PCDHB7 (protocadherin beta 7) - Rat Genome Database

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Gene: PCDHB7 (protocadherin beta 7) Homo sapiens
Analyze
Symbol: PCDHB7
Name: protocadherin beta 7
RGD ID: 1314071
HGNC Page HGNC:8692
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC111391; MGC163205; PCDH-beta-7; PCDH-BETA7; protocadherin beta-7
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh385141,172,644 - 141,176,383 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,172,644 - 141,176,383 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,552,225 - 140,555,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,532,427 - 140,536,141 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,532,426 - 140,536,141NCBI
Celera5136,629,070 - 136,632,784 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,697,287 - 135,701,001 (+)NCBIHuRef
CHM1_15139,985,434 - 139,989,148 (+)NCBICHM1_1
T2T-CHM13v2.05141,697,965 - 141,701,704 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

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:8125298   PMID:10380929   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:11322959   PMID:12477932   PMID:16344560   PMID:21873635   PMID:28514442   PMID:31527615  
PMID:33961781  


Genomics

Comparative Map Data
PCDHB7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,172,644 - 141,176,383 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,172,644 - 141,176,383 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,552,225 - 140,555,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,532,427 - 140,536,141 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,532,426 - 140,536,141NCBI
Celera5136,629,070 - 136,632,784 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,697,287 - 135,701,001 (+)NCBIHuRef
CHM1_15139,985,434 - 139,989,148 (+)NCBICHM1_1
T2T-CHM13v2.05141,697,965 - 141,701,704 (+)NCBIT2T-CHM13v2.0
Pcdhb15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,606,599 - 37,609,393 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,606,593 - 37,609,393 (+)EnsemblGRCm39 Ensembl
GRCm381837,473,546 - 37,476,340 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,473,540 - 37,476,340 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,633,200 - 37,635,994 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,599,520 - 37,602,314 (+)NCBIMGSCv36mm8
Celera1838,824,843 - 38,827,637 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.5NCBI
Pcdhb15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,454,334 - 29,457,872 (+)NCBIGRCr8
mRatBN7.21829,178,869 - 29,183,847 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,181,052 - 29,183,804 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01830,548,513 - 30,553,559 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01830,257,321 - 30,260,595 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,285,427 - 30,287,829 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11830,312,114 - 30,314,473 (+)NCBI
Celera1828,874,665 - 28,879,709 (+)NCBICelera
Cytogenetic Map18p11NCBI
LOC100988774
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24136,425,237 - 136,431,943 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15134,564,126 - 134,571,248 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05136,526,139 - 136,538,754 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15142,649,582 - 142,652,437 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5142,649,791 - 142,652,172 (+)Ensemblpanpan1.1panPan2
LOC487174
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,221,120 - 36,224,409 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl236,221,689 - 36,224,082 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha233,273,023 - 33,276,315 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,675,726 - 36,679,020 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl236,676,134 - 36,679,018 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1233,749,780 - 33,753,072 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,560,775 - 34,564,066 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0235,368,431 - 35,371,723 (+)NCBIUU_Cfam_GSD_1.0
