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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) |
Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| atrial fibrillation | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29892015, PMID:30061737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway Annotations
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References - curated| 1. | Carnegie GK, etal., IUBMB Life. 2009 Apr;61(4):394-406. |
| 2. | Dodge KL, etal., EMBO J 2001 Apr 17;20(8):1921-30. |
| 3. | Earp M, etal., PLoS One. 2018 Jul 6;13(7):e0197561. doi: 10.1371/journal.pone.0197561. eCollection 2018. |
| 4. | GOA_HUMAN data from the GO Consortium |
| 5. | Kritzer MD, etal., Circ Heart Fail. 2014 Jul;7(4):663-72. doi: 10.1161/CIRCHEARTFAILURE.114.001266. Epub 2014 May 8. |
| 6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | Rohman MS, etal., Biochem Biophys Res Commun. 2003 Oct 10;310(1):228-35. |
| 9. | Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67. |
| 10. | Wang K, etal., Mol Psychiatry. 2011 Sep;16(9):949-59. doi: 10.1038/mp.2010.107. Epub 2010 Nov 16. |
| 11. | Wilhelm T, etal., Epigenetics. 2016;11(2):110-9. doi: 10.1080/15592294.2016.1145327. Epub 2016 Feb 18. |
| 12. | Zan L, etal., Neurochem Int. 2011 Jul;58(8):872-9. doi: 10.1016/j.neuint.2011.02.014. Epub 2011 Feb 18. |
References - uncurated| PubMed | 7721854 9205841 9238861 9679148 10413680 10830164 11299204 11352932 11590243 11807172 12168954 12477932 12672969 12754202 14702039 15342556 15840729 16177794 17043677 17110338 17474147 17923693 19109240 20106966 20677014 21150319 21873635 22484155 22566634 22581228 23414517 23806656 26563778 28067462 29507755 29600899 |
Comparative Map Data| AKAP6 (Homo sapiens - human) |
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| Akap6 (Mus musculus - house mouse) |
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| Akap6 (Rattus norvegicus - Norway rat) |
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| Akap6 (Chinchilla lanigera - long-tailed chinchilla) |
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| AKAP6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| AKAP6 (Canis lupus familiaris - dog) |
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| Akap6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| AKAP6 (Sus scrofa - pig) |
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| AKAP6 (Chlorocebus sabaeus - green monkey) |
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| Akap6 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D14S121 |
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| G36054 |
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| L18177 |
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| WI-14096 |
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| RH91259 |
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| SHGC-82243 |
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| RH123413 |
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| D14S717E |
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| RH45526 |
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| SHGC-37333 |
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| D14S1236 |
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| RH69589 |
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| G17798 |
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| AKAP6__4280 |
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miRNA Target Status
