PCDH17 (protocadherin 17) - Rat Genome Database

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Gene: PCDH17 (protocadherin 17) Homo sapiens
Analyze
Symbol: PCDH17
Name: protocadherin 17
RGD ID: 1312379
HGNC Page HGNC:14267
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within several processes, including negative regulation of synaptic transmission; presynaptic active zone assembly; and regulation of synaptic vesicle clustering. Predicted to be located in membrane. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and synaptic membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PCDH68; PCH68; protocadherin 68; protocadherin-17; protocadherin-68
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381357,630,108 - 57,729,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1357,631,744 - 57,729,311 (+)EnsemblGRCh38hg38GRCh38
GRCh371358,205,878 - 58,303,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361357,103,790 - 57,201,066 (+)NCBINCBI36Build 36hg18NCBI36
Build 341357,103,944 - 57,198,155NCBI
Celera1339,160,322 - 39,257,584 (+)NCBICelera
Cytogenetic Map13q21.1NCBI
HuRef1338,887,937 - 38,985,207 (+)NCBIHuRef
CHM1_11358,173,338 - 58,270,626 (+)NCBICHM1_1
T2T-CHM13v2.01356,846,361 - 56,945,624 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
astemizole  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chrysene  (ISO)
clobetasol  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fucoxanthin  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
lipopolysaccharide  (EXP)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
miconazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
sulindac  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetraphene  (ISO)
titanium dioxide  (EXP,ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

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:10716726   PMID:10817752   PMID:10835267   PMID:11082270   PMID:12477932   PMID:14702039   PMID:15057823   PMID:15342556   PMID:15489334   PMID:15604093   PMID:15905963   PMID:16344560  
PMID:16713569   PMID:17464717   PMID:17672918   PMID:17978184   PMID:18353903   PMID:18718692   PMID:19449025   PMID:19945174   PMID:20180417   PMID:20200074   PMID:21213369   PMID:21873635  
PMID:22207556   PMID:22589738   PMID:22926751   PMID:23684785   PMID:24366498   PMID:24567353   PMID:26386721   PMID:26404644   PMID:26683656   PMID:26700620   PMID:27351130   PMID:27643535  
PMID:28070120   PMID:28514442   PMID:28688232   PMID:29566279   PMID:29676528   PMID:29991130   PMID:30021884   PMID:30165032   PMID:30213786   PMID:30454973   PMID:30922328   PMID:31871319  
PMID:31994011   PMID:32296183   PMID:32393512   PMID:33896826   PMID:33961781   PMID:34672954   PMID:36215168   PMID:36698136   PMID:37038329   PMID:38145746   PMID:39499777  


Genomics

Comparative Map Data
PCDH17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381357,630,108 - 57,729,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1357,631,744 - 57,729,311 (+)EnsemblGRCh38hg38GRCh38
GRCh371358,205,878 - 58,303,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361357,103,790 - 57,201,066 (+)NCBINCBI36Build 36hg18NCBI36
Build 341357,103,944 - 57,198,155NCBI
Celera1339,160,322 - 39,257,584 (+)NCBICelera
Cytogenetic Map13q21.1NCBI
HuRef1338,887,937 - 38,985,207 (+)NCBIHuRef
CHM1_11358,173,338 - 58,270,626 (+)NCBICHM1_1
T2T-CHM13v2.01356,846,361 - 56,945,624 (+)NCBIT2T-CHM13v2.0
Pcdh17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391484,680,626 - 84,775,005 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1484,681,003 - 84,776,442 (+)EnsemblGRCm39 Ensembl
GRCm381484,443,563 - 84,537,565 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1484,443,563 - 84,539,002 (+)EnsemblGRCm38mm10GRCm38
MGSCv371484,843,370 - 84,936,867 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361483,253,698 - 83,342,225 (+)NCBIMGSCv36mm8
Celera1481,944,000 - 82,037,467 (+)NCBICelera
Cytogenetic Map14D3NCBI
cM Map1443.54NCBI
Pcdh17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81566,631,549 - 66,725,007 (+)NCBIGRCr8
mRatBN7.21560,222,088 - 60,316,172 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1560,222,004 - 60,313,999 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1564,338,162 - 64,427,126 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01565,451,249 - 65,540,381 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01562,315,212 - 62,404,183 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01567,555,835 - 67,647,990 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1567,555,835 - 67,645,088 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01571,182,073 - 71,273,939 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41566,391,901 - 66,482,530 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11566,405,272 - 66,600,882 (+)NCBI
