 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
Save List to My RGD
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
{{ watchLinkText }}
Select categories you would like to watch. Updates to this gene will be send to {{ username }}
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease AnnotationsGene-Chemical Interaction Annotations
|
|
|
Gene Ontology AnnotationsBiological Process
|
|
Cellular Component
|
|
Molecular Function
|
|
|
References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 10463609 12477932 12927787 15489334 15499549 17945021 18029348 18412109 19490893 20379614 21244100 21832049 21873635 21988832 23602568 25416956 26186194 28514442 29513927 |
Genomics
Comparative Map Data| CDKL3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdkl3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdkl3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdkl3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| LOC100980501 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CDKL3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdkl3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CDKL3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| T03714 |
|
|||||||||||||||||||||||||||||||||||
| RH103563 |
|
|||||||||||||||||||||||||||||||||||
| D5S1947 |
|
|||||||||||||||||||||||||||||||||||
| WI-21654 |
|
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 | NG_042179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001113575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001300853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001349363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001349364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001349365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001349366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_016508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011543429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009536 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017009547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_002956159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_002956160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_002956161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC104109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC109454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF130372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK294559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK294740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK299305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK301802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK310955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC041799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX104333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR740901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC353401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC372363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KT584702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001113575 ⟹ NP_001107047 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
|
|||||||||||||||||||||||||||||
| Sequence: |
GGAACTACGCAGAGCCAGACCAGCGGGACCACAGAATGGGCTGAGGCGGCGGCGGCTGTTTGGAhide sequence |
| RefSeq Acc Id: | NM_001300853 ⟹ NP_001287782 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
GTTTAGAACGGGTCACGTGAGCGCCTCGCCTGGATGTGAGTTTCAGCCAGCAATTTCATCACGAhide sequence |
| RefSeq Acc Id: | NM_001349363 ⟹ NP_001336292 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GTTTAGAACGGGTCACGTGAGCGCCTCGCCTGGATGTGAGTTTCAGCCAGACCTGTGGATATCThide sequence |
| RefSeq Acc Id: | NM_001349364 ⟹ NP_001336293 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GTTTAGAACGGGTCACGTGAGCGCCTCGCCTGGATGTGAGTTTCAGCCAGACCTGTGGATATCThide sequence |
| RefSeq Acc Id: | NM_001349365 ⟹ NP_001336294 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GTTTAGAACGGGTCACGTGAGCGCCTCGCCTGGATGTGAGTTTCAGCCAGACCTGTGGATATCThide sequence |
| RefSeq Acc Id: | NM_001349366 ⟹ NP_001336295 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GTTTAGAACGGGTCACGTGAGCGCCTCGCCTGGATGTGAGTTTCAGCCAGACCTGTGGATATCThide sequence |
| RefSeq Acc Id: | NM_016508 ⟹ NP_057592 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
GGAACTACGCAGAGCCAGACCAGCGGGACCACAGAATGGGCTGAGGCGGCGGCGGCTGTTTGGAhide sequence |
| RefSeq Acc Id: | XM_011543429 ⟹ XP_011541731 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGhide sequence |
| RefSeq Acc Id: | XM_017009532 ⟹ XP_016865021 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_017009533 ⟹ XP_016865022 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_017009534 ⟹ XP_016865023 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_017009536 ⟹ XP_016865025 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAhide sequence |
| RefSeq Acc Id: | XM_017009544 ⟹ XP_016865033 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_017009545 ⟹ XP_016865034 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_017009546 ⟹ XP_016865035 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGAGAGTAAGCGACTTAGAAAATACCTCTTCCAGATCCTTCGAGCAATTGACTATCTTCACAGThide sequence |
| RefSeq Acc Id: | XM_017009547 ⟹ XP_016865036 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GTCTGGCTCTGTCACCCAGACTGGAGTGCAGTTGTGGGAACTTGGCTCACTGCAACCTCTGTTThide sequence |
| RefSeq Acc Id: | XM_024446086 ⟹ XP_024301854 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_024446087 ⟹ XP_024301855 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGhide sequence |
