 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway Annotations |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
Save List to My RGD
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
{{ watchLinkText }}
Select categories you would like to watch. Updates to this gene will be send to {{ username }}
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsMolecular Pathway AnnotationsDisease Annotations
|
|
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology AnnotationsBiological Process
|
|
Cellular Component
|
|
Molecular Function
|
|
Molecular Pathway AnnotationsReferences - curated| 1. | Dumay-Odelot H, etal., Cell Cycle. 2010 Sep 15;9(18):3687-99. Epub 2010 Sep 1. |
| 2. | GOA_HUMAN data from the GO Consortium |
| 3. | Hu P, etal., Mol Cell Biol. 2002 Nov;22(22):8044-55. |
| 4. | Pipeline to import KEGG annotations from KEGG into RGD |
| 5. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 1403646 8125298 10521666 10819331 12477932 14702039 15489334 16344560 17643375 18029348 19214185 19615732 21873635 24107381 26186194 26344197 26496610 27780869 28514442 29117863 29728610 |
Genomics
Comparative Map Data| POLR3E (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polr3e (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polr3e (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polr3e (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLR3E (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLR3E (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polr3e (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLR3E (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| STS-W72446 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| RH80971 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| POLR3E_8065 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| D16S2974 |
|
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. |
||||||||
Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001258033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001258034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001258035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001258036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_018119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_047581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011545892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011545893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017023443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA282721 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB040885 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC009034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC092338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC241556 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK001371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK023160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK023231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK026645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK130661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK222671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK222789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK293300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK296813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK300735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL048627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AW205673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AX876608 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY092085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC000285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB047155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001258033 ⟹ NP_001244962 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
AAGAGGAAACGCTGGGGCCGGCCCGCTCCCCCCCACGTGTCCGCCGGAGTTTCTCCACCAGCAAhide sequence |
| RefSeq Acc Id: | NM_001258034 ⟹ NP_001244963 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
AAGAGGAAACGCTGGGGCCGGCCCGCTCCCCCCCACGTGTCCGCCGGAGTTTCTCCACCAGCAAhide sequence |
| RefSeq Acc Id: | NM_001258035 ⟹ NP_001244964 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
AAGAGGAAACGCTGGGGCCGGCCCGCTCCCCCCCACGTGTCCGCCGGAGTTTCTCCACCAGCAAhide sequence |
| RefSeq Acc Id: | NM_001258036 ⟹ NP_001244965 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