Celera1559,754,674 - 59,843,809 (+)NCBICelera
Cytogenetic Map15q12NCBI
Pcdh17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540446,791,148 - 46,886,918 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540446,795,303 - 46,886,918 (-)NCBIChiLan1.0ChiLan1.0
PCDH17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21459,109,655 - 59,208,933 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11357,739,260 - 57,838,536 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01338,801,514 - 38,900,811 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11357,532,850 - 57,631,725 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1357,532,850 - 57,631,725 (+)Ensemblpanpan1.1panPan2
PCDH17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12213,865,138 - 13,962,110 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2213,865,900 - 13,958,405 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2213,835,266 - 13,930,999 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02214,087,985 - 14,184,578 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2214,088,068 - 14,180,869 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12213,793,476 - 13,885,812 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02213,818,958 - 13,910,969 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02213,837,878 - 13,933,995 (+)NCBIUU_Cfam_GSD_1.0
Pcdh17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945147,355,309 - 147,452,093 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936820765,100 - 861,667 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936820764,016 - 860,325 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCDH17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1130,511,275 - 30,611,727 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11130,510,779 - 30,611,732 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21131,998,284 - 32,036,732 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PCDH17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1335,423,998 - 35,518,776 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl335,426,230 - 35,519,023 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660578,229,314 - 8,327,911 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pcdh17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474818,958,276 - 19,054,381 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474818,958,250 - 19,056,278 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PCDH17
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
NM_001040429.2(PCDH17):c.3270C>T (p.Phe1090=) single nucleotide variant Malignant melanoma [RCV000070394] Chr13:57725084 [GRCh38]
Chr13:58299218 [GRCh37]
Chr13:57197219 [NCBI36]
Chr13:13q21.1
not provided
NM_001040429.2(PCDH17):c.3005G>A (p.Gly1002Glu) single nucleotide variant Malignant melanoma [RCV000062689] Chr13:57724819 [GRCh38]
Chr13:58298953 [GRCh37]
Chr13:57196954 [NCBI36]
Chr13:13q21.1
not provided
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q21.1(chr13:54988722-57837457)x1 copy number loss See cases [RCV000140719] Chr13:54988722..57837457 [GRCh38]
Chr13:55562857..58411591 [GRCh37]
Chr13:54460858..57309592 [NCBI36]
Chr13:13q21.1
uncertain significance
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32
pathogenic
GRCh38/hg38 13q21.1-21.31(chr13:55851510-63770251)x1 copy number loss See cases [RCV000142460] Chr13:55851510..63770251 [GRCh38]
Chr13:56425644..64344384 [GRCh37]
Chr13:55323645..63242385 [NCBI36]
Chr13:13q21.1-21.31
uncertain significance
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-21.33(chr13:56987542-69758302)x3 copy number gain See cases [RCV000449267] Chr13:56987542..69758302 [GRCh37]
Chr13:13q21.1-21.33
pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q21.1(chr13:58288521-58432447)x1 copy number loss See cases [RCV000449174] Chr13:58288521..58432447 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001040429.3(PCDH17):c.2428C>G (p.Arg810Gly) single nucleotide variant not specified [RCV004333647] Chr13:57634974 [GRCh38]
Chr13:58209108 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1689G>T (p.Leu563Phe) single nucleotide variant not specified [RCV004305508] Chr13:57634235 [GRCh38]
Chr13:58208369 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.691G>T (p.Val231Leu) single nucleotide variant not specified [RCV004307337] Chr13:57633237 [GRCh38]
Chr13:58207371 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1189A>G (p.Thr397Ala) single nucleotide variant not specified [RCV004285919] Chr13:57633735 [GRCh38]
