PCDHB15 (protocadherin beta 15) - Rat Genome Database

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Gene: PCDHB15 (protocadherin beta 15) Homo sapiens
Analyze
Symbol: PCDHB15
Name: protocadherin beta 15
RGD ID: 1321168
HGNC Page HGNC:8686
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in membrane and photoreceptor connecting cilium. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PCDH-beta-15; PCDH-BETA15; protocadherin beta-15
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
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
GRCh385141,245,395 - 141,249,365 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,245,395 - 141,249,365 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,624,963 - 140,628,933 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,605,331 - 140,607,986 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,605,330 - 140,607,983NCBI
Celera5136,701,975 - 136,704,630 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,770,205 - 135,772,860 (+)NCBIHuRef
CHM1_15140,058,351 - 140,061,006 (+)NCBICHM1_1
T2T-CHM13v2.05141,770,701 - 141,774,671 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10380929   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:11322959   PMID:12477932   PMID:15489334   PMID:21873635   PMID:26496610  


Genomics

Comparative Map Data
PCDHB15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,245,395 - 141,249,365 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,245,395 - 141,249,365 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,624,963 - 140,628,933 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,605,331 - 140,607,986 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,605,330 - 140,607,983NCBI
Celera5136,701,975 - 136,704,630 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,770,205 - 135,772,860 (+)NCBIHuRef
CHM1_15140,058,351 - 140,061,006 (+)NCBICHM1_1
T2T-CHM13v2.05141,770,701 - 141,774,671 (+)NCBIT2T-CHM13v2.0
Pcdhb22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,651,402 - 37,657,532 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,650,924 - 37,657,532 (+)EnsemblGRCm39 Ensembl
GRCm381837,518,353 - 37,521,419 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,517,871 - 37,524,479 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,678,007 - 37,681,073 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,644,327 - 37,647,393 (+)NCBIMGSCv36mm8
Celera1838,869,674 - 38,872,740 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.51NCBI
Pcdhb22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,497,038 - 29,503,142 (+)NCBIGRCr8
mRatBN7.21829,223,028 - 29,229,132 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,223,149 - 29,225,536 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01830,590,864 - 30,595,456 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,592,794 - 30,595,181 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,298,048 - 30,302,651 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,327,386 - 30,330,048 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11830,354,031 - 30,356,418 (+)NCBI
Celera1828,918,568 - 28,921,569 (+)NCBICelera
Cytogenetic Map18p11NCBI
LOC100987426
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24136,490,132 - 136,499,118 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15134,629,915 - 134,638,670 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05136,605,233 - 136,611,147 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15142,721,180 - 142,724,785 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5142,721,472 - 142,723,835 (+)Ensemblpanpan1.1panPan2
LOC487178
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,251,313 - 36,271,637 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha233,302,959 - 33,323,542 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,705,659 - 36,716,774 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl236,705,911 - 36,710,593 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1233,779,722 - 33,800,301 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,590,711 - 34,611,298 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0235,398,365 - 35,418,957 (+)NCBIUU_Cfam_GSD_1.0
LOC106504267
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.12142,907,878 - 142,920,582 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PCDHB15
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12343,866,100 - 43,877,344 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2343,866,966 - 43,869,329 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603433,979,915 - 33,988,150 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PCDHB15
60 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_018935.3(PCDHB15):c.447G>A (p.Gly149=) single nucleotide variant Malignant melanoma [RCV000066728] Chr5:141246025 [GRCh38]
Chr5:140625593 [GRCh37]
Chr5:140605777 [NCBI36]
Chr5:5q31.3		 not provided
NM_018935.3(PCDHB15):c.603T>G (p.Asp201Glu) single nucleotide variant Malignant melanoma [RCV000066729] Chr5:141246181 [GRCh38]
Chr5:140625749 [GRCh37]
Chr5:140605933 [NCBI36]
Chr5:5q31.3		 not provided
NM_018935.3(PCDHB15):c.2153G>A (p.Arg718Lys) single nucleotide variant Malignant melanoma [RCV000061160] Chr5:141247731 [GRCh38]