Pcdhb7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213151,360,354 - 151,363,852 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493650412,934,327 - 12,937,809 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110259513
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2142,882,597 - 142,885,139 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12142,881,259 - 142,886,600 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103244686
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12343,799,239 - 43,802,147 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603434,053,631 - 34,065,969 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PCDHB7
55 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_018940.3(PCDHB7):c.279G>A (p.Glu93=) single nucleotide variant Malignant melanoma [RCV000066711] Chr5:141173114 [GRCh38]
Chr5:140552695 [GRCh37]
Chr5:140532879 [NCBI36]
Chr5:5q31.3
not provided
NM_018940.3(PCDHB7):c.1192G>A (p.Glu398Lys) single nucleotide variant Malignant melanoma [RCV000066712] Chr5:141174027 [GRCh38]
Chr5:140553608 [GRCh37]
Chr5:140533792 [NCBI36]
Chr5:5q31.3
not provided
NM_018940.3(PCDHB7):c.1286C>T (p.Pro429Leu) single nucleotide variant Malignant melanoma [RCV000066713] Chr5:141174121 [GRCh38]
Chr5:140553702 [GRCh37]
Chr5:140533886 [NCBI36]
Chr5:5q31.3
not provided
NM_018940.3(PCDHB7):c.1287C>T (p.Pro429=) single nucleotide variant Malignant melanoma [RCV000061148] Chr5:141174122 [GRCh38]
Chr5:140553703 [GRCh37]
Chr5:140533887 [NCBI36]
Chr5:5q31.3
not provided
NM_019120.4(PCDHB8):c.538C>T (p.Arg180Trp) single nucleotide variant Malignant melanoma [RCV000066714] Chr5:141178572 [GRCh38]
Chr5:140558153 [GRCh37]
Chr5:140538337 [NCBI36]
Chr5:5q31.3
not provided
NM_019120.4(PCDHB8):c.931G>A (p.Glu311Lys) single nucleotide variant Malignant melanoma [RCV000066715] Chr5:141178965 [GRCh38]
Chr5:140558546 [GRCh37]
Chr5:140538730 [NCBI36]
Chr5:5q31.3
not provided
NM_019120.4(PCDHB8):c.1848C>T (p.Phe616=) single nucleotide variant Malignant melanoma [RCV000066716] Chr5:141179882 [GRCh38]
Chr5:140559463 [GRCh37]
Chr5:140539647 [NCBI36]
Chr5:5q31.3
not provided
NM_019120.4(PCDHB8):c.2127C>T (p.Phe709=) single nucleotide variant Malignant melanoma [RCV000066717] Chr5:141180161 [GRCh38]
Chr5:140559742 [GRCh37]
Chr5:140539926 [NCBI36]
Chr5:5q31.3
not provided
NM_019120.4(PCDHB8):c.385G>A (p.Asp129Asn) single nucleotide variant Malignant melanoma [RCV000061149] Chr5:141178419 [GRCh38]
Chr5:140558000 [GRCh37]
Chr5:140538184 [NCBI36]
Chr5:5q31.3
not provided
NM_019120.4(PCDHB8):c.713A>G (p.Asp238Gly) single nucleotide variant Malignant melanoma [RCV000061150] Chr5:141178747 [GRCh38]
Chr5:140558328 [GRCh37]
Chr5:140538512 [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 [RCV002231249]|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_018940.4(PCDHB7):c.914C>G (p.Ala305Gly) single nucleotide variant Inborn genetic diseases [RCV003266564] Chr5:141173749 [GRCh38]
Chr5:140553330 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1514C>A (p.Ser505Tyr) single nucleotide variant Inborn genetic diseases [RCV003266247] Chr5:141174349 [GRCh38]
Chr5:140553930 [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
GRCh37/hg19 5q31.3(chr5:140552558-140558865)x3 copy number gain not provided [RCV000745224] Chr5:140552558..140558865 [GRCh37]
Chr5:5q31.3
benign
GRCh37/hg19 5q31.3(chr5:140553581-140558865)x3 copy number gain not provided [RCV000745225] Chr5:140553581..140558865 [GRCh37]
Chr5:5q31.3
benign
GRCh37/hg19 5q31.3(chr5:140554808-140558865)x3 copy number gain not provided [RCV000745226] Chr5:140554808..140558865 [GRCh37]
Chr5:5q31.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_018940.4(PCDHB7):c.2353C>A (p.Arg785Ser) single nucleotide variant Inborn genetic diseases [RCV003288865] Chr5:141175188 [GRCh38]
Chr5:140554769 [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_018940.4(PCDHB7):c.1894G>T (p.Glu632Ter) single nucleotide variant not provided [RCV000974208] Chr5:141174729 [GRCh38]
