PCDHGC5 (protocadherin gamma subfamily C, 5) - Rat Genome Database

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Gene: PCDHGC5 (protocadherin gamma subfamily C, 5) Homo sapiens
Analyze
Symbol: PCDHGC5
Name: protocadherin gamma subfamily C, 5
RGD ID: 1353179
HGNC Page HGNC:8718
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within negative regulation of neuron apoptotic process and synapse organization. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC138286; MGC138288; PCDH-GAMMA-C5; protocadherin gamma-C5
RGD Orthologs
Mouse
Rat
Dog
Alliance Genes
More Info more info ...
Related Pseudogenes: PCDHGB9P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,489,081 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,489,081 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,868,648 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,848,992 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,848,991 - 140,851,628NCBI
Celera5136,945,627 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5136,013,646 - 136,037,386 (+)NCBIHuRef
CHM1_15140,302,073 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05142,015,052 - 142,038,959 (+)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:10380929   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:12477932   PMID:18029348   PMID:21832049   PMID:21873635   PMID:23376485   PMID:25798074   PMID:33961781  


Genomics

Comparative Map Data
PCDHGC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,489,081 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,489,081 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,868,648 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,848,992 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,848,991 - 140,851,628NCBI
Celera5136,945,627 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5136,013,646 - 136,037,386 (+)NCBIHuRef
CHM1_15140,302,073 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05142,015,052 - 142,038,959 (+)NCBIT2T-CHM13v2.0
Pcdhgc5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,952,599 - 37,974,926 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,952,566 - 37,974,926 (+)EnsemblGRCm39 Ensembl
GRCm381837,819,546 - 37,841,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,819,513 - 37,841,873 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,979,200 - 38,001,527 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,945,520 - 37,967,847 (+)NCBIMGSCv36mm8
Celera1839,163,021 - 39,185,352 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.69NCBI
Pcdhgc5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,898,430 - 29,917,566 (+)NCBIGRCr8
mRatBN7.21829,647,201 - 29,666,336 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,493,954 - 29,667,868 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1829,751,531 - 29,770,661 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01830,513,479 - 30,532,641 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01829,848,818 - 29,867,982 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01830,964,402 - 30,969,584 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01830,660,087 - 30,660,536 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,752,227 - 30,752,676 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1829,291,177 - 29,310,425 (+)NCBICelera
Cytogenetic Map18p11NCBI
LOC478038
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,297,841 - 36,481,900 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl236,316,678 - 36,480,278 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha233,339,711 - 33,533,913 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,742,430 - 36,935,809 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl236,832,245 - 36,838,095 (+)EnsemblROS_Cfam_1.0 Ensembl
ROS_Cfam_1.0 Ensembl236,761,461 - 36,935,806 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1233,816,473 - 34,010,677 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,627,480 - 34,822,204 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0235,435,129 - 35,629,409 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in PCDHGC5
42 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_018929.2(PCDHGC5):c.2080C>T (p.Leu694Phe) single nucleotide variant Malignant melanoma [RCV000066749] Chr5:141491320 [GRCh38]
Chr5:140870887 [GRCh37]
Chr5:140851071 [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_018929.3(PCDHGC5):c.1610G>A (p.Arg537Gln) single nucleotide variant Inborn genetic diseases [RCV003296480] Chr5:141490850 [GRCh38]
Chr5:140870417 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3 copy number gain See cases [RCV000512526] Chr5:140676272..140929172 [GRCh37]
Chr5:5q31.3
likely benign
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_018913.3(PCDHGA10):c.2673C>T (p.His891=) single nucleotide variant not provided [RCV000928114] Chr5:141511035 [GRCh38]
Chr5:140890602 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.2121C>A (p.Val707=) single nucleotide variant not provided [RCV000903600] Chr5:141491361 [GRCh38]
Chr5:140870928 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.2640C>T (p.Ser880=) single nucleotide variant not provided [RCV000914990] Chr5:141511002 [GRCh38]
Chr5:140890569 [GRCh37]
Chr5:5q31.3
likely benign
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_002588.4(PCDHGC3):c.2646A>G (p.Gly882=) single nucleotide variant not provided [RCV000897354] Chr5:141511014 [GRCh38]
Chr5:140890581 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.1965A>G (p.Ser655=) single nucleotide variant not provided [RCV000975083] Chr5:141491205 [GRCh38]
Chr5:140870772 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.1173G>A (p.Pro391=) single nucleotide variant not provided [RCV000956314] Chr5:141490413 [GRCh38]
Chr5:140869980 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.1407G>A (p.Pro469=) single nucleotide variant not provided [RCV000956315] Chr5:141490647 [GRCh38]
Chr5:140870214 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.2013T>C (p.Pro671=) single nucleotide variant not provided [RCV000956316] Chr5:141491253 [GRCh38]
Chr5:140870820 [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_018929.3(PCDHGC5):c.95G>A (p.Arg32His) single nucleotide variant Inborn genetic diseases [RCV002754361] Chr5:141489335 [GRCh38]
Chr5:140868902 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.2765G>A (p.Arg922His) single nucleotide variant Inborn genetic diseases [RCV002973702] Chr5:141511049 [GRCh38]
Chr5:140890616 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1531C>T (p.Pro511Ser) single nucleotide variant Inborn genetic diseases [RCV002841183] Chr5:141490771 [GRCh38]
Chr5:140870338 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.967C>T (p.Arg323Cys) single nucleotide variant Inborn genetic diseases [RCV002902754] Chr5:141490207 [GRCh38]
Chr5:140869774 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.967C>G (p.Arg323Gly) single nucleotide variant Inborn genetic diseases [RCV003013072] Chr5:141490207 [GRCh38]
Chr5:140869774 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.684C>G (p.Ile228Met) single nucleotide variant Inborn genetic diseases [RCV002901752] Chr5:141489924 [GRCh38]