AAGAGGAAACGCTGGGGCCGGCCCGCTCCCCCCCACGTGTCCGCCGGAGTTTCTCCACCAGCAAhide sequence |
| RefSeq Acc Id: | NM_018119 ⟹ NP_060589 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
AAGAGGAAACGCTGGGGCCGGCCCGCTCCCCCCCACGTGTCCGCCGGAGTTTCTCCACCAGCAAhide sequence |
| RefSeq Acc Id: | NR_047581 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | NON-CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
AAGAGGAAACGCTGGGGCCGGCCCGCTCCCCCCCACGTGTCCGCCGGAGTTTCTCCACCAGCAAhide sequence |
| RefSeq Acc Id: | XM_011545892 ⟹ XP_011544194 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ACGTGTCCGCCGGAGTTTCTCCACCAGCAACATGGCCGCCGCCTGAGAGGAGAGCCGGGCCGCChide sequence |
| RefSeq Acc Id: | XM_011545893 ⟹ XP_011544195 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ACGTGTCCGCCGGAGTTTCTCCACCAGCAACATGGCCGCCGCCTGAGAGGAGAGCCGGGCCGCChide sequence |
| RefSeq Acc Id: | XM_017023443 ⟹ XP_016878932 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ACGTGTCCGCCGGAGTTTCTCCACCAGCAACATGGCCGCCGCCTGAGAGGAGAGCCGGGCCGCChide sequence |
Protein Sequences| Protein RefSeqs | NP_001244962 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001244963 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001244964 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001244965 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_060589 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011544194 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011544195 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016878932 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH00285 | (Get FASTA) | NCBI Sequence Viewer |
| AAM18215 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA91655 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA95976 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB14437 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB14481 | (Get FASTA) | NCBI Sequence Viewer | |
| BAD96509 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG56821 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG59386 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG62408 | (Get FASTA) | NCBI Sequence Viewer | |
| CAE89351 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50605 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50606 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50607 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW50608 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9NVU0 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_060589 ⟸ NM_018119 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q9NVU0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MANEEDDPVVQEIDVYLAKSLAEKLYLFQYPVRPASMTYDDIPHLSAKIKPKQQKVELEMAIDThide sequence |
| RefSeq Acc Id: | NP_001244962 ⟸ NM_001258033 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9NVU0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MANEEDDPVVQEIDVYLAKSLAEKLYLFQYPVRPASMTYDDIPHLSAKIKPKQQKVELEMAIDThide sequence |
| RefSeq Acc Id: | NP_001244965 ⟸ NM_001258036 |
| - Peptide Label: | isoform 5 |
| - UniProtKB: | Q9NVU0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MANEEDDPVVQEIDVYLAKSLAEKLYLFQYPVRPASMTYDDIPHLSAKIKPKQQKVELEMAIDThide sequence |
| RefSeq Acc Id: | NP_001244963 ⟸ NM_001258034 |
| - Peptide Label: | isoform 4 |
| - UniProtKB: | Q9NVU0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MANEEDDPVVQEIKPKQQKVELEMAIDTLNPNYCRSKGEQIALNVDGACADETSTYSSKLMDKQhide sequence |
| RefSeq Acc Id: | NP_001244964 ⟸ NM_001258035 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q9NVU0 (UniProtKB/Swiss-Prot), A0A0C4DH01 (UniProtKB/TrEMBL) |
| - Sequence: |
MTYDDIPHLSAKIKPKQQKVELEMAIDTLNPNYCRSKGEQIALNVDGACADETSTYSSKLMDKQhide sequence |
| RefSeq Acc Id: | XP_011544194 ⟸ XM_011545892 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MANEEDDPVVQEIDVYLAKSLAEKLYLFQYPVRPASMTYDDIPHLSAKIKPKQQKVELEMAIDThide sequence |
| RefSeq Acc Id: | XP_011544195 ⟸ XM_011545893 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MANEEDDPVVQEIDVYLAKSLAEKLYLFQYPVRPASMTYDDIPHLSAKIKPKQQKVELEMAIDThide sequence |
| RefSeq Acc Id: | XP_016878932 ⟸ XM_017023443 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MPLHSTGELHLTPLHGILQLRPSFSYLDKADAKHREREAANEAGDSSQDEAEDDVKQITVRFSRhide sequence |
Promoters| RGD ID: | 6793383 | |||||||||
| Promoter ID: | HG_KWN:23275 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | OTTHUMT00000211590, UC002DKJ.1, UC002DKL.1, UC002DKM.1 | |||||||||
