 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Disease Annotations
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Gene-Chemical Interaction Annotations
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References - curated| 1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 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| CCDC171 (Homo sapiens - human) |
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| Ccdc171 (Mus musculus - house mouse) |
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| Ccdc171 (Rattus norvegicus - Norway rat) |
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| Ccdc171 (Chinchilla lanigera - long-tailed chinchilla) |
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| CCDC171 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CCDC171 (Canis lupus familiaris - dog) |
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| LOC101967725 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CCDC171 (Sus scrofa - pig) |
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Position Markers| SHGC-14223 |
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| SHGC-18062 |
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| RH103766 |
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| RH103985 |
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| RH118639 |
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| SHGC-104806 |
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| STS-N25982 |
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| WI-16839 |
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| STS-N22831 |
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miRNA Target Status
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NG_052634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001348002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001355547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_173550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF440401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AI243499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK094506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK096586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK128581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK308284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL160053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL359877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL513423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL592153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL662788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL832443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AW188326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY422473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC026063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC040738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC041404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC042022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC064849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC144214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC150600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX537933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR936775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001348002 ⟹ NP_001334931 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AAAAAGTGGGGCCGGGCCTGAGTTGGGCTGACCTGTGAAAGTCTGGGAAGGTCTGCGAGAGAAGhide sequence |
| RefSeq Acc Id: | NM_001355547 ⟹ NP_001342476 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACCTCAAATCATCTAACGTGAAGCCACAGACATCTTGGGCAATTTTAATCATCAAGAAAGAAAThide sequence |
| RefSeq Acc Id: | NM_173550 ⟹ NP_775821 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AAAAAGTGGGGCCGGGCCTGAGTTGGGCTGACCTGTGAAAGTCTGGGAAGGTCTGCGAGAGAAGhide sequence |
| RefSeq Acc Id: | XM_005251397 ⟹ XP_005251454 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGCAACGGCGCATGCGCCCGTTCGTCCCTCAGCGAAGGCGCGCTGCTTGGCGGGCGGGCTCTTChide sequence |
| RefSeq Acc Id: | XM_005251398 ⟹ XP_005251455 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_005251399 ⟹ XP_005251456 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
TGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAAAAAGTGGGGCCGGGCCTGAGTTGGGCTGACCThide sequence |
| RefSeq Acc Id: | XM_011517788 ⟹ XP_011516090 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGACCCCTGAGGTAACCGCACGGTGTGGGGGCTTCGAGGCGGACGACTTGGGAGGGAGGTGTThide sequence |
| RefSeq Acc Id: | XM_011517791 ⟹ XP_011516093 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAAAAAGTGGGGChide sequence |
| RefSeq Acc Id: | XM_011517796 ⟹ XP_011516098 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGTTCGAGACCAGCCTGGGCCTCTGGCAAGCTATGAGAGCCAGATTGCCAAGCTACGGTCCGAGhide sequence |
| RefSeq Acc Id: | XM_017014431 ⟹ XP_016869920 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014432 ⟹ XP_016869921 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014433 ⟹ XP_016869922 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014434 ⟹ XP_016869923 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014435 ⟹ XP_016869924 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014436 ⟹ XP_016869925 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014437 ⟹ XP_016869926 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014438 ⟹ XP_016869927 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014440 ⟹ XP_016869929 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAAAGGAAGCTGGTCTTGGAAGACGGGCTGCTGAAGAAAGATTAGCCGAGGCACATAGGATCCAhide sequence |
