PCDHB14 (protocadherin beta 14) - Rat Genome Database

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Gene: PCDHB14 (protocadherin beta 14) Homo sapiens
Analyze
Symbol: PCDHB14
Name: protocadherin beta 14
RGD ID: 1322463
HGNC Page HGNC:8685
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in plasma membrane and synapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC120065; PCDH-beta-14; PCDH-BETA14; protocadherin beta-14
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: PCDHB19P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,223,343 - 141,227,759 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,223,343 - 141,227,759 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,602,915 - 140,607,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,583,262 - 140,586,044 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,583,261 - 140,586,042NCBI
Celera5136,679,902 - 136,682,684 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,748,139 - 135,750,921 (+)NCBIHuRef
CHM1_15140,036,278 - 140,039,060 (+)NCBICHM1_1
T2T-CHM13v2.05141,748,654 - 141,753,070 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA,NAS)
plasma membrane  (IEA)
synapse  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9182820   PMID:10380929   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:11322959   PMID:12231349   PMID:12477932   PMID:15489334   PMID:16344560   PMID:21873635  
PMID:25416956   PMID:25566775   PMID:29507755   PMID:29676528   PMID:32296183   PMID:33961781   PMID:35688944  


Genomics

Comparative Map Data
PCDHB14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,223,343 - 141,227,759 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,223,343 - 141,227,759 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,602,915 - 140,607,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,583,262 - 140,586,044 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,583,261 - 140,586,042NCBI
Celera5136,679,902 - 136,682,684 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,748,139 - 135,750,921 (+)NCBIHuRef
CHM1_15140,036,278 - 140,039,060 (+)NCBICHM1_1
T2T-CHM13v2.05141,748,654 - 141,753,070 (+)NCBIT2T-CHM13v2.0
Pcdhb20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,637,332 - 37,640,713 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,637,317 - 37,640,875 (+)EnsemblGRCm39 Ensembl
GRCm381837,504,264 - 37,507,660 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,504,264 - 37,507,822 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,663,918 - 37,667,314 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,630,263 - 37,633,634 (+)NCBIMGSCv36mm8
Celera1838,855,575 - 38,858,970 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.51NCBI
Pcdhb20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,485,888 - 29,489,282 (+)NCBIGRCr8
mRatBN7.21829,211,878 - 29,215,272 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,211,883 - 29,215,258 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1829,339,009 - 29,342,384 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01830,101,010 - 30,104,385 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01829,436,320 - 29,439,695 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01830,581,530 - 30,584,905 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,581,530 - 30,584,905 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,288,725 - 30,292,100 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,316,122 - 30,319,497 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1828,907,680 - 28,911,055 (+)NCBICelera
Cytogenetic Map18p11NCBI
LOC100981837
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24136,468,306 - 136,477,462 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15134,612,321 - 134,617,014 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05136,584,741 - 136,589,504 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15142,698,484 - 142,703,146 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5142,700,427 - 142,712,829 (+)Ensemblpanpan1.1panPan2
LOC487175
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,226,490 - 36,232,201 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl236,229,411 - 36,231,807 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha233,280,369 - 33,284,104 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,683,068 - 36,686,803 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl236,684,013 - 36,686,409 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1233,757,124 - 33,760,859 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,568,123 - 34,571,856 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0235,375,775 - 35,379,510 (+)NCBIUU_Cfam_GSD_1.0
LOC101964548