| 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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RNA-SEQ Expression| leukocyte | uterine cervix | peripheral nervous system | zone of skin | lymph node | large intestine | oral cavity | blood | breast | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | pleura | penis | ovary | uterus | mammalian vulva | adipose tissue | musculature | chordate pharynx | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | caecum | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | epididymis | muscle of leg | muscle of arm | nasal septum | tongue | skeletal muscle of trunk | temporal lobe | forebrain | pineal body | placenta | hindbrain | epithelium of bronchus | cerebellum | substantia nigra | thyroid gland | lung | heart left ventricle | spleen | liver | small intestine | gall bladder | kidney | duodenum | ileum | mitral valve | pulmonary valve | spinal cord | dura mater | prostate gland | adrenal gland | thymus | bone marrow | tonsil | connective tissue | hematopoietic system | bile duct | cartilage tissue | bone tissue | mouth mucosa | fallopian tube | left kidney | umbilical cord blood | venous blood | frontal lobe | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 2 | 4 | 25 | 15 | 1 | 1 | 20 | 35 | 1 | 8 | 2 | 1 | 1 | 6 | 1 | 2 | 4 | 1 | 1 | 1 | 1 | 18 | 11 | 1 | 1 | 12 | 1 | 10 | 1 | 1 | 2 | 1 | 1 | 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 1 | 23 | 12 | 98 | 8 | 38 | 2 | 183 | 105 | 18 | 23 | 43 | 4 | 60 | 132 | 31 | 2 | 2 | 2 | 1 | 24 | 1 | 2 | 1 | 1 | 1 | 24 | 2 | 1 | 1 | 17 | 87 | 1 | 1 | 4 | 2 | 2 | 1 | 53 | 233 | 1 | 149 | 2 | 2 | 230 | 1 | 1 | 1 | 24 | 5 | 3 | 1 | 1 | 3 | 24 | 2 | 25 | 35 | 1 | 1 | 3 | 3 | 1 | 1 | 1 | 1 | 1 | |||||||||||||||||||||
| Below cutoff | 14 | 1 | 177 | 17 | 48 | 2 | 373 | 63 | 11 | 4 | 25 | 15 | 1 | 3 | 1 | 40 | 18 | 1 | 1 | 1 | 1 | 8 | 1 | 1 | 21 | 19 | 21 | 1 | 3 | 1 | 2 | 1 | 1 | 6 | 62 | 1 | 1 | 83 | 2 | 1 | 24 | 1 | 1 | 4 | 1 | 1 | 5 | 1 | 2 | 50 | 2 | 17 | 7 | 10 | 5 |
Nucleotide Sequences| RefSeq Transcripts | NM_004274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_011537378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011537379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011537383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017021808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017021811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024449754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024449755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024449756 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024449757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB002309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK094160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL049781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL117672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL132988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL161665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC137232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC137233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC150185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC150288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC154413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP230135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF455853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U17195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000280979 ⟹ ENSP00000280979 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000553547 ⟹ ENSP00000451239 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000554410 ⟹ ENSP00000451246 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000554449 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000554740 ⟹ ENSP00000452109 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000555207 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000555950 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000556037 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000556540 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000556638 ⟹ ENSP00000452204 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000557102 ⟹ ENSP00000451146 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000557272 ⟹ ENSP00000451247 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000557354 ⟹ ENSP00000450531 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000557396 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000557708 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_004274 ⟹ NP_004265 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTCTTTCCCATAATGAGCTGCATCATCTGAACTGATGTCACAGCATCATGCAGCAGGTCAAAChide sequence |