Chr13:58207869 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1
pathogenic
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3 copy number gain not provided [RCV000683569] Chr13:51939350..66854666 [GRCh37]
Chr13:13q14.3-21.32
likely pathogenic
GRCh37/hg19 13q21.1(chr13:56519744-58546632)x1 copy number loss not provided [RCV000683552] Chr13:56519744..58546632 [GRCh37]
Chr13:13q21.1
likely benign
GRCh37/hg19 13q21.1-21.2(chr13:55639124-60081983)x1 copy number loss not provided [RCV000683562] Chr13:55639124..60081983 [GRCh37]
Chr13:13q21.1-21.2
uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1(chr13:58233322-58259492)x1 copy number loss not provided [RCV000738210] Chr13:58233322..58259492 [GRCh37]
Chr13:13q21.1
benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 copy number loss not provided [RCV000750731] Chr13:57058434..94684615 [GRCh37]
Chr13:13q21.1-31.3
pathogenic
NM_001040429.3(PCDH17):c.3326G>A (p.Arg1109Gln) single nucleotide variant not specified [RCV004309038] Chr13:57725140 [GRCh38]
Chr13:58299274 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q14.3-21.31(chr13:54638436-63254336)x3 copy number gain See cases [RCV000790596] Chr13:54638436..63254336 [GRCh37]
Chr13:13q14.3-21.31
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 copy number loss not provided [RCV000846575] Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2
uncertain significance
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3
pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
GRCh37/hg19 13q21.1-21.2(chr13:56995787-59674029)x3 copy number gain not provided [RCV001006569] Chr13:56995787..59674029 [GRCh37]
Chr13:13q21.1-21.2
uncertain significance
GRCh37/hg19 13q14.3-21.1(chr13:55143754-58453133)x3 copy number gain not provided [RCV001258548] Chr13:55143754..58453133 [GRCh37]
Chr13:13q14.3-21.1
uncertain significance
GRCh37/hg19 13q21.1-21.2(chr13:56995788-59674029)x3 copy number gain not provided [RCV001834281] Chr13:56995788..59674029 [GRCh37]
Chr13:13q21.1-21.2
uncertain significance
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1(chr13:58288521-58432447) copy number loss not specified [RCV002053062] Chr13:58288521..58432447 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-21.31(chr13:56897737-64074025)x1 copy number loss not provided [RCV002475781] Chr13:56897737..64074025 [GRCh37]
Chr13:13q21.1-21.31
uncertain significance
NM_001040429.3(PCDH17):c.2392T>C (p.Phe798Leu) single nucleotide variant not specified [RCV004153001] Chr13:57634938 [GRCh38]
Chr13:58209072 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2908C>A (p.Arg970Ser) single nucleotide variant not specified [RCV004136121] Chr13:57724722 [GRCh38]
Chr13:58298856 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2149A>G (p.Ile717Val) single nucleotide variant not specified [RCV004106276] Chr13:57634695 [GRCh38]
Chr13:58208829 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1136G>C (p.Arg379Pro) single nucleotide variant not specified [RCV004237700] Chr13:57633682 [GRCh38]
Chr13:58207816 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.408G>T (p.Gln136His) single nucleotide variant not specified [RCV004092640] Chr13:57632954 [GRCh38]
Chr13:58207088 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.94G>C (p.Gly32Arg) single nucleotide variant not specified [RCV004094604] Chr13:57632640 [GRCh38]
Chr13:58206774 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.217C>T (p.His73Tyr) single nucleotide variant not specified [RCV004125848] Chr13:57632763 [GRCh38]
Chr13:58206897 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1060G>A (p.Val354Ile) single nucleotide variant not specified [RCV004112254] Chr13:57633606 [GRCh38]
Chr13:58207740 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1054G>C (p.Gly352Arg) single nucleotide variant not specified [RCV004204073] Chr13:57633600 [GRCh38]
Chr13:58207734 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2965A>T (p.Thr989Ser) single nucleotide variant not specified [RCV004132468] Chr13:57724779 [GRCh38]
Chr13:58298913 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.185G>A (p.Gly62Asp) single nucleotide variant not specified [RCV004242945] Chr13:57632731 [GRCh38]
Chr13:58206865 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1750G>C (p.Val584Leu) single nucleotide variant not specified [RCV004113429] Chr13:57634296 [GRCh38]
Chr13:58208430 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.119G>T (p.Arg40Met) single nucleotide variant not specified [RCV004175836] Chr13:57632665 [GRCh38]
Chr13:58206799 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1348C>T (p.Pro450Ser) single nucleotide variant not specified [RCV004099337] Chr13:57633894 [GRCh38]