Chr5:140869491 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.353G>A (p.Arg118His) single nucleotide variant Inborn genetic diseases [RCV002659935] Chr5:141489593 [GRCh38]
Chr5:140869160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2351G>A (p.Gly784Asp) single nucleotide variant Inborn genetic diseases [RCV002868150] Chr5:141491591 [GRCh38]
Chr5:140871158 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2392C>A (p.Pro798Thr) single nucleotide variant Inborn genetic diseases [RCV002797409] Chr5:141491632 [GRCh38]
Chr5:140871199 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.218G>A (p.Arg73His) single nucleotide variant Inborn genetic diseases [RCV002693330] Chr5:141489458 [GRCh38]
Chr5:140869025 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.421C>T (p.Arg141Cys) single nucleotide variant Inborn genetic diseases [RCV002739398] Chr5:141489661 [GRCh38]
Chr5:140869228 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr) single nucleotide variant Inborn genetic diseases [RCV002844427] Chr5:141491083 [GRCh38]
Chr5:140870650 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.941G>A (p.Arg314His) single nucleotide variant Inborn genetic diseases [RCV002978781] Chr5:141490181 [GRCh38]
Chr5:140869748 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2304C>G (p.Asp768Glu) single nucleotide variant Inborn genetic diseases [RCV002668145] Chr5:141491544 [GRCh38]
Chr5:140871111 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1129C>T (p.Arg377Trp) single nucleotide variant Inborn genetic diseases [RCV002743829] Chr5:141490369 [GRCh38]
Chr5:140869936 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1714G>A (p.Glu572Lys) single nucleotide variant Inborn genetic diseases [RCV002742108] Chr5:141490954 [GRCh38]
Chr5:140870521 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2084T>C (p.Ile695Thr) single nucleotide variant Inborn genetic diseases [RCV003006603] Chr5:141491324 [GRCh38]
Chr5:140870891 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1130G>A (p.Arg377Gln) single nucleotide variant Inborn genetic diseases [RCV002698663] Chr5:141490370 [GRCh38]
Chr5:140869937 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1585A>T (p.Met529Leu) single nucleotide variant Inborn genetic diseases [RCV002836093] Chr5:141490825 [GRCh38]
Chr5:140870392 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1153G>A (p.Val385Met) single nucleotide variant Inborn genetic diseases [RCV002920461] Chr5:141490393 [GRCh38]
Chr5:140869960 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.890C>A (p.Pro297His) single nucleotide variant Inborn genetic diseases [RCV002769865] Chr5:141490130 [GRCh38]
Chr5:140869697 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.968G>A (p.Arg323His) single nucleotide variant Inborn genetic diseases [RCV003008772] Chr5:141490208 [GRCh38]
Chr5:140869775 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.707A>G (p.Asn236Ser) single nucleotide variant Inborn genetic diseases [RCV002673562] Chr5:141489947 [GRCh38]
Chr5:140869514 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.31G>A (p.Gly11Arg) single nucleotide variant Inborn genetic diseases [RCV003219910] Chr5:141489271 [GRCh38]
Chr5:140868838 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2443C>G (p.Leu815Val) single nucleotide variant Inborn genetic diseases [RCV003220538] Chr5:141491683 [GRCh38]
Chr5:140871250 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2030C>G (p.Ser677Cys) single nucleotide variant Inborn genetic diseases [RCV003212739] Chr5:141491270 [GRCh38]
Chr5:140870837 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2170G>T (p.Asp724Tyr) single nucleotide variant Inborn genetic diseases [RCV003201204] Chr5:141491410 [GRCh38]
Chr5:140870977 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1634A>G (p.His545Arg) single nucleotide variant Inborn genetic diseases [RCV003197636] Chr5:141490874 [GRCh38]
Chr5:140870441 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1406C>G (p.Pro469Arg) single nucleotide variant Inborn genetic diseases [RCV003204042] Chr5:141490646 [GRCh38]
Chr5:140870213 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2300C>A (p.Thr767Lys) single nucleotide variant Inborn genetic diseases [RCV003193587] Chr5:141491540 [GRCh38]
Chr5:140871107 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1886G>A (p.Arg629His) single nucleotide variant Inborn genetic diseases [RCV003264729] Chr5:141491126 [GRCh38]
Chr5:140870693 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2426G>A (p.Arg809Gln) single nucleotide variant Inborn genetic diseases [RCV003356760] Chr5:141491666 [GRCh38]
Chr5:140871233 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.2431C>A (p.Gln811Lys) single nucleotide variant Inborn genetic diseases [RCV003359175] Chr5:141494807 [GRCh38]
Chr5:140874374 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His) single nucleotide variant Inborn genetic diseases [RCV003379302] Chr5:141489969 [GRCh38]
Chr5:140869536 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1202A>T (p.Glu401Val) single nucleotide variant Inborn genetic diseases [RCV003383423] Chr5:141490442 [GRCh38]
Chr5:140870009 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2014G>A (p.Glu672Lys) single nucleotide variant Inborn genetic diseases [RCV003367097] Chr5:141491254 [GRCh38]
Chr5:140870821 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.2502C>T (p.Thr834=) single nucleotide variant not provided [RCV003429858] Chr5:141505414 [GRCh38]
Chr5:140884981 [GRCh37]
Chr5:5q31.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1152
Count of miRNA genes:638
Interacting mature miRNAs:748
Transcripts:ENST00000252087
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
RH91455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,892,257 - 140,892,430UniSTSGRCh37
Build 365140,872,441 - 140,872,614RGDNCBI36
Celera5136,968,993 - 136,969,166RGD
Cytogenetic Map5q31UniSTS
HuRef5136,037,097 - 136,037,270UniSTS
GeneMap99-GB4 RH Map5531.52UniSTS
PCDHGA10_7046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,891,154 - 140,891,687UniSTSGRCh37
Build 365140,871,338 - 140,871,871RGDNCBI36
Celera5136,967,890 - 136,968,423RGD
HuRef5136,035,994 - 136,036,527UniSTS
AF022190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,880,757 - 140,881,058UniSTSGRCh37
Build 365140,860,941 - 140,861,242RGDNCBI36
Celera5136,957,497 - 136,957,794RGD
Cytogenetic Map5q31UniSTS
HuRef5136,025,593 - 136,025,890UniSTS
T03558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,892,346 - 140,892,445UniSTSGRCh37
Build 365140,872,530 - 140,872,629RGDNCBI36
Celera5136,969,082 - 136,969,181RGD
Cytogenetic Map5q31UniSTS
HuRef5136,037,186 - 136,037,285UniSTS
Whitehead-YAC Contig Map5 UniSTS
SHGC-76190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,891,057 - 140,891,205UniSTSGRCh37
Build 365140,871,241 - 140,871,389RGDNCBI36
Celera5136,967,793 - 136,967,941RGD
Cytogenetic Map5q31UniSTS
HuRef5136,035,897 - 136,036,045UniSTS
TNG Radiation Hybrid Map565309.0UniSTS
GeneMap99-GB4 RH Map1673.83UniSTS
Whitehead-RH Map1829.9UniSTS
NCBI RH Map11743.5UniSTS