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213151,327,698 - 151,331,167 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493650412,901,965 - 12,904,619 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCDHB14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603434,005,651 - 34,013,100 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PCDHB14
38 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
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
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
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
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
GRCh37/hg19 5q31.3(chr5:140559849-140606802)x3 copy number gain not provided [RCV000745228] Chr5:140559849..140606802 [GRCh37]
Chr5:5q31.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_018934.4(PCDHB14):c.2348T>C (p.Met783Thr) single nucleotide variant Inborn genetic diseases [RCV003244789] Chr5:141225853 [GRCh38]
Chr5:140605425 [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
NM_018934.4(PCDHB14):c.1591G>A (p.Val531Met) single nucleotide variant Inborn genetic diseases [RCV003240174] Chr5:141225096 [GRCh38]
Chr5:140604668 [GRCh37]
Chr5:5q31.3
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
NM_018934.4(PCDHB14):c.1426A>G (p.Thr476Ala) single nucleotide variant Inborn genetic diseases [RCV003295406] Chr5:141224931 [GRCh38]
Chr5:140604503 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 copy number gain not provided [RCV002474614] Chr5:140082762..140773954 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.293C>G (p.Ser98Cys) single nucleotide variant Inborn genetic diseases [RCV002772143] Chr5:141223798 [GRCh38]
Chr5:140603370 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2174G>T (p.Cys725Phe) single nucleotide variant Inborn genetic diseases [RCV002907235] Chr5:141225679 [GRCh38]
Chr5:140605251 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1526A>G (p.Asp509Gly) single nucleotide variant Inborn genetic diseases [RCV002992802] Chr5:141225031 [GRCh38]
Chr5:140604603 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1745C>T (p.Pro582Leu) single nucleotide variant Inborn genetic diseases [RCV002684127] Chr5:141225250 [GRCh38]
Chr5:140604822 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.293C>A (p.Ser98Tyr) single nucleotide variant Inborn genetic diseases [RCV002688105] Chr5:141223798 [GRCh38]
Chr5:140603370 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1136G>A (p.Gly379Glu) single nucleotide variant Inborn genetic diseases [RCV002688106] Chr5:141224641 [GRCh38]
Chr5:140604213 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1009G>A (p.Val337Ile) single nucleotide variant Inborn genetic diseases [RCV002752558] Chr5:141224514 [GRCh38]
Chr5:140604086 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.151G>C (p.Asp51His) single nucleotide variant Inborn genetic diseases [RCV002817870] Chr5:141223656 [GRCh38]
Chr5:140603228 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1591G>C (p.Val531Leu) single nucleotide variant Inborn genetic diseases [RCV002727836] Chr5:141225096 [GRCh38]
Chr5:140604668 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1528A>T (p.Asn510Tyr) single nucleotide variant Inborn genetic diseases [RCV002888569] Chr5:141225033 [GRCh38]
Chr5:140604605 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2189G>T (p.Gly730Val) single nucleotide variant Inborn genetic diseases [RCV002981317] Chr5:141225694 [GRCh38]
Chr5:140605266 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1529A>G (p.Asn510Ser) single nucleotide variant Inborn genetic diseases [RCV002821942] Chr5:141225034 [GRCh38]
Chr5:140604606 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1979T>C (p.Val660Ala) single nucleotide variant Inborn genetic diseases [RCV002694268] Chr5:141225484 [GRCh38]
Chr5:140605056 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.866G>C (p.Arg289Pro) single nucleotide variant Inborn genetic diseases [RCV002659815] Chr5:141224371 [GRCh38]
Chr5:140603943 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.875T>A (p.Phe292Tyr) single nucleotide variant Inborn genetic diseases [RCV002822738] Chr5:141224380 [GRCh38]
Chr5:140603952 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1477C>T (p.Pro493Ser) single nucleotide variant Inborn genetic diseases [RCV002804922] Chr5:141224982 [GRCh38]
Chr5:140604554 [GRCh37]
Chr5:5q31.3
likely benign
NM_018934.4(PCDHB14):c.896G>A (p.Gly299Glu) single nucleotide variant Inborn genetic diseases [RCV002713401] Chr5:141224401 [GRCh38]
Chr5:140603973 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2162C>T (p.Ser721Leu) single nucleotide variant Inborn genetic diseases [RCV002891781] Chr5:141225667 [GRCh38]
Chr5:140605239 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1730C>T (p.Pro577Leu) single nucleotide variant Inborn genetic diseases [RCV002850844] Chr5:141225235 [GRCh38]
