 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Analyze GeneStrainQTL List |
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GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease AnnotationsGene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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References - curated| 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 |
References - uncurated| PubMed | 10716726 10817752 10835267 11082270 12477932 14702039 15057823 15342556 15489334 15604093 15905963 16344560 16713569 17464717 17672918 17978184 18353903 18718692 19449025 19945174 20180417 20200074 21213369 21873635 22207556 22589738 22926751 23684785 24366498 24567353 26386721 26404644 26683656 26700620 27351130 27643535 28070120 28514442 28688232 29566279 29676528 29991130 30165032 30213786 |
Genomics
Comparative Map Data| PCDH17 (Homo sapiens - human) |
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| Pcdh17 (Mus musculus - house mouse) |
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| Pcdh17 (Rattus norvegicus - Norway rat) |
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| Pcdh17 (Chinchilla lanigera - long-tailed chinchilla) |
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| PCDH17 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PCDH17 (Canis lupus familiaris - dog) |
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| Pcdh17 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PCDH17 (Sus scrofa - pig) |
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Position Markers| D13S1303 |
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| WI-18283 |
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| RH44773 |
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| SHGC-30612 |
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| PCDH17_1260 |
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| SHGC-56621 |
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| G20769 |
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| A006F33 |
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| SHGC-33151 |
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| LOC144997 |
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| PCDH17 |
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miRNA Target Status
Predicted Target Of
| 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. |
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Expression
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 | |
| 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 | |
| DA458702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001040429 ⟹ NP_001035519 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATTTCGGGGGAGAGCCTTTTCCGAGGAAGAGAGGGAGGAGCCTGGTGGGGAGAGGAAACTACAhide sequence |
| RefSeq Acc Id: | XM_005266357 ⟹ XP_005266414 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGTCAGTCAGCAAGAGACGCTGGGGAGAGAGCAGGGATCGCGAGCCCGGCGGATGCGGCAGCGGhide sequence |
| RefSeq Acc Id: | XM_005266358 ⟹ XP_005266415 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGTCAGTCAGCAAGAGACGCTGGGGAGAGAGCAGGGATCGCGAGCCCGGCGGATGCGGCAGCGGhide sequence |
| RefSeq Acc Id: | XM_017020547 ⟹ XP_016876036 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGTCAGTCAGCAAGAGACGCTGGGGAGAGAGCAGGGATCGCGAGCCCGGCGGATGCGGCAGCGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001035519 | (Get FASTA) | NCBI Sequence Viewer |
| XP_005266414 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266415 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876036 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAB84144 | (Get FASTA) | NCBI Sequence Viewer |
| AAH28165 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF82669 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW52059 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW52060 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW52061 | (Get FASTA) | NCBI Sequence Viewer | |
| O14917 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001035519 ⟸ NM_001040429 |
| - Peptide Label: | precursor |
| - UniProtKB: | O14917 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYhide sequence |
| RefSeq Acc Id: | XP_005266415 ⟸ XM_005266358 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYhide sequence |
| RefSeq Acc Id: | XP_005266414 ⟸ XM_005266357 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | O14917 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYhide sequence |
| RefSeq Acc Id: | XP_016876036 ⟸ XM_017020547 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYhide sequence |
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: |
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| 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: |
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| 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/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| 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/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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Clinical Variants| 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_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 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 |
| 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 | 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 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 |
| 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 |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:14267 | AgrOrtholog |
| COSMIC | PCDH17 | COSMIC |
| Ensembl Genes | ENSG00000118946 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000367151 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000432899 | UniProtKB/Swiss-Prot | |
| ENSP00000481329 | UniProtKB/TrEMBL | |
| ENSP00000483215 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000377918 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000484979 | UniProtKB/Swiss-Prot | |
| ENST00000612954 | UniProtKB/TrEMBL | |
| ENST00000615375 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000118946 | GTEx |
| HGNC ID | HGNC:14267 | ENTREZGENE |
| Human Proteome Map | PCDH17 | Human Proteome Map |
| InterPro | Cadherin-like_dom | UniProtKB/Swiss-Prot |
| Cadherin-like_sf | UniProtKB/Swiss-Prot | |
| Cadherin_CS | UniProtKB/Swiss-Prot | |
| Cadherin_N | UniProtKB/Swiss-Prot | |
| Protocadherin-17 | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:27253 | UniProtKB/Swiss-Prot |
| NCBI Gene | 27253 | ENTREZGENE |
| OMIM | 611760 | OMIM |
| PANTHER | PTHR24028:SF41 | UniProtKB/Swiss-Prot |
| Pfam | Cadherin | UniProtKB/Swiss-Prot |
| Cadherin_2 | UniProtKB/Swiss-Prot | |
| PharmGKB | PA33001 | 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.106511 | ENTREZGENE |
| UniProt | A0A087WXV2_HUMAN | UniProtKB/TrEMBL |
| A0A087X099_HUMAN | UniProtKB/TrEMBL | |
| O14917 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | A8K1R5 | UniProtKB/Swiss-Prot |
| Q5VVW9 | UniProtKB/Swiss-Prot | |
| Q5VVX0 | UniProtKB/Swiss-Prot |
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| More on PCDH17 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1312379 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
