 Gene-Chemical Interaction 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) |
Disease Annotations
|
|
Gene-Chemical Interaction Annotations
|
|
References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for gene-chemical interactions |
| 3. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
References - uncuratedGenomics
Comparative Map Data| TTC16 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ttc16 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ttc16 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ttc16 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TTC16 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TTC16 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ttc16 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TTC16 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D11S3430 |
|
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_001317037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_144965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006716970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006716971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518295 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_002956761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AK057342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK074105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK128011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK294862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK302422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK302737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL162426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC031281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC032411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001317037 ⟹ NP_001303966 | ||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
CTGGTGATGGTGCCTAGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGThide sequence |
| RefSeq Acc Id: | NM_144965 ⟹ NP_659402 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
CTGGTGATGGTGCCTAGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGThide sequence |
| RefSeq Acc Id: | XM_005251733 ⟹ XP_005251790 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_005251734 ⟹ XP_005251791 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_006716970 ⟹ XP_006717033 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_006716971 ⟹ XP_006717034 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518283 ⟹ XP_011516585 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518284 ⟹ XP_011516586 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CTGGTGATGGTGCCTAGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGThide sequence |
| RefSeq Acc Id: | XM_011518285 ⟹ XP_011516587 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518288 ⟹ XP_011516590 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CTGGTGATGGTGCCTAGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGThide sequence |
| RefSeq Acc Id: | XM_011518289 ⟹ XP_011516591 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGCCTCATGACAGATTCGGACGAhide sequence |
| RefSeq Acc Id: | XM_011518290 ⟹ XP_011516592 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CTGGTGATGGTGCCTAGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGThide sequence |
| RefSeq Acc Id: | XM_011518291 ⟹ XP_011516593 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518292 ⟹ XP_011516594 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CTGGTGATGGTGCCTAGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGThide sequence |
| RefSeq Acc Id: | XM_011518293 ⟹ XP_011516595 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518294 ⟹ XP_011516596 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518295 ⟹ XP_011516597 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518297 ⟹ XP_011516599 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XM_011518298 ⟹ XP_011516600 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XR_001746193 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XR_002956761 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
| RefSeq Acc Id: | XR_929722 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCAACGTCAGGGCCAGGGCCGCGAGGTAGTTGGCAGAGGCCTCGGGGTCCTCCTGGAAGGGGChide sequence |
Protein Sequences| Protein RefSeqs | NP_001303966 | (Get FASTA) | NCBI Sequence Viewer |
| NP_659402 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005251790 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005251791 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006717033 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006717034 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516585 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516586 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516587 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516590 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516591 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516592 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516593 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516594 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516595 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516596 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516597 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516599 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516600 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH31281 | (Get FASTA) | NCBI Sequence Viewer |
| BAB71437 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB84931 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC87231 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG57966 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG63726 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG63954 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW87687 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW87688 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW87689 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8NEE8 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_659402 ⟸ NM_144965 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q8NEE8 (UniProtKB/Swiss-Prot), B4DH05 (UniProtKB/TrEMBL) |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_005251791 ⟸ XM_005251734 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MLPLPMHGLSPGPQAASGLPHAHHQRAEAGHHQRRCLHLPGQTLQLSPEAPPLLPGPAQRLAVEhide sequence |