| RefSeq Acc Id: | XM_011537378 ⟹ XP_011535680 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTACCTGTATAACAAACCTGCACATGTACCCCTGAACTTAAATAAAACTAAAAAAAAATTAGCChide sequence |
| RefSeq Acc Id: | XM_011537379 ⟹ XP_011535681 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TACCTGTATAACAAACCTGCACATGTACCCCTGAACTTAAATAAAACTAAAAAAAAATTAGCCThide sequence |
| RefSeq Acc Id: | XM_011537383 ⟹ XP_011535685 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCAGCAGCAGCATCTTTACTAGCGATACAGTGTGGAAATGTCCATCAGACACCTGAAAAAGACGhide sequence |
| RefSeq Acc Id: | XM_017021808 ⟹ XP_016877297 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATAATGAGCTGCATCATCTGAACTGATGTCACAGCATCATGCAGCAGGTCAAACAAGGCATCTChide sequence |
| RefSeq Acc Id: | XM_017021811 ⟹ XP_016877300 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AATAGAATGTACCTGAAAATTTCATTAATTTTAATAAAAATTCCAAAAGTTGGTGAAAGAAGGAhide sequence |
| RefSeq Acc Id: | XM_024449754 ⟹ XP_024305522 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCCTCTGAGCGCGCGGCGGGGTCCAGCGCCCAGGCGAGCTGGAGACGCCCCGATAACGAGGCTGhide sequence |
| RefSeq Acc Id: | XM_024449755 ⟹ XP_024305523 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCCTCTGAGCGCGCGGCGGGGTCCAGCGCCCAGGCGAGCTGGAGACGCCCCGATAACGAGGCTGhide sequence |
| RefSeq Acc Id: | XM_024449756 ⟹ XP_024305524 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTAGGCCACCAAGAGAGTATGAAGCTGGTACTCTATACTGGCACCAGTGTCCTGCCAGCATGGThide sequence |
| RefSeq Acc Id: | XM_024449757 ⟹ XP_024305525 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGCAAAAAGTGAAAGGCTCAGAAATCATGACCCTGCTTAGAAACTGCTGCTTCCTTCCTAACAChide sequence |
Protein Sequences| Protein RefSeqs | NP_004265 | (Get FASTA) | NCBI Sequence Viewer |
| XP_011535680 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011535681 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011535685 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016877297 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016877300 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024305522 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024305523 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024305524 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024305525 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA92354 | (Get FASTA) | NCBI Sequence Viewer |
| AAI37233 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI37234 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI50186 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI50289 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI54414 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA20770 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW65931 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW65932 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW65933 | (Get FASTA) | NCBI Sequence Viewer | |
| Q13023 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_004265 ⟸ NM_004274 |
| - UniProtKB: | Q13023 (UniProtKB/Swiss-Prot), B2RP22 (UniProtKB/TrEMBL) |
| - Sequence: |
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWhide sequence |
| RefSeq Acc Id: | XP_011535681 ⟸ XM_011537379 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MSLKLYSEQYTSSSKRKEEFADMSKVHSVGSNGLLDFDSEYQELWDWLIDMESLVMDSHDLMMShide sequence |
| RefSeq Acc Id: | XP_011535680 ⟸ XM_011537378 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEITEVAEVQLCYLEAQRDAVEQMSLKLYSEQYTSSSKRKEEFADMSKVHSVGSNGLLDFDSEYhide sequence |
| RefSeq Acc Id: | XP_011535685 ⟸ XM_011537383 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MSIRHLKKTELLSKVEALKKGGVLLPNDLLEKVDSINEKWELLGKTLGEKIQDTMAGHSGSSPRhide sequence |