Chr5:140604807 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.790A>G (p.Ile264Val) single nucleotide variant Inborn genetic diseases [RCV002788723] Chr5:141224295 [GRCh38]
Chr5:140603867 [GRCh37]
Chr5:5q31.3
likely benign
NM_018934.4(PCDHB14):c.1787C>T (p.Ser596Leu) single nucleotide variant Inborn genetic diseases [RCV002787621] Chr5:141225292 [GRCh38]
Chr5:140604864 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1708G>A (p.Ala570Thr) single nucleotide variant Inborn genetic diseases [RCV002835573] Chr5:141225213 [GRCh38]
Chr5:140604785 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.101C>T (p.Ser34Phe) single nucleotide variant Inborn genetic diseases [RCV002673810] Chr5:141223606 [GRCh38]
Chr5:140603178 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2278G>A (p.Gly760Arg) single nucleotide variant Inborn genetic diseases [RCV002769055] Chr5:141225783 [GRCh38]
Chr5:140605355 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1439C>T (p.Ser480Leu) single nucleotide variant Inborn genetic diseases [RCV002747882] Chr5:141224944 [GRCh38]
Chr5:140604516 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1780G>A (p.Gly594Ser) single nucleotide variant Inborn genetic diseases [RCV002960437] Chr5:141225285 [GRCh38]
Chr5:140604857 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.163G>A (p.Gly55Arg) single nucleotide variant Inborn genetic diseases [RCV002921206] Chr5:141223668 [GRCh38]
Chr5:140603240 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.392C>T (p.Pro131Leu) single nucleotide variant Inborn genetic diseases [RCV002649165] Chr5:141223897 [GRCh38]
Chr5:140603469 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.98A>G (p.Tyr33Cys) single nucleotide variant Inborn genetic diseases [RCV002896319] Chr5:141223603 [GRCh38]
Chr5:140603175 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1420A>G (p.Ser474Gly) single nucleotide variant Inborn genetic diseases [RCV002677232] Chr5:141224925 [GRCh38]
Chr5:140604497 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1897C>A (p.Arg633Ser) single nucleotide variant Inborn genetic diseases [RCV003211478] Chr5:141225402 [GRCh38]
Chr5:140604974 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1052C>T (p.Ser351Leu) single nucleotide variant Inborn genetic diseases [RCV003212594] Chr5:141224557 [GRCh38]
Chr5:140604129 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.652G>A (p.Gly218Arg) single nucleotide variant Inborn genetic diseases [RCV003209440] Chr5:141224157 [GRCh38]
Chr5:140603729 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2033C>A (p.Pro678Gln) single nucleotide variant Inborn genetic diseases [RCV003214245] Chr5:141225538 [GRCh38]
Chr5:140605110 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2032C>T (p.Pro678Ser) single nucleotide variant Inborn genetic diseases [RCV003258419] Chr5:141225537 [GRCh38]
Chr5:140605109 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1150T>C (p.Ser384Pro) single nucleotide variant Inborn genetic diseases [RCV003359238] Chr5:141224655 [GRCh38]
Chr5:140604227 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1346C>T (p.Pro449Leu) single nucleotide variant Inborn genetic diseases [RCV003358854] Chr5:141224851 [GRCh38]
Chr5:140604423 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2305C>T (p.Pro769Ser) single nucleotide variant Inborn genetic diseases [RCV003359844] Chr5:141225810 [GRCh38]
Chr5:140605382 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.784G>C (p.Ala262Pro) single nucleotide variant Inborn genetic diseases [RCV003386049] Chr5:141224289 [GRCh38]
Chr5:140603861 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.2362A>C (p.Asn788His) single nucleotide variant Inborn genetic diseases [RCV003384493] Chr5:141225867 [GRCh38]
Chr5:140605439 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018934.4(PCDHB14):c.1440A>G (p.Ser480=) single nucleotide variant not provided [RCV003429838] Chr5:141224945 [GRCh38]
Chr5:140604517 [GRCh37]
Chr5:5q31.3
likely benign
NM_018934.4(PCDHB14):c.846C>T (p.Phe282=) single nucleotide variant not provided [RCV003428643] Chr5:141224351 [GRCh38]
Chr5:140603923 [GRCh37]
Chr5:5q31.3
likely benign
NM_018934.4(PCDHB14):c.1992C>T (p.Asp664=) single nucleotide variant not provided [RCV003429839] Chr5:141225497 [GRCh38]
Chr5:140605069 [GRCh37]
Chr5:5q31.3
likely benign
NM_018934.4(PCDHB14):c.1398C>T (p.Pro466=) single nucleotide variant not provided [RCV003428644] Chr5:141224903 [GRCh38]
Chr5:140604475 [GRCh37]
Chr5:5q31.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:160
Count of miRNA genes:100
Interacting mature miRNAs:101
Transcripts:ENST00000239449, ENST00000515856
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.