| Position: |
|
| RGD ID: | 6850906 | |||||||||
| Promoter ID: | EP73249 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HS_FLJ10509 | |||||||||
| Description: | RNA polymerase III 80 kDa subunit RPC5. | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | |||||||||
| Position: |
|
| RGD ID: | 7231585 | |||||||||
| Promoter ID: | EPDNEW_H21538 | |||||||||
| Type: | initiation region | |||||||||
| Name: | POLR3E_1 | |||||||||
| Description: | RNA polymerase III subunit E | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7231587 | |||||||||
| Promoter ID: | EPDNEW_H21539 | |||||||||
| Type: | single initiation site | |||||||||
| Name: | POLR3E_2 | |||||||||
| Description: | RNA polymerase III subunit E | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1 | copy number loss | Global developmental delay [RCV000050457]|See cases [RCV000050457] | Chr16:21825971..22396751 [GRCh38] Chr16:21837292..22408072 [GRCh37] Chr16:21744793..22315573 [NCBI36] Chr16:16p12.2 |
benign|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3 | copy number gain | Global developmental delay [RCV000050396]|See cases [RCV000050396] | Chr16:21826171..22358401 [GRCh38] Chr16:21837492..22369722 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050397]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050397]|See cases [RCV000050397] | Chr16:21826171..22396610 [GRCh38] Chr16:21837492..22407931 [GRCh37] Chr16:21744993..22315432 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1 | copy number loss | Gonadal dysgenesis [RCV000050398]|Global developmental delay [RCV000050399]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050400]|See cases [RCV000050398] | Chr16:21826171..22396610 [GRCh38] Chr16:21837492..22407931 [GRCh37] Chr16:21744993..22315432 [NCBI36] Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p12.2(chr16:21642883-22396751)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051266]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051266]|See cases [RCV000051266] | Chr16:21642883..22396751 [GRCh38] Chr16:21654204..22408072 [GRCh37] Chr16:21561705..22315573 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21794978-22396610)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051267]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051267]|See cases [RCV000051267] | Chr16:21794978..22396610 [GRCh38] Chr16:21806299..22407931 [GRCh37] Chr16:21713800..22315432 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21826171-22634444)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051268]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051268]|See cases [RCV000051268] | Chr16:21826171..22634444 [GRCh38] Chr16:21837492..22645765 [GRCh37] Chr16:21744993..22553266 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21940058-22396610)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051269]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051269]|See cases [RCV000051269] | Chr16:21940058..22396610 [GRCh38] Chr16:21951379..22407931 [GRCh37] Chr16:21858880..22315432 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21973700-22396610)x1 | copy number loss | Spina bifida occulta [RCV000051287]|See cases [RCV000051287] | Chr16:21973700..22396610 [GRCh38] Chr16:21985021..22407931 [GRCh37] Chr16:21892522..22315432 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 | copy number gain | Nonsyndromic microcephaly [RCV000051828]|See cases [RCV000051828] | Chr16:14954894..28306843 [GRCh38] Chr16:15048751..28318164 [GRCh37] Chr16:14956252..28225665 [NCBI36] Chr16:16p13.11-12.1 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|See cases [RCV000051829] | Chr16:21463739..29249579 [GRCh38] Chr16:21475060..29260900 [GRCh37] Chr16:21382561..29168401 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051842]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051842]|See cases [RCV000051842] | Chr16:21602183..29314373 [GRCh38] Chr16:21613504..29325694 [GRCh37] Chr16:21521005..29233195 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052519]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052519]|See cases [RCV000052519] | Chr16:21600992..28323344 [GRCh38] Chr16:21612313..28334665 [GRCh37] Chr16:21519814..28242166 [NCBI36] Chr16:16p12.2-12.1 |
pathogenic |
