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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3,3',5,5'-tetrabromobisphenol A | decreases expression | ISO | RGD:1314838 | 6480464 | tetrabromobisphenol A results in decreased expression of PCDH20 mRNA | CTD | PMID:25172293 | 6-propyl-2-thiouracil | decreases expression | ISO | RGD:1306297 | 6480464 | Propylthiouracil results in decreased expression of PCDH20 mRNA | CTD | PMID:24780913 | 8-bromo-3',5'-cyclic AMP | decreases expression | EXP | | 6480464 | 8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of PCDH20 mRNA | CTD | PMID:22079614 | all-trans-retinoic acid | increases expression | EXP | | 6480464 | Tretinoin results in increased expression of PCDH20 mRNA | CTD | PMID:21934132, PMID:23724009 | antirheumatic drug | increases expression | EXP | | 6480464 | Antirheumatic Agents results in increased expression of PCDH20 mRNA | CTD | PMID:24449571 | arsenous acid | decreases expression | EXP | | 6480464 | Arsenic Trioxide results in decreased expression of PCDH20 mRNA | CTD | PMID:26705709 | bisphenol A | multiple interactions | ISO | RGD:1306297 | 6480464 | [bisphenol A co-treated with Testosterone] results in increased expression of PCDH20 mRNA | CTD | PMID:26496021 | bisphenol A | increases expression | ISO | RGD:1306297 | 6480464 | bisphenol A results in increased expression of PCDH20 mRNA | CTD | PMID:31129395 | bisphenol A | decreases expression | ISO | RGD:1306297 | 6480464 | bisphenol A results in decreased expression of PCDH20 mRNA | CTD | PMID:25181051 | bisphenol F | decreases expression | ISO | RGD:1314838 | 6480464 | bisphenol F results in decreased expression of PCDH20 mRNA | CTD | PMID:30951980 | buta-1,3-diene | increases expression | ISO | RGD:1314838 | 6480464 | 1, 3-butadiene results in increased expression of PCDH20 mRNA | CTD | PMID:29038090 | cyclosporin A | decreases expression | EXP | | 6480464 | Cyclosporine results in decreased expression of PCDH20 mRNA | CTD | PMID:20106945 | cytarabine | decreases expression | EXP | | 6480464 | Cytarabine results in decreased expression of PCDH20 mRNA | CTD | PMID:21198554 | DDT | decreases expression | ISO | RGD:1306297 | 6480464 | DDT results in decreased expression of PCDH20 mRNA | CTD | PMID:30207508 | diarsenic trioxide | decreases expression | EXP | | 6480464 | Arsenic Trioxide results in decreased expression of PCDH20 mRNA | CTD | PMID:26705709 | diuron | decreases expression | ISO | RGD:1306297 | 6480464 | Diuron results in decreased expression of PCDH20 mRNA | CTD | PMID:25152437 | dorsomorphin | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ... | CTD | PMID:27188386 | doxorubicin | decreases expression | EXP | | 6480464 | Doxorubicin results in decreased expression of PCDH20 mRNA | CTD | PMID:29803840 | endosulfan | decreases expression | ISO | RGD:1306297 | 6480464 | Endosulfan results in decreased expression of PCDH20 mRNA | CTD | PMID:29391264 | entinostat | increases expression | EXP | | 6480464 | entinostat results in increased expression of PCDH20 mRNA | CTD | PMID:26272509 | entinostat | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PCDH20 mRNA | CTD | PMID:27188386 | glycidol | decreases expression | ISO | RGD:1306297 | 6480464 | glycidol results in decreased expression of PCDH20 mRNA | CTD | PMID:24915197 | medroxyprogesterone acetate | decreases expression | EXP | | 6480464 | Medroxyprogesterone Acetate results in decreased expression of PCDH20 mRNA | CTD | PMID:20843944 | mercury dibromide | increases expression | EXP | | 6480464 | mercuric bromide results in increased expression of PCDH20 mRNA | CTD | PMID:26272509 | mercury dibromide | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PCDH20 mRNA | CTD | PMID:27188386 | methylmercury chloride | decreases expression | EXP | | 6480464 | methylmercuric chloride results in decreased expression of PCDH20 mRNA | CTD | PMID:23179753 | N-methyl-4-phenylpyridinium | decreases expression | EXP | | 6480464 | 1-Methyl-4-phenylpyridinium results in decreased expression of PCDH20 mRNA | CTD | PMID:24810058 | nickel atom | decreases expression | EXP | | 6480464 | Nickel results in decreased expression of PCDH20 mRNA | CTD | PMID:25583101 | nitrofen | decreases expression | ISO | RGD:1306297 | 6480464 | nitrofen results in decreased expression of PCDH20 mRNA | CTD | PMID:26720608 | panobinostat | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PCDH20 mRNA | CTD | PMID:27188386 | panobinostat | increases expression | EXP | | 6480464 | panobinostat results in increased expression of PCDH20 mRNA | CTD | PMID:26272509 | phenylmercury acetate | increases expression | EXP | | 6480464 | Phenylmercuric Acetate results in increased expression of PCDH20 mRNA | CTD | PMID:26272509 | phenylmercury acetate | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PCDH20 mRNA | CTD | PMID:27188386 | pirinixic acid | multiple interactions | ISO | RGD:1314838 | 6480464 | [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PCDH20 mRNA | CTD | PMID:19710929 | rotenone | decreases expression | EXP | | 6480464 | Rotenone results in decreased expression of PCDH20 mRNA | CTD | PMID:29955902 | SB 431542 | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ... | CTD | PMID:27188386 | testosterone | multiple interactions | ISO | RGD:1306297 | 6480464 | [bisphenol A co-treated with Testosterone] results in increased expression of PCDH20 mRNA | CTD | PMID:26496021 | trichostatin A | increases expression | EXP | | 6480464 | trichostatin A results in increased expression of PCDH20 mRNA | CTD | PMID:24935251 | triclosan | decreases expression | EXP | | 6480464 | Triclosan results in decreased expression of PCDH20 mRNA | CTD | PMID:30510588 | valproic acid | affects expression | ISO | RGD:1314838 | 6480464 | Valproic Acid affects the expression of PCDH20 mRNA | CTD | PMID:17963808 | valproic acid | affects expression | EXP | | 6480464 | Valproic Acid affects the expression of PCDH20 mRNA | CTD | PMID:25979313 | valproic acid | increases expression | EXP | | 6480464 | Valproic Acid results in increased expression of PCDH20 mRNA | CTD | PMID:19101580 more ... | valproic acid | multiple interactions | EXP | | 6480464 | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1, 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PCDH20 mRNA | CTD | PMID:27188386 | zoledronic acid | decreases expression | EXP | | 6480464 | zoledronic acid results in decreased expression of PCDH20 mRNA | CTD | PMID:24714768 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 8012384 8889549 10716726 10817752 10835267 11082270 12477932 14702039 15489334 20834067 21873635 21875946 21907864 22359512 22681889 23212062 24910204 25736877 26186194 26188009 27935871 28514442 |
PCDH20 (Homo sapiens - human) |
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Pcdh20 (Mus musculus - house mouse) |
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Pcdh20 (Rattus norvegicus - Norway rat) |
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Pcdh20 (Chinchilla lanigera - long-tailed chinchilla) |
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PCDH20 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PCDH20 (Canis lupus familiaris - dog) |
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Pcdh20 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PCDH20 (Sus scrofa - pig) |
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PCDH20_1029 |
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1172 |
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STS-N34280 |
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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. |
RefSeq Transcripts | NM_022843 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AA040057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF169693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK094680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL162575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL592490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL833830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z60483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_022843 ⟹ NP_073754 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
TTTATTTTAATTCTCCCTCTCTTGCTAGCAACCTGTGGACTTGGCATCTGACTGGTGCGGCAAGhide sequence |
Protein RefSeqs | NP_073754 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAF89690 | (Get FASTA) | NCBI Sequence Viewer |
AAH27907 | (Get FASTA) | NCBI Sequence Viewer | |
BAB15265 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82613 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37177 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52909 | (Get FASTA) | NCBI Sequence Viewer | |