Chr5:140554310 [GRCh37]
Chr5:5q31.3
benign
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_018940.4(PCDHB7):c.458T>G (p.Leu153Arg) single nucleotide variant Inborn genetic diseases [RCV003252939] Chr5:141173293 [GRCh38]
Chr5:140552874 [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_018940.4(PCDHB7):c.1067T>C (p.Ile356Thr) single nucleotide variant Inborn genetic diseases [RCV002992052] Chr5:141173902 [GRCh38]
Chr5:140553483 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1334A>G (p.Asn445Ser) single nucleotide variant Inborn genetic diseases [RCV002684920] Chr5:141174169 [GRCh38]
Chr5:140553750 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1364C>T (p.Ser455Phe) single nucleotide variant Inborn genetic diseases [RCV002883428] Chr5:141174199 [GRCh38]
Chr5:140553780 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1667A>T (p.Asp556Val) single nucleotide variant Inborn genetic diseases [RCV002865420] Chr5:141174502 [GRCh38]
Chr5:140554083 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1954C>T (p.Arg652Cys) single nucleotide variant Inborn genetic diseases [RCV002689936] Chr5:141174789 [GRCh38]
Chr5:140554370 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1169C>T (p.Pro390Leu) single nucleotide variant Inborn genetic diseases [RCV002688542] Chr5:141174004 [GRCh38]
Chr5:140553585 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1708G>A (p.Ala570Thr) single nucleotide variant Inborn genetic diseases [RCV002991994] Chr5:141174543 [GRCh38]
Chr5:140554124 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1352T>C (p.Phe451Ser) single nucleotide variant Inborn genetic diseases [RCV002752217] Chr5:141174187 [GRCh38]
Chr5:140553768 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1124C>T (p.Ser375Phe) single nucleotide variant Inborn genetic diseases [RCV002753880] Chr5:141173959 [GRCh38]
Chr5:140553540 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.721G>A (p.Asp241Asn) single nucleotide variant Inborn genetic diseases [RCV002727779] Chr5:141173556 [GRCh38]
Chr5:140553137 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.2150C>A (p.Ala717Glu) single nucleotide variant Inborn genetic diseases [RCV002882457] Chr5:141174985 [GRCh38]
Chr5:140554566 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1486C>T (p.Pro496Ser) single nucleotide variant Inborn genetic diseases [RCV002779198] Chr5:141174321 [GRCh38]
Chr5:140553902 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1028A>C (p.Asn343Thr) single nucleotide variant Inborn genetic diseases [RCV002906286] Chr5:141173863 [GRCh38]
Chr5:140553444 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.653G>T (p.Gly218Val) single nucleotide variant Inborn genetic diseases [RCV002794388] Chr5:141173488 [GRCh38]
Chr5:140553069 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1122T>A (p.Asp374Glu) single nucleotide variant Inborn genetic diseases [RCV002910870] Chr5:141173957 [GRCh38]
Chr5:140553538 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.769G>T (p.Val257Phe) single nucleotide variant Inborn genetic diseases [RCV002757607] Chr5:141173604 [GRCh38]
Chr5:140553185 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1568C>T (p.Ala523Val) single nucleotide variant Inborn genetic diseases [RCV002707395] Chr5:141174403 [GRCh38]
Chr5:140553984 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.736C>T (p.Leu246Phe) single nucleotide variant Inborn genetic diseases [RCV002782999] Chr5:141173571 [GRCh38]
Chr5:140553152 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.481G>T (p.Asp161Tyr) single nucleotide variant Inborn genetic diseases [RCV002844457] Chr5:141173316 [GRCh38]
Chr5:140552897 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.2044A>G (p.Asn682Asp) single nucleotide variant Inborn genetic diseases [RCV002783972] Chr5:141174879 [GRCh38]
Chr5:140554460 [GRCh37]
Chr5:5q31.3
likely benign
NM_018940.4(PCDHB7):c.506A>G (p.Asn169Ser) single nucleotide variant Inborn genetic diseases [RCV002955231] Chr5:141173341 [GRCh38]