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 2 5 4 1 1 3 9 580 2 3 1 2
Low 1630 2029 935 139 168 23 3246 1730 2844 89 1128 1067 123 688 2202
Below cutoff 709 590 664 370 1099 329 1094 447 304 213 258 481 47 516 584 4

Sequence


RefSeq Acc Id: ENST00000252087   ⟹   ENSP00000252087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,489,081 - 141,512,975 (+)Ensembl
RefSeq Acc Id: ENST00000610789   ⟹   ENSP00000482569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,489,167 - 141,491,929 (+)Ensembl
RefSeq Acc Id: NM_018929   ⟹   NP_061752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,489,081 - 141,512,975 (+)NCBI
GRCh375140,868,808 - 140,892,546 (+)RGD
Build 365140,848,992 - 140,872,730 (+)NCBI Archive
Celera5136,945,627 - 136,969,282 (+)RGD
HuRef5136,013,646 - 136,037,386 (+)ENTREZGENE
CHM1_15140,302,073 - 140,325,823 (+)NCBI
T2T-CHM13v2.05142,015,052 - 142,038,959 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032407   ⟹   NP_115783
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,489,241 - 141,491,877 (+)NCBI
GRCh375140,868,808 - 140,892,546 (+)RGD
Build 365140,848,992 - 140,851,628 (+)NCBI Archive
Celera5136,945,627 - 136,969,282 (+)RGD
HuRef5136,013,646 - 136,037,386 (+)ENTREZGENE
CHM1_15140,302,073 - 140,304,709 (+)NCBI
T2T-CHM13v2.05142,015,212 - 142,017,848 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061752   ⟸   NM_018929
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9Y5C2 (UniProtKB/Swiss-Prot),   Q9Y5F6 (UniProtKB/Swiss-Prot),   Q2M272 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_115783   ⟸   NM_032407
- Peptide Label: isoform 2 precursor
- UniProtKB: Q2M272 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000252087   ⟸   ENST00000252087
RefSeq Acc Id: ENSP00000482569   ⟸   ENST00000610789
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5F6-F1-model_v2 AlphaFold Q9Y5F6 1-944 view protein structure

