 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Analyze GeneStrainQTL List |
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Gene Ontology AnnotationsDisease Annotations
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Gene-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 - curatedReferences - uncurated| PubMed | 8889548 12107411 12477932 14702039 15489334 16344560 16712791 17207965 19862010 21697133 21873635 25542898 26186194 28514442 29721980 |
Genomics
Comparative Map Data| RTBDN (Homo sapiens - human) |
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| Rtbdn (Mus musculus - house mouse) |
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| Rtbdn (Rattus norvegicus - Norway rat) |
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| Rtbdn (Chinchilla lanigera - long-tailed chinchilla) |
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| RTBDN (Pan paniscus - bonobo/pygmy chimpanzee) |
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| RTBDN (Canis lupus familiaris - dog) |
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| Rtbdn (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| RTBDN (Sus scrofa - pig) |
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Position Markers| D19S914 |
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| RH99147 |
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| G42185 |
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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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Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001080997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001270440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_031429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005260089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005260090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011528343 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011528344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011528345 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017027343 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017027344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024451733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB593122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC020934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK093672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY028917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC005063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG471112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM688006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM688127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM708463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BQ639040 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU689643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CB140693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB106146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EL946853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001080997 ⟹ NP_001074466 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAGGGAGCGAGAGAGGGAGGAGGGAGGCCGCATAGAAGAGAGGGAGGAATTACTGAACAGGAGhide sequence |
| RefSeq Acc Id: | NM_001270440 ⟹ NP_001257369 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGAAACCCGACGGCGCGGACCCAACCTGGCTGCTGCAGTACTTGCTCTAACTTTGCCGCAGCTGhide sequence |
| RefSeq Acc Id: | NM_001270441 ⟹ NP_001257370 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTAGTGGAGGAGGTGGAATGAAGAGTGAGAAAGCTGTCTAGGTGCCTGTCCAATTAGGGCAGTAhide sequence |
| RefSeq Acc Id: | NM_001270442 ⟹ NP_001257371 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTAGTGGAGGAGGTGGAATGAAGAGTGAGAAAGCTGTCTAGGTGCCTGTCCAATTAGGGCAGTAhide sequence |
| RefSeq Acc Id: | NM_001270443 ⟹ NP_001257372 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCCAGTTTCCTGGACTGGATCCTGAGGTGTCTTAGCGGCCTCTAGACCCCAATCCAGCCAACAGhide sequence |
| RefSeq Acc Id: | NM_001270444 ⟹ NP_001257373 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCCAGTTTCCTGGACTGGATCCTGAGGTGTCTTAGCGGCCTCTAGACCCCAATCCAGCCAACAGhide sequence |
| RefSeq Acc Id: | NM_001270445 ⟹ NP_001257374 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCCAGTTTCCTGGACTGGATCCTGAGGTGTCTTAGCGGCCTCTAGACCCCAATCCAGCCAACAGhide sequence |
| RefSeq Acc Id: | NM_031429 ⟹ NP_113617 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGAAACCCGACGGCGCGGACCCAACCTGGCTGCTGCAGTACTTGCTCTAACTTTGCCGCAGCTGhide sequence |
| RefSeq Acc Id: | XM_005260089 ⟹ XP_005260146 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGAAACCCGACGGCGCGGACCCAACCTGGCTGCTGCAGTACTTGCTCTAACTTTGCCGCAGCTGhide sequence |
| RefSeq Acc Id: | XM_005260090 ⟹ XP_005260147 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GTCCCCGCCTTCCCCACACTCCACAGCGATCCTCAGTGTCCCACTCCGTGCAGTGGACGCACGGhide sequence |
| RefSeq Acc Id: | XM_011528343 ⟹ XP_011526645 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TCCGGCGGCGGATGAGGCCCGAATCGTCCATGGCGGCAGCGGCGGCGACTTCGGCCCGGGGAGGhide sequence |
| RefSeq Acc Id: | XM_011528344 ⟹ XP_011526646 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CACGGTCAGGATTAAGGAGCCAGGCCAGGCCGTCTGTATTTATAGGAGCGATTAGCTGGTAGTThide sequence |
| RefSeq Acc Id: | XM_011528345 ⟹ XP_011526647 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CAGCAGCCAGTTTCCTGGACTGGATCCTGAGGTGTCTTAGCGGCCTCTAGACCCCAATCCAGCChide sequence |
| RefSeq Acc Id: | XM_017027343 ⟹ XP_016882832 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGAAACCCGACGGCGCGGACCCAACCTGGCTGCTGCAGTACTTGCTCTAACTTTGCCGCAGCTGhide sequence |