Chr13:58208028 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3375C>G (p.Asn1125Lys) single nucleotide variant not specified [RCV004116968] Chr13:57725189 [GRCh38]
Chr13:58299323 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2288A>G (p.Asn763Ser) single nucleotide variant not specified [RCV004229135] Chr13:57634834 [GRCh38]
Chr13:58208968 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.484G>A (p.Gly162Ser) single nucleotide variant not specified [RCV004130382] Chr13:57633030 [GRCh38]
Chr13:58207164 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2227C>G (p.Arg743Gly) single nucleotide variant not specified [RCV004166263] Chr13:57634773 [GRCh38]
Chr13:58208907 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2336C>T (p.Ala779Val) single nucleotide variant not specified [RCV004122494] Chr13:57634882 [GRCh38]
Chr13:58209016 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.565G>C (p.Gly189Arg) single nucleotide variant not specified [RCV004112817] Chr13:57633111 [GRCh38]
Chr13:58207245 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3167G>A (p.Gly1056Asp) single nucleotide variant not specified [RCV004221970] Chr13:57724981 [GRCh38]
Chr13:58299115 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.92C>T (p.Ala31Val) single nucleotide variant not specified [RCV004089175] Chr13:57632638 [GRCh38]
Chr13:58206772 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2282A>T (p.Lys761Met) single nucleotide variant not specified [RCV004091771] Chr13:57634828 [GRCh38]
Chr13:58208962 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.901G>A (p.Gly301Ser) single nucleotide variant not specified [RCV004285419] Chr13:57633447 [GRCh38]
Chr13:58207581 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2284A>G (p.Ile762Val) single nucleotide variant not specified [RCV004282831] Chr13:57634830 [GRCh38]
Chr13:58208964 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.631C>T (p.Leu211Phe) single nucleotide variant not specified [RCV004249542] Chr13:57633177 [GRCh38]
Chr13:58207311 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3136C>A (p.Pro1046Thr) single nucleotide variant not specified [RCV004338668] Chr13:57724950 [GRCh38]
Chr13:58299084 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2374G>T (p.Ala792Ser) single nucleotide variant not specified [RCV004359738] Chr13:57634920 [GRCh38]
Chr13:58209054 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.412G>C (p.Glu138Gln) single nucleotide variant not specified [RCV004360644] Chr13:57632958 [GRCh38]
Chr13:58207092 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.948G>A (p.Met316Ile) single nucleotide variant not specified [RCV004350162] Chr13:57633494 [GRCh38]
Chr13:58207628 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2049G>A (p.Ser683=) single nucleotide variant not provided [RCV003393329] Chr13:57634595 [GRCh38]
Chr13:58208729 [GRCh37]
Chr13:13q21.1
likely benign
GRCh37/hg19 13q21.1-21.32(chr13:57279797-65861199)x1 copy number loss not specified [RCV003987027] Chr13:57279797..65861199 [GRCh37]
Chr13:13q21.1-21.32
uncertain significance
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2
pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1 copy number loss not specified [RCV003987013] Chr13:56450978..93582180 [GRCh37]
Chr13:13q21.1-31.3
pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1
pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2
pathogenic
NM_001040429.3(PCDH17):c.943G>C (p.Gly315Arg) single nucleotide variant not provided [RCV004547145] Chr13:57633489 [GRCh38]
Chr13:58207623 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2
pathogenic
NM_001040429.3(PCDH17):c.154G>C (p.Glu52Gln) single nucleotide variant not specified [RCV004505039] Chr13:57632700 [GRCh38]
Chr13:58206834 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2500A>G (p.Thr834Ala) single nucleotide variant not specified [RCV004505043] Chr13:57635046 [GRCh38]
Chr13:58209180 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.515C>G (p.Thr172Arg) single nucleotide variant not specified [RCV004505048] Chr13:57633061 [GRCh38]
Chr13:58207195 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.683A>G (p.Gln228Arg) single nucleotide variant not specified [RCV004505050] Chr13:57633229 [GRCh38]
Chr13:58207363 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1435C>A (p.Leu479Ile) single nucleotide variant not specified [RCV004505038] Chr13:57633981 [GRCh38]
Chr13:58208115 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2377A>T (p.Thr793Ser) single nucleotide variant not specified [RCV004505042] Chr13:57634923 [GRCh38]
