 536 313 296 881 284 430 42 70 99 212 101 21 227 48 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC037441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC055854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX083422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX884144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX969204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY037148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY730275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF853000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM720450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000256404   ⟹   ENSP00000256404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,713,251 - 22,927,914 (-)Ensembl
RefSeq Acc Id: ENST00000521284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,815,073 - 22,941,336 (-)Ensembl
RefSeq Acc Id: ENST00000522278   ⟹   ENSP00000429414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,927,584 - 23,000,000 (-)Ensembl
RefSeq Acc Id: NM_001363233   ⟹   NP_001350162
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,713,251 - 22,941,077 (-)NCBI
T2T-CHM13v2.0822,987,819 - 23,216,048 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144962   ⟹   NP_659399
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,713,251 - 22,927,914 (-)NCBI
GRCh37822,570,765 - 22,785,491 (-)NCBI
Build 36822,626,710 - 22,841,366 (-)NCBI Archive
Celera821,533,122 - 21,747,804 (-)RGD
HuRef821,113,907 - 21,329,903 (-)RGD
CHM1_1822,773,101 - 22,987,671 (-)NCBI
T2T-CHM13v2.0822,987,819 - 23,202,897 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013103   ⟹   XP_016868592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,924,357 - 22,927,914 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054359810   ⟹   XP_054215785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0823,199,340 - 23,202,897 (-)NCBI
RefSeq Acc Id: NP_659399   ⟸   NM_144962
- Peptide Label: precursor
- UniProtKB: Q5EVA1 (UniProtKB/Swiss-Prot),   Q8WW74 (UniProtKB/Swiss-Prot),   Q96S96 (UniProtKB/Swiss-Prot),   V9HW76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868592   ⟸   XM_017013103
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001350162   ⟸   NM_001363233
- Peptide Label: precursor
- UniProtKB: Q96S96 (UniProtKB/Swiss-Prot),   Q5EVA1 (UniProtKB/Swiss-Prot),   Q8WW74 (UniProtKB/Swiss-Prot),   V9HW76 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000256404   ⟸   ENST00000256404
RefSeq Acc Id: ENSP00000429414   ⟸   ENST00000522278
RefSeq Acc Id: XP_054215785   ⟸   XM_054359810
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96S96-F1-model_v2 AlphaFold Q96S96 1-227 view protein structure

Promoters
RGD ID:7212835
Promoter ID:EPDNEW_H12163
Type:initiation region
Name:PEBP4_1
Description:phosphatidylethanolamine binding protein 4
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
GRCh38822,927,914 - 22,927,974EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28319 AgrOrtholog
COSMIC PEBP4 COSMIC
Ensembl Genes ENSG00000134020 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256404 ENTREZGENE
  ENST00000256404.8 UniProtKB/Swiss-Prot
  ENST00000522278.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134020 GTEx
HGNC ID HGNC:28319 ENTREZGENE
Human Proteome Map PEBP4 Human Proteome Map
InterPro PEBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEBP-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEBP_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphatidylethanolamine-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:157310 UniProtKB/Swiss-Prot
NCBI Gene 157310 ENTREZGENE
OMIM 612473 OMIM
PANTHER PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN UniProtKB/TrEMBL
  PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11362 UniProtKB/Swiss-Prot
Pfam PBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165585814 PharmGKB
PROSITE PBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PEBP-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt E5RIK3_HUMAN UniProtKB/TrEMBL
  PEBP4_HUMAN UniProtKB/Swiss-Prot
  Q5EVA1 ENTREZGENE
  Q8WW74 ENTREZGENE
  Q96S96 ENTREZGENE
  V9HW76 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q5EVA1 UniProtKB/Swiss-Prot
  Q8WW74 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PEBP4  phosphatidylethanolamine binding protein 4  PEBP4  phosphatidylethanolamine-binding protein 4  Symbol and/or name change 5135510 APPROVED