Chr5:140627299 [GRCh37]
Chr5:140607483 [NCBI36]
Chr5:5q31.3		 not provided
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 copy number loss See cases [RCV000136949] Chr5:140963199..142322798 [GRCh38]
Chr5:140453735..141702363 [GRCh37]
Chr5:140322968..141682547 [NCBI36]
Chr5:5q31.3		 uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 copy number gain See cases [RCV000139504] Chr5:141089988..149530678 [GRCh38]
Chr5:140469572..148910241 [GRCh37]
Chr5:140449756..148890434 [NCBI36]
Chr5:5q31.3-32		 pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_018935.4(PCDHB15):c.1846G>C (p.Gly616Arg) single nucleotide variant not specified [RCV004288790] Chr5:141247424 [GRCh38]
Chr5:140626992 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1537C>A (p.Leu513Met) single nucleotide variant not specified [RCV004315651] Chr5:141247115 [GRCh38]
Chr5:140626683 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1411G>C (p.Gly471Arg) single nucleotide variant not specified [RCV004295246] Chr5:141246989 [GRCh38]
Chr5:140626557 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.49C>A (p.Leu17Ile) single nucleotide variant not specified [RCV004303577] Chr5:141245627 [GRCh38]
Chr5:140625195 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_018935.4(PCDHB15):c.688A>C (p.Ile230Leu) single nucleotide variant not specified [RCV004289198] Chr5:141246266 [GRCh38]
Chr5:140625834 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 copy number gain not provided [RCV000848228] Chr5:140424333..148985999 [GRCh37]
Chr5:5q31.3-32		 uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 copy number gain not provided [RCV002474614] Chr5:140082762..140773954 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.233A>T (p.Asp78Val) single nucleotide variant not specified [RCV004119285] Chr5:141245811 [GRCh38]
Chr5:140625379 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1819C>T (p.Leu607Phe) single nucleotide variant not specified [RCV004214201] Chr5:141247397 [GRCh38]
Chr5:140626965 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1217A>T (p.Glu406Val) single nucleotide variant not specified [RCV004139886] Chr5:141246795 [GRCh38]
Chr5:140626363 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1342G>T (p.Ala448Ser) single nucleotide variant not specified [RCV004235923] Chr5:141246920 [GRCh38]
Chr5:140626488 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.341T>C (p.Leu114Ser) single nucleotide variant not specified [RCV004160865] Chr5:141245919 [GRCh38]
Chr5:140625487 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2327G>A (p.Ser776Asn) single nucleotide variant not specified [RCV004191575] Chr5:141247905 [GRCh38]
Chr5:140627473 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1304A>T (p.Gln435Leu) single nucleotide variant not specified [RCV004116690] Chr5:141246882 [GRCh38]
Chr5:140626450 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2293A>C (p.Lys765Gln) single nucleotide variant not specified [RCV004122226] Chr5:141247871 [GRCh38]
Chr5:140627439 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.518C>A (p.Ser173Tyr) single nucleotide variant not specified [RCV004217942] Chr5:141246096 [GRCh38]
Chr5:140625664 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1573C>A (p.Gln525Lys) single nucleotide variant not specified [RCV004139614] Chr5:141247151 [GRCh38]
Chr5:140626719 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1348G>T (p.Ala450Ser) single nucleotide variant not specified [RCV004192870] Chr5:141246926 [GRCh38]
Chr5:140626494 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1651G>T (p.Val551Leu) single nucleotide variant not specified [RCV004126636] Chr5:141247229 [GRCh38]
Chr5:140626797 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2189G>A (p.Gly730Asp) single nucleotide variant not specified [RCV004201275] Chr5:141247767 [GRCh38]
Chr5:140627335 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2159C>A (p.Ala720Asp) single nucleotide variant not specified [RCV004167777] Chr5:141247737 [GRCh38]
Chr5:140627305 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.664C>G (p.Arg222Gly) single nucleotide variant not specified [RCV004178139] Chr5:141246242 [GRCh38]
Chr5:140625810 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1396C>T (p.Pro466Ser) single nucleotide variant not specified [RCV004156126] Chr5:141246974 [GRCh38]
Chr5:140626542 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.214G>A (p.Glu72Lys) single nucleotide variant not specified [RCV004178737] Chr5:141245792 [GRCh38]
Chr5:140625360 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1355C>T (p.Thr452Ile) single nucleotide variant not specified [RCV004099624] Chr5:141246933 [GRCh38]
Chr5:140626501 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2009A>T (p.Tyr670Phe) single nucleotide variant not specified [RCV004241399] Chr5:141247587 [GRCh38]
Chr5:140627155 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1977A>C (p.Gln659His) single nucleotide variant not specified [RCV004075020] Chr5:141247555 [GRCh38]
Chr5:140627123 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018935.4(PCDHB15):c.1687T>G (p.Tyr563Asp) single nucleotide variant not specified [RCV004100170] Chr5:141247265 [GRCh38]