| RefSeq Acc Id: | XM_017014441 ⟹ XP_016869930 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014442 ⟹ XP_016869931 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XM_017014443 ⟹ XP_016869932 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CAAACACAATGCAGAGCTGGCAAGCTATGAGAGCCAGATTGCCAAGCTACGGTCCGAGGTTGAAhide sequence |
| RefSeq Acc Id: | XR_001746227 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XR_001746228 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
| RefSeq Acc Id: | XR_001746229 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GAGCCAGCGTTCTCGGAGTACGTATCCAGGAGCTGCAAGCTGAGGGCTGCGGGAGGCGGGAGGAhide sequence |
Protein Sequences| Protein RefSeqs | NP_001334931 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001342476 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_775821 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005251454 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005251455 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005251456 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516090 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516093 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516098 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869920 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869921 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869922 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869923 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869924 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869925 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869926 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869927 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869929 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869930 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869931 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869932 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH26063 | (Get FASTA) | NCBI Sequence Viewer |
| AAH64849 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI44215 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI50601 | (Get FASTA) | NCBI Sequence Viewer | |
| AAM20913 | (Get FASTA) | NCBI Sequence Viewer | |
| AAR13704 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC04370 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC04823 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC87511 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD97907 | (Get FASTA) | NCBI Sequence Viewer | |
| CAH10655 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58674 | (Get FASTA) | NCBI Sequence Viewer | |
| Q6TFL3 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_775821 ⟸ NM_173550 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q6TFL3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_005251454 ⟸ XM_005251397 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6TFL3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_005251455 ⟸ XM_005251398 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6TFL3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_005251456 ⟸ XM_005251399 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6TFL3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_011516093 ⟸ XM_011517791 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_011516090 ⟸ XM_011517788 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6TFL3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_011516098 ⟸ XM_011517796 |
| - Peptide Label: | isoform X15 |
| - Sequence: |
MIQNCNREYDLLMKEKSRLEKTLQEALEKHQREKNEMESHIRETALEEFRLQEEQWEAERRELQhide sequence |
| RefSeq Acc Id: | XP_016869926 ⟸ XM_017014437 |
| - Peptide Label: | isoform X9 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869921 ⟸ XM_017014432 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869924 ⟸ XM_017014435 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869923 ⟸ XM_017014434 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869920 ⟸ XM_017014431 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869925 ⟸ XM_017014436 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869922 ⟸ XM_017014433 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869927 ⟸ XM_017014438 |
| - Peptide Label: | isoform X10 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869930 ⟸ XM_017014441 |
| - Peptide Label: | isoform X12 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869931 ⟸ XM_017014442 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
| RefSeq Acc Id: | XP_016869932 ⟸ XM_017014443 |
| - Peptide Label: | isoform X14 |
| - Sequence: |
MGSRKKRITIYSTAKQRFESFLKIQEEMKHSHLVDAILKAEQDTAVQNMHKKVEKLETEHMDCShide sequence |
| RefSeq Acc Id: | XP_016869929 ⟸ XM_017014440 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MSHPDPSPAKTKVVNVHLEAQILGAQNSELQAKTNETEKAFQTSQQKWKEECRRFEHDLEERDNhide sequence |
| RefSeq Acc Id: | NP_001334931 ⟸ NM_001348002 |
| - Peptide Label: | isoform 2 |
| - Sequence: |
MSHPDPSPAKTKVVNVHLEAQILGAQNSELQAKTNETEKAFQTSQQKWKEECRRFEHDLEERDNhide sequence |
| RefSeq Acc Id: | NP_001342476 ⟸ NM_001355547 |
| - Peptide Label: | isoform 3 |
| - Sequence: |
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYEhide sequence |
Promoters| RGD ID: | 6807614 | |||||||||
| Promoter ID: | HG_KWN:62693 | |||||||||
| 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: | ENST00000297641, ENST00000380689, OTTHUMT00000051768, OTTHUMT00000051769, UC003ZMC.2, UC003ZME.1, UC010MIH.1 | |||||||||
| Position: |
|
| RGD ID: | 7214719 | |||||||||
| Promoter ID: | EPDNEW_H13106 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CCDC171_2 | |||||||||
| Description: | coiled-coil domain containing 171 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7214723 | |||||||||