| RefSeq Acc Id: | XM_024446088 ⟹ XP_024301856 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_024446089 ⟹ XP_024301857 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_024446090 ⟹ XP_024301858 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_024446091 ⟹ XP_024301859 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_024446092 ⟹ XP_024301860 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XM_024446093 ⟹ XP_024301861 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGAGGCCCAGGGAGTATCAGATTAGCGCCAGTCTAAGGGAAGGCATTTTTCCAGACTCGGGAGGhide sequence |
| RefSeq Acc Id: | XM_024446094 ⟹ XP_024301862 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GATCGCACCGCAGCACCTCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAACAAAAAAAGhide sequence |
| RefSeq Acc Id: | XM_024446095 ⟹ XP_024301863 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGThide sequence |
| RefSeq Acc Id: | XM_024446096 ⟹ XP_024301864 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_024446097 ⟹ XP_024301865 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_024446098 ⟹ XP_024301866 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGAGGhide sequence |
| RefSeq Acc Id: | XM_024446099 ⟹ XP_024301867 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TCCGCCGCTACCACAGTCAATTTCATCACGAAAACCTGGTCAATCTGATTGAAGTTTTTAGACAhide sequence |
| RefSeq Acc Id: | XM_024446100 ⟹ XP_024301868 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_024446101 ⟹ XP_024301869 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_024446102 ⟹ XP_024301870 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GTCTGGCTCTGTCACCCAGACTGGAGTGCAGTTGTGGGAACTTGGCTCACTGCAACCTCTGTTThide sequence |
| RefSeq Acc Id: | XM_024446103 ⟹ XP_024301871 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGAGTGCTGGGGGAGGAGGGGGCGGGACGCGGGAGCGCGCCTTCCCCGAGCCCTTCAGCGGGGChide sequence |
| RefSeq Acc Id: | XM_024446104 ⟹ XP_024301872 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CTGGATGTGAGTTTCAGCCAGCAATTTCATCACGAAAACCTGGTCAATCTGATTGAAGTTTTTAhide sequence |
| RefSeq Acc Id: | XM_024446105 ⟹ XP_024301873 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GATCCACCCTCTGTTGCCCCCCAAAGTGCTGGGATTACACGCATGAGCCACCACACCTGGCCAAhide sequence |
| RefSeq Acc Id: | XR_002956159 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGGhide sequence |
| RefSeq Acc Id: | XR_002956160 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGhide sequence |
| RefSeq Acc Id: | XR_002956161 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAAAAAAAAAAAAAAAAAAAGATGCAGATCCTTCCTATCCACATTCAAAAGCAACCTTGTGAGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001107047 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001287782 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001336292 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001336293 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001336294 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001336295 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_057592 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011541731 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865021 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865022 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865023 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865025 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865033 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865034 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865035 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016865036 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301854 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301855 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301856 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301857 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301858 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301859 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301860 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301861 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301862 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301863 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301864 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301865 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301866 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301867 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301868 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301869 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301870 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301871 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301872 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024301873 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF36509 | (Get FASTA) | NCBI Sequence Viewer |