Promoters
RGD ID:6871028
Promoter ID:EPDNEW_H8678
Type:initiation region
Name:PCDHGC5_2
Description:protocadherin gamma subfamily C, 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8648  EPDNEW_H8672  EPDNEW_H8676  EPDNEW_H8679  EPDNEW_H8680  EPDNEW_H8681  EPDNEW_H8682  EPDNEW_H8683  EPDNEW_H8684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,489,120 - 141,489,180EPDNEW
RGD ID:6871030
Promoter ID:EPDNEW_H8679
Type:initiation region
Name:PCDHGC5_8
Description:protocadherin gamma subfamily C, 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8648  EPDNEW_H8672  EPDNEW_H8676  EPDNEW_H8678  EPDNEW_H8680  EPDNEW_H8681  EPDNEW_H8682  EPDNEW_H8683  EPDNEW_H8684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,489,352 - 141,489,412EPDNEW
RGD ID:6871032
Promoter ID:EPDNEW_H8680
Type:single initiation site
Name:PCDHGC5_6
Description:protocadherin gamma subfamily C, 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8648  EPDNEW_H8672  EPDNEW_H8676  EPDNEW_H8678  EPDNEW_H8679  EPDNEW_H8681  EPDNEW_H8682  EPDNEW_H8683  EPDNEW_H8684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,493,811 - 141,493,871EPDNEW
RGD ID:6871034
Promoter ID:EPDNEW_H8681
Type:initiation region
Name:PCDHGC5_4
Description:protocadherin gamma subfamily C, 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8648  EPDNEW_H8672  EPDNEW_H8676  EPDNEW_H8678  EPDNEW_H8679  EPDNEW_H8680  EPDNEW_H8682  EPDNEW_H8683  EPDNEW_H8684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,494,824 - 141,494,884EPDNEW
RGD ID:6871036
Promoter ID:EPDNEW_H8682
Type:initiation region
Name:PCDHGC5_3
Description:protocadherin gamma subfamily C, 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8648  EPDNEW_H8672  EPDNEW_H8676  EPDNEW_H8678  EPDNEW_H8679  EPDNEW_H8680  EPDNEW_H8681  EPDNEW_H8683  EPDNEW_H8684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,508,186 - 141,508,246EPDNEW
RGD ID:6871038
Promoter ID:EPDNEW_H8683
Type:initiation region
Name:PCDHGC5_9
Description:protocadherin gamma subfamily C, 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8648  EPDNEW_H8672  EPDNEW_H8676  EPDNEW_H8678  EPDNEW_H8679  EPDNEW_H8680  EPDNEW_H8681  EPDNEW_H8682  EPDNEW_H8684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,511,583 - 141,511,643EPDNEW
RGD ID:6871040
Promoter ID:EPDNEW_H8684
Type:initiation region
Name:PCDHGC5_5
Description:protocadherin gamma subfamily C, 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8648  EPDNEW_H8672  EPDNEW_H8676  EPDNEW_H8678  EPDNEW_H8679  EPDNEW_H8680  EPDNEW_H8681  EPDNEW_H8682  EPDNEW_H8683  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,512,160 - 141,512,220EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8718 AgrOrtholog
COSMIC PCDHGC5 COSMIC
Ensembl Genes ENSG00000240764 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252087 ENTREZGENE
  ENST00000252087.3 UniProtKB/Swiss-Prot
  ENST00000610789 ENTREZGENE
  ENST00000610789.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000240764 GTEx
HGNC ID HGNC:8718 ENTREZGENE
Human Proteome Map PCDHGC5 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_CBD UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56097 UniProtKB/Swiss-Prot
NCBI Gene 56097 ENTREZGENE
OMIM 606306 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTOCADHERIN GAMMA-C5 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
  Cadherin_tail UniProtKB/Swiss-Prot
PharmGKB PA33066 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 PCDGM_HUMAN UniProtKB/Swiss-Prot
  Q2M272 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y5C2 ENTREZGENE
  Q9Y5F6 ENTREZGENE
UniProt Secondary Q9Y5C2 UniProtKB/Swiss-Prot