| Promoter ID: | EPDNEW_H13107 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CCDC171_1 | |||||||||
| Description: | coiled-coil domain containing 171 | |||||||||
| 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 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 9p23-22.2(chr9:9661633-18034356)x1 | copy number loss | Abnormality of the nervous system [RCV000050580]|See cases [RCV000050580] | Chr9:9661633..18034356 [GRCh38] Chr9:9661633..18034354 [GRCh37] Chr9:9651633..18024354 [NCBI36] Chr9:9p23-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 | copy number loss | Abnormality of the skeletal system [RCV000051021]|See cases [RCV000051021] | Chr9:11086096..17636671 [GRCh38] Chr9:11086096..17636669 [GRCh37] Chr9:11076096..17626669 [NCBI36] Chr9:9p23-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052899]|See cases [RCV000052899] | Chr9:11818291..17963882 [GRCh38] Chr9:11818291..17963880 [GRCh37] Chr9:11808291..17953880 [NCBI36] Chr9:9p23-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 | copy number loss | Seizure [RCV000052860]|See cases [RCV000052860] | Chr9:220253..18073359 [GRCh38] Chr9:220253..18073357 [GRCh37] Chr9:210253..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|See cases [RCV000052863] | Chr9:1242978..18957216 [GRCh38] Chr9:1242978..18957214 [GRCh37] Chr9:1232978..18947214 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 | copy number gain | Esophageal atresia [RCV000053704]|See cases [RCV000053704] | Chr9:204193..22086858 [GRCh38] Chr9:204193..22086857 [GRCh37] Chr9:194193..22076857 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] | Chr9:204193..34599437 [GRCh38] Chr9:204193..34599435 [GRCh37] Chr9:194193..34589435 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 | copy number gain | Global developmental delay [RCV000053707]|See cases [RCV000053707] | Chr9:204193..33284638 [GRCh38] Chr9:204193..33284636 [GRCh37] Chr9:194193..33274636 [NCBI36] Chr9:9p24.3-13.3 |
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 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
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 9p23-21.1(chr9:9543538-30266463)x3 | copy number gain | Global developmental delay [RCV000053749]|See cases [RCV000053749] | Chr9:9543538..30266463 [GRCh38] Chr9:9543538..30266461 [GRCh37] Chr9:9533538..30256461 [NCBI36] Chr9:9p23-21.1 |
pathogenic |
| GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] | Chr9:13526091..34261642 [GRCh38] Chr9:13526090..34261640 [GRCh37] Chr9:13516090..34251640 [NCBI36] Chr9:9p23-13.3 |
pathogenic |
| NM_173550.2(CCDC171):c.2386G>A (p.Gly796Arg) | single nucleotide variant | Malignant melanoma [RCV000068610] | Chr9:15744609 [GRCh38] Chr9:15744607 [GRCh37] Chr9:15734607 [NCBI36] Chr9:9p22.3 |
not provided |
| NM_173550.2(CCDC171):c.3600+1216G>A | single nucleotide variant | Lung cancer [RCV000108202] | Chr9:15875879 [GRCh38] Chr9:15875877 [GRCh37] Chr9:9p22.3 |
uncertain significance |
| 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 9p24.3-22.2(chr9:204193-18073359)x1 | copy number loss | See cases [RCV000133825] | Chr9:204193..18073359 [GRCh38] Chr9:204193..18073357 [GRCh37] Chr9:194193..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
| NM_173550.4(CCDC171):c.2404C>T (p.Arg802Trp) | single nucleotide variant | Malignant tumor of prostate [RCV000149366] | Chr9:15744627 [GRCh38] Chr9:15744625 [GRCh37] Chr9:9p22.3 |
uncertain significance |
| GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 | copy number gain | See cases [RCV000134037] | Chr9:220257..29424848 [GRCh38] Chr9:220257..29424846 [GRCh37] Chr9:210257..29414846 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 | copy number loss | See cases [RCV000135660] | Chr9:220253..18708805 [GRCh38] Chr9:220253..18708803 [GRCh37] Chr9:210253..18698803 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 | copy number loss | See cases [RCV000135694] | Chr9:204104..18882281 [GRCh38] Chr9:204104..18882279 [GRCh37] Chr9:194104..18872279 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 | copy number loss | See cases [RCV000135968] | Chr9:204193..16897580 [GRCh38] Chr9:204193..16897578 [GRCh37] Chr9:194193..16887578 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
| GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 | copy number loss | See cases [RCV000136859] | Chr9:214367..16307944 [GRCh38] Chr9:214367..16307942 [GRCh37] Chr9:204367..16297942 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 | copy number gain | See cases [RCV000136680] | Chr9:4661872..27661572 [GRCh38] Chr9:4661872..27661570 [GRCh37] Chr9:4651872..27651570 [NCBI36] Chr9:9p24.1-21.2 |
pathogenic |
| GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
| 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 9p24.3-21.3(chr9:459131-24207894)x3 | copy number gain | See cases [RCV000138499] | Chr9:459131..24207894 [GRCh38] Chr9:459131..24207892 [GRCh37] Chr9:449131..24197892 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 | copy number gain | See cases [RCV000139015] | Chr9:204104..34151476 [GRCh38] Chr9:204104..34151474 [GRCh37] Chr9:194104..34141474 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic|likely benign |
| GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
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 9p24.3-21.2(chr9:204104-27963369)x3 | copy number gain | See cases [RCV000139621] | Chr9:204104..27963369 [GRCh38] Chr9:204104..27963367 [GRCh37] Chr9:194104..27953367 [NCBI36] Chr9:9p24.3-21.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