Chr5:140552922 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1607G>C (p.Arg536Pro) single nucleotide variant Inborn genetic diseases [RCV002786888] Chr5:141174442 [GRCh38]
Chr5:140554023 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1015G>C (p.Asp339His) single nucleotide variant Inborn genetic diseases [RCV002956373] Chr5:141173850 [GRCh38]
Chr5:140553431 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1411G>A (p.Gly471Ser) single nucleotide variant Inborn genetic diseases [RCV002956219] Chr5:141174246 [GRCh38]
Chr5:140553827 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1701C>G (p.Asn567Lys) single nucleotide variant Inborn genetic diseases [RCV002696490] Chr5:141174536 [GRCh38]
Chr5:140554117 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.17A>G (p.Glu6Gly) single nucleotide variant Inborn genetic diseases [RCV002767509] Chr5:141172852 [GRCh38]
Chr5:140552433 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.886C>A (p.Pro296Thr) single nucleotide variant Inborn genetic diseases [RCV002787335] Chr5:141173721 [GRCh38]
Chr5:140553302 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1912C>A (p.Gln638Lys) single nucleotide variant Inborn genetic diseases [RCV002669439] Chr5:141174747 [GRCh38]
Chr5:140554328 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1063C>T (p.Pro355Ser) single nucleotide variant Inborn genetic diseases [RCV002813459] Chr5:141173898 [GRCh38]
Chr5:140553479 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1542T>A (p.Phe514Leu) single nucleotide variant Inborn genetic diseases [RCV002812500] Chr5:141174377 [GRCh38]
Chr5:140553958 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1850T>A (p.Val617Glu) single nucleotide variant Inborn genetic diseases [RCV002921790] Chr5:141174685 [GRCh38]
Chr5:140554266 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.2219C>G (p.Thr740Ser) single nucleotide variant Inborn genetic diseases [RCV002809002] Chr5:141175054 [GRCh38]
Chr5:140554635 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1600A>T (p.Thr534Ser) single nucleotide variant Inborn genetic diseases [RCV002964704] Chr5:141174435 [GRCh38]
Chr5:140554016 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1247A>C (p.Glu416Ala) single nucleotide variant Inborn genetic diseases [RCV002855066] Chr5:141174082 [GRCh38]
Chr5:140553663 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.299A>G (p.Glu100Gly) single nucleotide variant Inborn genetic diseases [RCV002792744] Chr5:141173134 [GRCh38]
Chr5:140552715 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1816C>G (p.Leu606Val) single nucleotide variant Inborn genetic diseases [RCV002944740] Chr5:141174651 [GRCh38]
Chr5:140554232 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.181G>T (p.Ala61Ser) single nucleotide variant Inborn genetic diseases [RCV003279628] Chr5:141173016 [GRCh38]
Chr5:140552597 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1736C>T (p.Ala579Val) single nucleotide variant Inborn genetic diseases [RCV003201573] Chr5:141174571 [GRCh38]
Chr5:140554152 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1417G>C (p.Val473Leu) single nucleotide variant Inborn genetic diseases [RCV003188275] Chr5:141174252 [GRCh38]
Chr5:140553833 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1346C>A (p.Pro449His) single nucleotide variant Inborn genetic diseases [RCV003191894] Chr5:141174181 [GRCh38]
Chr5:140553762 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1780G>A (p.Gly594Ser) single nucleotide variant Inborn genetic diseases [RCV003195861] Chr5:141174615 [GRCh38]
Chr5:140554196 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.89C>T (p.Pro30Leu) single nucleotide variant Inborn genetic diseases [RCV003194526] Chr5:141172924 [GRCh38]
Chr5:140552505 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.484G>A (p.Val162Ile) single nucleotide variant Inborn genetic diseases [RCV003263553] Chr5:141173319 [GRCh38]