| GRCh38/hg38 16p12.2(chr16:21299678-22396751)x3 | copy number gain | Language impairment [RCV000053116]|See cases [RCV000053116] | Chr16:21299678..22396751 [GRCh38] Chr16:21310999..22408072 [GRCh37] Chr16:21218500..22315573 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21463739-22634444)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053117]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053117]|See cases [RCV000053117] | Chr16:21463739..22634444 [GRCh38] Chr16:21475060..22645765 [GRCh37] Chr16:21382561..22553266 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| NM_018119.3(POLR3E):c.210C>T (p.Cys70=) | single nucleotide variant | Malignant melanoma [RCV000071036] | Chr16:22308969 [GRCh38] Chr16:22320290 [GRCh37] Chr16:22227791 [NCBI36] Chr16:16p12.2 |
not provided |
| GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 | copy number gain | See cases [RCV000133809] | Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3 | copy number gain | See cases [RCV000050396] | Chr16:21826171..22358401 [GRCh38] Chr16:21837492..22369722 [GRCh37] Chr16:21744993..22277223 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21948629-22396630)x1 | copy number loss | See cases [RCV000134017] | Chr16:21948629..22396630 [GRCh38] Chr16:21959950..22407951 [GRCh37] Chr16:21867451..22315452 [NCBI36] Chr16:16p12.2 |
uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p12.2(chr16:22055774-22634444)x3 | copy number gain | See cases [RCV000135757] | Chr16:22055774..22634444 [GRCh38] Chr16:22067095..22645765 [GRCh37] Chr16:21974596..22553266 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21826171-22358401)x1 | copy number loss | See cases [RCV000135416] | Chr16:21826171..22358401 [GRCh38] Chr16:21837492..22369722 [GRCh37] Chr16:21744993..22277223 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21827098-22396630)x1 | copy number loss | See cases [RCV000135984] | Chr16:21827098..22396630 [GRCh38] Chr16:21838419..22407951 [GRCh37] Chr16:21745920..22315452 [NCBI36] Chr16:16p12.2 |
conflicting data from submitters |
| GRCh38/hg38 16p12.2(chr16:21717046-22634444)x3 | copy number gain | See cases [RCV000137742] | Chr16:21717046..22634444 [GRCh38] Chr16:21728367..22645765 [GRCh37] Chr16:21635868..22553266 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21826171-22436900)x3 | copy number gain | See cases [RCV000137796] | Chr16:21826171..22436900 [GRCh38] Chr16:21837492..22448221 [GRCh37] Chr16:21744993..22355722 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21786451-22547506)x3 | copy number gain | See cases [RCV000138712] | Chr16:21786451..22547506 [GRCh38] Chr16:21797772..22558827 [GRCh37] Chr16:21705273..22466328 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21790568-22699293)x1 | copy number loss | See cases [RCV000139921] | Chr16:21790568..22699293 [GRCh38] Chr16:21801889..22710614 [GRCh37] Chr16:21709390..22618115 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 | copy number gain | See cases [RCV000140235] | Chr16:21350622..29202837 [GRCh38] Chr16:21361943..29214158 [GRCh37] Chr16:21269444..29121659 [NCBI36] Chr16:16p12.2-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.2(chr16:21940058-22436900)x1 | copy number loss | See cases [RCV000140693] | Chr16:21940058..22436900 [GRCh38] Chr16:21951379..22448221 [GRCh37] Chr16:21858880..22355722 [NCBI36] Chr16:16p12.2 |
conflicting data from submitters |
| GRCh38/hg38 16p12.2(chr16:21750083-22420036)x1 | copy number loss | See cases [RCV000141959] | Chr16:21750083..22420036 [GRCh38] Chr16:21761404..22431357 [GRCh37] Chr16:21668905..22338858 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21919927-22430686)x1 | copy number loss | See cases [RCV000141860] | Chr16:21919927..22430686 [GRCh38] Chr16:21931248..22442007 [GRCh37] Chr16:21838749..22349508 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21750083-22430686)x1 | copy number loss | See cases [RCV000142326] | Chr16:21750083..22430686 [GRCh38] Chr16:21761404..22442007 [GRCh37] Chr16:21668905..22349508 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21790568-22420036)x1 | copy number loss | See cases [RCV000142076] | Chr16:21790568..22420036 [GRCh38] Chr16:21801889..22431357 [GRCh37] Chr16:21709390..22338858 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21790568-22430686)x1 | copy number loss | See cases [RCV000143407] | Chr16:21790568..22430686 [GRCh38] Chr16:21801889..22442007 [GRCh37] Chr16:21709390..22349508 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21935201-22430686)x1 | copy number loss | See cases [RCV000143283] | Chr16:21935201..22430686 [GRCh38] Chr16:21946522..22442007 [GRCh37] Chr16:21854023..22349508 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1 | copy number loss | See cases [RCV000143465] | Chr16:21919927..22420036 [GRCh38] Chr16:21931248..22431357 [GRCh37] Chr16:21838749..22338858 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1 | copy number loss | See cases [RCV000148150] | Chr16:21826171..22396610 [GRCh38] Chr16:21837492..22407931 [GRCh37] Chr16:21744993..22315432 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1 | copy number loss | See cases [RCV000148152] | Chr16:21825971..22396751 [GRCh38] Chr16:21837292..22408072 [GRCh37] Chr16:21744793..22315573 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3 | copy number gain | See cases [RCV000148139] | Chr16:21826171..22396610 [GRCh38] Chr16:21837492..22407931 [GRCh37] Chr16:21744993..22315432 [NCBI36] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21968752-22407931)x1 | copy number loss | See cases [RCV000240111] | Chr16:21968752..22407931 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 | copy number gain | See cases [RCV000203445] | Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 | copy number gain | Ductal breast carcinoma [RCV000207226] | Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 | copy number gain | Ductal breast carcinoma [RCV000207053] | Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21771016-22409463)x1 | copy number loss | See cases [RCV000207445] | Chr16:21771016..22409463 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21976691-22407931)x1 | copy number loss | See cases [RCV000240052] | Chr16:21976691..22407931 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21806299-22407931)x1 | copy number loss | See cases [RCV000239891] | Chr16:21806299..22407931 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21968752-22407931)x3 | copy number gain | See cases [RCV000240025] | Chr16:21968752..22407931 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21817619-22407931)x1 | copy number loss | See cases [RCV000240390] | Chr16:21817619..22407931 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 | copy number gain | See cases [RCV000449403] | Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21761404-22431357)x1 | copy number loss | See cases [RCV000449301] | Chr16:21761404..22431357 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21801889-22710614)x1 | copy number loss | See cases [RCV000446260] | Chr16:21801889..22710614 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1 | copy number loss | See cases [RCV000445861] | Chr16:21801889..22431357 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21852931-22431357)x3 | copy number gain | See cases [RCV000445767] | Chr16:21852931..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_21939023)_(22424261_?)del | deletion | Schizophrenia [RCV000416649] | Chr16:21939023..22424261 [GRCh38] Chr16:21950344..22435582 [GRCh37] Chr16:21857845..22343083 [NCBI36] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3 | copy number gain | See cases [RCV000448291] | Chr16:21801889..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_21939023)_(22434144_?)dup | duplication | Schizophrenia [RCV000416817] | Chr16:21939023..22434144 [GRCh38] Chr16:21950344..22445465 [GRCh37] Chr16:21857845..22352966 [NCBI36] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21986752-22407872)x1 | copy number loss | See cases [RCV000448074] | Chr16:21986752..22407872 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21841455-22441367)x3 | copy number gain | See cases [RCV000510489] | Chr16:21841455..22441367 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21761405-22431357)x1 | copy number loss | See cases [RCV000510163] | Chr16:21761405..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 | copy number gain | See cases [RCV000511622] | Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21931248-22431357)x3 | copy number gain | See cases [RCV000511685] | Chr16:21931248..22431357 [GRCh37] Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.2(chr16:21801488-22441367)x3 | copy number gain | See cases [RCV000511821] | Chr16:21801488..22441367 [GRCh37] Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3 | copy number gain | See cases [RCV000511874] | Chr16:21801889..22431357 [GRCh37] Chr16:16p12.2 |