| 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 9p24.3-21.1(chr9:203861-31423873)x4 | copy number gain | See cases [RCV000141662] | Chr9:203861..31423873 [GRCh38] Chr9:203861..31423871 [GRCh37] Chr9:193861..31413871 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
| GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 | copy number loss | See cases [RCV000141442] | Chr9:322690..16401656 [GRCh38] Chr9:322690..16401654 [GRCh37] Chr9:312690..16391654 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
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 |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
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 |
| GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
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 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 | copy number gain | See cases [RCV000240225] | Chr9:213161..19450250 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
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 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 | copy number loss | See cases [RCV000447415] | Chr9:203861..16925108 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 | copy number loss | See cases [RCV000446566] | Chr9:203861..16670878 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 | copy number loss | See cases [RCV000445963] | Chr9:203861..16856907 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1 | copy number loss | Oxycephaly [RCV000681563] | Chr9:13739630..18023839 [GRCh37] Chr9:9p23-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 | copy number loss | See cases [RCV000445998] | Chr9:213161..17496750 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
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 9p24.3-22.2(chr9:203861-17125893)x1 | copy number loss | See cases [RCV000512122] | Chr9:203861..17125893 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 | copy number gain | See cases [RCV000510425] | Chr9:5900425..30008330 [GRCh37] Chr9:9p24.1-21.1 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 | copy number loss | See cases [RCV000510944] | Chr9:203861..17655298 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 | copy number loss | PARP Inhibitor response [RCV000626433] | Chr9:10320113..26205565 [GRCh37] Chr9:9p23-21.2 |
drug response |
| GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
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 |
| GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1 | copy number loss | Intellectual disability [RCV000681561] | Chr9:14178768..16619009 [GRCh37] Chr9:9p23-22.2 |
pathogenic |
| GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1 | copy number loss | Turricephaly [RCV000681562] | Chr9:13563537..18491752 [GRCh37] Chr9:9p23-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
| GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 | copy number gain | not provided [RCV000683171] | Chr9:203861..26397133 [GRCh37] Chr9:9p24.3-21.2 |
pathogenic |
| GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 | copy number gain | not provided [RCV000683170] | Chr9:203861..20653468 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p22.3(chr9:15393381-15657180)x3 | copy number gain | not provided [RCV000748253] | Chr9:15393381..15657180 [GRCh37] Chr9:9p22.3 |
benign |
| GRCh37/hg19 9p22.3(chr9:15967745-16063191)x1 | copy number loss | not provided [RCV000748254] | Chr9:15967745..16063191 [GRCh37] Chr9:9p22.3 |
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 9p24.3-21.3(chr9:46587-22012051)x3 | copy number gain | not provided [RCV000748062] | Chr9:46587..22012051 [GRCh37] Chr9:9p24.3-21.3 |
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 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 9p24.2-21.3(chr9:4420767-22195820)x3 | copy number gain | not provided [RCV000748122] | Chr9:4420767..22195820 [GRCh37] Chr9:9p24.2-21.3 |
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 |
| GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 | copy number gain | not provided [RCV000845664] | Chr9:203861..19448473 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:29828 | AgrOrtholog |
| COSMIC | CCDC171 | COSMIC |
| Ensembl Genes | ENSG00000164989 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000370077 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000399526 | UniProtKB/TrEMBL | |
| ENSP00000409055 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000380701 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000432954 | UniProtKB/TrEMBL | |
| ENST00000449575 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000164989 | GTEx |
| HGNC ID | HGNC:29828 | ENTREZGENE |
| Human Proteome Map | CCDC171 | Human Proteome Map |
| InterPro | CCDC171 | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:203238 | UniProtKB/Swiss-Prot |
| NCBI Gene | 203238 | ENTREZGENE |
| PANTHER | PTHR47899 | UniProtKB/Swiss-Prot |
| PharmGKB | PA134921892 | PharmGKB |
| UniGene | Hs.17267 | ENTREZGENE |
| Hs.729436 | ENTREZGENE | |
| UniProt | CC171_HUMAN | UniProtKB/Swiss-Prot |
| H0Y5M5_HUMAN | UniProtKB/TrEMBL | |
| H0Y701_HUMAN | UniProtKB/TrEMBL | |
| Q6TFL3 | ENTREZGENE | |
| UniProt Secondary | B7ZM22 | UniProtKB/Swiss-Prot |
| Q5SU58 | UniProtKB/Swiss-Prot | |
| Q6P1W1 | UniProtKB/Swiss-Prot | |
| Q6ZR13 | UniProtKB/Swiss-Prot | |
| Q8N1Z4 | UniProtKB/Swiss-Prot | |
| Q8N8L3 | UniProtKB/Swiss-Prot | |
| Q8TBR2 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2012-04-03 | CCDC171 | coiled-coil domain containing 171 | C9orf93 | chromosome 9 open reading frame 93 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on CCDC171 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1348779 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