| RefSeq Acc Id: | XP_016877297 ⟸ XM_017021808 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWhide sequence |
| RefSeq Acc Id: | XP_016877300 ⟸ XM_017021811 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEITEVAEVQLCYLEAQRDAVEQMSLKLYSEQYTSSSKRKEEFADMSKVHSVGSNGLLDFDSEYhide sequence |
| RefSeq Acc Id: | XP_024305523 ⟸ XM_024449755 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWhide sequence |
| RefSeq Acc Id: | XP_024305522 ⟸ XM_024449754 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWhide sequence |
| RefSeq Acc Id: | XP_024305525 ⟸ XM_024449757 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWhide sequence |
| RefSeq Acc Id: | XP_024305524 ⟸ XM_024449756 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWhide sequence |
| RefSeq Acc Id: | ENSP00000452204 ⟸ ENST00000556638 |
| RefSeq Acc Id: | ENSP00000450531 ⟸ ENST00000557354 |
| RefSeq Acc Id: | ENSP00000451247 ⟸ ENST00000557272 |
| RefSeq Acc Id: | ENSP00000451146 ⟸ ENST00000557102 |
| RefSeq Acc Id: | ENSP00000280979 ⟸ ENST00000280979 |
| RefSeq Acc Id: | ENSP00000451239 ⟸ ENST00000553547 |
| RefSeq Acc Id: | ENSP00000451246 ⟸ ENST00000554410 |
| RefSeq Acc Id: | ENSP00000452109 ⟸ ENST00000554740 |
Promoters| RGD ID: | 7227385 | |||||||||
| Promoter ID: | EPDNEW_H19438 | |||||||||
| Type: | initiation region | |||||||||
| Name: | AKAP6_2 | |||||||||
| Description: | A-kinase anchoring protein 6 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H19439 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7227391 | |||||||||
| Promoter ID: | EPDNEW_H19439 | |||||||||
| Type: | initiation region | |||||||||
| Name: | AKAP6_1 | |||||||||
| Description: | A-kinase anchoring protein 6 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H19438 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 | copy number loss | Global developmental delay [RCV000051485]|See cases [RCV000051485] | Chr14:20196945..45284802 [GRCh38] Chr14:20665104..45754005 [GRCh37] Chr14:19734944..44823755 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051490]|See cases [RCV000051490] | Chr14:23548960..41983402 [GRCh38] Chr14:24018169..42452605 [GRCh37] Chr14:23088009..41522355 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 | copy number gain | Coarse facial features [RCV000052292]|See cases [RCV000052292] | Chr14:30670314..44990595 [GRCh38] Chr14:31139520..45459798 [GRCh37] Chr14:30209271..44529548 [NCBI36] Chr14:14q12-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 | copy number gain | Intellectual functioning disability [RCV000053803]|See cases [RCV000053803] | Chr14:20000611..38984415 [GRCh38] Chr14:20468770..39453619 [GRCh37] Chr14:19538610..38523370 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] | Chr14:20150949..39746154 [GRCh38] Chr14:20619108..40215358 [GRCh37] Chr14:19688948..39285109 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
| NM_004274.4(AKAP6):c.643T>A (p.Tyr215Asn) | single nucleotide variant | Malignant melanoma [RCV000070528] | Chr14:32545296 [GRCh38] Chr14:33014502 [GRCh37] Chr14:32084253 [NCBI36] Chr14:14q12 |
not provided |
| NM_004274.4(AKAP6):c.1901C>T (p.Pro634Leu) | single nucleotide variant | Malignant melanoma [RCV000070529] | Chr14:32546554 [GRCh38] Chr14:33015760 [GRCh37] Chr14:32085511 [NCBI36] Chr14:14q12 |
not provided |
| NM_004274.4(AKAP6):c.6375C>T (p.Val2125=) | single nucleotide variant | Malignant melanoma [RCV000070530] | Chr14:32824188 [GRCh38] Chr14:33293394 [GRCh37] Chr14:32363145 [NCBI36] Chr14:14q12 |
not provided |
| NM_004274.4(AKAP6):c.4784C>T (p.Ser1595Phe) | single nucleotide variant | Malignant melanoma [RCV000062744] | Chr14:32822597 [GRCh38] Chr14:33291803 [GRCh37] Chr14:32361554 [NCBI36] Chr14:14q12 |
not provided |
| NM_004274.4(AKAP6):c.4809T>C (p.Tyr1603=) | single nucleotide variant | Malignant melanoma [RCV000062745] | Chr14:32822622 [GRCh38] Chr14:33291828 [GRCh37] Chr14:32361579 [NCBI36] Chr14:14q12 |