CAD38690 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52085 | (Get FASTA) | NCBI Sequence Viewer | |
Q8N6Y1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_073754 ⟸ NM_022843 |
- Peptide Label: | precursor |
- UniProtKB: | Q8N6Y1 (UniProtKB/Swiss-Prot), B3KSZ7 (UniProtKB/TrEMBL) |
- Sequence: |
MRGRGNARSSQALGVSWCPATWHPRLDMGRLHRPRSSTSYRNLPHLFLFFLFVGPFSCLGSYSRhide sequence |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | Scoliosis [RCV000050293]|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 | Omphalocele [RCV000050891]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|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 | Premature Birth [RCV000053723]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|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 | Polydactyly [RCV000053762]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]|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 | Nonsyndromic microcephaly [RCV000053767]|See cases [RCV000053767] | Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34 |
pathogenic |
NM_022843.3(PCDH20):c.841G>A (p.Glu281Lys) | single nucleotide variant | Malignant melanoma [RCV000070399] | Chr13:61413258 [GRCh38] Chr13:61987391 [GRCh37] Chr13:60885392 [NCBI36] Chr13:13q21.2 |
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 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 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 13q21.2-31.1(chr13:60536344-84553188)x1 | copy number loss | See cases [RCV000134951] | Chr13:60536344..84553188 [GRCh38] Chr13:61110478..85127323 [GRCh37] Chr13:60008479..84025324 [NCBI36] Chr13:13q21.2-31.1 |
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 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 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 13q21.2-34(chr13:61424168-115107733)x3 | copy number gain | See cases [RCV000449118] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
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 13q21.2-31.1(chr13:61686543-83302092)x1 | copy number loss | See cases [RCV000448229] | Chr13:61686543..83302092 [GRCh37] Chr13:13q21.2-31.1 |
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 |
GRCh37/hg19 13q21.2-21.31(chr13:61660181-63785757)x3 | copy number gain | See cases [RCV000512283] | Chr13:61660181..63785757 [GRCh37] Chr13:13q21.2-21.31 |
conflicting data from submitters |
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 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 | 13q partial monosomy 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 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 |
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 13q21.1-21.32(chr13:59424409-65723208) | copy number gain | not provided [RCV000767750] | Chr13:59424409..65723208 [GRCh37] Chr13:13q21.1-21.32 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 | copy number gain | not provided [RCV000848025] | Chr13:61775567..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:14257 | AgrOrtholog |
COSMIC | PCDH20 | COSMIC |
Ensembl Genes | ENSG00000280165 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000387250 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000409204 | ENTREZGENE, UniProtKB/Swiss-Prot |
GTEx | ENSG00000280165 | GTEx |
HGNC ID | HGNC:14257 | ENTREZGENE |
Human Proteome Map | PCDH20 | Human Proteome Map |
InterPro | Cadherin-like_dom | UniProtKB/Swiss-Prot |
Cadherin-like_sf | UniProtKB/Swiss-Prot | |
Cadherin_CS | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:64881 | UniProtKB/Swiss-Prot |
NCBI Gene | 64881 | ENTREZGENE |
OMIM | 614449 | OMIM |
Pfam | Cadherin | UniProtKB/Swiss-Prot |
PharmGKB | PA33004 | PharmGKB |
PRINTS | CADHERIN | UniProtKB/Swiss-Prot |
PROSITE | CADHERIN_1 | UniProtKB/Swiss-Prot |
CADHERIN_2 | UniProtKB/Swiss-Prot | |
SMART | SM00112 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF49313 | UniProtKB/Swiss-Prot |
UniGene | Hs.391781 | ENTREZGENE |
UniProt | B3KSZ7 | ENTREZGENE, UniProtKB/TrEMBL |
PCD20_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | A8K1K9 | UniProtKB/Swiss-Prot |
B1AQU2 | UniProtKB/Swiss-Prot | |
Q8NDN4 | UniProtKB/Swiss-Prot | |
Q9NRT9 | UniProtKB/Swiss-Prot |
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More on PCDH20 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1314837 |
Created: | 2005-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.