Chr5:140552900 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.176T>C (p.Leu59Pro) single nucleotide variant Inborn genetic diseases [RCV003208499] Chr5:141173011 [GRCh38]
Chr5:140552592 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1528A>T (p.Asn510Tyr) single nucleotide variant Inborn genetic diseases [RCV003180457] Chr5:141174363 [GRCh38]
Chr5:140553944 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1093G>C (p.Val365Leu) single nucleotide variant Inborn genetic diseases [RCV003262523] Chr5:141173928 [GRCh38]
Chr5:140553509 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.922G>A (p.Asp308Asn) single nucleotide variant Inborn genetic diseases [RCV003359521] Chr5:141173757 [GRCh38]
Chr5:140553338 [GRCh37]
Chr5:5q31.3
likely benign
NM_018940.4(PCDHB7):c.750G>T (p.Gln250His) single nucleotide variant Inborn genetic diseases [RCV003374317] Chr5:141173585 [GRCh38]
Chr5:140553166 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1459A>G (p.Ile487Val) single nucleotide variant Inborn genetic diseases [RCV003350411] Chr5:141174294 [GRCh38]
Chr5:140553875 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018940.4(PCDHB7):c.1411G>C (p.Gly471Arg) single nucleotide variant not provided [RCV003428634] Chr5:141174246 [GRCh38]
Chr5:140553827 [GRCh37]
Chr5:5q31.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:356
Count of miRNA genes:288
Interacting mature miRNAs:309
Transcripts:ENST00000231137
Prediction methods:Miranda
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
SHGC-81568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,550,417 - 140,550,757UniSTSGRCh37
Build 365140,530,601 - 140,530,941RGDNCBI36
Celera5136,627,244 - 136,627,584RGD
Cytogenetic Map5q31UniSTS
HuRef5135,695,461 - 135,695,801UniSTS
TNG Radiation Hybrid Map552340.0UniSTS


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 29 6 5 5 22 4 37 10 49 12 1 8
Low 1933 1955 1231 202 391 79 3192 1255 3367 295 1270 1462 132 1 1201 1963 2 1
Below cutoff 444 501 468 399 502 363 1126 927 329 108 117 98 39 3 817 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_000017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130333 (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
  DA779188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000231137   ⟹   ENSP00000231137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,172,644 - 141,176,383 (+)Ensembl
RefSeq Acc Id: NM_018940   ⟹   NP_061763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,172,644 - 141,176,383 (+)NCBI
GRCh375140,552,243 - 140,555,957 (+)RGD
Build 365140,532,427 - 140,536,141 (+)NCBI Archive
Celera5136,629,070 - 136,632,784 (+)RGD
HuRef5135,697,246 - 135,701,001 (+)NCBI
CHM1_15139,985,393 - 139,989,148 (+)NCBI
T2T-CHM13v2.05141,697,965 - 141,701,704 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061763   ⟸   NM_018940
- Peptide Label: precursor
- UniProtKB: A1L3Y8 (UniProtKB/Swiss-Prot),   Q9Y5E2 (UniProtKB/Swiss-Prot),   Q53HA3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000231137   ⟸   ENST00000231137
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5E2-F1-model_v2 AlphaFold Q9Y5E2 1-793 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8692 AgrOrtholog
COSMIC PCDHB7 COSMIC
Ensembl Genes ENSG00000113212 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000291681 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000231137 ENTREZGENE
  ENST00000231137.6 UniProtKB/Swiss-Prot
  ENST00000708364.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113212 GTEx
  ENSG00000291681 GTEx
HGNC ID HGNC:8692 ENTREZGENE
Human Proteome Map PCDHB7 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
KEGG Report hsa:56129 UniProtKB/Swiss-Prot
NCBI Gene 56129 ENTREZGENE
OMIM 606333 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24028:SF69 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 PA33041 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 A1L3Y8 ENTREZGENE
  PCDB7_HUMAN UniProtKB/Swiss-Prot
  Q4KMG7_HUMAN UniProtKB/TrEMBL
  Q53HA3 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y5E2 ENTREZGENE
UniProt Secondary A1L3Y8 UniProtKB/Swiss-Prot