Chr13:58209057 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2596A>G (p.Met866Val) single nucleotide variant not specified [RCV004505044] Chr13:57666498 [GRCh38]
Chr13:58240632 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.667C>G (p.Arg223Gly) single nucleotide variant not specified [RCV004505049] Chr13:57633213 [GRCh38]
Chr13:58207347 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.961G>T (p.Val321Leu) single nucleotide variant not specified [RCV004505052] Chr13:57633507 [GRCh38]
Chr13:58207641 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1892A>T (p.Asn631Ile) single nucleotide variant not specified [RCV004505040] Chr13:57634438 [GRCh38]
Chr13:58208572 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1061T>C (p.Val354Ala) single nucleotide variant not specified [RCV004505036] Chr13:57633607 [GRCh38]
Chr13:58207741 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1311G>C (p.Glu437Asp) single nucleotide variant not specified [RCV004505037] Chr13:57633857 [GRCh38]
Chr13:58207991 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2213G>A (p.Arg738His) single nucleotide variant not specified [RCV004505041] Chr13:57634759 [GRCh38]
Chr13:58208893 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.475C>G (p.Pro159Ala) single nucleotide variant not specified [RCV004505045] Chr13:57633021 [GRCh38]
Chr13:58207155 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.494G>C (p.Gly165Ala) single nucleotide variant not specified [RCV004505047] Chr13:57633040 [GRCh38]
Chr13:58207174 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.687C>G (p.Ile229Met) single nucleotide variant not specified [RCV004505051] Chr13:57633233 [GRCh38]
Chr13:58207367 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1205G>C (p.Gly402Ala) single nucleotide variant not specified [RCV004664291] Chr13:57633751 [GRCh38]
Chr13:58207885 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3020A>T (p.Glu1007Val) single nucleotide variant not specified [RCV004664292] Chr13:57724834 [GRCh38]
Chr13:58298968 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.181T>C (p.Ser61Pro) single nucleotide variant not specified [RCV004664289] Chr13:57632727 [GRCh38]
Chr13:58206861 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2989A>C (p.Thr997Pro) single nucleotide variant not specified [RCV004653056] Chr13:57724803 [GRCh38]
Chr13:58298937 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2603G>T (p.Ser868Ile) single nucleotide variant not specified [RCV004653057] Chr13:57666505 [GRCh38]
Chr13:58240639 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.440C>T (p.Pro147Leu) single nucleotide variant not specified [RCV004653058] Chr13:57632986 [GRCh38]
Chr13:58207120 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2055C>G (p.Ser685Arg) single nucleotide variant not specified [RCV004664290] Chr13:57634601 [GRCh38]
Chr13:58208735 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2429G>T (p.Arg810Leu) single nucleotide variant not specified [RCV004664293] Chr13:57634975 [GRCh38]
Chr13:58209109 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3 copy number gain not provided [RCV004819310] Chr13:19436287..92292639 [GRCh37]
Chr13:13q11-31.3
pathogenic
NM_001040429.3(PCDH17):c.617A>G (p.Gln206Arg) single nucleotide variant not specified [RCV004836504] Chr13:57633163 [GRCh38]
Chr13:58207297 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.175A>C (p.Ser59Arg) single nucleotide variant not specified [RCV004836506] Chr13:57632721 [GRCh38]
Chr13:58206855 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2395G>C (p.Asp799His) single nucleotide variant not specified [RCV004836512] Chr13:57634941 [GRCh38]
Chr13:58209075 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q21.1-21.32(chr13:57775204-67639488)x3 copy number gain not provided [RCV004819586] Chr13:57775204..67639488 [GRCh37]
Chr13:13q21.1-21.32
uncertain significance
NM_001040429.3(PCDH17):c.2581G>A (p.Ala861Thr) single nucleotide variant not specified [RCV004836497] Chr13:57666483 [GRCh38]
Chr13:58240617 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.115G>A (p.Gly39Ser) single nucleotide variant not specified [RCV004836500] Chr13:57632661 [GRCh38]
Chr13:58206795 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.303G>C (p.Lys101Asn) single nucleotide variant not specified [RCV004836501] Chr13:57632849 [GRCh38]
Chr13:58206983 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.824A>G (p.Asn275Ser) single nucleotide variant not specified [RCV004836503] Chr13:57633370 [GRCh38]
Chr13:58207504 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.496C>A (p.Leu166Ile) single nucleotide variant not specified [RCV004836509] Chr13:57633042 [GRCh38]