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 49 176 77 15 15 82 31 243 76 192 76 2 62
Low 2321 2029 1482 449 592 290 4062 1948 3445 331 1241 1503 168 1204 2536 3
Below cutoff 59 476 162 157 728 158 208 211 20 11 14 27 190 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_000017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI206913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA103105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA320459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000239449   ⟹   ENSP00000239449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,223,343 - 141,227,759 (+)Ensembl
RefSeq Acc Id: ENST00000624896   ⟹   ENSP00000485055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,223,359 - 141,226,093 (+)Ensembl
RefSeq Acc Id: NM_018934   ⟹   NP_061757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,223,343 - 141,227,759 (+)NCBI
GRCh375140,603,078 - 140,605,860 (+)RGD
Build 365140,583,262 - 140,586,044 (+)NCBI Archive
Celera5136,679,902 - 136,682,684 (+)RGD
HuRef5135,747,959 - 135,750,921 (+)NCBI
CHM1_15140,035,098 - 140,039,060 (+)NCBI
T2T-CHM13v2.05141,748,654 - 141,753,070 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061757   ⟸   NM_018934
- Peptide Label: precursor
- UniProtKB: Q4FZA4 (UniProtKB/Swiss-Prot),   B4DPE2 (UniProtKB/Swiss-Prot),   Q4KN11 (UniProtKB/Swiss-Prot),   Q9Y5E9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000485055   ⟸   ENST00000624896
RefSeq Acc Id: ENSP00000239449   ⟸   ENST00000239449
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5E9-F1-model_v2 AlphaFold Q9Y5E9 1-798 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8685 AgrOrtholog
COSMIC PCDHB14 COSMIC
Ensembl Genes ENSG00000120327 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000291693 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000239449 ENTREZGENE
  ENST00000239449.7 UniProtKB/Swiss-Prot
  ENST00000624896.1 UniProtKB/Swiss-Prot
  ENST00000708384.1 UniProtKB/Swiss-Prot
  ENST00000708385.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000120327 GTEx
  ENSG00000291693 GTEx
HGNC ID HGNC:8685 ENTREZGENE
Human Proteome Map PCDHB14 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_C UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_N UniProtKB/Swiss-Prot
KEGG Report hsa:56122 UniProtKB/Swiss-Prot
NCBI Gene 56122 ENTREZGENE
OMIM 606340 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot
  PROTOCADHERIN BETA-14 UniProtKB/Swiss-Prot
Pfam Cadherin UniProtKB/Swiss-Prot
  Cadherin_2 UniProtKB/Swiss-Prot
  Cadherin_C_2 UniProtKB/Swiss-Prot
PharmGKB PA33030 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
SMART SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot
UniProt B4DPE2 ENTREZGENE
  PCDBE_HUMAN UniProtKB/Swiss-Prot
  Q4FZA4 ENTREZGENE
  Q4KN11 ENTREZGENE
  Q9Y5E9 ENTREZGENE
UniProt Secondary B4DPE2 UniProtKB/Swiss-Prot
  Q4FZA4 UniProtKB/Swiss-Prot
  Q4KN11 UniProtKB/Swiss-Prot