| AAH41799 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG57883 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG59974 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG61318 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG63253 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH11811 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62263 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62264 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62265 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW62266 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8IVW4 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001107047 ⟸ NM_001113575 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q8IVW4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | NP_057592 ⟸ NM_016508 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q8IVW4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | NP_001287782 ⟸ NM_001300853 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q8IVW4 (UniProtKB/Swiss-Prot), B4DX41 (UniProtKB/TrEMBL) |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_011541731 ⟸ XM_011543429 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_016865034 ⟸ XM_017009545 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | XP_016865033 ⟸ XM_017009544 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | XP_016865025 ⟸ XM_017009536 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_016865021 ⟸ XM_017009532 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_016865022 ⟸ XM_017009533 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_016865035 ⟸ XM_017009546 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | XP_016865036 ⟸ XM_017009547 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | XP_016865023 ⟸ XM_017009534 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_024301860 ⟸ XM_024446092 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_024301859 ⟸ XM_024446091 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_024301861 ⟸ XM_024446093 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MSLLRAGVDMLRSCPAVSLKKKKSRAAPPPPGAAAESLWIAAAAAAAAAAETDKQPCNDVSLRRhide sequence |
| RefSeq Acc Id: | XP_024301867 ⟸ XM_024446099 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301869 ⟸ XM_024446101 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301865 ⟸ XM_024446097 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301871 ⟸ XM_024446103 |
| - Peptide Label: | isoform X12 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301868 ⟸ XM_024446100 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301864 ⟸ XM_024446096 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301854 ⟸ XM_024446086 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | NP_001336295 ⟸ NM_001349366 |
| - Peptide Label: | isoform 5 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | NP_001336294 ⟸ NM_001349365 |
| - Peptide Label: | isoform 5 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | NP_001336293 ⟸ NM_001349364 |
| - Peptide Label: | isoform 5 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | NP_001336292 ⟸ NM_001349363 |
| - Peptide Label: | isoform 4 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301872 ⟸ XM_024446104 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301863 ⟸ XM_024446095 |
| - Peptide Label: | isoform X10 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_024301855 ⟸ XM_024446087 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_024301857 ⟸ XM_024446089 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_024301856 ⟸ XM_024446088 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
| RefSeq Acc Id: | XP_024301866 ⟸ XM_024446098 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301862 ⟸ XM_024446094 |
| - Peptide Label: | isoform X9 |
| - Sequence: |
MFYGLLWGRGILIALEVGRRKRNPGFCDTPWGRKESRRRPVDIWALGCMIIEMATGNPYLPSSShide sequence |
| RefSeq Acc Id: | XP_024301870 ⟸ XM_024446102 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MIIEMATGNPYLPSSSDLDLLHKIVLKVGNLSPHLQNIFSKSPIFAGVVLPQVQHPKNARKKYPhide sequence |
| RefSeq Acc Id: | XP_024301873 ⟸ XM_024446105 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MPELKAKLLQEAKVNSLIKPKESSKENELRKDERKTVYTNTLLSSSVLGKEIEKEKKPKEIKVRhide sequence |
| RefSeq Acc Id: | XP_024301858 ⟸ XM_024446090 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MEMYETLGKVGEGSYGTVMKCKHKNTGQIVAIKIFYERPEQSVNKIAMREIKFLKQFHHENLVNhide sequence |
Promoters| RGD ID: | 6802956 | |||||||||
| Promoter ID: | HG_KWN:51113 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000265334, NM_016508 | |||||||||
| Position: |
|
| RGD ID: | 6803633 | |||||||||
| Promoter ID: | HG_KWN:51114 | |||||||||
| 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: | NM_003337, UC010JDW.1 | |||||||||
| Position: |
|
| RGD ID: | 6870592 | |||||||||
| Promoter ID: | EPDNEW_H8461 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CDKL3_1 | |||||||||
| Description: | cyclin dependent kinase like 3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6870596 | |||||||||
| Promoter ID: | EPDNEW_H8463 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CDKL3_2 | |||||||||
| Description: | cyclin dependent kinase like 3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6870600 | |||||||||
| Promoter ID: | EPDNEW_H8465 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CDKL3_3 | |||||||||
| Description: | cyclin dependent kinase like 3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051193]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051193]|See cases [RCV000051193] | Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
| GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052113]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052113]|See cases [RCV000052113] | Chr5:132816203..135383158 [GRCh38] Chr5:132151895..134718848 [GRCh37] Chr5:132179794..134746747 [NCBI36] Chr5:5q31.1 |
pathogenic |
| GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 | copy number loss | Failure to thrive [RCV000052114]|See cases [RCV000052114] | Chr5:133401565..138437038 [GRCh38] Chr5:132737257..137772727 [GRCh37] Chr5:132765156..137800626 [NCBI36] Chr5:5q31.1-31.2 |