Chr5:140626833 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1634C>T (p.Ala545Val) single nucleotide variant not specified [RCV004158465] Chr5:141247212 [GRCh38]
Chr5:140626780 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1648C>G (p.Leu550Val) single nucleotide variant not specified [RCV004218977] Chr5:141247226 [GRCh38]
Chr5:140626794 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.905G>A (p.Arg302Gln) single nucleotide variant not specified [RCV004301375] Chr5:141246483 [GRCh38]
Chr5:140626051 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1531G>C (p.Gly511Arg) single nucleotide variant not specified [RCV004252885] Chr5:141247109 [GRCh38]
Chr5:140626677 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1118G>C (p.Arg373Pro) single nucleotide variant not specified [RCV004258036] Chr5:141246696 [GRCh38]
Chr5:140626264 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.554G>T (p.Arg185Leu) single nucleotide variant not specified [RCV004257418] Chr5:141246132 [GRCh38]
Chr5:140625700 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.644T>C (p.Val215Ala) single nucleotide variant not specified [RCV004272007] Chr5:141246222 [GRCh38]
Chr5:140625790 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1584G>C (p.Glu528Asp) single nucleotide variant not specified [RCV004258342] Chr5:141247162 [GRCh38]
Chr5:140626730 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1411G>A (p.Gly471Ser) single nucleotide variant not specified [RCV004316144] Chr5:141246989 [GRCh38]
Chr5:140626557 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.50T>A (p.Leu17His) single nucleotide variant not specified [RCV004345542] Chr5:141245628 [GRCh38]
Chr5:140625196 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.200T>C (p.Val67Ala) single nucleotide variant not specified [RCV004353672] Chr5:141245778 [GRCh38]
Chr5:140625346 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1616C>T (p.Pro539Leu) single nucleotide variant not specified [RCV004350769] Chr5:141247194 [GRCh38]
Chr5:140626762 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.268C>G (p.Leu90Val) single nucleotide variant not specified [RCV004352278] Chr5:141245846 [GRCh38]
Chr5:140625414 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.649G>A (p.Gly217Ser) single nucleotide variant not specified [RCV004349349] Chr5:141246227 [GRCh38]
Chr5:140625795 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.98A>G (p.Tyr33Cys) single nucleotide variant not specified [RCV004498038] Chr5:141245676 [GRCh38]
Chr5:140625244 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1305G>C (p.Gln435His) single nucleotide variant not specified [RCV004498022] Chr5:141246883 [GRCh38]
Chr5:140626451 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018935.4(PCDHB15):c.445G>A (p.Gly149Arg) single nucleotide variant not specified [RCV004498031] Chr5:141246023 [GRCh38]
Chr5:140625591 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1935G>C (p.Lys645Asn) single nucleotide variant not specified [RCV004498027] Chr5:141247513 [GRCh38]
Chr5:140627081 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1726G>A (p.Val576Met) single nucleotide variant not specified [RCV004498025] Chr5:141247304 [GRCh38]
Chr5:140626872 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.708T>A (p.Asn236Lys) single nucleotide variant not specified [RCV004498037] Chr5:141246286 [GRCh38]
Chr5:140625854 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.704C>G (p.Ala235Gly) single nucleotide variant not specified [RCV004498036] Chr5:141246282 [GRCh38]
Chr5:140625850 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.469G>A (p.Ala157Thr) single nucleotide variant not specified [RCV004498032] Chr5:141246047 [GRCh38]
Chr5:140625615 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2205T>G (p.His735Gln) single nucleotide variant not specified [RCV004498029] Chr5:141247783 [GRCh38]
Chr5:140627351 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.19C>A (p.Arg7Ser) single nucleotide variant not specified [RCV004498028] Chr5:141245597 [GRCh38]
Chr5:140625165 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1460C>A (p.Thr487Asn) single nucleotide variant not specified [RCV004498024] Chr5:141247038 [GRCh38]
Chr5:140626606 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1307G>A (p.Ser436Asn) single nucleotide variant not specified [RCV004498023] Chr5:141246885 [GRCh38]
Chr5:140626453 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018935.4(PCDHB15):c.236T>C (p.Leu79Pro) single nucleotide variant not specified [RCV004498030] Chr5:141245814 [GRCh38]
Chr5:140625382 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.693G>C (p.Leu231Phe) single nucleotide variant not specified [RCV004498035] Chr5:141246271 [GRCh38]
Chr5:140625839 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.62T>C (p.Leu21Pro) single nucleotide variant not specified [RCV004498034] Chr5:141245640 [GRCh38]
Chr5:140625208 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.536A>G (p.His179Arg) single nucleotide variant not specified [RCV004498033] Chr5:141246114 [GRCh38]
Chr5:140625682 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1759A>T (p.Thr587Ser) single nucleotide variant not specified [RCV004498026] Chr5:141247337 [GRCh38]