Chr13:58207176 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3136C>T (p.Pro1046Ser) single nucleotide variant not specified [RCV004836511] Chr13:57724950 [GRCh38]
Chr13:58299084 [GRCh37]
Chr13:13q21.1
uncertain significance
GRCh37/hg19 13q14.2-21.31(chr13:50232243-65699459)x1 copy number loss not provided [RCV004819854] Chr13:50232243..65699459 [GRCh37]
Chr13:13q14.2-21.31
uncertain significance
NM_001040429.3(PCDH17):c.1714A>G (p.Thr572Ala) single nucleotide variant not specified [RCV004836507] Chr13:57634260 [GRCh38]
Chr13:58208394 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2240A>G (p.Tyr747Cys) single nucleotide variant not specified [RCV004836510] Chr13:57634786 [GRCh38]
Chr13:58208920 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.872G>C (p.Arg291Pro) single nucleotide variant not specified [RCV004836502] Chr13:57633418 [GRCh38]
Chr13:58207552 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2488G>A (p.Ala830Thr) single nucleotide variant not specified [RCV004836498] Chr13:57635034 [GRCh38]
Chr13:58209168 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3304G>C (p.Asp1102His) single nucleotide variant not specified [RCV004836499] Chr13:57725118 [GRCh38]
Chr13:58299252 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1345T>C (p.Ser449Pro) single nucleotide variant not specified [RCV004836505] Chr13:57633891 [GRCh38]
Chr13:58208025 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3040A>G (p.Asn1014Asp) single nucleotide variant not specified [RCV004836508] Chr13:57724854 [GRCh38]
Chr13:58298988 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.3403G>T (p.Ala1135Ser) single nucleotide variant not specified [RCV004848021] Chr13:57725217 [GRCh38]
Chr13:58299351 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.2375C>T (p.Ala792Val) single nucleotide variant not specified [RCV004848022] Chr13:57634921 [GRCh38]
Chr13:58209055 [GRCh37]
Chr13:13q21.1
uncertain significance
NM_001040429.3(PCDH17):c.1972G>A (p.Val658Met) single nucleotide variant not specified [RCV004848023] Chr13:57634518 [GRCh38]
Chr13:58208652 [GRCh37]
Chr13:13q21.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2074
Count of miRNA genes:928
Interacting mature miRNAs:1165
Transcripts:ENST00000377918, ENST00000484979
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406998306GWAS647282_Hintelligence QTL GWAS647282 (human)6e-08intelligence135771474657714747Human
597211449GWAS1307523_Hupper aerodigestive tract neoplasm QTL GWAS1307523 (human)0.000008upper aerodigestive tract neoplasm135767459857674599Human
597211291GWAS1307365_Hself reported educational attainment QTL GWAS1307365 (human)3e-10self reported educational attainment135769732757697328Human
597224636GWAS1320710_Hurate measurement, bone density QTL GWAS1320710 (human)1e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)135765148357651484Human
597076850GWAS1172924_Hintelligence QTL GWAS1172924 (human)2e-09intelligence135769208857692089Human
597185916GWAS1281990_Heducational attainment QTL GWAS1281990 (human)3e-12educational attainment135769732757697328Human
597048531GWAS1144605_HC-reactive protein measurement QTL GWAS1144605 (human)7e-12C-reactive protein measurementblood C-reactive protein level (CMO:0003160)135767866757678668Human
597144689GWAS1240763_Hbody mass index QTL GWAS1240763 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)135767785357677854Human
2289192BW359_HBody weight QTL 359 (human)0.0344Body fat amountpercent fat134998940475989404Human
597102364GWAS1198438_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS1198438 (human)1e-15schizophrenia, intelligence, self reported educational attainment135767866757678668Human
597028507GWAS1124581_Hbody mass index QTL GWAS1124581 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)135767866757678668Human
407086924GWAS735900_Hvisceral adipose tissue measurement QTL GWAS735900 (human)7e-10visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)135768353357683534Human
597185751GWAS1281825_Heducational attainment QTL GWAS1281825 (human)2e-13educational attainment135769248057692481Human
597074884GWAS1170958_Hintelligence QTL GWAS1170958 (human)1e-10intelligence135770223157702232Human
597074882GWAS1170956_Hintelligence QTL GWAS1170956 (human)4e-08intelligence135770439357704394Human
2292823PRSTS88_HProstate tumor susceptibility QTL 88 (human)Prostate tumor susceptibility134153205867532058Human
597074881GWAS1170955_Hintelligence QTL GWAS1170955 (human)4e-10intelligence135771474657714747Human
597083022GWAS1179096_Hbody mass index QTL GWAS1179096 (human)2e-11body mass indexbody mass index (BMI) (CMO:0000105)135767866757678668Human
597185154GWAS1281228_Heducational attainment QTL GWAS1281228 (human)4e-13educational attainment135766009257660093Human