not provided |
| NM_004274.4(AKAP6):c.-35+8718A>G | single nucleotide variant | Lung cancer [RCV000098696] | Chr14:32338126 [GRCh38] Chr14:32807332 [GRCh37] Chr14:14q12 |
uncertain significance |
| NM_004274.4(AKAP6):c.325-19229G>A | single nucleotide variant | Lung cancer [RCV000098697] | Chr14:32516325 [GRCh38] Chr14:32985531 [GRCh37] Chr14:14q12 |
uncertain significance |
| GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 | copy number loss | See cases [RCV000135334] | Chr14:30382554..37712341 [GRCh38] Chr14:30851760..38181546 [GRCh37] Chr14:29921511..37251297 [NCBI36] Chr14:14q12-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 | copy number gain | See cases [RCV000135543] | Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1 | copy number loss | See cases [RCV000142290] | Chr14:28803988..33234266 [GRCh38] Chr14:29273194..33703472 [GRCh37] Chr14:28342945..32773223 [NCBI36] Chr14:14q12-13.1 |
pathogenic |
| GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 | copy number loss | See cases [RCV000143063] | Chr14:30792271..44685131 [GRCh38] Chr14:31261477..45154334 [GRCh37] Chr14:30331228..44224084 [NCBI36] Chr14:14q12-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 | copy number gain | See cases [RCV000143373] | Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 | copy number gain | See cases [RCV000143186] | Chr14:20022693..44093672 [GRCh38] Chr14:20490852..44562875 [GRCh37] Chr14:19560692..43632625 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 | copy number gain | See cases [RCV000143748] | Chr14:20043513..48642042 [GRCh38] Chr14:20511672..49111245 [GRCh37] Chr14:19581512..48180995 [NCBI36] Chr14:14q11.2-21.3 |
pathogenic |
| NM_004274.5(AKAP6):c.725A>G (p.Asp242Gly) | single nucleotide variant | not provided [RCV000488056] | Chr14:32545378 [GRCh38] Chr14:33014584 [GRCh37] Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 | copy number gain | See cases [RCV000447658] | Chr14:23164384..54733411 [GRCh37] Chr14:14q11.2-22.2 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 | copy number gain | See cases [RCV000446256] | Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 | copy number gain | See cases [RCV000448273] | Chr14:19794561..34049214 [GRCh37] Chr14:14q11.2-13.1 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) | copy number gain | See cases [RCV000512041] | Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 | copy number gain | not provided [RCV000738413] | Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 | copy number gain | not provided [RCV000738414] | Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q12(chr14:32953362-32953914)x4 | copy number gain | not provided [RCV000738442] | Chr14:32953362..32953914 [GRCh37] Chr14:14q12 |
benign |
| GRCh37/hg19 14q12(chr14:32953362-32954139)x0 | copy number loss | not provided [RCV000738443] | Chr14:32953362..32954139 [GRCh37] Chr14:14q12 |
benign |
| GRCh37/hg19 14q12(chr14:32953362-32954166)x0 | copy number loss | not provided [RCV000738444] | Chr14:32953362..32954166 [GRCh37] Chr14:14q12 |
benign |
| GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 | copy number gain | not provided [RCV000738412] | Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
| NM_004274.5(AKAP6):c.5428T>A (p.Leu1810Met) | single nucleotide variant | not provided [RCV000892661] | Chr14:32823241 [GRCh38] Chr14:33292447 [GRCh37] Chr14:14q12 |
likely benign |
| NM_004274.5(AKAP6):c.2514T>C (p.Ala838=) | single nucleotide variant | not provided [RCV000903856] | Chr14:32599454 [GRCh38] Chr14:33068660 [GRCh37] Chr14:14q12 |
likely benign |
| NM_004274.5(AKAP6):c.2409= (p.Glu803=) | variation | not provided [RCV000949985] | Chr14:32577182 [GRCh38] Chr14:33046388 [GRCh37] Chr14:14q12 |
benign |
| GRCh37/hg19 14q12-13.1(chr14:33019818-33594129)x4 | copy number gain | not provided [RCV000849127] | Chr14:33019818..33594129 [GRCh37] Chr14:14q12-13.1 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:32767717-32838383)x3 | copy number gain | not provided [RCV000848925] | Chr14:32767717..32838383 [GRCh37] Chr14:14q12 |