pathogenic |
| GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1 | copy number loss | Global developmental delay [RCV000052115]|See cases [RCV000052115] | Chr5:133531234..134847678 [GRCh38] Chr5:132866925..134183368 [GRCh37] Chr5:132894824..134211267 [NCBI36] Chr5:5q31.1 |
pathogenic |
| GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 | copy number loss | Mastocytosis [RCV000053524]|See cases [RCV000053524] | Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2 |
pathogenic |
| GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1 | copy number loss | See cases [RCV000135442] | Chr5:131626503..135815054 [GRCh38] Chr5:130962196..135150743 [GRCh37] Chr5:130990095..135178642 [NCBI36] Chr5:5q31.1 |
pathogenic |
| GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 | copy number gain | See cases [RCV000138808] | Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
| GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 | copy number gain | not provided [RCV000487658] | Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 | copy number gain | See cases [RCV000449349] | Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | copy number gain | See cases [RCV000510723] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 | copy number gain | See cases [RCV000448245] | Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
| NC_000005.9:g.(?_86400000)_(154000000_?)del | deletion | Hereditary cancer-predisposing syndrome [RCV000554476] | Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 | copy number loss | See cases [RCV000511978] | Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 | copy number gain | See cases [RCV000512039] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| NM_003337.4(UBE2B):c.23G>C (p.Arg8Thr) | single nucleotide variant | not provided [RCV000122603] | Chr5:134371618 [GRCh38] Chr5:133707309 [GRCh37] Chr5:5q31.1 |
not provided |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 | copy number gain | not provided [RCV000744323] | Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 | copy number gain | not provided [RCV000744317] | Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 | copy number loss | not provided [RCV000762739] | Chr5:126377719..136270989 [GRCh37] Chr5:5q23.2-31.2 |
likely pathogenic |
| Single allele | deletion | Neurodevelopmental disorder [RCV000787436] | Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
| GRCh37/hg19 5q31.1(chr5:133603493-133664519)x3 | copy number gain | not provided [RCV000848156] | Chr5:133603493..133664519 [GRCh37] Chr5:5q31.1 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:15483 | AgrOrtholog |
| COSMIC | CDKL3 | COSMIC |
| Ensembl Genes | ENSG00000006837 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000265334 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000427738 | UniProtKB/TrEMBL | |
| ENSP00000427836 | UniProtKB/TrEMBL | |
| ENSP00000427964 | UniProtKB/TrEMBL | |
| ENSP00000428498 | UniProtKB/TrEMBL | |
| ENSP00000428500 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000428689 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000430496 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000430777 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000265334 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000518990 | UniProtKB/TrEMBL | |
| ENST00000519312 | UniProtKB/TrEMBL | |
| ENST00000520592 | UniProtKB/TrEMBL | |
| ENST00000520693 | UniProtKB/TrEMBL | |
| ENST00000521118 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000521755 | UniProtKB/TrEMBL | |
| ENST00000523054 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000523832 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000006837 | GTEx |
| HGNC ID | HGNC:15483 | ENTREZGENE |
| Human Proteome Map | CDKL3 | Human Proteome Map |
| InterPro | Kinase-like_dom_sf | UniProtKB/Swiss-Prot |
| Prot_kinase_dom | UniProtKB/Swiss-Prot | |
| Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot | |
| Ser/Thr_kinase_AS | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:51265 | UniProtKB/Swiss-Prot |
| NCBI Gene | 51265 | ENTREZGENE |
| OMIM | 608459 | OMIM |
| Pfam | Pkinase | UniProtKB/Swiss-Prot |
| PharmGKB | PA26319 | PharmGKB |
| PROSITE | PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot |
| PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot | |
| PROTEIN_KINASE_ST | UniProtKB/Swiss-Prot | |
| SMART | S_TKc | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF56112 | UniProtKB/Swiss-Prot |
| UniGene | Hs.719926 | ENTREZGENE |
| UniProt | B4DX41 | ENTREZGENE, UniProtKB/TrEMBL |
| CDKL3_HUMAN | UniProtKB/Swiss-Prot | |
| E5RFT9_HUMAN | UniProtKB/TrEMBL | |
| E5RGK4_HUMAN | UniProtKB/TrEMBL | |
| E5RI54_HUMAN | UniProtKB/TrEMBL | |
| E7ET86_HUMAN | UniProtKB/TrEMBL | |
| H0YAP8_HUMAN | UniProtKB/TrEMBL | |
| H0YB17_HUMAN | UniProtKB/TrEMBL | |
| Q8IVW4 | ENTREZGENE | |
| UniProt Secondary | D3DQA0 | UniProtKB/Swiss-Prot |
| D3DQA1 | UniProtKB/Swiss-Prot | |
| Q9P114 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-01-12 | CDKL3 | cyclin dependent kinase like 3 | cyclin-dependent kinase-like 3 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | CDKL3 | cyclin-dependent kinase-like 3 | CDKL3 | cyclin-dependent kinase-like 3 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on CDKL3 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 731372 |
| Created: | 2004-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