| RefSeq Acc Id: | XM_017027344 ⟹ XP_016882833 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGAAACCCGACGGCGCGGACCCAACCTGGCTGCTGCAGTACTTGCTCTAACTTTGCCGCAGCTGhide sequence |
| RefSeq Acc Id: | XM_024451733 ⟹ XP_024307501 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TCCCCGCCTTCCCCACACTCCACAGCGATCCTCAGTGTCCCACTCCGTGCAGTGGACGCACGGChide sequence |
Protein Sequences| Protein RefSeqs | NP_001074466 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001257369 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257370 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257371 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257372 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257373 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257374 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_113617 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005260146 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005260147 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011526645 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011526646 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011526647 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016882832 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016882833 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307501 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH05063 | (Get FASTA) | NCBI Sequence Viewer |
| AAK26169 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC04217 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ84062 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84314 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84315 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84316 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9BSG5 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_113617 ⟸ NM_031429 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9BSG5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDEALETQLKTSRGRFSATESLPTLELLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRhide sequence |
| RefSeq Acc Id: | NP_001074466 ⟸ NM_001080997 |
| - Peptide Label: | isoform 1 precursor |
| - UniProtKB: | Q9BSG5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHLAGPCCPSEMhide sequence |
| RefSeq Acc Id: | NP_001257369 ⟸ NM_001270440 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | K7ESG0 (UniProtKB/TrEMBL), Q8N210 (UniProtKB/TrEMBL) |
| - Sequence: |
MDEALETQLKTSRGRFSATESLPTLELLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRhide sequence |
| RefSeq Acc Id: | NP_001257371 ⟸ NM_001270442 |
| - Peptide Label: | isoform 5 precursor |
| - UniProtKB: | Q9BSG5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MARQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHLAGPhide sequence |
| RefSeq Acc Id: | NP_001257370 ⟸ NM_001270441 |
| - Peptide Label: | isoform 1 precursor |
| - Sequence: |
MARQLLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHhide sequence |
| RefSeq Acc Id: | NP_001257373 ⟸ NM_001270444 |
| - Peptide Label: | isoform 1 precursor |
| - UniProtKB: | Q9BSG5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHLAGPCCPSEMhide sequence |
| RefSeq Acc Id: | NP_001257374 ⟸ NM_001270445 |
| - Peptide Label: | isoform 6 precursor |
| - UniProtKB: | Q9BSG5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHLAEMDTTETShide sequence |
| RefSeq Acc Id: | NP_001257372 ⟸ NM_001270443 |
| - Peptide Label: | isoform 1 precursor |
| - UniProtKB: | Q9BSG5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHLAGPCCPSEMhide sequence |
| RefSeq Acc Id: | XP_005260146 ⟸ XM_005260089 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MDEALETQLKTSRGRFSATESLPTLELLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRhide sequence |
| RefSeq Acc Id: | XP_005260147 ⟸ XM_005260090 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MARQLLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHhide sequence |
| RefSeq Acc Id: | XP_011526645 ⟸ XM_011528343 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MRPESSMAAAAATSARGGRRELLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARhide sequence |
| RefSeq Acc Id: | XP_011526646 ⟸ XM_011528344 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MFTQLLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHhide sequence |
| RefSeq Acc Id: | XP_011526647 ⟸ XM_011528345 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHLAGDPQASVPhide sequence |
| RefSeq Acc Id: | XP_016882833 ⟸ XM_017027344 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MDEALETQLKTSRGRFSATESLPTLELLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRhide sequence |
| RefSeq Acc Id: | XP_016882832 ⟸ XM_017027343 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MDEALETQLKTSRGRFSATESLPTLELLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRhide sequence |
| RefSeq Acc Id: | XP_024307501 ⟸ XM_024451733 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MARQLLSQVDMDCRVHMRPIGLTWVLQLTLAWILLEACGGSRPLQARSQQHHGLAADLGKGKLHhide sequence |
Promoters| RGD ID: | 7238729 | |||||||||
| Promoter ID: | EPDNEW_H25110 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RTBDN_4 | |||||||||
| Description: | retbindin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7238731 | |||||||||
| Promoter ID: | EPDNEW_H25111 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RTBDN_3 | |||||||||
| Description: | retbindin | |||||||||
| 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: | 7238735 | |||||||||
| Promoter ID: | EPDNEW_H25113 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RTBDN_2 | |||||||||