conflicting data from submitters |
| GRCh37/hg19 16p12.2(chr16:21801889-22441367)x3 | copy number gain | See cases [RCV000511089] | Chr16:21801889..22441367 [GRCh37] Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 | copy number loss | See cases [RCV000511271] | Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21801890-22442007)x1 | copy number loss | See cases [RCV000510848] | Chr16:21801890..22442007 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 | copy number gain | See cases [RCV000511360] | Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21787031-22431357)x3 | copy number gain | See cases [RCV000512259] | Chr16:21787031..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 | copy number gain | See cases [RCV000512428] | Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 | copy number gain | See cases [RCV000512478] | Chr16:21379628..29351826 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21841455-22431357)x1 | copy number loss | See cases [RCV000512595] | Chr16:21841455..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| Single allele | deletion | not provided [RCV000677933] | Chr16:21957432..22396611 [GRCh38] Chr16:21968752..22407931 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21801889-22389376)x3 | copy number gain | not provided [RCV000683787] | Chr16:21801889..22389376 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1 | copy number loss | not provided [RCV000683788] | Chr16:21801889..22431357 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3 | copy number gain | not provided [RCV000683789] | Chr16:21801889..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 | copy number loss | not provided [RCV000683786] | Chr16:21379628..29379768 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21801889-22442007)x1 | copy number loss | not provided [RCV000683790] | Chr16:21801889..22442007 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21817921-22710614)x1 | copy number loss | not provided [RCV000683791] | Chr16:21817921..22710614 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21841455-22710614)x1 | copy number loss | not provided [RCV000683792] | Chr16:21841455..22710614 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21931247-22710614)x1 | copy number loss | not provided [RCV000683793] | Chr16:21931247..22710614 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21946044-22431357)x3 | copy number gain | not provided [RCV000683794] | Chr16:21946044..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21948756-22442007)x1 | copy number loss | not provided [RCV000683795] | Chr16:21948756..22442007 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| Single allele | deletion | Schizophrenia [RCV000754178] | Chr16:21928119..22428075 [GRCh38] Chr16:16p12.2 |
likely pathogenic |
| Single allele | duplication | Schizophrenia [RCV000754180] | Chr16:21928119..22435412 [GRCh38] Chr16:16p12.2 |
likely pathogenic |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754179] | Chr16:21928119..22428075 [GRCh38] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21949122-22421321)x1 | copy number loss | not provided [RCV000739091] | Chr16:21949122..22421321 [GRCh37] Chr16:16p12.2 |
benign |
| GRCh37/hg19 16p12.2(chr16:21949122-22443623)x1 | copy number loss | not provided [RCV000739092] | Chr16:21949122..22443623 [GRCh37] Chr16:16p12.2 |
benign |
| GRCh37/hg19 16p12.2(chr16:21949122-22449883)x1 | copy number loss | not provided [RCV000739093] | Chr16:21949122..22449883 [GRCh37] Chr16:16p12.2 |
benign |
| GRCh37/hg19 16p12.2(chr16:21951379-22407931)x3 | copy number gain | not provided [RCV000762766] | Chr16:21951379..22407931 [GRCh37] Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.2(chr16:21769324-22435811)x1 | copy number loss | not provided [RCV000751623] | Chr16:21769324..22435811 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21769324-22552780)x1 | copy number loss | not provided [RCV000751624] | Chr16:21769324..22552780 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21973828-22361172) | copy number loss | Chromosome 16p12.1 deletion syndrome, 520-kb [RCV000767762] | Chr16:21973828..22361172 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21976691-22386881) | copy number loss | Chromosome 16p12.1 deletion