1643298BW212_HBody weight QTL 212 (human)2.670.0002Body weightBMI134153205867532058Human
597091371GWAS1187445_Hintelligence QTL GWAS1187445 (human)0.000002intelligence135768303157683032Human
597056008GWAS1152082_Hreaction time measurement QTL GWAS1152082 (human)5e-08reaction time measurement135768915657689157Human

Markers in Region
D13S1303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,224,222 - 58,224,421UniSTSGRCh37
Build 361357,122,223 - 57,122,422RGDNCBI36
Celera1339,178,749 - 39,178,942RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,906,363 - 38,906,556UniSTS
Marshfield Genetic Map1347.19RGD
Marshfield Genetic Map1347.19UniSTS
Genethon Genetic Map1349.2UniSTS
TNG Radiation Hybrid Map1319770.0UniSTS
deCODE Assembly Map1356.48UniSTS
Whitehead-YAC Contig Map13 UniSTS
WI-18283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,299,872 - 58,300,021UniSTSGRCh37
Build 361357,197,873 - 57,198,022RGDNCBI36
Celera1339,254,393 - 39,254,542RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,982,016 - 38,982,165UniSTS
GeneMap99-GB4 RH Map13165.12UniSTS
Whitehead-RH Map13150.8UniSTS
RH44773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,301,378 - 58,301,492UniSTSGRCh37
Build 361357,199,379 - 57,199,493RGDNCBI36
Celera1339,255,899 - 39,256,013RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,983,522 - 38,983,636UniSTS
GeneMap99-GB4 RH Map13162.59UniSTS
NCBI RH Map13505.4UniSTS
SHGC-30612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,302,502 - 58,302,651UniSTSGRCh37
Build 361357,200,503 - 57,200,652RGDNCBI36
Celera1339,257,023 - 39,257,172RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,984,646 - 38,984,795UniSTS
TNG Radiation Hybrid Map1319830.0UniSTS
Stanford-G3 RH Map131601.0UniSTS
GeneMap99-GB4 RH Map13168.89UniSTS
Whitehead-RH Map13149.6UniSTS
NCBI RH Map13526.5UniSTS
GeneMap99-G3 RH Map131597.0UniSTS
PCDH17_1260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,298,875 - 58,299,742UniSTSGRCh37
Build 361357,196,876 - 57,197,743RGDNCBI36
Celera1339,253,395 - 39,254,263RGD
HuRef1338,981,018 - 38,981,886UniSTS
SHGC-56621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,215,235 - 58,215,424UniSTSGRCh37
Build 361357,113,236 - 57,113,425RGDNCBI36
Celera1339,169,768 - 39,169,957RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,897,383 - 38,897,572UniSTS
TNG Radiation Hybrid Map1319774.0UniSTS
G20769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,302,170 - 58,302,276UniSTSGRCh37
Build 361357,200,171 - 57,200,277RGDNCBI36
Celera1339,256,691 - 39,256,797RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,984,314 - 38,984,420UniSTS
A006F33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,302,170 - 58,302,276UniSTSGRCh37
Build 361357,200,171 - 57,200,277RGDNCBI36
Celera1339,256,691 - 39,256,797RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,984,314 - 38,984,420UniSTS
GeneMap99-GB4 RH Map13171.12UniSTS
NCBI RH Map13528.3UniSTS
SHGC-33151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,205,168 - 58,205,267UniSTSGRCh37
Build 361357,103,169 - 57,103,268RGDNCBI36
Celera1339,159,701 - 39,159,800RGD
Cytogenetic Map13q21.1UniSTS
HuRef1338,887,316 - 38,887,415UniSTS
Stanford-G3 RH Map131625.0UniSTS
GeneMap99-GB4 RH Map13165.64UniSTS
Whitehead-RH Map13152.2UniSTS
NCBI RH Map13541.0UniSTS
GeneMap99-G3 RH Map131621.0UniSTS
LOC144997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,301,265 - 58,301,368UniSTSGRCh37
Celera1339,255,786 - 39,255,889UniSTS
HuRef1338,983,409 - 38,983,512UniSTS
PCDH17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371358,208,948 - 58,209,134UniSTSGRCh37
Celera1339,163,481 - 39,163,667UniSTS
HuRef1338,891,096 - 38,891,282UniSTS


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 2327 2788 2226 4923 1708 2244 4 615 1137 454 2239 6381 5662 34 3716 1 817 1682 1521 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF029343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF511144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP286383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA458702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000377918   ⟹   ENSP00000367151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1357,631,744 - 57,729,311 (+)Ensembl
Ensembl Acc Id: ENST00000484979   ⟹   ENSP00000432899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1357,631,810 - 57,725,540 (+)Ensembl
Ensembl Acc Id: ENST00000612954   ⟹   ENSP00000481329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1357,634,383 - 57,725,293 (+)Ensembl
Ensembl Acc Id: ENST00000615375   ⟹   ENSP00000483215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1357,635,013 - 57,724,748 (+)Ensembl