| Description: | retbindin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7238737 | |||||||||
| Promoter ID: | EPDNEW_H25114 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RTBDN_1 | |||||||||
| Description: | retbindin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|See cases [RCV000052908] | Chr19:8831147..13331227 [GRCh38] Chr19:8941823..13442041 [GRCh37] Chr19:8802823..13303041 [NCBI36] Chr19:19p13.2-13.13 |
likely pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|See cases [RCV000052909] | Chr19:10315258..14048994 [GRCh38] Chr19:10425934..14159806 [GRCh37] Chr19:10286934..14020806 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|See cases [RCV000052910] | Chr19:12132052..14751798 [GRCh38] Chr19:12242867..14862610 [GRCh37] Chr19:12103867..14723610 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|See cases [RCV000054144] | Chr19:12813597..13119698 [GRCh38] Chr19:12924411..13230512 [GRCh37] Chr19:12785411..13091512 [NCBI36] Chr19:19p13.13 |
uncertain significance |
| GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] | Chr19:11227942..14532135 [GRCh38] Chr19:11338618..14642947 [GRCh37] Chr19:11199618..14503947 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 | copy number loss | Episodic vomiting [RCV000053945]|See cases [RCV000053945] | Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
| GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 | copy number loss | See cases [RCV000135937] | Chr19:12580427..14742673 [GRCh38] Chr19:12691241..14853485 [GRCh37] Chr19:12552241..14714485 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic|likely pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 | copy number loss | See cases [RCV000136909] | Chr19:11525163..14155021 [GRCh38] Chr19:11635978..14265833 [GRCh37] Chr19:11496978..14126833 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 | copy number loss | See cases [RCV000141568] | Chr19:10319474..13777860 [GRCh38] Chr19:10430150..13888674 [GRCh37] Chr19:10291150..13749674 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 | copy number loss | See cases [RCV000449161] | Chr19:12204632..13497073 [GRCh37] Chr19:19p13.2 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) | copy number gain | See cases [RCV000446985] | Chr19:9678768..14853426 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 | copy number loss | See cases [RCV000511130] | Chr19:12574343..14726197 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 | copy number gain | See cases [RCV000511013] | Chr19:11608072..14543046 [GRCh37] Chr19:19p13.2-13.12 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 | copy number loss | not provided [RCV000846538] | Chr19:12354642..13424014 [GRCh37] Chr19:19p13.2 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:30310 | AgrOrtholog |
| COSMIC | RTBDN | COSMIC |
| Ensembl Genes | ENSG00000132026 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000326253 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000376925 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000416375 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000464869 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000465796 | UniProtKB/TrEMBL | |
| ENSP00000466382 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000466765 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000466805 | UniProtKB/TrEMBL | |
| ENSP00000466855 | UniProtKB/TrEMBL | |
| ENSP00000467888 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000468552 | UniProtKB/TrEMBL | |
| ENSP00000468697 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000468769 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000322912 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000393233 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000458671 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000585384 | UniProtKB/TrEMBL | |
| ENST00000586969 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000587549 | UniProtKB/TrEMBL | |
| ENST00000589272 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000589567 | UniProtKB/TrEMBL | |
| ENST00000589681 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000589808 | UniProtKB/TrEMBL | |
| ENST00000590404 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000591512 | UniProtKB/TrEMBL | |
| ENST00000592204 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000132026 | GTEx |
| HGNC ID | HGNC:30310 | ENTREZGENE |
| Human Proteome Map | RTBDN | Human Proteome Map |
| InterPro | Folate_rcpt | UniProtKB/Swiss-Prot |
| Folate_rcpt-like | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:83546 | UniProtKB/Swiss-Prot |
| NCBI Gene | 83546 | ENTREZGENE |
| OMIM | 609553 | OMIM |
| PANTHER | PTHR10517 | UniProtKB/Swiss-Prot |
| Pfam | Folate_rec | UniProtKB/Swiss-Prot |
| PharmGKB | PA144596387 | PharmGKB |
| UniGene | Hs.21162 | ENTREZGENE |
| UniProt | K7EIS2_HUMAN | UniProtKB/TrEMBL |
| K7EKV3_HUMAN | UniProtKB/TrEMBL | |
| K7EM70_HUMAN | UniProtKB/TrEMBL | |
| K7EN64_HUMAN | UniProtKB/TrEMBL | |
| K7ENA4_HUMAN | UniProtKB/TrEMBL | |
| K7EQL9_HUMAN | UniProtKB/TrEMBL | |
| K7ES48_HUMAN | UniProtKB/TrEMBL | |
| K7ESG0 | ENTREZGENE, UniProtKB/TrEMBL | |
| K7ESL8_HUMAN | UniProtKB/TrEMBL | |
| Q8N210 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9BSG5 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | F1T0I8 | UniProtKB/Swiss-Prot |
| Q9BWT5 | UniProtKB/Swiss-Prot |
 |
| More on RTBDN | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1606213 |
| Created: | 2007-04-29 |
| Species: | Homo sapiens |
| Last Modified: | 2019-09-12 |
| Status: | ACTIVE |