| RefSeq Acc Id: | XP_005251790 ⟸ XM_005251733 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MACLLALKQHQACLTLITNELKQDTTNADVYIFRARLYNFLQKPHLCYRDLHSALLLNPKHPQAhide sequence |
| RefSeq Acc Id: | XP_006717033 ⟸ XM_006716970 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MLPLPMHGLSPGPQAASGLPHAHHQRAEAGHHQRRCLHLPGQTLQLSPEAPPLLPGPAQRLAVEhide sequence |
| RefSeq Acc Id: | XP_006717034 ⟸ XM_006716971 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MLPLPMHGLSPGPQAASGLPHAHHQRAEAGHHQRRCLHLPGQTLQLSPEAPPLLPGPAQRLAVEhide sequence |
| RefSeq Acc Id: | XP_011516594 ⟸ XM_011518292 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MLPLPMHGLSPGPQAASGLPHAHHQRAEAGHHQRRCLHLPGQTLQLSPEAPPLLPGPAQRLAVEhide sequence |
| RefSeq Acc Id: | XP_011516586 ⟸ XM_011518284 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516590 ⟸ XM_011518288 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516592 ⟸ XM_011518290 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MLPLPMHGLSPGPQAASGLPHAHHQRAEAGHHQRRCLHLPGQTLQLSPEAPPLLPGPAQRLAVEhide sequence |
| RefSeq Acc Id: | XP_011516585 ⟸ XM_011518283 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516587 ⟸ XM_011518285 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516595 ⟸ XM_011518293 |
| - Peptide Label: | isoform X9 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516597 ⟸ XM_011518295 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516596 ⟸ XM_011518294 |
| - Peptide Label: | isoform X10 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516599 ⟸ XM_011518297 |
| - Peptide Label: | isoform X12 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516600 ⟸ XM_011518298 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
| RefSeq Acc Id: | XP_011516593 ⟸ XM_011518291 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MLPLPMHGLSPGPQAASGLPHAHHQRAEAGHHQRRCLHLPGQTLQLSPEAPPLLPGPAQRLAVEhide sequence |
| RefSeq Acc Id: | XP_011516591 ⟸ XM_011518289 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MLPLPMHGLSPGPQAASGLPHAHHQRAEAGHHQRRCLHLPGQTLQLSPEAPPLLPGPAQRLAVEhide sequence |
| RefSeq Acc Id: | NP_001303966 ⟸ NM_001317037 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q8NEE8 (UniProtKB/Swiss-Prot), B4DH05 (UniProtKB/TrEMBL), B4DZ42 (UniProtKB/TrEMBL) |
| - Sequence: |
MTDSDEDALKVDQGPSRDIPKPWVIPAPKGILQHIFGTSHVFQSICDVKPKVTGLTVPLKVREYhide sequence |
Promoters| RGD ID: | 7216193 | |||||||||
| Promoter ID: | EPDNEW_H13843 | |||||||||
| Type: | initiation region | |||||||||
| Name: | TTC16_1 | |||||||||
| Description: | tetratricopeptide repeat domain 16 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6807699 | |||||||||
| Promoter ID: | HG_KWN:65034 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3 | |||||||||
| Transcripts: | ENST00000393748, UC004BRR.1 | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1 | copy number loss | Autism [RCV000050860]|See cases [RCV000050860] | Chr9:126081595..127781685 [GRCh38] Chr9:128843874..130543964 [GRCh37] Chr9:127883695..129583785 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 | copy number loss | Hepatomegaly [RCV000052923]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052924]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052924]|See cases [RCV000052923] | Chr9:125993583..129682375 [GRCh38] Chr9:128755862..132444654 [GRCh37] Chr9:127795683..131484475 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 | copy number loss | See cases [RCV000137787] | Chr9:125055865..128637946 [GRCh38] Chr9:127818144..131400225 [GRCh37] Chr9:126857965..130440046 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 | copy number loss | See cases [RCV000447376] | Chr9:129079208..130851795 [GRCh37] Chr9:9q33.3-34.11 |
pathogenic |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 | copy number loss | See cases [RCV000445837] | Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NC_000009.11:g.(?_130374663)_(131329276_?)del | deletion | Early infantile epileptic encephalopathy [RCV000819894] | Chr9:127612384..128566997 [GRCh38] Chr9:130374663..131329276 [GRCh37] Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 | copy number loss | not provided [RCV000748671] | Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12 |
pathogenic |
| GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 | copy number loss | not provided [RCV000748677] | Chr9:129522693..131410039 [GRCh37] Chr9:9q33.3-34.11 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:130335766-130517907) | copy number loss | Early infantile epileptic encephalopathy 4 [RCV000767646] | Chr9:130335766..130517907 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_144965.3(TTC16):c.356G>A (p.Arg119Gln) | single nucleotide variant | Premature ovarian insufficiency [RCV000766152] | Chr9:127717702 [GRCh38] Chr9:130479981 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| NC_000009.11:g.(?_130216797)_(130953151_?)dup | duplication | Congenital disorder of glycosylation type 1u [RCV000821291] | Chr9:127454518..128190872 [GRCh38] Chr9:130216797..130953151 [GRCh37] Chr9:9q33.3-34.11 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:26536 | AgrOrtholog |
| COSMIC | TTC16 | COSMIC |
| Ensembl Genes | ENSG00000167094 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000362386 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENST00000373289 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000167094 | GTEx |
| HGNC ID | HGNC:26536 | ENTREZGENE |
| Human Proteome Map | TTC16 | Human Proteome Map |
| InterPro | TPR-contain_dom | UniProtKB/Swiss-Prot |
| TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot | |
| TPR_1 | UniProtKB/Swiss-Prot | |
| TPR_repeat | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:158248 | UniProtKB/Swiss-Prot |
| NCBI Gene | 158248 | ENTREZGENE |
| Pfam | TPR_1 | UniProtKB/Swiss-Prot |
| PharmGKB | PA134871808 | PharmGKB |
| PROSITE | TPR | UniProtKB/Swiss-Prot |
| TPR_REGION | UniProtKB/Swiss-Prot | |
| SMART | TPR | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot |
| UniGene | Hs.642748 | ENTREZGENE |
| UniProt | B4DH05 | ENTREZGENE, UniProtKB/TrEMBL |
| B4DZ42 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q8NEE8 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | B4DYG4 | UniProtKB/Swiss-Prot |
| B5ME24 | UniProtKB/Swiss-Prot | |
| Q5JU66 | UniProtKB/Swiss-Prot | |
| Q96M72 | UniProtKB/Swiss-Prot |
 |
| More on TTC16 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1321657 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