Chr5:140626905 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1732C>T (p.Arg578Trp) single nucleotide variant not specified [RCV004664408] Chr5:141247310 [GRCh38]
Chr5:140626878 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1928T>C (p.Leu643Pro) single nucleotide variant not specified [RCV004664409] Chr5:141247506 [GRCh38]
Chr5:140627074 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.443T>C (p.Leu148Pro) single nucleotide variant not specified [RCV004653185] Chr5:141246021 [GRCh38]
Chr5:140625589 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018935.4(PCDHB15):c.172G>A (p.Glu58Lys) single nucleotide variant not specified [RCV004653186] Chr5:141245750 [GRCh38]
Chr5:140625318 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.322G>C (p.Val108Leu) single nucleotide variant not specified [RCV004653187] Chr5:141245900 [GRCh38]
Chr5:140625468 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2116T>C (p.Phe706Leu) single nucleotide variant not specified [RCV004653188] Chr5:141247694 [GRCh38]
Chr5:140627262 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018935.4(PCDHB15):c.1708G>T (p.Ala570Ser) single nucleotide variant not specified [RCV004653189] Chr5:141247286 [GRCh38]
Chr5:140626854 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.2134C>T (p.Arg712Trp) single nucleotide variant not specified [RCV004653190] Chr5:141247712 [GRCh38]
Chr5:140627280 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.269T>G (p.Leu90Arg) single nucleotide variant not specified [RCV004664410] Chr5:141245847 [GRCh38]
Chr5:140625415 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018935.4(PCDHB15):c.1487C>G (p.Pro496Arg) single nucleotide variant not specified [RCV004653191] Chr5:141247065 [GRCh38]
Chr5:140626633 [GRCh37]
Chr5:5q31.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:77
Count of miRNA genes:71
Interacting mature miRNAs:74
Transcripts:ENST00000231173
Prediction methods:Miranda, Rnahybrid
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
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human

Markers in Region
PCDHB15_2562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,627,196 - 140,627,937UniSTSGRCh37
Build 365140,607,380 - 140,608,121RGDNCBI36
Celera5136,704,024 - 136,704,765RGD
HuRef5135,772,254 - 135,772,995UniSTS
RH66181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,627,413 - 140,627,536UniSTSGRCh37
Build 365140,607,597 - 140,607,720RGDNCBI36
Celera5136,704,241 - 136,704,364RGD
Cytogenetic Map5q31UniSTS
HuRef5135,772,471 - 135,772,594UniSTS
GeneMap99-GB4 RH Map5531.62UniSTS
NCBI RH Map5889.1UniSTS
STS-H17959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,627,410 - 140,627,535UniSTSGRCh37
Build 365140,607,594 - 140,607,719RGDNCBI36
Celera5136,704,238 - 136,704,363RGD
Cytogenetic Map5q31UniSTS
HuRef5135,772,468 - 135,772,593UniSTS
GeneMap99-GB4 RH Map5529.2UniSTS
NCBI RH Map5889.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2425 2788 2235 4968 1722 2333 6 622 1307 463 2264 6661 5844 51 3734 1 846 1724 1602 173 1

Sequence


Ensembl Acc Id: ENST00000231173   ⟹   ENSP00000231173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,245,395 - 141,249,365 (+)Ensembl
Ensembl Acc Id: ENST00000623671   ⟹   ENSP00000485504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,245,395 - 141,246,497 (+)Ensembl
RefSeq Acc Id: NM_018935   ⟹   NP_061758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,245,395 - 141,249,365 (+)NCBI
GRCh375140,625,147 - 140,627,802 (+)RGD
Build 365140,605,331 - 140,607,986 (+)NCBI Archive
Celera5136,701,975 - 136,704,630 (+)RGD
HuRef5135,769,975 - 135,772,860 (+)NCBI
CHM1_15140,058,121 - 140,061,006 (+)NCBI
T2T-CHM13v2.05141,770,701 - 141,774,671 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061758   ⟸   NM_018935
- Peptide Label: precursor
- UniProtKB: Q8IUX5 (UniProtKB/Swiss-Prot),   Q9Y5E8 (UniProtKB/Swiss-Prot),   B2R708 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000485504   ⟸   ENST00000623671
Ensembl Acc Id: ENSP00000231173   ⟸   ENST00000231173
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5E8-F1-model_v2 AlphaFold Q9Y5E8 1-787 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8686 AgrOrtholog
COSMIC PCDHB15 COSMIC
Ensembl Genes ENSG00000113248 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000231173 ENTREZGENE
  ENST00000231173.6 UniProtKB/Swiss-Prot
  ENST00000623671.1 UniProtKB/TrEMBL
  ENST00000708387.1 UniProtKB/TrEMBL
  ENST00000708388.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113248 GTEx
  ENSG00000291695 GTEx
HGNC ID HGNC:8686 ENTREZGENE
Human Proteome Map PCDHB15 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protocadherin/Cadherin-CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56121 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56121 ENTREZGENE
OMIM 606341 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24028:SF97 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33031 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A096LPC0_HUMAN UniProtKB/TrEMBL
  B2R708 ENTREZGENE, UniProtKB/TrEMBL
  PCDBF_HUMAN UniProtKB/Swiss-Prot
  Q8IUX5 ENTREZGENE
  Q9Y5E8 ENTREZGENE
UniProt Secondary Q8IUX5 UniProtKB/Swiss-Prot