syndrome, 520-kb [RCV000767607] | Chr16:21976691..22386881 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21973828-22361172) | copy number loss | Chromosome 16p12.1 deletion syndrome, 520-kb [RCV000767685] | Chr16:21973828..22361172 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21943463-22702769) | copy number loss | Chromosome 16p12.1 deletion syndrome, 520-kb [RCV000767585] | Chr16:21943463..22702769 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2(chr16:21964083-22386845) | copy number loss | Chromosome 16p12.1 deletion syndrome, 520-kb [RCV000767694] | Chr16:21964083..22386845 [GRCh37] Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:21785197-22431357)x3 | copy number gain | not provided [RCV000846556] | Chr16:21785197..22431357 [GRCh37] Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:21841353-22442007)x3 | copy number gain | not provided [RCV000849792] | Chr16:21841353..22442007 [GRCh37] Chr16:16p12.2 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:30347 | AgrOrtholog |
| COSMIC | POLR3E | COSMIC |
| Ensembl Genes | ENSG00000058600 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSG00000284282 | UniProtKB/Swiss-Prot | |
| Ensembl Protein | ENSP00000299853 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000352140 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000399254 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000454225 | UniProtKB/TrEMBL | |
| ENSP00000454507 | UniProtKB/TrEMBL | |
| ENSP00000454875 | UniProtKB/TrEMBL | |
| ENSP00000456454 | UniProtKB/TrEMBL | |
| ENSP00000456526 | UniProtKB/TrEMBL | |
| ENSP00000456718 | UniProtKB/TrEMBL | |
| ENSP00000456771 | UniProtKB/TrEMBL | |
| ENSP00000456967 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000484648 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000492263 | UniProtKB/Swiss-Prot | |
| ENSP00000492534 | UniProtKB/Swiss-Prot | |
| ENSP00000492586 | UniProtKB/Swiss-Prot | |
| ENSP00000492639 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000299853 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000359210 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000418581 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000561494 | UniProtKB/TrEMBL | |
| ENST00000563024 | UniProtKB/TrEMBL | |
| ENST00000564209 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000564750 | UniProtKB/TrEMBL | |
| ENST00000564883 | UniProtKB/TrEMBL | |
| ENST00000565358 | UniProtKB/TrEMBL | |
| ENST00000565551 | UniProtKB/TrEMBL | |
| ENST00000569757 | UniProtKB/TrEMBL | |
| ENST00000615879 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000638476 | UniProtKB/Swiss-Prot | |
| ENST00000638525 | UniProtKB/Swiss-Prot | |
| ENST00000639149 | UniProtKB/Swiss-Prot | |
| ENST00000640588 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000058600 | GTEx |
| ENSG00000284282 | GTEx | |
| HGNC ID | HGNC:30347 | ENTREZGENE |
| Human Proteome Map | POLR3E | Human Proteome Map |
| InterPro | RNA_pol_III_Rpc5 | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:55718 | UniProtKB/Swiss-Prot |
| NCBI Gene | 55718 | ENTREZGENE |
| OMIM | 617815 | OMIM |
| PANTHER | PTHR12069 | UniProtKB/Swiss-Prot |
| Pfam | Sin_N | UniProtKB/Swiss-Prot |
| PharmGKB | PA134964025 | PharmGKB |
| UniGene | Hs.460298 | ENTREZGENE |
| UniProt | A0A0C4DH01 | ENTREZGENE, UniProtKB/TrEMBL |
| H3BM46_HUMAN | UniProtKB/TrEMBL | |
| H3BMR4_HUMAN | UniProtKB/TrEMBL | |
| H3BNJ0_HUMAN | UniProtKB/TrEMBL | |
| H3BRY1_HUMAN | UniProtKB/TrEMBL | |
| H3BS41_HUMAN | UniProtKB/TrEMBL | |
| H3BSI5_HUMAN | UniProtKB/TrEMBL | |
| H3BSM3_HUMAN | UniProtKB/TrEMBL | |
| Q9NVU0 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | B4DL24 | UniProtKB/Swiss-Prot |
| B4DUP6 | UniProtKB/Swiss-Prot | |
| H3BT11 | UniProtKB/Swiss-Prot | |
| Q9BWF7 | UniProtKB/Swiss-Prot | |
| Q9H8W8 | UniProtKB/Swiss-Prot | |
| Q9H907 | UniProtKB/Swiss-Prot | |
| Q9P276 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-07-19 | POLR3E | RNA polymerase III subunit E | polymerase (RNA) III subunit E | Symbol and/or name change | 5135510 | APPROVED | |
| 2016-03-07 | POLR3E | polymerase (RNA) III subunit E | polymerase (RNA) III (DNA directed) polypeptide E (80kD) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on POLR3E | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1317654 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