uncertain significance |
| NM_004274.5(AKAP6):c.5259C>T (p.Ser1753=) | single nucleotide variant | not provided [RCV000916639] | Chr14:32823072 [GRCh38] Chr14:33292278 [GRCh37] Chr14:14q12 |
likely benign |
| GRCh37/hg19 14q12(chr14:32752539-33253407)x1 | copy number loss | not provided [RCV000847776] | Chr14:32752539..33253407 [GRCh37] Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1 | copy number loss | not provided [RCV000849105] | Chr14:30448939..35017859 [GRCh37] Chr14:14q12-13.1 |
pathogenic |
| NM_004274.5(AKAP6):c.2305C>T (p.Gln769Ter) | single nucleotide variant | not provided [RCV000850384] | Chr14:32546958 [GRCh38] Chr14:33016164 [GRCh37] Chr14:14q12 |
uncertain significance |
| NM_004274.5(AKAP6):c.2674G>A (p.Glu892Lys) | single nucleotide variant | not provided [RCV000959444] | Chr14:32600736 [GRCh38] Chr14:33069942 [GRCh37] Chr14:14q12 |
benign |
| NM_004274.5(AKAP6):c.6504G>A (p.Glu2168=) | single nucleotide variant | not provided [RCV000889724] | Chr14:32824317 [GRCh38] Chr14:33293523 [GRCh37] Chr14:14q12 |
benign |
| NM_004274.5(AKAP6):c.4546A>G (p.Thr1516Ala) | single nucleotide variant | not provided [RCV000957209] | Chr14:32822359 [GRCh38] Chr14:33291565 [GRCh37] Chr14:14q12 |
benign |
| NM_004274.5(AKAP6):c.1672A>G (p.Asn558Asp) | single nucleotide variant | not provided [RCV000957208] | Chr14:32546325 [GRCh38] Chr14:33015531 [GRCh37] Chr14:14q12 |
benign |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:376 | AgrOrtholog |
| COSMIC | AKAP6 | COSMIC |
| Ensembl Genes | ENSG00000151320 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000280979 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000450531 | UniProtKB/Swiss-Prot | |
| ENSP00000451146 | UniProtKB/TrEMBL | |
| ENSP00000451239 | UniProtKB/TrEMBL | |
| ENSP00000451246 | UniProtKB/TrEMBL | |
| ENSP00000451247 | UniProtKB/TrEMBL | |
| ENSP00000452109 | UniProtKB/TrEMBL | |
| ENSP00000452204 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000280979 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000553547 | UniProtKB/TrEMBL | |
| ENST00000554410 | UniProtKB/TrEMBL | |
| ENST00000554740 | UniProtKB/TrEMBL | |
| ENST00000556638 | UniProtKB/TrEMBL | |
| ENST00000557102 | UniProtKB/TrEMBL | |
| ENST00000557272 | UniProtKB/TrEMBL | |
| ENST00000557354 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000151320 | GTEx |
| HGNC ID | HGNC:376 | ENTREZGENE |
| Human Proteome Map | AKAP6 | Human Proteome Map |
| InterPro | Spectrin/alpha-actinin | UniProtKB/Swiss-Prot |
| Spectrin_repeat | UniProtKB/TrEMBL | |
| KEGG Report | hsa:9472 | UniProtKB/Swiss-Prot |
| NCBI Gene | 9472 | ENTREZGENE |
| OMIM | 604691 | OMIM |
| Pfam | Spectrin | UniProtKB/TrEMBL |
| PharmGKB | PA24670 | PharmGKB |
| SMART | SPEC | UniProtKB/Swiss-Prot |
| UniGene | Hs.509083 | ENTREZGENE |
| UniProt | AKAP6_HUMAN | UniProtKB/Swiss-Prot |
| B2RP22 | ENTREZGENE, UniProtKB/TrEMBL | |
| D3DS91_HUMAN | UniProtKB/TrEMBL | |
| G3V3B5_HUMAN | UniProtKB/TrEMBL | |
| G3V3H2_HUMAN | UniProtKB/TrEMBL | |
| G3V3H6_HUMAN | UniProtKB/TrEMBL | |
| G3V3H7_HUMAN | UniProtKB/TrEMBL | |
| G3V569_HUMAN | UniProtKB/TrEMBL | |
| H0YJT7_HUMAN | UniProtKB/TrEMBL | |
| Q13023 | ENTREZGENE | |
| UniProt Secondary | A7E242 | UniProtKB/Swiss-Prot |
| A7E2D4 | UniProtKB/Swiss-Prot | |
| O15028 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-11-24 | AKAP6 | A-kinase anchoring protein 6 | A kinase (PRKA) anchor protein 6 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | AKAP6 | A kinase (PRKA) anchor protein 6 | AKAP6 | A kinase (PRKA) anchor protein 6 | Symbol and/or name change | 5135510 | APPROVED |
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| More on AKAP6 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 69458 |
| Created: | 2001-11-27 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