RefSeq Acc Id: NM_001040429   ⟹   NP_001035519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381357,631,744 - 57,729,311 (+)NCBI
GRCh371358,204,238 - 58,303,445 (+)NCBI
Build 361357,103,790 - 57,201,066 (+)NCBI Archive
HuRef1338,887,937 - 38,985,207 (+)ENTREZGENE
CHM1_11358,173,338 - 58,270,626 (+)NCBI
T2T-CHM13v2.01356,848,042 - 56,945,624 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266357   ⟹   XP_005266414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381357,630,108 - 57,729,311 (+)NCBI
GRCh371358,204,238 - 58,303,445 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020547   ⟹   XP_016876036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381357,631,744 - 57,711,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430276   ⟹   XP_047286232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381357,630,108 - 57,729,311 (+)NCBI
RefSeq Acc Id: XM_054374466   ⟹   XP_054230441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01356,846,361 - 56,945,624 (+)NCBI
RefSeq Acc Id: XM_054374467   ⟹   XP_054230442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01356,846,361 - 56,945,624 (+)NCBI
RefSeq Acc Id: XM_054374468   ⟹   XP_054230443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01356,848,042 - 56,927,995 (+)NCBI
RefSeq Acc Id: NP_001035519   ⟸   NM_001040429
- Peptide Label: precursor
- UniProtKB: Q5VVW9 (UniProtKB/Swiss-Prot),   A8K1R5 (UniProtKB/Swiss-Prot),   Q5VVX0 (UniProtKB/Swiss-Prot),   O14917 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266414   ⟸   XM_005266357
- Peptide Label: isoform X1
- UniProtKB: Q5VVW9 (UniProtKB/Swiss-Prot),   A8K1R5 (UniProtKB/Swiss-Prot),   Q5VVX0 (UniProtKB/Swiss-Prot),   O14917 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016876036   ⟸   XM_017020547
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000481329   ⟸   ENST00000612954
Ensembl Acc Id: ENSP00000367151   ⟸   ENST00000377918
Ensembl Acc Id: ENSP00000483215   ⟸   ENST00000615375
Ensembl Acc Id: ENSP00000432899   ⟸   ENST00000484979
RefSeq Acc Id: XP_047286232   ⟸   XM_047430276
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230441   ⟸   XM_054374466
- Peptide Label: isoform X1
- UniProtKB: Q5VVW9 (UniProtKB/Swiss-Prot),   O14917 (UniProtKB/Swiss-Prot),   A8K1R5 (UniProtKB/Swiss-Prot),   Q5VVX0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054230442   ⟸   XM_054374467
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230443   ⟸   XM_054374468
- Peptide Label: isoform X3
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14917-F1-model_v2 AlphaFold O14917 1-1159 view protein structure

Promoters
RGD ID:6790997
Promoter ID:HG_KWN:17991
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000045139,   OTTHUMT00000045140,   UC010AEC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361357,106,081 - 57,106,581 (+)MPROMDB
RGD ID:6791013
Promoter ID:HG_KWN:17992
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC001VHR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361357,137,796 - 57,138,797 (+)MPROMDB
RGD ID:7226537
Promoter ID:EPDNEW_H19014
Type:initiation region
Name:PCDH17_2
Description:protocadherin 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19015  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381357,631,435 - 57,631,495EPDNEW
RGD ID:7226541
Promoter ID:EPDNEW_H19015
Type:initiation region
Name:PCDH17_1
Description:protocadherin 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19014  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381357,631,744 - 57,631,804EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14267 AgrOrtholog
COSMIC PCDH17 COSMIC
Ensembl Genes ENSG00000118946 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377918 ENTREZGENE
  ENST00000377918.8 UniProtKB/Swiss-Prot
  ENST00000484979.5 UniProtKB/Swiss-Prot
  ENST00000612954.4 UniProtKB/TrEMBL
  ENST00000615375.1 UniProtKB/TrEMBL
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118946 GTEx
HGNC ID HGNC:14267 ENTREZGENE
Human Proteome Map PCDH17 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_N UniProtKB/Swiss-Prot
  Protocadherin/Cadherin-CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27253 UniProtKB/Swiss-Prot
NCBI Gene 27253 ENTREZGENE
OMIM 611760 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24028:SF41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_2 UniProtKB/Swiss-Prot
PharmGKB PA33001 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXV2_HUMAN UniProtKB/TrEMBL
  A0A087X099_HUMAN UniProtKB/TrEMBL
  A8K1R5 ENTREZGENE
  O14917 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5VVW9 ENTREZGENE
  Q5VVX0 ENTREZGENE
UniProt Secondary A8K1R5 UniProtKB/Swiss-Prot
  Q5VVW9 UniProtKB/Swiss-Prot
  Q5VVX0 UniProtKB/Swiss-Prot